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genitics question

Posted by on Mar. 22, 2010 at 8:30 PM
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Has anyone had their child go through the testing in genetics? I have an appt in Aug for my lo who has lots of issues but noone can give us the right answer. She will be 18m on the 23. She is behind on many things. She doesnt walk, she only says about 4 words(mamma, dad, bubba, hot). We saw a neuroligist but we didnt like what she said about Cassidy. She told us that she has a form of cp in her legs and wants to out casts on her feet. Since she said that she cant stand flat on her feet when she can.

by on Mar. 22, 2010 at 8:30 PM
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lifetimelove
by Group Owner on Mar. 23, 2010 at 2:36 AM

My daughter has been through several genetic tests - the chromosonal array, the SNP array, and several specific tests.  They all turned up negative.

Why didn't you like what the neurologist had to say?  Do you not think that she has CP?

I wouldn't agree with the casting for her legs as a first treatment for CP.  My daughter has foot orthotics - they're cute little shoe type things that go over her ankle, they help position her feet.  She stands flat on her feet sometimes, but she tends to position her feet oddly.  The foot orthotics help.  It's weird that the neurologist would suggest casts.  Has your daughter been seeing a physical therapist?  Any other therapy?

I wouldn't be too worried about her saying only four words.  My son (my "normal" child) didn't even say mama and dada at 18 months, he just said ba (ball) and one or two other random words.  He turns three tomorrow and talks non-stop now.  =)

But if your daughter isn't walking then she definately should be seen by early intervention.  Have you gotten a referral yet?  They come to your home and do therapy.  It's very helpful, and the physical therapist should be the one suggesting what kind of medical equipment is best suited for your daughter, if any.

Have a child with special needs?  Don't have a diagnosis?  Come join other moms of special needs children without a diagnosis at my group:


www.cafemom.com/group/undiagnosed


 


busymom3910
by Member on Mar. 23, 2010 at 8:32 AM

We are in genetic testing right now with our Bayleigh. We've had several tests done and all have come back negative except this last test. We are waiting on the official report on Angelman Syndrome. My husband and I had to provide blood samples for gene comparison.

I agree early intervention is a great way to get your LO the help they need. Bayleigh through Tennessee Early Intervention receives physical therapy and occupational therapy for an hour each once a week. She's also on the waiting list for speech therapy.

Her feet are turning in and her PT has already told us that when she can stand (10 months old now and can't at all stand) that we are going with the braces first. Her neurologist has never once mentioned anything about her feet. He strictly deals with her neuro issues.

The hardest part about genetic testing is the waiting. It typically takes 4-6 weeks to get results in and those are the longest for us. Good luck and we're here for support.

loving-hoping76
by New Member on Mar. 23, 2010 at 8:46 AM

Yes, Ella has had a huge amount of genetic testing and the ONLY thing that has come back abnormal is her lactate levels, which actually indicates a metabolic / mitochondrial issue. So, now we are seeing a Mitochondrial specialist, who just had us have mitochondrial blood and urine tests to test for disorders of the mitochondria. It is difficult to wait, like busymom said. 

As for the cast issue, I really don't think that is for neurologist to decide. A Physical Therapist or even your peditrician but not the neuro. Yeah, I agree with everyone else, def. get a PT and possibly Occupational Therapist and even a Speech Therapist through your State or County's Early Intervention. They can help immensely! 

Good luck!!!! Thinking about you! 

amy76jo
by Member on Mar. 23, 2010 at 12:41 PM

Yes my daughter has had lots of genetic testing. Though genetic testing has come a long way there is still a lot of things that can't be found in genetic testing. There are many diseases, syndromes and disorders that still don't have a testing method for them. With the new genetic tests there have been a big increase in finding chromosomal mutations, but there is still much that they can't find. There are also many genetic mutations that are found in mild cases of syndromes, I would suggest anyone with a child with delays, autism and cp to get genetic testing such as the Micro Array. Even if it were negative retesting at a later date may be helpful since the testing is improving quickly. The micro array tests for much more than it did a few years ago and there are different types.

Amy Clugston

Syndromes Without A Name http://www.undiagnosed-usa.org/

conni72
by New Member on Mar. 23, 2010 at 12:41 PM

She does go to early on for pt and opt. But all they do is play.  Her peds doesnt think she needs to casts since she does put her feet down the right way.

cheer316
by Member on Mar. 30, 2010 at 10:11 AM

He that sounds very similar to my son. He will be 18 months on the 21 of April. He has been in AFO braces since November. They do a casting but then form a har plastic brace that velcros on and off. My son's tone in his legs is very high and 90% of the time he is on his toes as well. I will tell you they are frustratsting for kids that crawl. Since he has no balance he can't stand unsupported and so most of traveling is crawling. It takes some time for them to get used to their foot being flexed back.  We have been through genetic testing( all normal chromosonal and bloodwork) MRI, EEG and then just alot of specialists. If you don't like the therapy she is getting get a referal for an actual PT. Here in KS the EIP is lame. 1 therapist can come once a week. SInce my son needs OT 2/w and PT 3/W We have to go elsewhere as well.  Hasd your daughter had an MRI yet?

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