It's 5:30 in the morning on a Saturday, when Nik is home and the kids are both asleep. I am wide awake. Go figure. Since next week my hubby turns 30, and since he stumbled across a rare Saturday off this weekend, I decided about a month ago to plan an all expense paid (by my hidden cash stash I accumulate over the months) family weekend getaway to a hotel with a little indoor water park for kids. Our bags are packed, the travel toy chest is already in the car. Everything is ready to go for when we leave in about 3 hours. And Nik has NO idea we are even going. I can't wait till he wakes up.
So other than planning and packing for that this week, I've also decided to temporarily give up my online medical search addiction. It was getting unhealthy. I was scrutinizing to the point of embarrassment, trying to find a diagnosis or to back up Kabuki Syndrome. I was constantly comparing her symptoms and features to that of other kids, trying to see if I was trying to make something of nothing. I was even checking Noah from head to toe, which only made me more crazy. Because guess what? His ears are cupped. His eyes have slight epicanthal folds. His toes have toe pads. GOOD LORD. I started freaking out that he might have a touch of a genetic abnormality too, until I realized that EVERYONE has things about them that are different like this. My toenails point upwards just like Isabella's, and Nik totally has toe pads too. Does this mean we are genetically 'wrong'? (Probably, haha!) But really. I was driving my kids, my husband, and myself totally crazy. And I acted crazy too. Take my recent trip to Pat Catans for example. I was in the picture frame aisle searching for the perfect side by side matted 5 x 7 when I peered in closer to some of the frames, just to look at the kids on the generic black and white pictures they put in the frames. Seriously. I was totally checking to see if this child picture frame model had epicanthal folds. This old lady walks down the aisle towards me, and I didn't even realize she was there because I was so transfixed by hoping this child had skin flaps in the corner of her eyes.
The lady sees me doing this and walks right up to me and says "Do you recognize her, dear?"
uhhhh.......
"um no. (nervous laughter)".
I booked it out of the store without buying anything, I was that mortified. Not that she knew what I was doing. But I still felt ashamed.
It gets worse. The other day I was playing barbies with Bells and I literally checked Barbie's hand for Palmer creases. I wanted to see if they would be there, and if they would be "anatomically correct." Yup. They were there. And yup, there were three of them. No fears guys. Barbie does NOT have a genetic syndrome.
So I decided that I had gone beyond the normal and healthy, and crossed over into the psycho and obsessed world of self diagnosing my child. I am going back to seeing her as nothing more than my beautiful and normal 4 year old. Because even with something different in her DNA, she has more in common with a normal child than not. She's perfect to me.
I have had doctors, BCMH nurses, family, friends, and my husband tell me how unhealthy it is to be googling and searching endlessly for answers as often as I was. Funny how it took picture frames and Barbie dolls to make me realize it.
I'm off to enjoy a weekend of bliss with my perfectly imperfect little family. I'm sure there will be fab pictures and stories to come :)
Saturday, March 26, 2011
Wednesday, March 16, 2011
The Chase
I feel like I'm back in college, researching for a paper. I can't seem to unglue myself from the Internet, endlessly searching for something definitive to grasp onto, something that will give me that moment of clarity, that Kabuki is, in fact, the truth of Isabella.
I am back to my old ways, obsessing over different symptoms, writing my list of possibilities on my little purple pad of paper, only to later cross them off after thorough investigation on medical websites. She fits here, she doesn't fit there. Why am I so determined to put her into a category?
I want to know. I want to find it, label it, grieve it, thank it, and stop worrying that it will take her away from me. I want to scream it out loud for anyone who looks at her funny or asks me why she does this and doesn't do that. I want to make it a word that falls out of my mouth in a way that isn't horrifying, just like saying Isabella has brown hair. Isabella has blue eyes. Isabella has a genetic syndrome.
It used to haunt me like this before. At first I felt like I was running away from it, denying that it could be, hating doctors that suggested it, and believing that she would one day be what I thought my dream of my child would be.
Not anymore. What I thought I wanted in Isabella when she was born isn't who Isabella is today. She's so much better. I want exactly who she is. I want her sweet voice, her big eyes, her gentle nature, her perseverance and her determination. I want her chubby fingers, her overlapping toes, her clumsy run, and her social nature. I want her careful steps, her affectionate hugs, her love of books, and her twirling dance moves. I want her brown hair. I want her blue eyes. And I want her genetic syndrome.
I just want to know what it is.
So, the chase is on. I feel like it has always been winning, evading me by making me fear it, then hiding itself behind illnesses that took first priority of our attention. It runs from me and uses insurance companies, busy doctors, and unreliable, nonspecific, and slow advancing genetic testing to remain always out of reach. It plays games with me, making me want it one minute and not care for it the next. It uses my patience, my anxiety, my time, my money, my sanity, my marriage and my child to turn me into a someone I barely recognize anymore. And despite all of this, I am so thankful for it.
I fear it sometimes, but I don't wish it away.
I have already accepted that it is here. I'm not running anymore. I forgive it for making us worry, and for making my baby struggle. I accept that it is in control of her body. I will live every day of my life teaching my daughter, family, friends, doctors, teachers and society how to adapt, adjust, embrace and accept it. I just want to put a name to it, so I can say that finally, the chase is over.
Since learning of Kabuki Syndrome 6 days ago, I feel like I am getting closer. Like the hunt is intensifying as it reaches the final moments before revealing itself to me. But the harder I push to find it, the more I wonder if I will ever, for sure, know the truth. And if not, will I ever, really, be able to accept that and move on peacefully?
I do know that this child of mine has a spirit made of pure light. I have often heard that people who are blind or deaf use their other senses to overcompensate for the loss of the other. Isabella's body isn't perfect. It is weak and fragile and different. But her spirit is amazing. It is strong, it is innocent, it is powerful, and it is loving. It overcompensates for all that her body is unable to do. That little body is just the host so that her spirit can light up her corner of the world while she is here.
I can't believe the amount of love and support I have been surrounded by in this past week. So many of my friends and family are calling, texting, writing and visiting, checking in on us and loving up our girl even more than normal. I appreciate all of you for helping me, and for loving Isabella so much.
I have also found SO MANY wonderful people through Kabuki forums, blogs, and facebook. I have never before felt so uplifted by so many hands, accepting me and guiding me through this process. I can't tell you how good it feels to see pictures of each of your beautiful children, whom all look so similar to my own little love, and to feel like I have finally found Isabella's community. You all, who live so far from me, some of whom I have yet to even speak with yet, already feel like a kind of family to me.
My heart says Kabuki.
My brain says Kabuki.
The Internet says Kabuki.
But I'm still not sure.
So the chase goes on.
I am back to my old ways, obsessing over different symptoms, writing my list of possibilities on my little purple pad of paper, only to later cross them off after thorough investigation on medical websites. She fits here, she doesn't fit there. Why am I so determined to put her into a category?
I want to know. I want to find it, label it, grieve it, thank it, and stop worrying that it will take her away from me. I want to scream it out loud for anyone who looks at her funny or asks me why she does this and doesn't do that. I want to make it a word that falls out of my mouth in a way that isn't horrifying, just like saying Isabella has brown hair. Isabella has blue eyes. Isabella has a genetic syndrome.
It used to haunt me like this before. At first I felt like I was running away from it, denying that it could be, hating doctors that suggested it, and believing that she would one day be what I thought my dream of my child would be.
Not anymore. What I thought I wanted in Isabella when she was born isn't who Isabella is today. She's so much better. I want exactly who she is. I want her sweet voice, her big eyes, her gentle nature, her perseverance and her determination. I want her chubby fingers, her overlapping toes, her clumsy run, and her social nature. I want her careful steps, her affectionate hugs, her love of books, and her twirling dance moves. I want her brown hair. I want her blue eyes. And I want her genetic syndrome.
I just want to know what it is.
So, the chase is on. I feel like it has always been winning, evading me by making me fear it, then hiding itself behind illnesses that took first priority of our attention. It runs from me and uses insurance companies, busy doctors, and unreliable, nonspecific, and slow advancing genetic testing to remain always out of reach. It plays games with me, making me want it one minute and not care for it the next. It uses my patience, my anxiety, my time, my money, my sanity, my marriage and my child to turn me into a someone I barely recognize anymore. And despite all of this, I am so thankful for it.
I fear it sometimes, but I don't wish it away.
I have already accepted that it is here. I'm not running anymore. I forgive it for making us worry, and for making my baby struggle. I accept that it is in control of her body. I will live every day of my life teaching my daughter, family, friends, doctors, teachers and society how to adapt, adjust, embrace and accept it. I just want to put a name to it, so I can say that finally, the chase is over.
Since learning of Kabuki Syndrome 6 days ago, I feel like I am getting closer. Like the hunt is intensifying as it reaches the final moments before revealing itself to me. But the harder I push to find it, the more I wonder if I will ever, for sure, know the truth. And if not, will I ever, really, be able to accept that and move on peacefully?
I do know that this child of mine has a spirit made of pure light. I have often heard that people who are blind or deaf use their other senses to overcompensate for the loss of the other. Isabella's body isn't perfect. It is weak and fragile and different. But her spirit is amazing. It is strong, it is innocent, it is powerful, and it is loving. It overcompensates for all that her body is unable to do. That little body is just the host so that her spirit can light up her corner of the world while she is here.
I can't believe the amount of love and support I have been surrounded by in this past week. So many of my friends and family are calling, texting, writing and visiting, checking in on us and loving up our girl even more than normal. I appreciate all of you for helping me, and for loving Isabella so much.
I have also found SO MANY wonderful people through Kabuki forums, blogs, and facebook. I have never before felt so uplifted by so many hands, accepting me and guiding me through this process. I can't tell you how good it feels to see pictures of each of your beautiful children, whom all look so similar to my own little love, and to feel like I have finally found Isabella's community. You all, who live so far from me, some of whom I have yet to even speak with yet, already feel like a kind of family to me.
My heart says Kabuki.
My brain says Kabuki.
The Internet says Kabuki.
But I'm still not sure.
So the chase goes on.
Friday, March 11, 2011
Kabuki
:::::::::::::WARNING! ANOTHER SUPER LONG POST! someday I'll learn to be brief, but unfortunately, I'm not even going to try today:::::::::::::::::
Genetics appointment recap... Let me start by saying that I have never spent as much time in an appointment (and we've had MANY) with an actual doctor. Our appointment yesterday started at noon and I got back to my car at 3:45...I was with the geneticist that entire time. Talk about a thorough doctor!
I had an idea in my mind how the appointment would go and what we would and wouldn't learn. I figured we would recap Isabella's medical history, the doctor would take some measurements of her body, and we would maybe have some blood drawn to submit for some more chromosomal tests. I didn't think we would leave there with much new knowledge, but rather hope that we could still find answers and an arrow that would point to where we could possibly search for a diagnosis.
