PDA

View Full Version : Fragile X



Jennifer in VA
02-07-2012, 06:20 PM
Meet with a neurologist today for our oldest and his learning glitches. Doc wanted blood drawn to take a look for Fragile X and any Thyroid issues. Forgot to ask how long till we heard back - oh well. Of course I had to look things up and it sort of sounds like our oldest. If it is him, we may be doing all we can for him.

Will be calling another department tomorrow for a more in depth educational testing.

On Feb. 22 we go in for an EEG to rule out seizures that don't present in the usual way.

Has anyone gone through anything similar? How are you managing?

Lisalyn
02-07-2012, 09:57 PM
Jennifer,

We've been through all of this testing for our two youngest. Turns out that they were negative for Fragile X (sort of surprising, I think). My 10 yr old had abnormal EEGs, labeled abnormal spikes, waves, and seizure like activity without seizures. This is something that as many as 40% of people with Autism have, but never have obvious seizures.

His official diagnosis is Asperger's, ADD, Abnormal EEG. He takes anti-seizure meds and they have made a world of difference in his learning capability. HUGE difference--he jumped 1 1/2 reading levels in 6 weeks!

My youngest son's EEG/MRI was completely normal. He has high-functioning Autism.

I can't remember how long the results on the Fragile X took. The EEG/MRI results were immediate.

Feel free to PM me. :)

Hollie in SC
02-08-2012, 08:32 AM
:group:

Jennifer in VA
02-08-2012, 09:04 AM
Thanks LisaLyn! No real questions yet! Still fact finding and potentially trying to line up the help he needs.

Thanks for the hug Hollie!

JennyO
02-08-2012, 11:12 AM
:group:

Jennifer in VA
03-04-2012, 01:36 PM
Would you believe, we finally heard back from the Doctor on the 29th!?! Four voice messages and one email asking about the labor and it took over 3 weeks to find an answer.

All the labs they ran came back just fine. His EEG was fine as well. We meet with a pyschologist on the 13th of this month to beginning more in depth testing.

**LAB work****

Hollie in SC
03-04-2012, 03:25 PM
:group: So frustrating. Praying for you to find what you need to help him along.

Lisa TN
03-04-2012, 03:53 PM
Would you believe, we finally heard back from the Doctor on the 29th!?! Four voice messages and one email asking about the labor and it took over 3 weeks to find an answer.

All the labs they ran came back just fine. His EEG was fine as well. We meet with a pyschologist on the 13th of this month to beginning more in depth testing.


My son had all of that testing done years ago and everything came back normal as well. He was later diagnosed with high-functioning autism (but not Aspergers as his language skills were severely delayed).

Hang in there - I hope you find some answers soon!

Sue C
03-04-2012, 10:44 PM
Hope you find answers. I was all excited when I saw the fragile X. Our family is VERY affected by it. My son is developmentally disabled, one daughter has a math disability, the other has Asperger Syndrome. But, I guess this does not affect you but if there are any other Fragile X'ers in the group I would love to hear from you....not to high jack the thread. :) I hope you find the answers you are seeking. So frustrating with no answers! :group: