Isabella Grace-ious

Isabella Grace
The story of the girl who changes my life

Friday, March 11, 2011


:::::::::::::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?


  1. Totally and utterly perfect, my friend. Perfect indeed.

  2. There is so, so much I want to say...when I sent you that message earlier tonight, I hadn't read your blog yet!

    1. Your post and pics brought tears to my eyes. Your daughter is perfect and adorable...and Isabella is so lucky to have you as her mom.

    2. Do you know that we were supposed to have our appt in Cleve on Thurs too? We had to change it though cuz (surprise!) we were sick. How funny if we would have both been up there on the same day.

    3. A diagnosis-----(maybe)!!!! I can imagine how you are probably feeling 1,000 different emotions right now. It's not progressive!!!! Yay!!!!!

    4. There's about 500 more things I want to say-but i'll spare you. ;) Let's chat/email soon. :) (I'm so checking out my Bella's hand creases tom am).

  3. First of all, Hi! You have a beautiful family. So here's a funny little story for you...

    I came to your blog today (I saw you linked to me) and I thought "Oh yeah I read this blog the other day." Then I realized NO, this is a different blog, now way! So what is strange is that I read the blog of another mom who has a daughter also named Isabelle (OK so she's Isabella and yours is Isabella, but still) who also looks like she has Kabuki syndrome. Anyway, I just thought I should link you two up...I already left a comment on her blog as well. Maybe it will help knowing another family out there dealing with similar stuff.... although their daughter is younger. Here is their blog:

    So good luck! I hope that's helpful information.

  4. HI! I was actually sent to your blog by Baby Lamp's mom. I actually have an Isabelle too, who has Kabuki Syndrome. Our Izzy turned 1 in Jan and was diagnosed a week before her first birthday. We havnt done the genetic test - our insurance wont cover it, but our geneticist was able to diagnose it with (according to him) 100% certanty. He's had about 10 Kabuki patients in the past. For us the best part about having a diagnosis was finally we were able to put a name on all of this, which was the deciding factor in getting her into some state programs that help cover the costs off all these doctor visits, as well as have other benefits. Anyway, if you ever want to email or talk to anyone, feel free to email me at Good luck with everything.

  5. What a beautifully written story, I can sympathise with so many of the things you have said. My daughter has Kabuki, she will be 3 in September. We were like you, we striggled with accepting the Kabuki diagnosis as Bethany didn't exhibit any of the more serious Kabuki symptoms. She doesn't have heart or organ abnormalities and she doesn't have any skeletal defects. She also has very mild dysmorphic features, so it was easy to convince ourselves the doctors were wrong. They weren't though and Bethany does definitely have Kabuki Syndrome, we recieved our blood test confirmation back in Febuary. As we're in the UK the testing is free. Bethany does have the dysmorphic features, hyoptonia, feeding difficulties, sensory problems, fetal finger pads and lots of other small but significant symptoms.

    I can totally sympathise with how you feel, it must be hard without a concrete diagnosis, like blood testing. Isabella is beautiful though (Noah too) and you must be very proud of them both :-)
    Cath xx

  6. Hi
    My name is Jenna and i came across your site. Isabella is an amazing, special and precious child. She is a brave, courageous, strong and determined fighter. She is a brave warrior, smilen champ and an inspirational hero. I was born with a rare life threatening disease, and 12 other medical conditions, and developmental delays. I am special because I am me, and Isabella is special because she is Isabella. We are both perfect in our own ways, and Isabella and myself are both lucky because we both have parents who love us for us, and care about us. I love it when people sign my guestbook.

  7. Beautiful daughter, you're in our thoughts and prayers!

  8. Hi, I found your site tonite as I was trying to figure out if my son has Kabuki and if he has the fetal...fingers. Not sure and I am not sure why my son's dr isn't sure either! He was dx'ed with autism back when he was about 22 months and now at 5.5 we need to get the blood work done to rule out this dx. Not sure if it changes anything, but it does help me understand (maybe) why my son doesn't exactly look like us *which is becoming more pronounced with age.
    Best of luck on your journey. Thanks for writing this down.