To say that the appointment wasn't what I was expecting was an understatement.
Let me back up. The day started horribly. I was running around trying to pack diaper bags, snack bags, activity bags, and sippy cups. I was trying to get us all dressed and fed and out the door on time, and I would have until I remembered that I needed gas and cash for parking. I was rushing more than normal because I hate to be late, and so when I was making Isabella's breakfast and I saw her attempting to climb up onto her booster chair by herself I didn't rush over to her like I normally do to guard her if she were to lose her balance. Big mistake. She was just about up onto the chair (bar stool height chair I might add) when she completely fell backwards, smacking her back and then her head onto to floor. She made an odd sounding cry and I ran to her and scooped her up, waiting impatiently for that first deep breath after a major sobbing cry. It never came. She couldn't catch her breath, and completely went out, while her body flailed involuntarily for air. I was screaming at her to breathe and I was blowing air into her face trying to get her to react. Finally she took a few shallow breaths and whimpered a bit. She was white as a ghost, but she was breathing. I was shaking like crazy. She cried for a while and then asked me to get her "cozy under the warm blanket" on the couch. She was super pale for about 2 hours but her pupils, breathing, and alertness seemed normal.
So if I wasn't a wreck already, that started our big genetics appointment day off with a bang. It was pouring, but the drive to Cleveland went off without a hitch. Parking was a big pain, but we made it to the genetics offices on time. I first met with the genetic counselor who asked me all of the questions I was expecting, detailing my pregnancy with Bells up to how she is doing currently. The doctor came in and it was obvious immediately that she had done her homework. Without even having to look at her chart on the computer, she started asking me specific questions she had about some of the holes in Isabella's history that she needed more info on, and if I wanted to add anything to what she already knew. Then the physical part of the exam began.
I think one of the hardest parts of dealing with searching for a diagnosis is having people pull her apart and point to every feature she has trying to find fault in it as compared to the general population. Things that I just love about her become an anomaly to a doctor. I had no idea when she was born that her adorable second toe on both of her feet that lies slightly on top of her big toe almost as if it was stuck in there as an afterthought, would signal something was askew with her genetic material. I didn't know that her sweet ears that are cupped so perfectly and slightly stick out (just enough to tuck hair behind perfectly) and that sweet little dimple right next to her right ear meant that she was going to have to have test after test to find answers later on.
I have known for a long time that her eyes are widely spaced, that she has a low laying nasal bridge. That she has epicanthal folds, and that her muscle tone is ridiculously low. I've noticed along the way that her neck is slightly shorter than normal, that her mouth hangs open too often, that her palate is insanely high and arched. I have finally accepted that some of these features that make her so adorable to me also make her a statistic to a genetic beast without a name. But I didn't know until yesterday just how much of her body was affected by this glitch in her makeup.
Apparently her cupped ears are just too cupped. Her eyes are not only too widely spaced with the epicanthal folds and the low nasal bridge, but they are also too long from corner to corner. Her eyelashes are too thick, her eye brows are too sparse. Her nose is too short, her lips too thin. Her cheeks are too round and droopy, her skin is too rosy and dry, her teeth are too widely spaced. Her high arched palate is waaay too high (the highest the doc had ever seen) and she probably shouldn't have that underbite. Her mouth turns down too much, her top lip is too tented, her dimple on her ear shouldn't be there. Her hairline on the back of her neck is too low. Her neck is indeed too short and too broad. Her muscle tone is far too weak, her joints too flexible. Her nipples are too widely spaced. Her dimple above her butt shouldn't be there. Her toes shouldn't overlap, her big toe is too big. Her toenails that grow upward just aren't normal.
The list went on and on. Nothing about my perfect child is normal. Part of me felt like I was getting beaten up with every body part that was named off by the doctor to be recorded into her chart by the genetic counselor. Part of me was screaming and crying and wanting them to stop and to always believe that these parts of who she is mean nothing. But the other part of me was saying "YES!! finally we are getting somewhere. Finally we aren't beating around the bush, pretending that everything means nothing. Beat me up more if it means we will find out WHY."
Who knew that her perfect hands might hold the answer?
The doctor held up Isabella's hand to examine. She first looked at the creases on the palms of her hands, as I have done many times searching for that one line that could mean downs syndrome. It isn't there. In fact, unlike most of the "normal" population who have three dominant folds on our hands, Isabella doesn't have ANY dominant folds. Oh, there are wrinkles all over but they aren't very deep. There aren't any that stand out, and they are very random.
The geneticist then asked me if Isabella moved much while I was pregnant with her. Good question. She was my first, I answered, so I thought so. I didn't know how much a baby was supposed to move, but I felt her in there, and she always passed my kick counts. But I didn't realize until I was pregnant with Noah how much more she should have moved. How much stronger her kicks should have been. I didn't know.
She said that it is evident that Isabella hasn't been moving properly since conception. Those folds on our hands are formed by clenching our muscles in them and using them from the time they are formed. The fact that she doesn't have deep or dominant folds means that she has never, since conception, been using them "normally".
Okay. 'Learn something new every day', I thought. Still wasn't ground breaking. The kid has hypotonia, afterall. And that, too has been there since conception.
The doc then moved her eyes upward to Isabella's fingers. I looked at her fingertip and saw the blood blister on her middle finger that she got last week when Noah pinched it in my bedroom door. "That's not a mole" I told the doctor. I explained the blood blister but she wasn't listening. She was engrossed with the pads of her fingers. She kept looking at them, and then looking at the genetic counselor, and then back at the fingertips. She started to say "persistent fetal finger pads" for the counselor to record, but she stopped after saying it and looked right at me.
"I have to look something up. We will be right back."
And they were gone. All three of them (there was a medical student in there too). I was so confused. Yeah, I have noticed the pads on Isabella's fingers. They aren't too exceptional to me. They just look like a little bit of extra fat of fluid or something under the fingerprint of every finger, but they aren't noticeable or odd looking. Just cute. I have gone over Isabella's features with a fine toothed comb searching for things that could be part of her "syndrome" but never in a million years did I think that her fingertips could mean anything.
The doctors were gone for awhile. I don't know how long exactly, because I was a nervous wreck. I absently read to Noah, broke up fights between he and Isabella when they both wanted the same book. I had been told earlier in the appointment that Isabella had already had every chromosomal/genetic test that could be done at that point, and that if we wanted to pursue an answer now, we would have to target each and every gene individually looking for an abnormality. That means we would need a specific syndrome in mind when we went to do the testing on individual genes, because they don't typically just start testing randomly... time and money (each test runs in the thousands) were against us.
When the doctor finally came back into the room, she was alone. And she had about three thick books open in her arms. She sat down next to me and didn't say anything for a moment. The genetic counselor then came in and looked at the doctor oddly, trying to tell her something with her eyes. The doctor said "what is it?" and the counselor responded "3000"... I didn't know what that meant, but I could tell that it wasn't good.
The doctor looked back to me.
"I don't know what your daughter has," she told me "but I do know that she doesn't look like you. She doesn't look like your son. She may have some resemblance to family members, but she has more features than not that make her look unique. When you start to put one or two of her physical findings together, they point to a genetic anomaly. When you add in all the ones I've found, you start to narrow it down. But honestly, there are hundreds of syndromes that present with hypotonia, low nasal bridges, and epicanthal folds. She has a lot of the typical signs for many different genetic syndromes."
At this point I was ready to rip those books out of her arms and freaking find out for myself what she was getting at. I KNOW this, I wanted to yell. I have self diagnosed this child 20 times already. I have googled and searched and wrongdiagnosed and googled some more. So what the heck does it all mean already??
***side note, I'm quoting the doctor the best I remember it happening. I wish I had a tape recorder at these appointments because I always seem to forget something, that's why it is important for me to write down now everything I remember the doc saying to me... I'm sure it wasn't exactly these words in this order, but this is how I remember hearing it*****
"What I am most impressed about with your daughter is the pads on her fingers. This finding isn't as common as some of the others. We are all born with these pads, but after infancy they fade away. We have seen in some syndromes that they never go away, and then we call them persistent fetal finger pads. Your daughter has these. When you pair them with some of the other physical characteristics your daughter has, it narrows it down more to less possible syndromes. The one of these that I think fits your daughter best is something that is a relatively new syndrome. Not new in that it hasn't been around forever, but new to being labeled and identified as a syndrome. It was discovered in 1981, and until 6 months ago, there was no lab test that could be done to identify it. All diagnosis were made on a clinical basis."
OKAY SERIOUSLY LADY. Just out with it. I don't want to know the history of the syndrome before even knowing it's name.
"The test that is available now is for a particular gene that has been found to be abnormal in 2/3 of the people who have been diagnosed with this syndrome. That means that there are 1/3 of people who we know to have been clinically diagnosed that this gene is normal in. So test might not tell you for sure whether your daughter has the syndrome. But it might. Only about 3 labs in the country test for this, and it is very expensive, around $3000."
Finally she took one of the books and turned it right side up to the page she had marked. I looked down and pictures of 4 or 5 little kids stared back at me. Kids who looked pretty flipping similar to how my girl looks.
Kabuki syndrome. Kabuki syndrome. Kabuki syndrome. Those words have been repeating themselves in my mind from the moment the doctor said them. Like a song I can't get out of my head. I literally woke up numerous times last night and those words were already in my mind, still on repeat, still trying to decide whether they want to threaten or befriend me.
So to lay it all out, no, we don't have a definite diagnosis. No, she doesn't fit ALL of the symptoms that the syndrome has, especially some of the major medically debilitating ones like heart defects and kidney problems. Some kids with Kabuki Syndrome have high arched eyebrows that are thinner on the outer edges. Bella has kind of sparse eyebrows, but they aren't at all arched. Kabuki kids typically have large protruding cupped ears. Hers are cupped, but of normal size.
Not everything fits. But a crazy amount does. From her panic like reaction to some sensory stimuli to her overly happy demeanor. Most kids have frequent upper respiratory infections and many ear infections (yup). They have a lot of the other odd physical characteristics that Bells displays (especially the high pitched nasally voice, the cleft or high arched palate, the hypotonia, the many parts about her eyes that are different, the finger pads) but the behavioral ones just as astoundingly similar... (feel free to skip all the following traits that she shares, I'm writing them down now while they are freshest so I have something to refer back to later...)
