Discussions By Condition: I cannot get a diagnosis.

Undiagnosed 7 Year Old with Seizures, Mental Retardation, and Gait Ataxia

Posted In: I cannot get a diagnosis. 1 Replies
  • Posted By: CapricornMom
  • January 12, 2009
  • 04:49 AM

Hello everyone.... This is my first posting EVER to an online forum.... I'm at a loss and I'm hoping someone can help me...

I have a son who turned 7 in August 08. He is still undiagnosed, and I'm at a loss. I knew there was something wrong at about 6 months of age, and it has been a dead end with the doctors every since. He is still UNDIAGNOSED

The story is so long, and the list even longer.... So I'll post what I can, and we'll see if any of you can help me.

The list is as follows: No Impulse Control, Seizures (constant on the tests), Gait Ataxia, Some kind of neuromuscular disorder, SEVERE mental retardation (though the state likes to label it SXI - severely multiply impaired), At 7 he has the development of a 9 month - 2 year old depending on the skill, drooling and chewing are still a major issue, expressionless face (most of the time), high and low muscle tone, fixations on things such as water - Santa Clause - Frosty the Snow Man - Halloween Masks - Sand/Mud... several items, but when he's fixated he's literally beside himself when he can't have them or find them, he can not speak (and gets very frustrated when he tries to convey something he wants) but can not use sign or picture boards. He does have one sign - MORE - which he uses for "I want" and says "Jus" juice. He makes lots of sounds, and vocalizes everything loudly. When we go anywhere, he is so "beside" himself with all of the "happenings" around him he can't even behave, and even at home is constantly into everything. He also has no sense of personal space and pulls hairs, and bites/chews on everything.

Someone please help me... anyone... I'm looking for any ideas or theories you may have so I can present them to his team of doctors. We've seen Geneticists, Neurologists, Behavioral Specialists, Orthopedic Doctors, PM&R doctors, doctors for hearing, for vision, you name it.... so please if you have any ideas.... I'd love to hear them. Basically, the last thing I heard from the Geneticist is that we'll have to wait for technology to "catch up" a bit more so we can do more testing..... They even ruled out Anglemen's Syndrome, which by the way, several people have asked me if that is what he has....

Thank you,
Michigan Mom wanting to find peace and balance for her son

Reply Flag this Discussion

1 Replies:

  • Hi. I posted to your other post. Contact me through www.prisms.org What you are describing sounds very much like SMS, but through RAI1 gene deletion rather than typical c17p11.2 deletion. Brenda
    colbysms 5 Replies
    • February 2, 2009
    • 05:37 PM
    • 0
    Flag this Response
Thanks! A moderator will review your post and it will be live within the next 24 hours.