A Kid with a Gene Mutation (Fragile X)
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- เผยแพร่เมื่อ 19 เม.ย. 2023
- Elias is diagnosed with a rare gene mutation known as Fragile X. He learns by watching his two older siblings who love spending time with him. Nolan, his older brother, believes the most special thing about Elias is that he is nice.
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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
Having ADHD and having to take care of three small children must be hard. Hats down to her
Wdym adhd is super common
@@BizarroGB ? Just because it’s common doesn’t mean it’s easy?
@@katelynvcm6185 easy for me
@@BizarroGB you're lying bro
@@militarydeviltube5014 had it my whole life bucko. Not my fault I'm built like 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. ❤️🌹❤️
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. ❤
Thank you for sharing all of this. I didn't know anything about this condition. Thank you for sharing the tips with this family.
Thanks for this comment. I've had suspicions for years that my older brother has fragile x. As far as I know, he's formally diagnosed as autistic, with ADHD, epilepsy, and moderate intellectual disability. He has many of the physical markers, but some became less apparent as he got older (he's in his mid 30s now). My suspicions have become even stronger since I began experiencing increasing health issues in my late 20s (I'm a female in my early 30s now), and am in the pursuit of an Ehlers-Danlos diagnosis. I'm starting to think that it's possible that both of us could have fragile x and am going to undergo genetic testing to confirm or rule it out.
Thanks for all the very useful info!!
His mum might actually be a fragile x carrier more than actual adhd it can be misdiagnosed because it’s similar
Mom is very patient & kind. Brother & sister are great, too!
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
uh, sounds like normal every day life
@@tylerberman7527I agree.
Life is hard. And the hardships of life makes the living easy.
@@tylerberman7527 poor moms
@@tylerberman7527 Whoooosh
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
I agree😊. My favorite is Ruby. She is so cute
Me too but I just love so many of these wonderful friends but Max has a special place in my heart 💜
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❤
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 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 "$@^
Such a curious kid! It must be fun to be in his life; his enthusiasm for everyday things would really make it feel like you’re seeing things for the first time again ❤️ /pos
Elias is amazing in his capacity to tend to his sibling's nightly routine. It's so heartwarming. If you didn't know better you would see a normal happy child. I mean, he is a normal happy child as far as we're concerned.
Another great story in the ever expanding book!
I loved the explanation of what ADHD is like. She nailed it! What a great family unit. ❤
I’m 2 seconds in and already Elias has stolen my heart 😭🥹 What a sweet, playful little soul. ❤❤❤
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.
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.
Thank you for sharing that. It's really interesting how the genetics work, and how females can be less symptomatic because the other X chromosome compensates.
Wow! That’s so interesting and I love that you explained the way it has been expressed in your family! I have an honest question: since you and your sister are carriers of the gene, would you consider having children knowing they may possibly be born with said genetic condition? I’m not judging in any way (and pardon if it may seem that way) I have just always been curious of the people who are carriers of any genetic condition/disorders and if they’ve thought of having kids and what life would look like! Blessings to you and your beautiful family💜
@@alanabruno I may not be a carrier, I haven't been tested, but if I were to be a carrier it wouldn't really bother me. At the end of the day, we're all born different and we should celebrate the individual, not whether they may or may not develop something due to a higher chance of a mutation.
Personally, I'm not interested in having kids and I cannot have biological kids anyway, but if I could and did, the kid would be loved no matter the outcome.
My sister who is diagnosed with it, she wants kids. She's in her early 20s and she may not be able to take the best care for herself, she struggles with some day to day tasks, but deep down she is a really compassionate and protective person. We've always said, when she can learn to take better care of herself and gain a bit more independence, she would be an excellent mother one day and I truly believe that she will be.
@@ImEnglish okay wow! Thank you for answering my question!
Me, my mom, and sister have fragile X syndrome too 🤗
Another great interview. Thanks Chris and Alyssa!
I loved the format and editing of this video!! The more dynamic style worked really well (e.g. filming in different places, arranging the order of certain clips to serve as montages), it tells the family’s story so well.
This is such an awesome thing to make people aware of I feel like this can go unnoticed and misdiagnosed in atypical children. Thanks for sharing, this is such a beautiful family with a patient mom and awesome siblings! He’s growing up in such a loving home. Also I love how patient Chris is. When Elias hit Chris with the egg I chuckled because he didn’t even flinch and wasn’t phased at all by it even in the slightest, the thud was the funny part I love how awesome Chris is with everyone. Thank you sbsk
I'm sure it must be awesome to have a little brother like Elias! He seems like a lovely and fun sibling, I'm happy to see them all enjoy time together
I've worked with many male teenagers with Fragile X Syndrome. Girls have it also but it is rare and more debilitating because of "the double XX" issue. Some of the children appear soundly on the autism spectrum. The teens that I've worked with this disorder have always been lovely when given schedules, structure, sensory regulation, and help to communicate. Many are empathetic and compassionate in ways that are often outside the ASD skill set. Love to all.
