Autism in the Family

[RemyZee]

I'm not positive this is ok to post, but if it's not please just delete or let me know. It's about genetics and I know that is a touchy subject, but one that effects me because it is a slight rabbit hole, and i was wondering am I alone with this.

This is the issue: around 10 years ago due to some medical issues i learned i have ehlers danlos, discovered by genetic testing.Years later, after many medical anomalies that, while they won't kill me, they can make me wish they did. So, I have just learned more about it, and a geneticist finally seems to know what's happening. She said my genetic testing "indicates fragile x." (Which often occurs with ehlers danlos).

And she spoke at length about why she had that conclusion. It has been really profound to hear this: the more I read about it--deep inside I know i have fragile x. I have all the characteristics, both physical, mental and intellectual, and my genetic testing suggests it.

The problem is: I cannot get anyone to actually confirm this is what I experience. I have had numerous genetic testing that "indicates " something different--that i have "deletions": but none of the physicians will say: "you have fragile x," probably for legal reasons. So I'm left with this lifelong sense of not knowing who I am--knowing there are physical and mental things that are different with me, but without anyone who will help me by speaking authoritatively about what they find in my tests: "deletions " and what one physicians called "stigmata of fragile x."

Fragile x is also an intellectual syndrome. All my life I've had certain learning challenges and strengths--but have never been able to forgive myself for it: i have major intellectual strength s and major intellectual weaknesses, but without any information about who i am I have been slipping through the ether, holding myself accountable for being stupid: knowing I'm smart but basically unable to do certain things the way others do intrinsically.

I honestly think I have fragile x, but how do I validate this? My doctors just say: "indicates." I know i have fragile x! It pisses me off too because all my life there have been certain expectations because i am intelligent, but an inability to live up to what is expected for my age and standing. There is a sense i could have pride in who i am, but No one can confirm it! I am simply an indication.

 

[Ronald Zeeman]

Autism runs in my family. See weird patterns most popular surname in my family tree does not show in actual tree
clues the gene is carried by the women I discuss this in the DNA thread or the blood type thread.

 

[WhitewaterWoman]

RemyZee, I hear your frustration. I’ve lived with a chronic health condition no one will put a name to. For some reason, I think it is easier to adjust to a condition when you have a name to it. Maybe some of your frustration is in just not having a name.

Fragile X is a genetic disease and is not your fault. Some of the symptoms you describe could be Fragile X.

Whoever did your genetic testing should have given you a diagnosis and an explanation. You might want to consider getting a second opinion.

It might also help if you had an advocate to go with you when you get the results of the test. I find it difficult to remember and ask even the obvious questions without support.

 

[Jumpinbare]

When a doctor says a test suggests something, further tests are warranted. When a test indicates something, you have your answer. Indicates is as strong as a doctor will say. They will cover their liability by telling you the test indicates you have it. If in the future it comes out that the test was done wrong and is invalid, you can't sue the doctor for telling you what the test(s) indicated. If the doctor said point blank "You have fragile X" and later the test was determined invalid, you could sue the doctor for tellling you the wrong diagnosis.