Saturday, August 27, 2011

A Diagnosis

We received the call from our geneticist a few weeks ago (I am delayed in writing this due to a vacation in Pinetop, which I will write about later), and it's official: Sophie has Kabuki Syndrome.

Kabuki is a rare (1 in 32,000 births) genetic disorder which is named after its most common physical feature, long eyes (in Japanese Kabuki theater actors use makeup to make their eyes look long). It is associated with a myriad of medical issues and mild to severe intellectual disability. The physical features that Sophie has are the long eyes, long eye lashes, small head, pronounced finger pads, and arched eyebrows that fade on the outer half. She so far does not have the protruding ears and depressed nasal tip that is also common in KS. Because of that, our geneticist says people may not realize that she is "special" just by looking at her. The health issues she shares with KS are eating problems, weak muscle tone, strabismus (eye issues), reflux, kidney abnormalities, heart abnormalities, and rectal abnormalities. Interestingly, her biggest medical issue, biliary atresia, is not listed as an issue (the documentation doesn't list any liver issues).

It is actually uncommon for KS children to be diagnosed at such an early age. Most kids don't get diagnosed until they are 3-4 years old when the physical features are most visible, and sometimes even older. Given that Sophie doesn't have all of the physical features, it's almost a blessing to receive a diagnosis. Most people have to wait years and endure many tests before they figure out what "explains" the issues the child is having. Our geneticist (Dr. Aleck Kyrieckos if you're interested) recently contributed to a nation wide study on KS. He said that of the 65 or so kids in the study, his practice has 11 cases. So it seems like we saw the right doctor!

The field of genetics seems to be a big case of "the more you know, the less you know". It's really quite interesting. In Sophie's case, she was diagnosed because a test confirmed a mutation in the MLL2 gene. But only about 70% of KS cases have that mutation. Dr. Aleck explained to us that our genes create proteins, and in the case of a mutation, the wrong protein can be created. But how that one mutation can cause such differing and widespread issues in each case is not fully understood. Our doctor made a point to tell us this wasn't caused by anything we did, it just spontaneously happened (you can inherit it, but since neither Keith nor I have it, this was a new case). Which to me really just means that the medical community doesn't know what causes mutations. Dr. Aleck did say that the mutation likely happened in the egg or the sperm before conception, which surprised me. I assumed it was something that happened during pregnancy.

So what does this mean for Sophie? It's hard to tell. Dr. Aleck said that most of her medical issues should be known by now. I was expecting him to give me a list of more specialists to go to (to check for other common issues), but he said that wasn't necessary. For now he said we need to focus on her physical therapy and her feeding issues (which we are). As far as intellectual disabilities, we just have to wait and see. He did say that since she was delayed in babbling, that is a sign of some disability, but it's too early to say what we can expect.
The intellectual/behavioral issues is probably what scares me the most. Learning always came easy for both Keith and me, and Owen seems to be ahead of the curve, so this is new territory for us. And I was recently reading about some "epic meltdowns" that some KS kids have. Not looking forward to that.

And of course there was the part of me that was hoping that Sophie would end up being "normal" and just outgrow her medical issues (even though the doctors said shortly after birth that Sophie most likely had some kind of syndrome since she had so many abnormalities). To think that Sophie will likely not have the normal adult life of go to college, get a job, get married and have children is hard to swallow. But now there's also a part of me that is looking forward to (and currently enjoying) caring for someone so "special". A few years ago I overheard someone say that they kind of hoped they would get the swine flu, because they liked having a lot of varied "experiences" (even bad ones) to enhance their life. At the time I thought she was crazy, but now I can somewhat understand that. The past year has changed my perspective on many things, and as Sophie grows bigger, I grow along with her.

If you'd like more information about KS, there is a good website at http://kabukisyndrome.com/.

Sunday, August 7, 2011

Teething Bites!

...both literally and figuratively. Sophie bit me twice today. The second time my reaction may have scared her enough to not try it again, at least not anytime soon. It's another clue that she is teething. It's really quite frustrating, cause she has taken a step backwards in a lot of things: drinking from the bottle, eating solids, and sleeping.

At one point earlier in the summer Sophie was doing so well with the bottle - even finishing some bottles completely. Now she occasionally completely refuses the bottle. Her GI recently said that we should try to get Sophie to eat more baby food (she said normal kids would be eating 3 jars a day and we were at 1.5-2 jars), but lately she's wanted less. I gave her Greek yogurt the other day for the first time, and she absolutely loved it. But I've tried it twice since then and she gave me this look like "What in the world are you feeding me? This is terrible!" Earlier this week she woke up around midnight and would not calm down unless I held her (standing up) and walked her to sleep. Now she's easier to get back to sleep, but wakes up 4-6 times a night.

A little over a week ago I found a new tooth that had broken through (her upper right molar). She still only has 3 bottom incisors, so I keep expecting the fourth incisor or another molar to pop through, but nothing yet. I am, of course, *assuming* (or maybe it's "hoping") that this is all teething. I guess only time can tell. It does make me believe that we won't be able to take her g-tube out until she has all her teeth.

Good news is that Sophie's developmental pediatrician was very pleased with the progress she saw from her last appointment. She says Sophie is doing things in the 6-8 month range, which isn't too far behind her 10 month adjusted age.

Sophie had a great time at her birthday party. We had the grandparents and a few friends and their kids over for swimming, dinner & cake. I wasn't planning on giving Sophie any cake (I didn't want her to choke on it), but she absolutely loved it!! Sophie's feeding therapist said that sometimes sweets make kids forget about any feeding issues they have. It made for some great pictures, too!

For the last two weeks Owen has been going to swim lessons 4x a week. He was a little hesitant at first, but at least a dozen times over the two weeks he would turn around (he sits on the steps waiting his turn) and tell me "Mommy, I'm having fun!" with a big smile on his face. He learned how to blow bubbles, climb out of the pool, hang on to the side of the pool and make his way to the steps, and "airplane" (floating). At the end of the two weeks he got a ribbon for floating by himself, even though he only floated by himself for 5 seconds, not the 10 seconds that they said he needed to do. At the center where we did the lessons, SwimKids USA, they also do gymnastics. Every day Owen wanted to watch them do gymnastics through the window, and wanted to do it himself. So in a few weeks he's going to move to once a week for swim lessons, and we'll add gymnastics in there too. I can't believe I'm already filling up his activity calendar outside of school, but swim lessons are important, and gymnastics will be good for him (and it's great that he showed such interest!).

From O So August 2011



From Sophie's 1st Birthday Party


From Sophie's 1st Birthday Party


From Sophie's 1st Birthday Party