An interview with Fragile X premutation carrier Scott Lorigan

[@peggycarrick5953]

I’m 66 years old and have a son 43 years old. He was diagnosed with fragile X at the age of 13. My grandmother , my father’s mother tested positive for fragile X when she was 82 years old. I understand this is passed from father to daughter, from daughter to son. Several diagnosed with fragile X in my family. I have tremors in my left hand, have problems with balance. So glad there is help out there. Thank you

[@kategwynne4658]

Thank you sharing this video. It's helping me to understand the progression of premutation carriers problems. I'm glad that Scott found some help in treatment of FXTAS.

[@ImpGimp]

Great interview! I am a carrier of a premutation with "only" 65CGG Repeats. I am diagnosed with an essential tremor, but FXTAS was not ruled out for me in the future. 27, male.

[@hypergirl9266]

Same 65 repeats premutation 32 female with tremors

[@ImpGimp]

@@hypergirl9266 Any other effects?

[@rebeccas3884]

Thank you for sharing the video! What is Scott’s CCG repeat?

[@flxmkr]

I wouldn’t mind signing up for studies, but I can’t even get a doctor to donate his signature. I have all symptoms right down to the rare fingerprints, but I can’t get tested...even though my insurance has already approved it and the local Children’s Hospital of KD has agreed to test me regardless of my quintarian age.

[@sharontaylor662]

I went to the registry address shown where is said page not found-error.

[@UCDavisMINDInstitute]

Here is the link fragilex.org/our-research/projects/premutation-registry/

[@sharontaylor662]

I am a carrier with 180 repeats. My sister, her daughter and 2 grandsons are Full Mutation. I am very interested in participating in studies.

[@UCDavisMINDInstitute]

Here are some current studies at the UC Davis MIND Institute health.ucdavis.edu/mindinstitute/research/fragilex/fragilex-current-research.html

[@flxmkr]

Does SHE ↗️ have Fragile-X?