What Isabella shares with people diagnosed with Kabuki Syndrome:
thick eyelashes, long palpebral fissures (measurement from inner corner to outer corner of the eye), sparse eyebrows (Bella's are too sparse, but mildly) prominent or cupped ears, depressed nasal tip, short nasal septum, flat nasal bridge, broad nasal root, epicanthus, small fifth finger, persistent fetal finger pads, developmental delay, hypotonia, hyper extensible joints, feeding difficulties (in infancy with bells), recurrent infections (especially ears), small mouth, thin upper lip, high arched palate, misalignment of teeth, seizures, ptosis (drooping of upper eyelid), droopy skin under the eyes, preauricular pits (dimples in front of ears), sensory integration dysfunction, delay in speech, poor coordination, tactile defensiveness toward certain sensations and stimuli, panic-like reactions to some noises, aversion to some foods/textures, fixation on certain thoughts or activities (with bells she tends to repeat questions or statements over and over even after we have acknowledged what she has said. she also fixates on certain events, such as the time Noah opened the door and let the cat in the house on accident, and she will talk about them daily for months), excellent memory- especially for song lyrics, dates, numbers, etc., some autistic type behaviors, poor sucking/swallowing in infancy, reflux, undiagnosed periodic diarrhea, nail/skin abnormalities, rosy and dry appearance to cheeks, foot and gait issues, sensitivity to oral stimulus, poor sensory integration and proprioceptive skills, interest in music and rhythm, slow weight gain as infant, poor sleeping as infant, weak facial muscles, picky eating (like many Kabuki kids, Bells is selective in what she eats and only eats a few things obsessively for a period of time, then will occasionally change what those foods are), better receptive than expressive skills, drooling, strong gag reflex, wide set nipples, low posterior hairline, flat footed, very social, poor eye contact, happy disposition, excessive need for affection and praise, repeats certain phrases/words/questions over and over, intellectual disability, sensory/motor integration delay, gross motor delay, fine motor delay, motor planning delay, sacral dimple (in tailbone), decreased body awareness, sensitivity to loud noises, history of having petechiae.
Things Typical in Kabuki Syndrome that Isabella does NOT exhibit: (biggest missing links seem to be lack of skeletal, caradiac, and renal problems as well as the arched eyebrows and large ears)
Larger than normal ears, lower palpebral eversion, arched eyebrows, divergent squint, strabismus, poor eyesight, hearing loss, cardiac abnormalities, failure to thrive, kidney abnormalities (although she has had one major UTI and Kidney infection that landed her in the hospital for a week), small stature (but it may be too early to say...Nik isn't the tallest guy to get height dna from!), delayed bone growth, scoliosis, tantrums and difficulty to calm, self injurious behaviors (we are so lucky, we really dont have any behavioral struggles beyond having to remind her of appropriate social behavior such as not hugging strangers), hyperactivity, some skeletal abnormalities, OCD traits.
OKAY! so what does all of this mean???
Good question. Number one, we need to find out if BCMH will cover the cost of the genetic test. If so, we will do it, and if it is positive, then we have our diagnosis. If it is negative, she still may have Kabuki, since that particular gene does not seem to be the only one that needs to be abnormal in order for Kabuki syndrome to present. Number two: we need to get yet another ENT to scope her nose and throat. With such a high palate and nasal voice, it is possible that she has a cleft somewhere that we are unaware of. If so, chalk one more up to her similarities to people with Kabuki. Number three: talk to her neurologist about having the Sedated MRI (ughhhh!). I totally don't want to do this one, especially since kids with low muscle tone tend to have some difficulties with sedation. But if he says we should, we can A. check the lactic acid levels in her brain to (hopefully) rule out a metabolic disorder and B. see if any brain abnormalities (hydrocephalus) are present that are also present in Kabuki patients. If so, chalk another one up to Kabuki.
Okay, Information Overload, I know. I really just wrote all of this down so I know where I need to search, what I need to do, and how I feel about her having this syndrome. It seems so real. I feel like she has enough of the similarities to fit the bill, but the geneticist and I both agree that there isn't quite enough to give her the clinical diagnosis yet. If we find more correlations or if the genetic test comes back positive, we will re-evaluate, but for now we are kind of at a stand still. There are still some bigger features that she doesn't have, so I just don't know what to think. I guess I have more research to do.
So now the major important stuff (haha, as if all of the above wasn't major or important.) If this is what Isabella has, IT IS NOT PROGRESSIVE!!! meaning, she will always have the issues that she has, but nothing should necessarily get any WORSE per say, meaning she shouldn't have any loss of already acquired skills. While she has already had an echo that showed no heart abnormalities, and test on her kidneys while she was hospitalized for the infections that showed no abnormalities, I would like to have these rechecked at some time just to make sure.
Also, she shouldn't have a shortened life span because of this syndrome. (HUGE sigh of relief!)
It is unknown how much of this is passed on and how much is a mutation in her dna. I have read that both can occur to cause Kabuki syndrome. I asked the doctor what she thought our HIGHEST chances are of passing this on if it is indeed genetically linked to Nik and I (which we could only know if we each wanted to take the $3000 test and have only a 66% chance of accuracy) and the doctors response was exactly what I thought...25%. But that doesn't mean that we KNOW we have a 25% chance of passing it on. Only that if we are both carriers, that would be the HIGHEST likelihood possible of passing it on. A lot of what I'm reading shows that this may be a sporadic mutuation in most people. I can only hope that is the case with us.
So overall, I'm okay. I know that Isabella's life will be affected by whatever genetic condition she has. Because it already has been. I could write all night about how I am feeling about all of this and all of the thoughts I have been thinking, but I think this is long enough for one post. Trust me, there will be many more coming soon, because I need to clear my mind. But in a way, I almost hope that this is what it is so I can be done with our search. It isn't a horrible condition to have. It doesn't change who she already is or who she is already destined to become. It doesn't change what we are doing to help her or to what extents we are willing to go to to change her world. It only makes me love her more, understand her more, and give her my patience more. Nik and I were just talking about how we almost feel lucky and blessed that this happened to us because even though whatever syndrome she has doesn't define her, it does contribute in a major way to who she is. And I honestly wouldn't have her any other way.
Believe it or not, I am leaving so many holes in this story as to how I feel and what comes next, but it's time to snuggle my loves and go to bed. Once again, I apologize for the longest post in the history of blogs, but I had to purge some of all these medical terms so that I never have to make this list again! I feel like this could possibly be the end of this lonnng search for answers, but at the same time only the beginning. Which is good and bad and scary and exciting and happy and sad all at the same time. I had no idea I could feel so many emotions all at one time, and it's physically and mentally draining, while at the same time it makes me manic to want to learn more. I'm not sure how to describe exactly what I am feeling...
But guess what? Tonight, my anxiety is on vacation.
...more to come
ps...isn't she perfect?
Genetics appointment recap... Let me start by saying that I have never spent as much time in an appointment (and we've had MANY) with an actual doctor. Our appointment yesterday started at noon and I got back to my car at 3:45...I was with the geneticist that entire time. Talk about a thorough doctor!
I had an idea in my mind how the appointment would go and what we would and wouldn't learn. I figured we would recap Isabella's medical history, the doctor would take some measurements of her body, and we would maybe have some blood drawn to submit for some more chromosomal tests. I didn't think we would leave there with much new knowledge, but rather hope that we could still find answers and an arrow that would point to where we could possibly search for a diagnosis.
To say that the appointment wasn't what I was expecting was an understatement.
Let me back up. The day started horribly. I was running around trying to pack diaper bags, snack bags, activity bags, and sippy cups. I was trying to get us all dressed and fed and out the door on time, and I would have until I remembered that I needed gas and cash for parking. I was rushing more than normal because I hate to be late, and so when I was making Isabella's breakfast and I saw her attempting to climb up onto her booster chair by herself I didn't rush over to her like I normally do to guard her if she were to lose her balance. Big mistake. She was just about up onto the chair (bar stool height chair I might add) when she completely fell backwards, smacking her back and then her head onto to floor. She made an odd sounding cry and I ran to her and scooped her up, waiting impatiently for that first deep breath after a major sobbing cry. It never came. She couldn't catch her breath, and completely went out, while her body flailed involuntarily for air. I was screaming at her to breathe and I was blowing air into her face trying to get her to react. Finally she took a few shallow breaths and whimpered a bit. She was white as a ghost, but she was breathing. I was shaking like crazy. She cried for a while and then asked me to get her "cozy under the warm blanket" on the couch. She was super pale for about 2 hours but her pupils, breathing, and alertness seemed normal.
So if I wasn't a wreck already, that started our big genetics appointment day off with a bang. It was pouring, but the drive to Cleveland went off without a hitch. Parking was a big pain, but we made it to the genetics offices on time. I first met with the genetic counselor who asked me all of the questions I was expecting, detailing my pregnancy with Bells up to how she is doing currently. The doctor came in and it was obvious immediately that she had done her homework. Without even having to look at her chart on the computer, she started asking me specific questions she had about some of the holes in Isabella's history that she needed more info on, and if I wanted to add anything to what she already knew. Then the physical part of the exam began.
I think one of the hardest parts of dealing with searching for a diagnosis is having people pull her apart and point to every feature she has trying to find fault in it as compared to the general population. Things that I just love about her become an anomaly to a doctor. I had no idea when she was born that her adorable second toe on both of her feet that lies slightly on top of her big toe almost as if it was stuck in there as an afterthought, would signal something was askew with her genetic material. I didn't know that her sweet ears that are cupped so perfectly and slightly stick out (just enough to tuck hair behind perfectly) and that sweet little dimple right next to her right ear meant that she was going to have to have test after test to find answers later on.
I have known for a long time that her eyes are widely spaced, that she has a low laying nasal bridge. That she has epicanthal folds, and that her muscle tone is ridiculously low. I've noticed along the way that her neck is slightly shorter than normal, that her mouth hangs open too often, that her palate is insanely high and arched. I have finally accepted that some of these features that make her so adorable to me also make her a statistic to a genetic beast without a name. But I didn't know until yesterday just how much of her body was affected by this glitch in her makeup.
Apparently her cupped ears are just too cupped. Her eyes are not only too widely spaced with the epicanthal folds and the low nasal bridge, but they are also too long from corner to corner. Her eyelashes are too thick, her eye brows are too sparse. Her nose is too short, her lips too thin. Her cheeks are too round and droopy, her skin is too rosy and dry, her teeth are too widely spaced. Her high arched palate is waaay too high (the highest the doc had ever seen) and she probably shouldn't have that underbite. Her mouth turns down too much, her top lip is too tented, her dimple on her ear shouldn't be there. Her hairline on the back of her neck is too low. Her neck is indeed too short and too broad. Her muscle tone is far too weak, her joints too flexible. Her nipples are too widely spaced. Her dimple above her butt shouldn't be there. Her toes shouldn't overlap, her big toe is too big. Her toenails that grow upward just aren't normal.
