Genetics appt

[luvboston]

We have one coming up and I want to gather all the info. Also any helpful tips of what to ask?

A little background DS has a Chiari but also an undiagnosed neurological condition that no one has seen before.

I am going to be asking about exome sequencing.

[chickypoo2468]

I believe WES is like the end all be all of testing. We had to do a neurodevelopment panel first, now MH, my other son, and I just sent off spit samples today so that they can decide if the variants/mutation they found matter. If they still have nothing definitive then the genetic counselor said the next step is to ask the geneticist for WES.

It might help to make a timeline listing any and all info you have. It's easy to blank when they're like "tell me everything right now". If you have had any testing done it might be helpful to have all the results in hand because it could influence the path they decide on.

Are the Chiari and neuro condition related? O is globally delayed but also has underdeveloped retinas, but the testing focused only on intellectual disability. I figured they would test based on his vision issue too but they didn't and I totally spaced on it til we had left and I don't know why they didn't bc I forgot to ask. So maybe just make some notes of what you want/expect to happen.

[luvboston]

They have no clue if they are related he's the first child in the world to have double arm paralysis due to a Chiari and then to have intermittent paralysis for no reason.

[brie]

luvboston this is not totally genetics related but my son's neurosurgeon is a world renowned Chiari expert and generally wonderful human being. He also answers emails.

I HIGHLY recommend shooting him an email. He's incredible, kind, and dedicated to finding answers (my son is also a rare case).

www.uchospitals.edu/physicians/david-frim.html

[mrsbuttinski]

brie,

How are you?

[mrsbuttinski]

luvboston,

No real advice on genetics per se, but be prepared that many geneticists spend a lot of time commenting on appearance. This is one way they get information as it might related to syndromes.

It can be hard to hear as a parent.

[brie]

Dec 19, 2016 4:38:42 GMT -5 mrsbuttinski said:

brie ,

How are you?

Oh, hanging in there.  Playing whack-a-mole with various issues and starting to get anxious about his upcoming lumbar puncture in January.  The usual.
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[di0607]

Have you all been evaluated for ehler's-danlos? There's a chiari institute in NYC that is nationally (possibly internationally) recognized. Let me know if you need contact info there. Wondering if they have seen anything like this before...

[luvboston]

He doesn't have ehlers. Thanks whatever he has is not chiari related.

[chickypoo2468]

Just wondered if you had your appt yet. If so, how did it go?

[luvboston]

We haven't had the appt yet but we did get back the microarray which was normal. Then we got Back the hemipeligic migraine panel and one gene has a mutation which the neurologist doesn't know what to do with so he's in the process of trying to get our appointment moved up and contacting people around the country. It's a gene only .002% of the population has and there was only 1 paper written about a 15 yr old that had the gene and neurological problems such as 1 incidence of ataxia as a toddler where my son has ataxia daily.