Let's Talk Fragile X Premutation Carriers and Health

Fragile X premutation carriers have long expressed concern over issues they might be facing because of having the premutation. Only in recent years has research been making headway into the reality of premutation carrier issues.
Our latest Let’s Talk! Webinar features Dr. Randi Hagerman discussing the premutation, its symptoms and the reason those symptoms exist. She also offers some insight into how to stay healthy.
Links to articles mentioned can be found here: fragilex.org/2015/carriers/ad...

[@keririchter]

I am a 44 year old premutated carrier with two adult sons ages 26 yrs and 24 yrs. No one in both sides of my family have children like mine... no cousins, no siblings.. no one. I do not know which side of my family it comes from but I am guessing my fathers due to the fact that I have 2 brothers that have children and grandchildren with no problems at all and on my mothers side 2 half sisters with children with no problems. I am starting to realize several medical issues I have are due to being a premutated carrier. I have severe muscle pain (they say fibromyalgia I disagree) Anxiety, depression, mood swings, Lupus, neuropathy and other issues. I need help. Where can I get it

[@medini2]

IMO, try proactively researching into nutritional solutions.for fibromyalgia, observe if the pain occurs an hour or so after eating----if it does, try treating the pain with protelytic enzymes which will break down proteins the body does not recognize cause pain/ inflammation. Avoid processed food and gmo. (they tell you to "diet and exercise", but fail to tell you that you must avoid gmo's and vaccines which are not labeled!). Must examine your symptoms as possible mineral/nutrient deficiency symptoms to even get close to helping yourself. Pay close attention to Magnesium, in particular. reflux, heart palpatations, neuropathies, etc.==quadrad of "vitamin a, d3, k2, magnesium" and especially, trace minerals and selenium iodine, etc.
i have not been tested, but am fairly certain i have been/am in the same boat.

[@idaliamartinez8203]

Hi Keri I’m 40 year old and I have 108 repeats have a son 17 years old don’t know if his a carrier I’m afraid to find out because I know I got it from my father I’m now presenting with lot of health problems lot problemas doctor runs a bunch of test and they came out with fibromyalgia but I’m coming out to release that it has do to with frágil x carrier I’m also with ANA ups and downs and a lot of muscle pain and twitching😔😔😔

[@melissar1992]

Does a repeat of 30 really mean your out of the woods. My husband has 30 repeats but severe adhd with mild autism symptoms. I have no repeats. My stepdaughter presents with alot of female fragile x symptoms. We will have her tested soon. I know she could receive more repeats from her mom. His testing said under 45 is no issue. I question that. We know based on 23 and me the child is heterozygous ANK2, ANK3 and NF1 (which are associated with ASD) from mom's side so possible compounded issues? MTHFR genes are also involved and genes for Ehlers danlos syndrome. My husband had 1 febrile seizure episode prior to 2yo.