Understanding Fragile X

This video, made in 2012, explains Fragile X syndrome, its signs and symptoms, treatments, and how it is passed on in families. The video features Dr Randi Hagerman, Dr Jonathan Cohen, Dr Natalie Silove, Mandy Croft, and several families sharing their experience.

[@dragonslayer7115]

i work in a residential home ..4 men with autism and fragile x ,we do loads of activities for them and i love supporting them ,they are amazing ,i love them all

[@redredkroovy]

Leah Edwards... THANK YOU for all you do for our beloved FXS kids!!

[@esjonne4211]

We have a notorious Fragile-X patient in Finland and we need your help!

[@mihailkosolov3089]

EI OLE MITÄÄN SYNKROOMAA

[@margotro7728]

My son is 32 now. He was initially diagnosed with ( adhd ) age 6. I knew he was different even though he was my first born. His sister was born 15 months later and became his teacher. Back in the day he had speech therapy and numerous other health support but he has never been formally diagnosed. A blood sample taken at the children’s hospital when he was 8 years old got lost and they didn’t want to re test him as he was not in the age group they were testing.at the time. Watching this video made me realise that he still needs a formal diagnosis on paper even though I’m sure hr has fragile x with a dash of Williams’s syndrome. At first I thought it was a reach diagnosing him myself but after much research combined with my symptoms, ( educated by this video ! ) of early menopause ( diagnosed finally when I was 36 ) many years ago. I will promptly get he and myself tested ASAP! I have just had my 5th grandchild, I need to know! Iv been my son’s career for so long, I need to know! He should also know! In saying that, he is an outstanding son and member of the community. His differences are accepted and his positives are embraced and appreciated. It made a difference moving far away from the city to a country town!!!

[@FishHive]

My son has Fragile X and he is the sweetest boy ever! I love him so much

[@foammac2]

Very informative and helpful. Thanks!

[@magdadube8489]

I was saddened to here him mentioned to terminate a baby with Fragile X 😞 they are sweet individuals and they just want to be loved and give love ❤️

[@redredkroovy]

I would NEVER even consider not having my FXS son, He is literally the purest soul you'll ever meet. Pure Joy to have him in our lives.

[@lobsterwhisperer7932]

i love the uplifting piano sounds they use in medical videos

[@ELW00dz]

The waitlist here in Canada is years long :( for diagnosis

[@katherinespencer2073]

Too bad that I can't hear this even w. my speaker & extra speaker set on highest level. A highschool freind of mine in later life had 2 boys who had this condition and she wrote a book after years of research & life experience raising them. Ended her career, her marriage, most of her friendships. Being so tied down, such demand for her time especially by teen boys there wasn't much of her own needs that were met. She sadly looked beyond her age years & was always in crises and worn down. Even sadder, died very young.

[@Ikr2025]

I am becoming more & more convinced fx is the explanation for the range of conditions in my family. My middle son was dx with autism and was tested for fx but results came back as ‘normal’. He was dx with gdd at age 4. I’m now feeling suspicious that the ‘normal’ results were either incorrect or perhaps on the periphery of normal and perhaps he has a pre mutation. I’ve always sensed there was something different about me & my family. I’ve always been highly sensitive and had odd muscle tone. My father developed PDD in his late 60s, 70s - so that fits in. He and I have the same square jaw that I’ve always thought was odd. He had slightly protruding ears as did his younger brother. I have adhd type issues, as do several on my father’s family and my youngest son. He also has soft skin, poor muscle tone and flat feet. Both my sons have slightly protruding ears, nothing too obvious, luckily their father has very flat ears. My son with autism has a high narrow palate. My youngest son has very obvious adhd (not dx though) and my daughter is highly intelligent but also has autism symptoms. Learning difficulties and eccentricities run through the family on my father’s side so I suspect the carrier gene was passed from his mother, my grandmother. And was passed on to all 4 of her children and it is now showing up in the grandchildren. As far as I know no one has been dx with the full fx syndrome but there are so many matching symptoms I feel like we all need to be tested. The worst effected grandchildren are from the two boys (my father and his brother) and they both had protruding ears and flat feet. They did not have cognitive delays but my father was certainly eccentric and I wonder if some of his apparent high level of narcissism was really a form of autism. A complicating factor though is that my father’s father was also dx with PDD. So it was always assumed my father also had PDD and it was hereditary. I’m now wondering if both grandparents were carriers because my grandfather also had the large ears, long face and difficulty with his feet. He was intelligent but fairly withdrawn. Both my aunts had issues, one has autistic/narcissistic and adhd type traits similar to my father. My other aunt had crohns and died of cancer. But obviously any traits passed down to me and my children and my cousins children would likely have come from our father’s via our grandmother.

[@redredkroovy]

My oldest son, Jesse, is 36 now. He can read on about a first or 2nd grade level, mostly thru memorization. He graduated from high school, schools in America, HAVE to give special needs students IEP.. modified school work and goals, where they WILL end up with a diploma, graduating with their class. It took his special Ed. Teacher, a saint of a lady named Liz Ripper, two years and 6 weeks for him to KNOW money, what bills, coins, and paper checks WERE, the difference between a $5 and a $50,etc... and it was a STRUGGLE. She was the BEST thing about his years in school. Sadly, there was another boy, his best friend, Sammy, who didn't get enough Oxygen at birth, and was left, much worse disabled than my son was, and the kids at school choose to pick on Sammy, far more than Jesse. Jesse was liked, for the most part, although his younger brother got into several fights defending his big brother, having some one more disabled, turned out to be a blessing for my son to be able to mingle in with the kids a little easier, and gave him a best buddy for years. Jesse ended up taking care of his Dad, who went down hill for about 8yrs,after diagnosed with diabetes, and 2 heart diseases, ending up in a wheelchair with one leg he couldn't feel, for many years.. and our son was the only one left at home, so He did everything, mowed yard with push mower, laundry, light cooking, walked a mile up the road to get mail, rain or shine. And then he died, and left no plan for our son, then 30,who had never had a "guardian" or any outside involvement from the state, etc..... Currently He lives with his deceased younger sister's husband,who's his age,and 4 of her 5 children.He sweeps the floor and loads dishwasher every evening after dinner,helps mow and helps walk family dog.He goes to day program,he enjoys, especially bowling,and his men's group,and he's had a girlfriend,for 2yrs,who is also disabled,few yrs older,and He's happiest he's ever been in his whole life. Mom's,be brave,they can and will far exceed your expectations,I promise you.They said he'd never ride a bike,drive,or function somewhat "normally"...They we're wrong.While we don't let him drive,He has far to much anxiety and response time wouldn't be there...BUT...He has ridden bike since age 8 or 9,took awhile but...He plays guitar,sings,has great sense of humor,is loyal,trustworthy,and a sweetheart 98% of the time.He does have sensory overload, esp sounds like fireworks or gunfire, and he is obese, he sneaks food, and always will. ( Watch their thyroid's!!)... He's gained at least 160lbs since his Dad died, but is starting to loose some, and is walking with the family, for exercise. At some point he will probably have to go into assited living, but that's alright, He gets along fairly well in social settings once he's comfortable. Have hope y'all.

[@MainakBanerjee-hi1ik]

@redredkroovy So grateful to know about Jesse. Would like to understand about his speech issues & what age he started talking, finally becoming conversational?

[@uncivilized007]

Cowen? Cohen? cowencidenceDr John?