The list went on and on. Nothing about my perfect child is normal. Part of me felt like I was getting beaten up with every body part that was named off by the doctor to be recorded into her chart by the genetic counselor. Part of me was screaming and crying and wanting them to stop and to always believe that these parts of who she is mean nothing. But the other part of me was saying "YES!! finally we are getting somewhere. Finally we aren't beating around the bush, pretending that everything means nothing. Beat me up more if it means we will find out WHY."
Who knew that her perfect hands might hold the answer?
The doctor held up Isabella's hand to examine. She first looked at the creases on the palms of her hands, as I have done many times searching for that one line that could mean downs syndrome. It isn't there. In fact, unlike most of the "normal" population who have three dominant folds on our hands, Isabella doesn't have ANY dominant folds. Oh, there are wrinkles all over but they aren't very deep. There aren't any that stand out, and they are very random.
The geneticist then asked me if Isabella moved much while I was pregnant with her. Good question. She was my first, I answered, so I thought so. I didn't know how much a baby was supposed to move, but I felt her in there, and she always passed my kick counts. But I didn't realize until I was pregnant with Noah how much more she should have moved. How much stronger her kicks should have been. I didn't know.
She said that it is evident that Isabella hasn't been moving properly since conception. Those folds on our hands are formed by clenching our muscles in them and using them from the time they are formed. The fact that she doesn't have deep or dominant folds means that she has never, since conception, been using them "normally".
Okay. 'Learn something new every day', I thought. Still wasn't ground breaking. The kid has hypotonia, afterall. And that, too has been there since conception.
The doc then moved her eyes upward to Isabella's fingers. I looked at her fingertip and saw the blood blister on her middle finger that she got last week when Noah pinched it in my bedroom door. "That's not a mole" I told the doctor. I explained the blood blister but she wasn't listening. She was engrossed with the pads of her fingers. She kept looking at them, and then looking at the genetic counselor, and then back at the fingertips. She started to say "persistent fetal finger pads" for the counselor to record, but she stopped after saying it and looked right at me.
"I have to look something up. We will be right back."
And they were gone. All three of them (there was a medical student in there too). I was so confused. Yeah, I have noticed the pads on Isabella's fingers. They aren't too exceptional to me. They just look like a little bit of extra fat of fluid or something under the fingerprint of every finger, but they aren't noticeable or odd looking. Just cute. I have gone over Isabella's features with a fine toothed comb searching for things that could be part of her "syndrome" but never in a million years did I think that her fingertips could mean anything.
The doctors were gone for awhile. I don't know how long exactly, because I was a nervous wreck. I absently read to Noah, broke up fights between he and Isabella when they both wanted the same book. I had been told earlier in the appointment that Isabella had already had every chromosomal/genetic test that could be done at that point, and that if we wanted to pursue an answer now, we would have to target each and every gene individually looking for an abnormality. That means we would need a specific syndrome in mind when we went to do the testing on individual genes, because they don't typically just start testing randomly... time and money (each test runs in the thousands) were against us.
When the doctor finally came back into the room, she was alone. And she had about three thick books open in her arms. She sat down next to me and didn't say anything for a moment. The genetic counselor then came in and looked at the doctor oddly, trying to tell her something with her eyes. The doctor said "what is it?" and the counselor responded "3000"... I didn't know what that meant, but I could tell that it wasn't good.
The doctor looked back to me.
"I don't know what your daughter has," she told me "but I do know that she doesn't look like you. She doesn't look like your son. She may have some resemblance to family members, but she has more features than not that make her look unique. When you start to put one or two of her physical findings together, they point to a genetic anomaly. When you add in all the ones I've found, you start to narrow it down. But honestly, there are hundreds of syndromes that present with hypotonia, low nasal bridges, and epicanthal folds. She has a lot of the typical signs for many different genetic syndromes."
At this point I was ready to rip those books out of her arms and freaking find out for myself what she was getting at. I KNOW this, I wanted to yell. I have self diagnosed this child 20 times already. I have googled and searched and wrongdiagnosed and googled some more. So what the heck does it all mean already??
***side note, I'm quoting the doctor the best I remember it happening. I wish I had a tape recorder at these appointments because I always seem to forget something, that's why it is important for me to write down now everything I remember the doc saying to me... I'm sure it wasn't exactly these words in this order, but this is how I remember hearing it*****
"What I am most impressed about with your daughter is the pads on her fingers. This finding isn't as common as some of the others. We are all born with these pads, but after infancy they fade away. We have seen in some syndromes that they never go away, and then we call them persistent fetal finger pads. Your daughter has these. When you pair them with some of the other physical characteristics your daughter has, it narrows it down more to less possible syndromes. The one of these that I think fits your daughter best is something that is a relatively new syndrome. Not new in that it hasn't been around forever, but new to being labeled and identified as a syndrome. It was discovered in 1981, and until 6 months ago, there was no lab test that could be done to identify it. All diagnosis were made on a clinical basis."
OKAY SERIOUSLY LADY. Just out with it. I don't want to know the history of the syndrome before even knowing it's name.
"The test that is available now is for a particular gene that has been found to be abnormal in 2/3 of the people who have been diagnosed with this syndrome. That means that there are 1/3 of people who we know to have been clinically diagnosed that this gene is normal in. So test might not tell you for sure whether your daughter has the syndrome. But it might. Only about 3 labs in the country test for this, and it is very expensive, around $3000."
Finally she took one of the books and turned it right side up to the page she had marked. I looked down and pictures of 4 or 5 little kids stared back at me. Kids who looked pretty flipping similar to how my girl looks.
Kabuki syndrome. Kabuki syndrome. Kabuki syndrome. Those words have been repeating themselves in my mind from the moment the doctor said them. Like a song I can't get out of my head. I literally woke up numerous times last night and those words were already in my mind, still on repeat, still trying to decide whether they want to threaten or befriend me.
So to lay it all out, no, we don't have a definite diagnosis. No, she doesn't fit ALL of the symptoms that the syndrome has, especially some of the major medically debilitating ones like heart defects and kidney problems. Some kids with Kabuki Syndrome have high arched eyebrows that are thinner on the outer edges. Bella has kind of sparse eyebrows, but they aren't at all arched. Kabuki kids typically have large protruding cupped ears. Hers are cupped, but of normal size.
Not everything fits. But a crazy amount does. From her panic like reaction to some sensory stimuli to her overly happy demeanor. Most kids have frequent upper respiratory infections and many ear infections (yup). They have a lot of the other odd physical characteristics that Bells displays (especially the high pitched nasally voice, the cleft or high arched palate, the hypotonia, the many parts about her eyes that are different, the finger pads) but the behavioral ones just as astoundingly similar... (feel free to skip all the following traits that she shares, I'm writing them down now while they are freshest so I have something to refer back to later...)
What Isabella shares with people diagnosed with Kabuki Syndrome:
thick eyelashes, long palpebral fissures (measurement from inner corner to outer corner of the eye), sparse eyebrows (Bella's are too sparse, but mildly) prominent or cupped ears, depressed nasal tip, short nasal septum, flat nasal bridge, broad nasal root, epicanthus, small fifth finger, persistent fetal finger pads, developmental delay, hypotonia, hyper extensible joints, feeding difficulties (in infancy with bells), recurrent infections (especially ears), small mouth, thin upper lip, high arched palate, misalignment of teeth, seizures, ptosis (drooping of upper eyelid), droopy skin under the eyes, preauricular pits (dimples in front of ears), sensory integration dysfunction, delay in speech, poor coordination, tactile defensiveness toward certain sensations and stimuli, panic-like reactions to some noises, aversion to some foods/textures, fixation on certain thoughts or activities (with bells she tends to repeat questions or statements over and over even after we have acknowledged what she has said. she also fixates on certain events, such as the time Noah opened the door and let the cat in the house on accident, and she will talk about them daily for months), excellent memory- especially for song lyrics, dates, numbers, etc., some autistic type behaviors, poor sucking/swallowing in infancy, reflux, undiagnosed periodic diarrhea, nail/skin abnormalities, rosy and dry appearance to cheeks, foot and gait issues, sensitivity to oral stimulus, poor sensory integration and proprioceptive skills, interest in music and rhythm, slow weight gain as infant, poor sleeping as infant, weak facial muscles, picky eating (like many Kabuki kids, Bells is selective in what she eats and only eats a few things obsessively for a period of time, then will occasionally change what those foods are), better receptive than expressive skills, drooling, strong gag reflex, wide set nipples, low posterior hairline, flat footed, very social, poor eye contact, happy disposition, excessive need for affection and praise, repeats certain phrases/words/questions over and over, intellectual disability, sensory/motor integration delay, gross motor delay, fine motor delay, motor planning delay, sacral dimple (in tailbone), decreased body awareness, sensitivity to loud noises, history of having petechiae.
Things Typical in Kabuki Syndrome that Isabella does NOT exhibit: (biggest missing links seem to be lack of skeletal, caradiac, and renal problems as well as the arched eyebrows and large ears)
Larger than normal ears, lower palpebral eversion, arched eyebrows, divergent squint, strabismus, poor eyesight, hearing loss, cardiac abnormalities, failure to thrive, kidney abnormalities (although she has had one major UTI and Kidney infection that landed her in the hospital for a week), small stature (but it may be too early to say...Nik isn't the tallest guy to get height dna from!), delayed bone growth, scoliosis, tantrums and difficulty to calm, self injurious behaviors (we are so lucky, we really dont have any behavioral struggles beyond having to remind her of appropriate social behavior such as not hugging strangers), hyperactivity, some skeletal abnormalities, OCD traits.
OKAY! so what does all of this mean???
Good question. Number one, we need to find out if BCMH will cover the cost of the genetic test. If so, we will do it, and if it is positive, then we have our diagnosis. If it is negative, she still may have Kabuki, since that particular gene does not seem to be the only one that needs to be abnormal in order for Kabuki syndrome to present. Number two: we need to get yet another ENT to scope her nose and throat. With such a high palate and nasal voice, it is possible that she has a cleft somewhere that we are unaware of. If so, chalk one more up to her similarities to people with Kabuki. Number three: talk to her neurologist about having the Sedated MRI (ughhhh!). I totally don't want to do this one, especially since kids with low muscle tone tend to have some difficulties with sedation. But if he says we should, we can A. check the lactic acid levels in her brain to (hopefully) rule out a metabolic disorder and B. see if any brain abnormalities (hydrocephalus) are present that are also present in Kabuki patients. If so, chalk another one up to Kabuki.
