Females and Fragile X syndrome

[@redredkroovy]

On the dyslexia thing there are 32 forms of it, Mine is the numbers , I invert them , will write down number copying a number. As a FXS carrier, It's TOUGH , I can tell you that. But my son, is THE BEST FELLOW EVER, he is such a blessing.

[@flxmkr]

Can someone explain how to jump the hurdle of doctor authorization in getting a test for the diagnosis? At my age (59), the children's hospital of Kings daughter is willing to test me, but only if I have a doctor's note. My insurance is willing to pay. But my specialist says it's outside their realm; they won't do it. My PCP won't touch rare conditions with a ten foot pole. They've even denied simple tests such as bone density. I'm not wasting a copay on something I know they'll deny. I have all the symptoms -including big ears-even though I'm a female. Even my Ancestry DNA traits says I'm an introvert and don't remember dreams. But they also said I was not a sun sneezer, so they've been wrong before. My son could be a poster boy for FXS (though he's a man). I thought he had marfans but that was ruled out. We have autism in our family, Alzheimer's (or some senile memory issue). My nephew has the high arch, flat feet, and autism. My grandson has autism. There are only two things I'm not sure about: whether the carrier is Mom or Dad (they both fit), and there's one symptom for males that...nope!...not going there. I have a microscope. Just tell me how to do the test. I've already pulled out ten hairs from my head...but I don't know what I was supposed to be looking at. I doubt any family members will allow me to pull their hair out. But I do have a finger pricker and I tried using food coloring as a stain. All that did was dyed one particular type of speckled cell and bleached all other cells. My daughter did have the Fragile-X test done on her son, and that should come back in a month; but even if it's positive, it doesn't prove I'm the carrier. It just proves either myself or my husband could be. Is there a way to fast-track this?

[@fragile_x_australia]

Hello. Testing availability will vary from country to country. We have testing guidelines and details for Australia only. Please get in touch with us by email : [e-mail]

[@flxmkr]

Fragile X Association of Australia I'm sorry. I missed the "Australia" part. I'm in America.

[@redredkroovy]

WOW, I don't understand why any general practitioner, or OBgyn, would have any issue with the simple cheek swab and blood drawn to test. I highly recommend getting tested, to ANYONE who has Autism in their family. FXS is the #1 single gene that causes Autism and it definitely sounds like, your family has characteristics. I had no clue, was 26,and had 3 kids already when we learned what was wrong with our oldest son. I am a Carrier if full mutation, and have the same # of "repeats" as my adult son, who is full mutation and considered " moderately mentally retarded", He's a great guy. I get so mad that they used to say Carrier females we're not effected, period. Horse poop on that! I've e struggled with Avoidant Personality Disorder, Attention deficient, mood , emotional regulation problems, and trouble mentally in general. BUT there is no way of knowing Which came first, or which co occuring disorders caused what, or do I even half some of my former diagnosed Mental issues... Am I REALLY just a FXS carrier, who was molested as a toddler until age 6-7, and That is what caused my PTSD, which is now CPTSD, and I'm definitely BPD, I've been diagnosed as Bipolar axis 1&2,Major Depressive Disorder, Avoidant Personality Disorder, Autism, clearly on the spectrum, General Anxiety Disorder... Etc... Etc.. I've sought mental health help since age 12.Meds never worked. Marrying an abusive Narcissistic older man did not help.

[@flxmkr]

@@redredkroovy My problem is finding a lab that can do it at this point. But I did order methylene blue and Giemsa red dyes so I could perform the rapid test. I have no cytoplasm in my small lymphocytes. When I compare them with a sample online that compares control with Fragile-X male and Fragile-X female, they compare with male Fragile-X patients. So at this point, I’m self-diagnosed Fragile-X. If a doctor wants to challenge me, be my guest. But the only problem is that I’m concerned about my family. They need to get tested, but they don’t take me seriously. I am a bit of a hypochondriac (I’m so afraid of being sick that I obsess over it). Also, I would like to know if I’m full mutation (which I’m convinced I am). Based on my siblings, I’m convinced both parents had it, my sisters got the premutation from my dad (who was premutation), my brothers got it from mom (who is full mutation), and I believe I have it in both X alleles. It would explain all my school struggles, big dumbo ears, flat feet, delayed talking, walking, and bike-riding, etc. I used to tape my ears against my head. My two front teeth were huge. I was a wet mess growing up. I’m female, by the way. 🤣 Not sure if I’ve mentioned that. When I read your post, I had to look up a few times to make sure I wasn’t reading my own post. 🙂 if you have more than 200 CCG repeats, you are full mutation. But you can still pass it on to your kids. I have a theory: even though males cannot pass this on to their sons, I can’t help but feel they can still pass on autism, if they are full mutation. If this effects every one of their cells, then it can also effect the sperm, couldn’t it? And even if they can’t pass the X chromosome to their sons, couldn’t their Y chromosome have damage if their cells are effected by the CGG repeats and methylation? So my theory is they can still pass something to their sons, even if it isn’t Fragile-X Syndrome.

[@flxmkr]

Also, I read somewhere that autistic kids and females are a magnet to abusers. I’m sorry you experienced all that.

[@jessicahanas692]

I found out I'm a Fragile X grey zone carrier when I was pregnant with my first daughter. I was told I shouldn't have symptoms, and it's only about a 1% chance my daughter will have Fragile X, if I pass down my affected X. What I find interesting, is I feel like I do have symptoms of Fragile X, including social anxiety and vision problems. I'm starting to worry that my now 3 year old daughter is showing signs. She seems to have signs of ADHD, she communicates, but isn't using as many words as I feel like she should be. She's also struggled with acid reflex, and can be hyperactive. She is 3 though, so I don't know if it's just her being a toddler. Has anyone seen this in "grey zone " carriers? Can anyone give me guidance/advice? I'd really appreciate it!

[@fragile_x_australia]

Hello Jessica. If you are in Australia, please contact us on our helpline 1300 394 636 or [e-mail] and we can put you in touch with a genetic counsellor or other medical professional who may be able to help with your questions. (If you are in the US, please contact the National Fragile X Foundation. If you're in the UK please contact the Fragile X Society. Or other country organisation.)