Genetic testing?

Rdmaggie

DD was diagnosed with Autism back in August, but genetic testing has never been brought up by her DP that is following her. After reading on a few boards about girls being dx with Retts and mito disorders it occured to me that no testing of this sort has ever been mentioned. Is it because she doesn't meet the more obvious criteria for Retts? She does mouth her fingers daily, but not bite, or neccessarily wring/wash - I did notice an occasional finger cross but she does not have scoliosis, bruxism, and her weight/growth are 75% in both areas. Her belly is always bloated which I attribute to hypotonia even though she has never been dx with that either, its still pretty obvious that her core strength isn't upto par. She can manipulate and fork and spoon satisfactorily but cannot/and will not use her hands to put her shoes on, rather she manuvers the shoe around with her feet before shoving her foot in (and usually giving up pretty quickly and asking for help). Some Autism parents I've spoken with said they were immediately reffered to genetics, but that hasn't been the case with us and I wonder why. We are confirmed one and done so I'm not interested in terms of having more children. I went ahead and left a msg for the DPs nurse to ask about it all anyway, but just wondering if it is pretty standard not to test, and what we can expect if they do. TIA.

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typeset

We were told genetic testing is the standard of care for an autism Dx, but admittedly at a hospital with a huge stake in genetic research. The other center we went to was more into pharmacological research and didn't push genetics at all. 

mightmom13

Per me being mito - I took DD into genetics when her multiple delays, medical, PLUS autism symptoms appeared after a major illness. They are now testing me before they test her with a recent new blood test (per they cannot get both parents' blood) to get an idea, following her, and recommending more testing for autism dx. 

One of the signs of mito is autism symptoms, and something amiss in 3 or more of the major medical systems in the body. Autism symptoms falling under neuro I believe. 

luckydogg

Were the 23 and me changes due to their information being 'woo'?  I thought it was because the FDA was concerned with people having preventative surgeries like masectomies based on the information they received from 23 and me without a doctor consult.  You can still order the test, you'll just get ancestry information and raw data.  The raw data can be uploaded to another site for interpretation.

No one mentioned genetic testing to us.  I did get mthfr testing from a doctor, not through 23 and me at my request.  After a positive copy I had a nutrient panel run and my son was deficient in many of the b vitamins and glutathione which is consistent with mthfr so we are supplementing with methylated b's.  This test is valuable so you know to be diligent about avoiding folic acid and nitrous oxide which can be very dangerous to those with mutations.

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kcisthebombdotcom

We kind of did the reverse--we did genetic testing first before we got the autism dx.

mommyof4boys

We were told new standard is karyotyping, fragile X, and micro array.  My son has a 16p11.2 duplication which is associated with autism.

Rdmaggie

I called the Nurse for the CNP who is following DD and expressed my concerns...speficially Retts. While I still don't think there is any outstanding evidence that she has it, I really want to put it to bed. I asked if it were a matter of bloodtesting or if they would refer me to genetics and she said they could just do a blood test, but that she would call me back at the end of the day after mulling it over with CNP/DP....of course she never called back yesterday, or today. Wonder if they will be off Monday for Presidents' Day? Blah.

mightmom13

McRib said:

mightmom13 said:

Per me being mito - I took DD into genetics when her multiple delays, medical, PLUS autism symptoms appeared after a major illness. They are now testing me before they test her with a recent new blood test (per they cannot get both parents' blood) to get an idea, following her, and recommending more testing for autism dx. 

One of the signs of mito is autism symptoms, and something amiss in 3 or more of the major medical systems in the body. Autism symptoms falling under neuro I believe. 

could it be lyme? we have lyme induced autism. i am asymptomatic but it definitely can affect 3 or more systems and cause mito. i had to get a lyme literate doctor to figure it all out.

My mito and DD's mito is caused at the DNA level so mito first causing genetic mutations at the DNA/cellular level THEN manifestations via disease processes.