Okay, Information Overload, I know. I really just wrote all of this down so I know where I need to search, what I need to do, and how I feel about her having this syndrome. It seems so real. I feel like she has enough of the similarities to fit the bill, but the geneticist and I both agree that there isn't quite enough to give her the clinical diagnosis yet. If we find more correlations or if the genetic test comes back positive, we will re-evaluate, but for now we are kind of at a stand still. There are still some bigger features that she doesn't have, so I just don't know what to think. I guess I have more research to do.
So now the major important stuff (haha, as if all of the above wasn't major or important.) If this is what Isabella has, IT IS NOT PROGRESSIVE!!! meaning, she will always have the issues that she has, but nothing should necessarily get any WORSE per say, meaning she shouldn't have any loss of already acquired skills. While she has already had an echo that showed no heart abnormalities, and test on her kidneys while she was hospitalized for the infections that showed no abnormalities, I would like to have these rechecked at some time just to make sure.
Also, she shouldn't have a shortened life span because of this syndrome. (HUGE sigh of relief!)
It is unknown how much of this is passed on and how much is a mutation in her dna. I have read that both can occur to cause Kabuki syndrome. I asked the doctor what she thought our HIGHEST chances are of passing this on if it is indeed genetically linked to Nik and I (which we could only know if we each wanted to take the $3000 test and have only a 66% chance of accuracy) and the doctors response was exactly what I thought...25%. But that doesn't mean that we KNOW we have a 25% chance of passing it on. Only that if we are both carriers, that would be the HIGHEST likelihood possible of passing it on. A lot of what I'm reading shows that this may be a sporadic mutuation in most people. I can only hope that is the case with us.
So overall, I'm okay. I know that Isabella's life will be affected by whatever genetic condition she has. Because it already has been. I could write all night about how I am feeling about all of this and all of the thoughts I have been thinking, but I think this is long enough for one post. Trust me, there will be many more coming soon, because I need to clear my mind. But in a way, I almost hope that this is what it is so I can be done with our search. It isn't a horrible condition to have. It doesn't change who she already is or who she is already destined to become. It doesn't change what we are doing to help her or to what extents we are willing to go to to change her world. It only makes me love her more, understand her more, and give her my patience more. Nik and I were just talking about how we almost feel lucky and blessed that this happened to us because even though whatever syndrome she has doesn't define her, it does contribute in a major way to who she is. And I honestly wouldn't have her any other way.
Believe it or not, I am leaving so many holes in this story as to how I feel and what comes next, but it's time to snuggle my loves and go to bed. Once again, I apologize for the longest post in the history of blogs, but I had to purge some of all these medical terms so that I never have to make this list again! I feel like this could possibly be the end of this lonnng search for answers, but at the same time only the beginning. Which is good and bad and scary and exciting and happy and sad all at the same time. I had no idea I could feel so many emotions all at one time, and it's physically and mentally draining, while at the same time it makes me manic to want to learn more. I'm not sure how to describe exactly what I am feeling...
But guess what? Tonight, my anxiety is on vacation.
...more to come
ps...isn't she perfect?
Tuesday, March 8, 2011
Reader Beware
...I'm in rare form this week. But sadly, rare form is seeming more and more like normal, and I'm not a fan.
It's been so long since I've written, mostly because of a bad case of writer's block mixed with kids who really can't stay self satisfied for more than two minutes at a time. But also because I'm totally weighed down with anxiety lately, and I was afraid that writing about all of the things I'm worried about will only make me dwell on them more... but I've gotten to the point where I have to do something about all my crazy emotions, and writing has never let me down in the past, so here I go.
Bells has an apt. with the geneticist on Thursday. I'm so nervous. I go back and forth between wanting to know and wanting to live in a land that isn't quite denial (just not possible anymore) but is more like not wanting to commit to a label that might be more debilitating later on than we even can imagine. I can't believe that back when I thought she might have mosaic downs syndrome I was completely torn apart for weeks. Now, a diagnosis that "benign" would have me thanking God for sparing us of all the other "could be's" that are so much worse. Especially metabolic disorders.
But even if it isn't a metabolic disorder, I'm still terrified. I have always dreamed that a family with four kids is the only way to feel complete. After having Noah (which happened to be around the time I accepted that there was something different with Isabella) I even accepted that maybe, MAYBE I could live with just having three. But two? No way.... I'm totally not done toting a newborn in my sling, listening to the sighs and cat like meow cries. Totally not done struggling through either nursing successfully or weaning successfully. Totally not done feeling the pride of having people look at my brand new baby in public. Totally not done watching my husband nervously fret about supporting that bobbing fragile head while holding a newborn for the first month. Totally not done teaching my kids about how to be good big siblings. Totally. Not. Done.
So what if? What if this doctor, while searching for a diagnosis, agrees with the SIX other doctors that believe that she has a genetic disorder? What if, whether she ever can find what is wrong or not, she tells me that the chances of Nik and I passing this on to another child are just to high to ignore? What if whatever Isabella has can show up worse in another baby? Because to be honest, if we were guaranteed six more babies JUST like Bells, I'd think I won the lottery. But what if I had a baby that needed more? That struggled more? That I worried about more? That just isn't healthy enough to survive?
I know that I won't leave the appointment on Thursday with any definite answers. Best case scenario, this new doc can give us a direction in which to start testing with more accuracy, and can give me a very vague and general idea of where we stand in passing possible genetic faults on to future babies. Which of course will only lead me into a whole all too familiar world of anxiety from waiting for answers so I can decide what to do. When all I really want is for someone else to make all the decisions for me right now because I'm thisclose to giving up this week.
In other news, I'm seriously starting to think I have hypochondria. All this worrying about what Isabella's symptoms and syndromes mean has me convinced I'm dying of something that I don't know about yet. Talk about anxiety. What is wrong with me?? I used to be completely fearless of death, just considered it part of life. I was more concerned about being the one left behind than to be the one leaving others on this earth. But babies change everything. Now I'm so worried about what will happen to my kids if I die. Will they think I just up and left them? Will they be fretted over as obsessively as I fret over them? Will they have clean and matching clothes to wear to school? I totally know that these are ridiculous things to worry about, but I'm seriously in an anxiety state that knows no reason. For example, I just went for a full body mole check 3 weeks ago, and I'm already convinced that I have three new moles that may be cancerous, and need to be checked out. Poor Nik. We haven't even gotten the $165 bill from my last apt (not to mention whatever pathology bills us for for the removed mole that thankfully came back normal). And then I start to have anxiety that the people at the dermatology office will think I'm a lunatic for coming in for THREE full body mole checks within 5 months. When all I want to tell them when they give me attitude for making yet another appointment is that I am SO afraid of having to explain to my kids someday that I won't be here forever that I'm willing to do whatever it takes (even driving myself insane with anxiety) to prevent it.
I think what all my anxiety boils down to is my lack of control. How is a mother, whose job it is to keep other human beings alive and happy while teaching them how to be loving and caring and productive members of society, supposed to be okay with not being in control over keeping her kids from having genetic disorders? And how is she supposed to be okay with knowing that any day could be her last, and she's worked so hard just to leave behind kids that will feel like she left them, but who will probably not even remember her in two or three years time anyway?
Sorry about all the drama and crazy thoughts. I warned you tho. It's no wonder Isabella's new line is "Calm down, Mom." I'm a walking ball of stress. Hopefully Thursday's genetics appointment will leave me feeling at least a little relived, if only because the anticipation of waiting for another scary appointment is over. I really need to get out of this funk because it is making me feel like a miserable person. I feel like I'm not enjoying my kids or my husband enough lately, and I'm not living up to who I want to be. I spend too much time freaking and not enough time appreciating. I just want to know with certainty that I'm REALLY doing everything I can do for my family's health. I don't want something to happen that I could have prevented.
Now if only hubby would get home from work with the bag of Caramel Ghiradelli Chocolates he promised me. (I'm all about self medicating my stress ;) )
It's been so long since I've written, mostly because of a bad case of writer's block mixed with kids who really can't stay self satisfied for more than two minutes at a time. But also because I'm totally weighed down with anxiety lately, and I was afraid that writing about all of the things I'm worried about will only make me dwell on them more... but I've gotten to the point where I have to do something about all my crazy emotions, and writing has never let me down in the past, so here I go.
Bells has an apt. with the geneticist on Thursday. I'm so nervous. I go back and forth between wanting to know and wanting to live in a land that isn't quite denial (just not possible anymore) but is more like not wanting to commit to a label that might be more debilitating later on than we even can imagine. I can't believe that back when I thought she might have mosaic downs syndrome I was completely torn apart for weeks. Now, a diagnosis that "benign" would have me thanking God for sparing us of all the other "could be's" that are so much worse. Especially metabolic disorders.
But even if it isn't a metabolic disorder, I'm still terrified. I have always dreamed that a family with four kids is the only way to feel complete. After having Noah (which happened to be around the time I accepted that there was something different with Isabella) I even accepted that maybe, MAYBE I could live with just having three. But two? No way.... I'm totally not done toting a newborn in my sling, listening to the sighs and cat like meow cries. Totally not done struggling through either nursing successfully or weaning successfully. Totally not done feeling the pride of having people look at my brand new baby in public. Totally not done watching my husband nervously fret about supporting that bobbing fragile head while holding a newborn for the first month. Totally not done teaching my kids about how to be good big siblings. Totally. Not. Done.
So what if? What if this doctor, while searching for a diagnosis, agrees with the SIX other doctors that believe that she has a genetic disorder? What if, whether she ever can find what is wrong or not, she tells me that the chances of Nik and I passing this on to another child are just to high to ignore? What if whatever Isabella has can show up worse in another baby? Because to be honest, if we were guaranteed six more babies JUST like Bells, I'd think I won the lottery. But what if I had a baby that needed more? That struggled more? That I worried about more? That just isn't healthy enough to survive?
I know that I won't leave the appointment on Thursday with any definite answers. Best case scenario, this new doc can give us a direction in which to start testing with more accuracy, and can give me a very vague and general idea of where we stand in passing possible genetic faults on to future babies. Which of course will only lead me into a whole all too familiar world of anxiety from waiting for answers so I can decide what to do. When all I really want is for someone else to make all the decisions for me right now because I'm thisclose to giving up this week.
In other news, I'm seriously starting to think I have hypochondria. All this worrying about what Isabella's symptoms and syndromes mean has me convinced I'm dying of something that I don't know about yet. Talk about anxiety. What is wrong with me?? I used to be completely fearless of death, just considered it part of life. I was more concerned about being the one left behind than to be the one leaving others on this earth. But babies change everything. Now I'm so worried about what will happen to my kids if I die. Will they think I just up and left them? Will they be fretted over as obsessively as I fret over them? Will they have clean and matching clothes to wear to school? I totally know that these are ridiculous things to worry about, but I'm seriously in an anxiety state that knows no reason. For example, I just went for a full body mole check 3 weeks ago, and I'm already convinced that I have three new moles that may be cancerous, and need to be checked out. Poor Nik. We haven't even gotten the $165 bill from my last apt (not to mention whatever pathology bills us for for the removed mole that thankfully came back normal). And then I start to have anxiety that the people at the dermatology office will think I'm a lunatic for coming in for THREE full body mole checks within 5 months. When all I want to tell them when they give me attitude for making yet another appointment is that I am SO afraid of having to explain to my kids someday that I won't be here forever that I'm willing to do whatever it takes (even driving myself insane with anxiety) to prevent it.
