A Kid with a Gene Mutation (Fragile X)

Having ADHD and having to take care of three small children must be hard. Hats down to her

I have Fragile-X (I’m female). My child was just like him when he was little. He has a family now. If you don’t mind me adding, some of their signs are large ears, long face, high forehead (long face and high forehead may appear later in life around puberty), hyper flexible joints, soft velvety skin, developmental delay, Mitral Valve Prolapse (not the worst heart issue to have), scoliosis (have his doc keep an eye on his spine as he ages), flat feet. The interesting thing about Fragile-X is we have autism, but it doesn’t resemble the typical autism. We do like to make people laugh. We do want to have friends. We will make eye contact if that person isn’t making eye contact with us. 🙂 We are people people, until we get bullied and mistreated. Those behaviors toward us can bring the social avoidance out in us. And even when we are treated well, we can become overwhelmed with crowds, people, or certain people who are too wild or rambunctious. We do enjoy our lone time. Oh! And we are great imitators. It’s much better to place Fragile-X kids in a regular classroom. They’ve seen Fragile-X kids placed in special classes come home and act like the other kids in the class. They are at risk of picking up behaviors seen in kids that they never had before going to that class. It is awesome that he has two siblings he can imitate! Please encourage them and explain how important they are in his development. I don’t know where I would be without my older sister. But I said all this to say he may not be with you your whole life. He may be able to outgrow the nest and have a family of his own. It’s not an impossibility. 🙂 Oh, and the CGG repeat is 45 - 54 Grey Zone 55 - 199 Premutation (carrier) 200+ full mutation The real definition of Fragile-X, however, is FMR Protein deficiency. Thank you for sharing your story. ❤

Despite mom’s issues, and being a young mom, while hubby is deployed, she has been able to accomplish a lot with three small kids. They aren’t screaming for attention, and they are helping their young brother. Very nice to see that

Elias is such a happy little boy and his mother’s attention to his unique needs is a testament to her love and patience. I hope she gets support herself with her husband being away on deployment. Chris, you are a light in a world that often seems to be growing darker. Thank you for the unwavering commitment you have to the community of “special “ individuals. ❤️🌹❤️

A mom with ADHD taking care of three kids by herself? It sounds like a heavy load emotionally, I hope she’s getting some help or support for herself too

Mom is very patient & kind. Brother & sister are great, too!

I love how his siblings incorporate him into their regular activities and loved that he was watching them and learning from them. Their joy and love for their brother were such a beautiful thing to watch. 💕

It's nice to see a young mom speak her mind, and nice to see a parent speak so honestly about what their hopes are for the future. She is doing such a great job and her kids seem so happy. Thank you Chris for bringing this representation to light!

Your stories spread so much joy and hope in the world <3

all of these kids are so sweet, i'm really glad that we are able to share this experience with you chris.

Thank you SBSK for always educating us on so many unique, awesome people❤

I have a friend who had 3 boys until they found out they all had fragile x. Her husband went to prison for life and she took custody of his neurotypical son. He was the oldest and 10 at the time. She cared for all those boys alone in the sweetest way. She introduced them as "the lights are on and somebody is home...just in a funky house" I loved her sense of humor about it. Alyssa is her name. They are all grown ups now. Genetics are so fascinating. Hawk was my sidekick "$@^

I have a mild intellectual Disability myself and very independent I like to go fishing and shoot archery I'm also gonna be getting a paying job with a job coach I had a job before The Coronavirus hit now 3 years after COVID 19 I'm gonna be getting a job in the community!!!

He's such a beautiful little gem of a boy. I have an MSc in biochemistry and it feels so surreal to actually see and meet people with these conditions that only seem to exist in textbooks and on PubMed.

Elias is such an adorable individual!

Hi Elias! It was so cool to see you in your very own video :D You’re so lucky to have an awesome brother and a sister too, and I bet you guys have a ton of fun.

I’m 2 seconds in and already Elias has stolen my heart 😭🥹 What a sweet, playful little soul. ❤❤❤

This episode is really touching to see as my family has a fairly big history with Fragile X syndrome. My mum and auntie is a carrier, my sister and Cousin have it. (Me and the rest of my siblings could also be carriers for it we haven't been tested) My sister has a lot of issues due to the mutation such as ODD, ADHD, speech and language problems, but for the most part is a functioning human. My cousin, is a young lad (9 years old) and still cannot speak full sentences, can only say a few words and I can see that frustrates him, but you need to take your time, pick out words he can say and try and get what he means based on those words you can pick out. He's very sociable and talkative and friendly and I can tell he wants people to understand him. He's lucky he's with a supportive family that won't give up on him. Seeing Elias here remind me so much of my Cousin. A happy boy bursting with energy. Thank you for always being a positive influence in this world.

I loved the explanation of what ADHD is like. She nailed it! What a great family unit. ❤

It was fun having more footage of the family going about their normal activities in addition to the interview. Maybe think about experimenting more with it in the future.