Mosie

I all too often share the joys and struggles of raising a mystery child with special needs. I can (and do) go on for days about how much she means to me, how much I wish I could do more for her, and how much her life has affected me. I throw my water balloon of emotions and anxieties surrounding Isabella to whoever is nearest to catch them, and I never really know when that balloon will burst on someone, or when they will catch it softly, and tenderly throw it back to me. Both for the good, and sometimes for the not so good, I am consumed by my role in parenting her.

But I also have a son.

From day one, Noah has seemed to know that she needed us more than an average older sibling would. He was the perfect infant, sleeping and eating well from the start, and almost never sick. He was born right in the middle of our coming to terms with the fact that her delays weren't the temporary, illness induced setbacks that we once thought. He used to look up at me with his wide, sweet eyes as I cried while I nursed him, trying to accept the fact that he would one day have to fill the roll as a "big brother" to a special needs older sister. He seemed to know the nights when I would finally relax enough to sleep soundly, and he chose them to practice his own sleeping through the night. As we fussed around checking her temperature hourly, checking her in her sleep nightly, and taking her to therapies and specialists weekly, he quietly mastered his milestones, with his accomplishments going by almost unnoticed by us.

He was there when the neurologist told me she definitely had "some kind of syndrome". He watched quietly while I fought to get her to hold her own spoon to feed herself. He imitated the sounds I would painstakingly pronounce, over and over again, trying to get her to repeat them back to me. He sat in his stroller while screamed as she had blood drawn for more genetic testing. He nursed while we sat at therapy after therapy, trying to get her to pedal a bike. To walk up a step. To hold a crayon. To suck from a straw. To learn sign language. To say her first words.

He was there, not yet 7 months old, when she had her 45 minute seizures. He didn't cry while I panicked, trying to figure out how to dial 911 on my phone. He didn't get scared when the ambulances arrived in the Toys R Us parking lot, sirens screaming, men in action,  barking directions at each other and at me. He didn't get upset when I left him, in the care of my mom and Harley, while I rode with her to the hospital, and he didn't invade my thoughts while she lay there unconscious and twitching, didn't make me realize that I had never left him for long, that he never took a bottle, that it was nearing time for him to eat. He knew she needed me, and he never made me worry about him.

He barely made a sound for the entire week he spent in the hospital with us while she lay there so sick. He didn't protest to sleeping in his car seat, to not having proper floor time to crawl and play. He slept when we would leave him with people, while she would got wheeled for CAT scans, spinal taps and tests for her kidneys. He was there when I needed to hold her, and he played in her hospital crib while I tried desperately to get her to drink something. And when I returned to get him out of her crib, he was there, smiling at me proudly, holding onto the slats of her hospital bed, standing for the first time.

He was there when I got the call that she might have a mitochondrial disorder. He was there while I researched endlessly, and he was there, watching me with those round blue eyes when I folded myself into a pile of despair. He was there, always so quiet, but always so willing to make me smile when I realized I hadn't done so for days.

He was there for so many of our most difficult times. And looking back, I am realizing that he NEVER fought for our attention when she needed us. He never made me choose which child I needed to focus on most, he always let her have us.

I am finally at the point where I am able to unpack the memories of those scary days, and as I am doing so I am realizing how much Noah was there, supporting and caring for Isabella just as much as we were.

So my point is, that although I write in this blog to muddle through my fears, joys, thoughts, and emotions which usually pertain to Isabella's journey with us, our little Mosie is here too. And he's my hero for choosing to come to this family knowing that he had work to do from the get go.

He's two now, so his days of being silent and golden while we are assisting to other household and sibling needs are slowly (quickly) fading away. He's still the sweet boy he was when he was a baby, but he is showing me that he needs us now, too. His temper tantrums rival the best of the worst, and he even decided to get in on that speech therapy action by requiring a little help in that area himself. But the fact that he waited to REALLY need us until his sister was out of the most dangerous part of the woods doesn't go unnoticed by us. He was sent here to go through this journey with us, and he's so good at helping us through it. And for all this and more, I love him to the moon and back.

And so does his sister.

Picture Frames and Barbie Dolls

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 :)

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.

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?

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 ;) )