I think what all my anxiety boils down to is my lack of control. How is a mother, whose job it is to keep other human beings alive and happy while teaching them how to be loving and caring and productive members of society, supposed to be okay with not being in control over keeping her kids from having genetic disorders? And how is she supposed to be okay with knowing that any day could be her last, and she's worked so hard just to leave behind kids that will feel like she left them, but who will probably not even remember her in two or three years time anyway?
Sorry about all the drama and crazy thoughts. I warned you tho. It's no wonder Isabella's new line is "Calm down, Mom." I'm a walking ball of stress. Hopefully Thursday's genetics appointment will leave me feeling at least a little relived, if only because the anticipation of waiting for another scary appointment is over. I really need to get out of this funk because it is making me feel like a miserable person. I feel like I'm not enjoying my kids or my husband enough lately, and I'm not living up to who I want to be. I spend too much time freaking and not enough time appreciating. I just want to know with certainty that I'm REALLY doing everything I can do for my family's health. I don't want something to happen that I could have prevented.
Now if only hubby would get home from work with the bag of Caramel Ghiradelli Chocolates he promised me. (I'm all about self medicating my stress ;) )
Sunday, November 21, 2010
Crazy 8
I had an interesting experience at the mall yesterday. Nik was walking around the mall's wide corridor with Noah, (who refused to sit in his stroller and instead demanded to walk like some big wig teenager pushing people out of his way and paying no attention to whether anyone followed him or not), while Isabella and I wandered around the Crazy 8 store in search of jeans for Noah on the clearance rack. Isabella was sitting in the stroller touching racks of clothes as she passed through them and intermittently asking for a cookie, a mall ritual that we started a while back. While I scanned the circle rack, I noticed another mom doing the same nearby with a daughter about Bella's age in tow. My attention immediately went to the little girl first, and my heart did the little skip-a-beat-to-my-stomach-and-turn-to-a-knot as it usually does when I watch another child Isabella's age do things that I so want my own girl to do. She galloped (literally galloped) around the rack, talking a mile a minute in sentences that seemed far advanced for a child that age, but who am I to say when I don't even know how a normal 4 year old really talks. Isabella noticed her too, and her eyes lit up and she started saying "hi friend, hi friend!!" repeatedly, waiting eagerly for a response out of the other girl, who looked at Bells briefly and then looked away, only to look at her again with a dirty look. My attention then went to the mom, who continued her search on the circular rack, the same sweater dress in her hand that I myself held for my daughter. I couldn't help but think how odd it was that two girls would be wearing the same dress, in most likely the same size...looking so similar but acting so different. I started to feel a little sad, so I looked away, back to the girls, who were now an arms length away from each other. I watched as Isabella reached out and grabbed the other girls hand and smiled at her. The other girl looked down at the floor but didn't let go yet, just let Isabella hold her hand for a few seconds until she broke free and ran closer to her mommy. I started to walk away when I overheard the other girl say to her mommy in a nasty tattle-tell way "MOMMY! That little girl just told me that if I didn't give her my bracelet she was going to break it!" I looked back and saw the girl pointing straight at Isabella, who was now drinking her juice and oblivious of what was going on. The mom replied with a distracted "what bracelet hunny?" and the girl said "THIS bracelet (holding up her arm to her mom) The one I got for my birthday!" The mom looked down at her and then over to us and said to the girl "well that was a mean thing for her to say to you. Don't give it to her."
To say I was shocked was an understatement. I was crushed. I could NOT believe that a child that young could be so manipulative and vindictive, and I had no idea that they even held the ability to lie like that. And for what? What reason would a 4 year old have to lie? She was in no danger of getting in trouble. And honestly, where did that story even come from? It scared me to think that this child's thought process could even go in that direction, that just because she was a little uncomfortable with another child's touch or show of affection that she felt threatened enough or insecure enough to tell a horrible lie.
For a minute I just stood there, thinking about going right over to that little girl and calling her a liar, a brat, a horrible little shit. And then I thought about going over to the mom and defending Isabella, telling the mom that she will NEVER meet a sweeter little girl, will never meet another child who only wanted to love everyone, who only cried when other kids wouldn't hug her when she wanted one, or who, if asked, would give another child whatever they wanted. I wanted to tell her that if it were MY child that were wearing the bracelet in question, and the other little girl wanted it, she would have given it to her in total excitement, THAT is the kind of child my daughter is. And then I wanted to say to her that even IF my daughter would say something like the lie that her daughter told, she could never say it in a way that she nor her daughter would understand. She has speech delays lady, I would say. Prove that she said that, go ahead. Ask her to repeat it. Chances are you wouldn't understand a word of what comes out of her mouth. I would say you might consider yourself lucky after meeting my kid that you have a daughter who can gallop and carry on a conversation with you and can speak so clearly I can hear her lie across the store, but I pity you. I'm the lucky one because my daughter just wants to make people happy, even if she can't skip or tell a lie clearly.
But I didn't say that. Instead I turned around and walked away, listening to my daughter singing "happy birthday" in the front of the stroller. It dawned on me that she must have heard the girl call it her birthday bracelet and here she was, singing "happy birthday" to this girl who would have gotten total pleasure out of seeing her get in trouble. Singing happy birthday in the most beautiful, high pitched yet still soft voice, the words, while still a little jumbled and not pronounced just right, were becoming more and more clear with each verse.
I felt so proud right then. So proud that I have such an amazing little soul in my life who knows more about love and acceptance than I can ever hope to know. As we walked out of the store she turned around to look at me and said "NOW i can have a cookie mommy?" and I said, "yup love, now it's time for you to get a cookie"...
....so i bought her three ;)
To say I was shocked was an understatement. I was crushed. I could NOT believe that a child that young could be so manipulative and vindictive, and I had no idea that they even held the ability to lie like that. And for what? What reason would a 4 year old have to lie? She was in no danger of getting in trouble. And honestly, where did that story even come from? It scared me to think that this child's thought process could even go in that direction, that just because she was a little uncomfortable with another child's touch or show of affection that she felt threatened enough or insecure enough to tell a horrible lie.
For a minute I just stood there, thinking about going right over to that little girl and calling her a liar, a brat, a horrible little shit. And then I thought about going over to the mom and defending Isabella, telling the mom that she will NEVER meet a sweeter little girl, will never meet another child who only wanted to love everyone, who only cried when other kids wouldn't hug her when she wanted one, or who, if asked, would give another child whatever they wanted. I wanted to tell her that if it were MY child that were wearing the bracelet in question, and the other little girl wanted it, she would have given it to her in total excitement, THAT is the kind of child my daughter is. And then I wanted to say to her that even IF my daughter would say something like the lie that her daughter told, she could never say it in a way that she nor her daughter would understand. She has speech delays lady, I would say. Prove that she said that, go ahead. Ask her to repeat it. Chances are you wouldn't understand a word of what comes out of her mouth. I would say you might consider yourself lucky after meeting my kid that you have a daughter who can gallop and carry on a conversation with you and can speak so clearly I can hear her lie across the store, but I pity you. I'm the lucky one because my daughter just wants to make people happy, even if she can't skip or tell a lie clearly.
But I didn't say that. Instead I turned around and walked away, listening to my daughter singing "happy birthday" in the front of the stroller. It dawned on me that she must have heard the girl call it her birthday bracelet and here she was, singing "happy birthday" to this girl who would have gotten total pleasure out of seeing her get in trouble. Singing happy birthday in the most beautiful, high pitched yet still soft voice, the words, while still a little jumbled and not pronounced just right, were becoming more and more clear with each verse.
I felt so proud right then. So proud that I have such an amazing little soul in my life who knows more about love and acceptance than I can ever hope to know. As we walked out of the store she turned around to look at me and said "NOW i can have a cookie mommy?" and I said, "yup love, now it's time for you to get a cookie"...
....so i bought her three ;)
Thursday, October 14, 2010
Weight of the World
I woke up yesterday morning with the weight of the world on my shoulders. And I mean that in the most literal and positive way. Both of my little loves were in that dreamy half asleep state where they cuddle deeper under the covers and crawl closer to me so that they can rest their heads on my shoulders for just a few minutes longer before our day begins. And as I soaked up the last moments of their warmth next to me I thought this is IT. This is what my life is for. They are my world and they give my world meaning and purpose and weight. And it was heavenly.
But our heavenly moment didn't last long. It would be next to unheard of for these wild monkeys to stay in bed past 7am, so we were downstairs getting ready for our day just moments later. And it was a day I had been dreading for a long time... we had an appointment with one of Isabella's neurologists at Akron Children's Hospital. With the same neurologist who told us about a year ago that due to high lactic acid levels in her blood, Isabella was most likely suffering from a mitochondrial metabolic disorder and we needed to see a specialist...stat. Well of course it would take over a month for our insurance to even cover seeing said specialist and a month longer for said specialist to even fit us into his booked-for-6-months schedule, and during those terrible, painful, incredibly long two months I did research. And it was terrifying. Everything I read was bad news, and I was a wreck. I was still in emotional trauma from Isabella's seizures and week long hospital stay a few weeks prior, and added to that this possible life shortening diagnosis, I didn't go an hour without a break down.
But ohhh the specialist. He was wonderful. He calmed my fears and told me that although we repeated the blood draws 3 times, all resulting in elevated lactic acid, the particular test is not always reliable on children because their struggling alone during the blood draw could falsely elevate the results. And after meeting Isabella he thought it was more likely she had some kind of genetic cause for her symptoms than a metabolic. He ordered some more tests, including more blood work for other possible markers for a metabolic disease, and did another whole right up for more genetic testing. A few weeks later her results all came back close enough to normal that we were still without a diagnosis, but we could neither rule out or in a metabolic disorder. He seemed very confident that she did not have one, however he said he could not rule out her showing signs of one later in life, as some people show no symptoms of these diseases for a whole lifetime until one day it strikes out of the blue. He reminded me that every day Isabella was progressing and not to worry. He referred us to an opthamologist who specializes in children with genetic disorders in hopes that he could pin point in what area of her DNA to search for a possible defect. He also told us to see a geneticist who could measure different areas of her body and put it in a database which would show others who have similar make ups in hopes we could find a diagnosis.
