Duchess (b/c I know your child has similar condition) — The Bump
Special Needs

Duchess (b/c I know your child has similar condition)

Hi,

I just wanted to ask how Isabelle is doing?  I don't know if you'll remember my posts, but my 8 month old has microcephaly, hypoplasia/partial agenesis of the corpus callosum (just found this out about 1.5 weeks ago), and hearing loss (he wears hearing aids & is being evaluated for cochlear implants).  We are waiting for the microarray results.

Anyway, I thought it would be nice to have someone to chat with; I have so much anxiety about the whole "wait and see" thing.

Melissa

Re: Duchess (b/c I know your child has similar condition)

  • "Wait and see" is the story of my life :)  It's gotten to the point where my husband and I have to laugh a little bit because we have never had a doctor's appointment where this hasn't been the outcome.  Recently we went to the eye doctor and it was the same - her optic nerve (which was small on MRI) looks ok to the dr but she has an astigmatism which was too hard to measure so she may or may not need glasses - no surprise there the answer was come back in 6 months and we'll check again!

    The good news is that in general Izzy is doing well.  Her heart problems are still mild (she has Ebstein's anomaly, WPW and an ASD) and require no treatment, which is great.  We don't have to see the neurologist because she has no acute problems that need treatment.  Her MRI showed her corpus callosum, brain stem, optic nerve and optic chiasm were all small (hypoplasia) but what that means is of course a matter of wait and see!  She is in PT and OT through EI and making progress but she is about 5-6 months behind in development in all areas.  Most of her doctors have referenced her a special needs kid - but of course we have no idea what that will mean.

    We have done a microarray which was normal and we've also tested for Rett, Prader-Willi, Smith-Lemli-Opitz, peroxisomal disorders and hypothyroidism.  Everything came back normal.  We are planning to see another geneticist just for a second opinion but it's most likely she has some sort of rare disorder with no test for it.  And so pretty much we will have to see how she develops.  We are comfortable we are doing everything we can right now - but it can get overwhelming at times - particularly when we have to rehash everything at doctor's appts.   The great thing is that she is a super happy baby and she has recently started babbling and is able to pick up her cheerios.  So we are celebrating our little accomplishments for now!

    How is your little one doing?  Is he in EI?  How are the hearing aids working out?  Please feel free to reach out any time.  Having someone to talk to who can relate has made a huge difference in my overall happiness.

  • sorry to butt in on your post but just wanted to say hi.  my son also has the "wait and see".  he has microcephaly, "thin" corpus collosum, delayed myelination.  he does have a seizure disorder and is grossly developmentally delayed.  we have had all the same tests as duchess.  nothing has come back yet.  our biggest battle at the moment is his hypotonia.   even though progress is excruciatingly slow, he's progressing and we are happy for that!

    not sure i can be of any help but also feel free to contact me any time!

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  • Hello from another momma of kid who an unknown genetic syndrome. Here's looking to the pros of our situation- no one can tell us our child won't achieve anything they set their minds to do. 

    And maybe we don't have a group to belong to- except the group of the unknown! 

    Unite!!! 

    [IMG]http://i50.tinypic.com/294l44i.jpg[/IMG]
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