Autism runs in my family. My DD (age 7) is high functioning. My nephew (my sisters child, age 3 1/2), is probably going to be high functioning also, he has drastically improved. My 1st cousin (female) is also high functioning. My nephew's father (my BIL) has an autistic 1st cousin, she is very low functioning.
So my sister had her son genetically tested in Nov. She just got back the results. My nephew has a rare genetic disease that 'could' be causing his autistic symptoms. 'IF" the meds they are starting him on soon work like the genetics dept thinks it will, his level of autism could be drastically improved. He has a poor enzyme deficiency, which causes developmental and autistic symptoms. He is going to start this medical intervention shortly. Because autism is on both sides of my nephews family, my DD needs to be tested to see if she has it or is a carrier.
So now we are in the process of getting my daughter to see the same genetics doctor at UC Davis MIND Institute. He was on the team that discovered this deficiency in the 1990s. They were able to genetically map it. Sadly, very little information is available online. The DR & his staff want to work on improving what is there for parents and other doctors so they can find out what its all about. The dr said the info online is very inadequate.
Here is the list of tests my daughter is due for later this summer:
-SCADD Test (poor enzyme deficiency, fatty acid disorder)
http://www.newbornscreening.info/Parents/fattyaciddisorders/ SCADD.pdf
-Carnatene Test (not sure of sp) (liver enzyme test)
-Heavy metal test
-High resolution karyotype (DNA Fragile X probe)
-FISH Test
My nephew has some poor muscle tone and can be very lethargic. While most have said that is very common for autistic kids, especailly those with fragile X, its also signs of SCADD. My doctor had never heard of it, now she is going to read up on it. But maybe this info will help some of you.
The genetics dr is concerned that it might run in my family, with the majority of us not having any symptoms. We might be carriers. So if my daughter tests positive, then the rest of us will be tested. But those who do show symptoms, they need treatment. If left untreated, the heart muscles will start to enlarge and lead to an early death. Some experience sugar build up on their brains, usually after the age of 12, and that can lead to mental retardation. There were a few other issues, but I didn't write them down. I was a bit floored and jumped into crazy mom mode getting appointments, referrals and insurance info dealt with. We are still in the process for the referral, but they think we will be seen by late August, early September.
Its alot to take in, but maybe some of you can benefit from the info.
Interresting - I would be really interrested to hear more as you find out more. So the rare genetic disease your nephew has is determined by a SCADD test? Does the disease have a name?
I suspect autism runs in the family, so your post caught my eye. Please keep us posted on what you learn.
Yes very interesting, I think aspergers runs in my family. keep us informed.Thank you for sharing this with us. It is very important information. Many children get an autism diagnosis without any biomedical testing to rule out treatable medical conditions -- even hearing tests are often skipped!
We discussed biomedical testing on the forum awhile back. Here's the link if you're interested:
http://www.autism-pdd.net/forum/forum_posts.asp?TID=14004&am p;am p;KW=biomedical
On that topic, Fred posted a list of biomedical tests from http://www.emedicine.com/PED/topic1780.htm.
Here's the part of the list that covers lab tests (the list also includes imaging studies and other tests). I've highlighted words that seem to relate to the tests you mentioned in your post:
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Norwaymom, thanks for the link. I don't here as often as I would like and am sure I miss alot of great topics.
I will keep you all posted on the outcome later this year. It takes awhile for the tests to get back and for us to travel to the hospital.
Good luck with the testing. I am thankful that our docs ruled outGood luck with testing..this the first time I have heard of enzyme defiency??
Very interesting. Keep us updated:)
vry interesting.
I wonder if this is why a lot of autistic children do so well after supplementation with enzymes? Or is this a much deeper issue?
Jana, will your insurance pay for the testing?
[QUOTE=BonBon]vry interesting.
I wonder if this is why a lot of autistic children do so well after supplementation with enzymes? Or is this a much deeper issue?
Jana, will your insurance pay for the testing?
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I am not sure about the enzyme supplements. This particular test (SCADD) will show if DD has it or not. But its very rare, so I am not sure if its the same thing.
The medical division of our med insurance is reviewing it and will send us a letter saying they will cover certian expenses of the testing. I already know they will cover most of it, we had the approval a few months back, but needed to add the SCADD to it. The left over portion is going to be paid by the regional center. Calif has a series of regional centers for persons with developmental disabilties, throughout the state that help pick up the tab for things like this. So that is great news for us!