Soo off to more specialists. Unsurprisingly, our insurance shut us down immediately when it came to covering the genetics specialist. They would pick up the opthamologist, so we made the appointment. He did all kinds of tests and gave her eyes a clean bill of health...her vision was fine and he could not see anything to pinpoint any genetic malformations. (hoorayy!)
In the meantime, I had meetings with a nurse for BCMH (bureau for children with medical handicaps) who had been working with us for months to get us approved for funding. We weren't optimistic because BCMH only approves children with a diagnosis, and that diagnosis MUST fall under a list of things they cover. Somehow our miracle specialist of neurology in Cleveland wrote her file in such a way to get her covered (he diagnosed her with "unspecified seizure disorder with neurological components") and we got approved! But by the time this news made it to me, I was back to feeling happy and confident in Isabella's progress and I didn't want another doctor to bring me bad news. I chose to live in a bubble for a few months longer, and I didn't make the appointment with the geneticist.
Which brings us to Isabella's follow up appointment with her first neurologist in Akron. I was dreading it. I have not ONCE walked out of that office feeling good or confident or reassured. I knew I had only good and positive things to tell the doctor regarding Isabella's progress in the past few months, but I was scared of what she might say about how Isabella was still behind or weak in other areas.
So I rushed around yesterday packing lunches and toys and in-case-of-extreme-meltdown tootsie pops and we headed to Akron. I knew from experience to not go to that office alone, so I called my step-dad to meet me there to stay with Noah in the waiting room while Bells and I saw the doctor. One good thing about that place- they have an excellent waiting area complete with a slide, blocks, toy cars and a huge fish tank. The kids were in heaven, which helped ease my stomach nerves while I waited for her turn.
And then her name was called. We walked to the nurse's station so they could weigh her (35.5 pounds!!) and take her blood pressure (SHE LET THEM DO IT without a fight, and even giggled and said "that tickles!" What a change from a few short months ago- I was so proud!). When the doctor came in I informed her of all the progress she has made in the past year since her seizures including her HUGE language explosion (she went from about 40 words to an unlimited and ever increasing vocabulary including full sentences and question asking!). I told her about how she knows her ABCs and can count to 29. I told her about how she knows her colors and can count to 10 in Spanish. I told her about how she can jump and how she can memorize songs and books and knows her phone number. I bragged and bragged and told her probably too many useless-to-her facts. When I finally stopped the doctor turned to Isabella and started asking her questions about school and her colors and what she would be for Halloween. She answered every question, pointed to every object on a picture board the doc showed her, and showed her how she can jump and run (albeit awkwardly). I watched Isabella do this with a fist around my heart. The past nearly 4 years of her life flashed through my mind and I couldn't believe how far she has come and how much she has endured to get to this place. Every parent knows what pride is, but how I feel for Isabella goes so beyond that.
When she was done with showing off her skills, I asked the doctor how she felt about Bella's progress. I asked her how far behind she really thinks she is, and if she is closing the gap now that she is talking so much and telling us how much she really knows. The doctor said that yeah, she agrees that her understanding of language is 100%, and that she has an appropriate amount of words and sentence structure for a child her age, but that her fluency and annunciation were lower than normal. She thought that much of this is due to her hypotonia, but that we should ask Isabella's ENT to check her throat with a scope to make sure there were no anomalies causing her speech problems. She also thought that we should look into going to a private speech therapist again in addition to the therapy she is getting in school.
Then she asked about the metabolic results. I told her everything that we had learned from the specialist and she seemed doubtful that her high lactic acid was a result of faulty testing techniques. She decided that she wants to investigate this further with a special type of MRI called an MRS. This new test looks at the amount of lactate build up in the brain to determine if her lactic acid is elevated there. If this test shows that it is, it is quite indicative of a metabolic disorder. The test requires around 45 mins of sedation. She also agreed with the specialist that we need to see a geneticist.
So we scheduled the MRS for Nov. 23rd and I made a mental note to call insurance about the geneticist again, and I walked to my car feeling like my safety bubble of contentment had popped and I was left with a mess of nerves and fear and 'what ifs' and 'whys' that I was a few months ago. I drove home with two sleepy kids and thought about how I have a choice. I could let this fear paralyze me or I could work through it and continue to enjoy my kids while I fight for my daughter's health and future. I chose the latter...because although it is a constant struggle with setbacks and unknowns, I need to know that I am doing everything for Isabella that I can, and if we find a diagnosis that has a course of treatment for her that we are not currently following, maybe it can help her to progress even further. My happiness rises and sets on my children and will do anything to make them happy and healthy and safe and thriving in return. I have been through the fear of being a mother of a special needs child for almost FOUR years now, and with it comes the most unbelievable feelings of pride, success, happiness and excitement of what is to come. I can and will do anything for these kids. I CAN DO THIS.
After the kids were in bed Nik and I talked for a long time. We realized that even if we find a diagnosis, Isabella will still be the same amazing, happy, sweet and gentle child that she has always been. Her life might be different than the average child, or it might not be. But as her parents, we will search for and provide her with every opportunity available to enrich her life. It is amazing to me that although it is our job as parents to teach her about kindness and empathy and love, she has already taught me more about that in these past four years than I had learned in the twenty something years before she came into this world. This child has a soul that seems to understand the deeper meaning of life and why we are here and how to live and love and make an impact. And she teaches me about it every day.
Before we got into bed I scooped Isabella from hers and Nik grabbed a sleeping Noah from his crib and we all cuddled up together in our bed. I just needed to be close to them all. I put one arm under Bells' head and the other under Noah's and I fell asleep....with the weight of the world on my shoulders.
But our heavenly moment didn't last long. It would be next to unheard of for these wild monkeys to stay in bed past 7am, so we were downstairs getting ready for our day just moments later. And it was a day I had been dreading for a long time... we had an appointment with one of Isabella's neurologists at Akron Children's Hospital. With the same neurologist who told us about a year ago that due to high lactic acid levels in her blood, Isabella was most likely suffering from a mitochondrial metabolic disorder and we needed to see a specialist...stat. Well of course it would take over a month for our insurance to even cover seeing said specialist and a month longer for said specialist to even fit us into his booked-for-6-months schedule, and during those terrible, painful, incredibly long two months I did research. And it was terrifying. Everything I read was bad news, and I was a wreck. I was still in emotional trauma from Isabella's seizures and week long hospital stay a few weeks prior, and added to that this possible life shortening diagnosis, I didn't go an hour without a break down.
But ohhh the specialist. He was wonderful. He calmed my fears and told me that although we repeated the blood draws 3 times, all resulting in elevated lactic acid, the particular test is not always reliable on children because their struggling alone during the blood draw could falsely elevate the results. And after meeting Isabella he thought it was more likely she had some kind of genetic cause for her symptoms than a metabolic. He ordered some more tests, including more blood work for other possible markers for a metabolic disease, and did another whole right up for more genetic testing. A few weeks later her results all came back close enough to normal that we were still without a diagnosis, but we could neither rule out or in a metabolic disorder. He seemed very confident that she did not have one, however he said he could not rule out her showing signs of one later in life, as some people show no symptoms of these diseases for a whole lifetime until one day it strikes out of the blue. He reminded me that every day Isabella was progressing and not to worry. He referred us to an opthamologist who specializes in children with genetic disorders in hopes that he could pin point in what area of her DNA to search for a possible defect. He also told us to see a geneticist who could measure different areas of her body and put it in a database which would show others who have similar make ups in hopes we could find a diagnosis.
Soo off to more specialists. Unsurprisingly, our insurance shut us down immediately when it came to covering the genetics specialist. They would pick up the opthamologist, so we made the appointment. He did all kinds of tests and gave her eyes a clean bill of health...her vision was fine and he could not see anything to pinpoint any genetic malformations. (hoorayy!)
In the meantime, I had meetings with a nurse for BCMH (bureau for children with medical handicaps) who had been working with us for months to get us approved for funding. We weren't optimistic because BCMH only approves children with a diagnosis, and that diagnosis MUST fall under a list of things they cover. Somehow our miracle specialist of neurology in Cleveland wrote her file in such a way to get her covered (he diagnosed her with "unspecified seizure disorder with neurological components") and we got approved! But by the time this news made it to me, I was back to feeling happy and confident in Isabella's progress and I didn't want another doctor to bring me bad news. I chose to live in a bubble for a few months longer, and I didn't make the appointment with the geneticist.
Which brings us to Isabella's follow up appointment with her first neurologist in Akron. I was dreading it. I have not ONCE walked out of that office feeling good or confident or reassured. I knew I had only good and positive things to tell the doctor regarding Isabella's progress in the past few months, but I was scared of what she might say about how Isabella was still behind or weak in other areas.
So I rushed around yesterday packing lunches and toys and in-case-of-extreme-meltdown tootsie pops and we headed to Akron. I knew from experience to not go to that office alone, so I called my step-dad to meet me there to stay with Noah in the waiting room while Bells and I saw the doctor. One good thing about that place- they have an excellent waiting area complete with a slide, blocks, toy cars and a huge fish tank. The kids were in heaven, which helped ease my stomach nerves while I waited for her turn.
And then her name was called. We walked to the nurse's station so they could weigh her (35.5 pounds!!) and take her blood pressure (SHE LET THEM DO IT without a fight, and even giggled and said "that tickles!" What a change from a few short months ago- I was so proud!). When the doctor came in I informed her of all the progress she has made in the past year since her seizures including her HUGE language explosion (she went from about 40 words to an unlimited and ever increasing vocabulary including full sentences and question asking!). I told her about how she knows her ABCs and can count to 29. I told her about how she knows her colors and can count to 10 in Spanish. I told her about how she can jump and how she can memorize songs and books and knows her phone number. I bragged and bragged and told her probably too many useless-to-her facts. When I finally stopped the doctor turned to Isabella and started asking her questions about school and her colors and what she would be for Halloween. She answered every question, pointed to every object on a picture board the doc showed her, and showed her how she can jump and run (albeit awkwardly). I watched Isabella do this with a fist around my heart. The past nearly 4 years of her life flashed through my mind and I couldn't believe how far she has come and how much she has endured to get to this place. Every parent knows what pride is, but how I feel for Isabella goes so beyond that.
When she was done with showing off her skills, I asked the doctor how she felt about Bella's progress. I asked her how far behind she really thinks she is, and if she is closing the gap now that she is talking so much and telling us how much she really knows. The doctor said that yeah, she agrees that her understanding of language is 100%, and that she has an appropriate amount of words and sentence structure for a child her age, but that her fluency and annunciation were lower than normal. She thought that much of this is due to her hypotonia, but that we should ask Isabella's ENT to check her throat with a scope to make sure there were no anomalies causing her speech problems. She also thought that we should look into going to a private speech therapist again in addition to the therapy she is getting in school.
