I have been anxiously waiting to hear back from the neurogeneticist after Abby's MRI a couple weeks back. He and I have been playing phone tag for about a week now. I had a weird feeling since he was calling himself (and not the genetic counselor who usually does follow ups) and not just having me make the appointment for blood work. Today I finally spoke with him. So it seems we have some answers... a least somewhat.
Abby has an extremely rare congenital abnormality called Rhombencephalosynapsis. It means that her cerebellum which should be separated by the two hemispheres is fused at the midline. Our doc sent me the only known research study on this abnormality; it's from Switzerland and involves only 9 subjects. The study sites only 29 known cases confirmed by MRI study. The outcomes vary from profound mental retardation to fully functional cognitive function with marked balance, gait and tone issues. So it seems we are looking at a lifetime of the balance issues we are currently battling. It also commonly associated with eye movement problems. This will likely land us back at the neuroophthalmologist in addition to the regular ophthalmologist.
So it's neither good news nor terrible. We know that it sure could have been a lot worse. For that I thank God that Abby is in the more functional group. I can't help but feel a little sad though. Sad that we will never get answers. All we know is that it is not associated with any specific gene (although we will have genetic testing run next via blood work) and it occurs in utero. I feel sad that my daughter will never be "normal". She won't walk like the other kids. She won't play on the travel soccer team.
I know, I know... it could be worse and blah, blah, blah. You don't have to say it... I already know it. I am lucky. Very lucky.
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6 comments:
you also don't know these things for sure...if there are only 9 cases and that wide of a range, it pretty much means anything is possible, even soccer. She comes from a pretty athletic family, that'll probably help.
oh, and being "normal" is freakin boring dude, much better to be unique. She can probably land herself in some textbooks, ha! she's one in a billion.
And as much as answers seem like they'd be nice and comforting, having a perceived "course" in life can be restricting. Like the rest of us, you're just gonna have to take it as it comes.
but yeah, I can see how it would be nerve racking waiting to hear from the doctor, yuck. sorry about that.
Glad the news is neutral. Still a bit disappointed she doesn't have super powers.(that we know of...)
*hugs* It is okay to feel what ever you are feeling. I just know how LUCKY she is to have you for her mother because I know that you will do everything you can to give her all of the opportunities in the world, giving her the very best life no matter what the results of the tests said.
Wendy
I can't even imagine all you've been through to have your daughter tested and find early intervention help for her. I hope getting these answers helps you to strategize for the future, but that it doesn't limit your dreams for your beautiful daughter.
Finally some answers, you must feel both relieved and sad. As someone who has helped raise a disabled child who has never been able to be on the soccer team or run track or even speak understandably to strangers, I can say with most certainty that those things matter very little. She will excel and thrive in ways that will both surprise and impress you and fill your heart with joy.
My nephew is a 12 year old with the vocabulary of a college grad and a working knowledge of the combustion engine, the desalination process, and the usage and history of specific fighter planes...to name just a few things. And against ALL odds he can bike ride, horseback ride, and swim. It's amazing how they can fill their time while their "missing out" on soccer. : ) They said he would have little tone and major balance issues but I just saw that dude jump a ramp on his scooter the other day, so...
~Anon C
You are allowed to feel any way you want to. I'm glad you guys finally got some answers. She's a beautiful little girl with a big heart. *hugs*
Please email me nowittyname4me at yahoo dot com My name is Sarah and my son Zakary is five and also has Rhombencephalosynapsis. I have some studies and information about the condition if you'd like me to forward them to you. I am also trying to compile a list of conditions and traits my son has and send them out to others parents of kids with RS so we can compare. Doctors arent very helpful in our situations due to there not being many children with this condition so answers are very hard to come by. Maybe we can try and answer each others questions.
Sarah
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