Does anyone have a child whose genetic testing showed a triplicate chromosome?! Or MULTIPLE mutations/deletions/duplications, and still nothing that matches ALL of their characteristics?
@A MyAutismTeam Member I agree with your answer in theory...however I also believe that the blanket ASD diagnosis needs to be fade away, and be replaced with the actual specific disorders that are currently making up the population to me it is similar to saying "cancer" with out considering whether it is bone, blood, or other type of cancer. But beside that point, it is actually not for my child I feel no guilt nor am seeking a "fix".... I was/am actually hoping for a diagnosis that will help explain to others that there is a solid reason for a a severe intellectual disability (which often looks similair to ASD)...anyway really just curious if anyone has ever had similar results, because the specialist we saw seemed as confused as me with the results and nothing "fitting".... he has multiple segments triplicated on one chromosome and duplications on 7 more!! That to me seems illogical that "nothing matches", even though all come with intellectually disability...
Genetic testing is expensive and often yields no meaningful results, other than testing for Fragile X and a few other disorders it really just tells you nothing. Whenever anyone asks me if they should get the testing done I tell them not to waste their money.
The truth is even if you were to find something is it really going to help you with treating your child, almost always the answer is no. If you are looking to erase guilt or any other feelings that autism is some way your fault this is the wrong way to go. The fact is you could not have prevented the autism and it just happened. Your money, energy, and time are better spent in therapy and medical care.
Our daughter had a duplicated gene. It doesn't really change anything but maybe it will contribute to a better understanding of autism for medical treatments in the future.
Our girl was diagnosed with MTHFR double gene mutation. Honestly I think the holistic dr that she was going to was a quack. I have done research on the MTHFR and if you believe traditional medicine it is no big deal as long as the homocystine levels are normal but according to some wholistic or functional medical experts it requires a host of supplements and and accounts for all kinds of problems.
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