Then she asked about the metabolic results. I told her everything that we had learned from the specialist and she seemed doubtful that her high lactic acid was a result of faulty testing techniques. She decided that she wants to investigate this further with a special type of MRI called an MRS. This new test looks at the amount of lactate build up in the brain to determine if her lactic acid is elevated there. If this test shows that it is, it is quite indicative of a metabolic disorder. The test requires around 45 mins of sedation. She also agreed with the specialist that we need to see a geneticist.
So we scheduled the MRS for Nov. 23rd and I made a mental note to call insurance about the geneticist again, and I walked to my car feeling like my safety bubble of contentment had popped and I was left with a mess of nerves and fear and 'what ifs' and 'whys' that I was a few months ago. I drove home with two sleepy kids and thought about how I have a choice. I could let this fear paralyze me or I could work through it and continue to enjoy my kids while I fight for my daughter's health and future. I chose the latter...because although it is a constant struggle with setbacks and unknowns, I need to know that I am doing everything for Isabella that I can, and if we find a diagnosis that has a course of treatment for her that we are not currently following, maybe it can help her to progress even further. My happiness rises and sets on my children and will do anything to make them happy and healthy and safe and thriving in return. I have been through the fear of being a mother of a special needs child for almost FOUR years now, and with it comes the most unbelievable feelings of pride, success, happiness and excitement of what is to come. I can and will do anything for these kids. I CAN DO THIS.
After the kids were in bed Nik and I talked for a long time. We realized that even if we find a diagnosis, Isabella will still be the same amazing, happy, sweet and gentle child that she has always been. Her life might be different than the average child, or it might not be. But as her parents, we will search for and provide her with every opportunity available to enrich her life. It is amazing to me that although it is our job as parents to teach her about kindness and empathy and love, she has already taught me more about that in these past four years than I had learned in the twenty something years before she came into this world. This child has a soul that seems to understand the deeper meaning of life and why we are here and how to live and love and make an impact. And she teaches me about it every day.
Before we got into bed I scooped Isabella from hers and Nik grabbed a sleeping Noah from his crib and we all cuddled up together in our bed. I just needed to be close to them all. I put one arm under Bells' head and the other under Noah's and I fell asleep....with the weight of the world on my shoulders.
Monday, July 19, 2010
Jumping bean
It seems like forever since I last updated, and because we have been uber busy with the day to day routine, I just haven't felt like there has been a minute of my time that I would rather blog than just lay on the couch for a short break. Soo now my guilt about not writing on here has finally overtaken my laziness during Noah's nap hour and here I am.
The last couple of weeks have kind of been up and down for me emotionally. Just when I think I have gotten a handle of Isabella's lack of a diagnosis my fear bubbles over again and punches me in the gut. I always go back to the lingering possibility that maybe she has something more serious than we think that will only later present itself as a progressive disease. And when that recurring nightmare starts back up again I go into self-sabatage mode and start my ever lasting internet search for possibilites of an answer. It almost always starts at wrongdiagnosis.com where I do a search for all of her multiple symptoms (hypotonia, skin mottling, high lactic acid, developmental delay.....) and I always come up with at least one thing that could possibly be IT... and then I mourn and cry and let myself be eaten up with worry over the WHAT IF's and the WHAT IF NOTs and I can't eat or sleep or even be nice to my poor hubby. My poor hubby that takes all the brunt of my maternal fears and manages to talk me back to reality even after I blow up on him multiple times just because HE isn't in freak out mode too. But all it really takes is for him to tell me that today she is happy and healthy and perfect and if I don't take advantage of that right now, I might not have the opportunity to do it later...and eventually I get my emotions back on track.
So that's what I've been doing. Venturing back and forth from fear-of-not-knowing land and it has not been fun. But Isabella keeps progressing dispite my fear, and that helps bring me back to sanity. Especially this week's new milestone...SHE IS JUMPING!!! Which honestly has been something that I thought that she might never do. Ever. I even told Nik just last month that I have finally accepted the fact that she might never jump because I realized that who cares, jumping won't make her any better or worse at being the sweetest person this world will ever meet. So imagine my shock when I picked her up from school last wednesday and she got all excited to see me and started jumping up and down (not very elegantly but actually getting her stubby little feet a centimeter off the ground none the less.) I actually started tearing up and clapping and jumping up and down with her. Her summer teachers must have thought I was crazy but I don't think they knew that this has been on her physical therapy goal list for over a year and a half now. And she is so proud of herself that she takes to jumping all day long now. While watching tv she jumps. While playing with her doll house she takes a minute to start jumping. While waiting for me to strap Noah in his carseat before I put her into hers she practices. It might be one of my favorite things in the world to watch because it takes her 2 or three attempts before she gets one solid off the ground jump in there, but she ALWAYS keeps trying until she gets a good one in. And then she claps for herself and beams wildly and does it again. Ohhhh the joy of success.
I think she knows how far she has come because lately she has been much less hesitant to try new things... things that would cause her to kick and scream in fear before are now obsacles for her to overcome. And I think she enjoys having pride in what she is doing because she will do something new that I can tell she isn't enjoying just so she can smile at me proudly when she is done. And sometimes she doesn't even try to do it again, just knowing that she CAN do it when she wants to is enough for her. And her pride in herself and my pride for her go toe-to-toe at the finish line of the milestone race. And I don't even care who crosses first because the best part is sharing in these experiences with her.
I don't even need to remind myself lately that overall I wouldn't change a thing about her or our lives since she has been born. Isabella's journey has taken me to a whole new level of strength that I never even dreamed I could posess. And traveling on this journey with her has led me to so many new friendships that I couldn't imagine living without now... this new support system that I have gained has been there rooting us on when we feel like we are flailing helplessly and cheering for us when we cross that milestone finish line with pride. I have gained a feeling of being connected to people in a way I have never felt before all because we share the experience of raising a child who has changed our entire view on life and what it really means to be happy. So to all of my new but lifelong friends: you are my backbone holding me up and making me stand tall when I feel like crumbling, and you make this life of ours more meaningful. Excuse the sap, but I really appreciate you all. Part of the best part of parenting for me has been having others share my joy in watching my children grow and because of you I get to have this AND partake in enjoying watching YOUR children grow. A total win-win deal for me :)
I've tried to take some pictures of her jumping, but I've yet to catch the perfect mid-air shot, so I'll attach the best that I have so far. I can't wait to see what accomplishment she will jump to next :)
I'll try to post again sometime this week with more pictures and updates of what we've been up to lately...I need to get myself back on track with Blogger, I forgot how theraputic it is!
The last couple of weeks have kind of been up and down for me emotionally. Just when I think I have gotten a handle of Isabella's lack of a diagnosis my fear bubbles over again and punches me in the gut. I always go back to the lingering possibility that maybe she has something more serious than we think that will only later present itself as a progressive disease. And when that recurring nightmare starts back up again I go into self-sabatage mode and start my ever lasting internet search for possibilites of an answer. It almost always starts at wrongdiagnosis.com where I do a search for all of her multiple symptoms (hypotonia, skin mottling, high lactic acid, developmental delay.....) and I always come up with at least one thing that could possibly be IT... and then I mourn and cry and let myself be eaten up with worry over the WHAT IF's and the WHAT IF NOTs and I can't eat or sleep or even be nice to my poor hubby. My poor hubby that takes all the brunt of my maternal fears and manages to talk me back to reality even after I blow up on him multiple times just because HE isn't in freak out mode too. But all it really takes is for him to tell me that today she is happy and healthy and perfect and if I don't take advantage of that right now, I might not have the opportunity to do it later...and eventually I get my emotions back on track.
So that's what I've been doing. Venturing back and forth from fear-of-not-knowing land and it has not been fun. But Isabella keeps progressing dispite my fear, and that helps bring me back to sanity. Especially this week's new milestone...SHE IS JUMPING!!! Which honestly has been something that I thought that she might never do. Ever. I even told Nik just last month that I have finally accepted the fact that she might never jump because I realized that who cares, jumping won't make her any better or worse at being the sweetest person this world will ever meet. So imagine my shock when I picked her up from school last wednesday and she got all excited to see me and started jumping up and down (not very elegantly but actually getting her stubby little feet a centimeter off the ground none the less.) I actually started tearing up and clapping and jumping up and down with her. Her summer teachers must have thought I was crazy but I don't think they knew that this has been on her physical therapy goal list for over a year and a half now. And she is so proud of herself that she takes to jumping all day long now. While watching tv she jumps. While playing with her doll house she takes a minute to start jumping. While waiting for me to strap Noah in his carseat before I put her into hers she practices. It might be one of my favorite things in the world to watch because it takes her 2 or three attempts before she gets one solid off the ground jump in there, but she ALWAYS keeps trying until she gets a good one in. And then she claps for herself and beams wildly and does it again. Ohhhh the joy of success.
I think she knows how far she has come because lately she has been much less hesitant to try new things... things that would cause her to kick and scream in fear before are now obsacles for her to overcome. And I think she enjoys having pride in what she is doing because she will do something new that I can tell she isn't enjoying just so she can smile at me proudly when she is done. And sometimes she doesn't even try to do it again, just knowing that she CAN do it when she wants to is enough for her. And her pride in herself and my pride for her go toe-to-toe at the finish line of the milestone race. And I don't even care who crosses first because the best part is sharing in these experiences with her.
I don't even need to remind myself lately that overall I wouldn't change a thing about her or our lives since she has been born. Isabella's journey has taken me to a whole new level of strength that I never even dreamed I could posess. And traveling on this journey with her has led me to so many new friendships that I couldn't imagine living without now... this new support system that I have gained has been there rooting us on when we feel like we are flailing helplessly and cheering for us when we cross that milestone finish line with pride. I have gained a feeling of being connected to people in a way I have never felt before all because we share the experience of raising a child who has changed our entire view on life and what it really means to be happy. So to all of my new but lifelong friends: you are my backbone holding me up and making me stand tall when I feel like crumbling, and you make this life of ours more meaningful. Excuse the sap, but I really appreciate you all. Part of the best part of parenting for me has been having others share my joy in watching my children grow and because of you I get to have this AND partake in enjoying watching YOUR children grow. A total win-win deal for me :)
I've tried to take some pictures of her jumping, but I've yet to catch the perfect mid-air shot, so I'll attach the best that I have so far. I can't wait to see what accomplishment she will jump to next :)
I'll try to post again sometime this week with more pictures and updates of what we've been up to lately...I need to get myself back on track with Blogger, I forgot how theraputic it is!
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