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.
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/.
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/.
Wow. I'm glad to hear you have a diagnosis. Sounds like a long road, but you have a great attitude.
ReplyDeleteSince we don't know what her intellectual/behavioral issues are she still could have all of those normal adult experiences!
ReplyDeleteI think you are incredible parents & with that cute, loving brother cheering her on... she's going to be one amazing girl.
Having a title will hopefully help in preparations & understanding, possibly acceptance.
If you need anything -we & I'm sure all of the frisbee family are here to help.
we love you sophie girl!
i don't care what they say about her facial features. I still think that she is the prettiest little girl in town!
ReplyDeleteIf you go to the Website, Isabelle is the picture that first pops up in the middle. This is Heidi Robinson by the way!
ReplyDeleteHi I have a daughter Sophie (24.5 months) who also has Kabuki syndrome. I knew something wasn't quite right from when she was born but it took us 20 months to get a diagnosis. Not sure how old your daughter is now? Sophie didn't babble either adn td 17 months her expressive language was testign at 8 months, but her receptive language was testing at 30 monhts. When she was about 20 months old we started sppech therapy with a therapist who specialises in treating kids with apraxia. Other types of speech therapy had not helped at all. Now at 24.5 monhts Sophie is speaking in 6 word sentences. her pronuncitaiton is poor, so lots more work to go with therapy, but her actual grasp of and use of language is age appropriate in all areas except articulation, and in some areas is above age level. her intellectual development is so far testing as normal. So don't lose hope just because Sophie is not babbling. I'm guessing by now you have found the Kabuki Syndrome kids facebook page and Kabuki Freeforums chat forum. if not - come on over and meet up with heaps of other Kabuki Mums :)
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