My little brother has fragile X, he is 28 and the happiest person I ever met. Always so positive and I would love if he was on this channel to show people how amazing people with Fragile x truly are as adults
I loved this interview. Elias reminded my nephew at the same age with his smile. I love the mom too, which I didnt got the name. I love how your kids were respectful and also joined the interview at various moments with u. I wish all the best for this mom
what a lovely, loving and capable mom - the connection between the siblings bears witness to the great job she is doing. I am in awe!!!!
Finally! I’ve been waiting for a Fragile X interview!
Wishing this family all the best now and in the future!
Elias reminds me so much of my 13 month old Orion. So cheeky, so full of life and energy, so happy. Little lights in this world ❤
Can we just appreciate the great subtitles on every single video? Amazing work to Chris and his team!
Wonderful kid, beautiful and gentle mum and Chris with that angelic vibe. Love from Croatia ❤
Awe love his smile so contagious peace and love always to you and your family and sbsk
You are sooo special🎉 Chris your such a blessing to this world. Thank you for your kindness❤
Look at that smile! All of the kids are so beautiful. Incredible mom.
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!!!
Good for you! Sounds exciting.
All the best with your new job Kenneth 😀
Yey! Well done Kenneth 😊
Good luck with your new job- I'm happy for you!
Thank you sooo much for doing this there's a few in my family that have this! I've not seen this mentioned much at all across the internet.
Mom looks like she is doing a really fantastic job raising three very sweet, smiling, polite, helpful children - their happiness and sweet personalities are a testament to her wonderful attentive parentin😊💗👏🏼 Thanks for introducing us to Elias and his family; a real treat to meet you all!
Elias, you are an adorable young person. Your brother and sister are pretty adorable too. Your mum is all sorts of wonderful. Thanks for introducing this gorgeous family to us, Chris. ❤❤
Very sweet family! ❤ That mom seems to be doing such a great job with all three kids and being quite young herself. Really admirable!
Beautiful family. Blessings to all of them!!
What an adorable little guy, oh my goodness. This is a sweet family, wish them all the best 🙂✌️
What a sweet boy and amazing siblings. The biggest gift one can give is the gift of a life. The Mother is awesome to learn about her son to understand him. Such an amazing Mom!
this channel is so amazing, you're doing such a great thing, chris. sending love always❤❤❤❤
Y'all are so strong! Thank you all for being such an inspiration to us all.
Bless this sweet mama. I hope she has some family close by to help out. I love how big sister and brother interact with their little brother.
Nice, I first learned about this a month ago. Thanks for sharing.
Fabulous Mum with wonderful children. Love your description of the chaos of ADHD too Mum! Perfectly described. Also love the way you take a backseat and let Elias have space to work things out. Hope you get to travel later in life one way or another even if it’s with Elias. I can imagine you’d meet a lot of folk with him in tow. Elias listens better than quite a few children of his age I have seen, you can see him taking things in. Best of luck for the future.
great interview. that thing with the umbrella was just so adorable lol
The bond all these siblings have with one another is so sweet!
Such an amazing mom. I hope she takes time for herself. ❤
Such a cute family ❤ Elias could learn sign language he understands everything !!
Nothing more beautiful than a family of three kids and a loving mother. Nothings stands a chance to break it ❤
Truly, early childhood is the best time to introduce routine (which is a practice of self-regulating). Nolan is delightfully smart and the way mom and sibs relate to each other:)
My son and nephews have this. It's so awesome to see people talk about this and educate others.
Thank you for bringing awareness to Fragile X!
Thank you for finally making a video about a frax child ❤️ I have three kids, daughter (10yo full mutation), son (almost 7, full mutation), and daughter (3yo, not tested yet but likely has no full mutation). Like this mom, we had never heard of fragile X before having our son diagnosed at age 3. He also has autism and ADHD, and is completely non-verbal. He’s the happiest little guy ever, we love hil to bits, but it’s been hard because there’s still so little information about this syndrome out there, and they’re all so unique. Thank you for spreading knowledge about these beautiful kids 🙏🏼
I’m so happy to see this, my siblings and cousins have fragile X and many people do not know what it is. I’m glad by this one video thousands of people can be educated.❤
To the Mom Thank You for Your Service because as a spouse of a soldier your support is priceless 🫡🫡🫡🇺🇸🇺🇸🇺🇸!
This mommy is a rockstar. She is doing amazing!! It’s hard enough bring a mom, but with three kids and one with a disability? She’s doing it all alone and she’s doing it so well!❤
Ridiculous how adorable he is!!! I can't handle it!!! 🎉😊
Chris. I think what you do brings a world of information to those of us that are ignorant to the uniqueness of of every genetic disorder
Sweet Elias. That was my grandfather’s name and now we have a baby cousin named after him. May you have many many happy days 🥰
This Elias is an especially cool kid. Very glad to see how much his brother and sister love him and how he loves them. The happiness is really there despite the challenges. Family is love. All our love and prayer in support of this great family and Elias.
As always, informative!
I loved this video as someone who as fragile x too we need more representation I am 27 now and getting ready to move out with my boyfriend soon of 4 years and hope his little man gets to live amazing life too ❤️
This makes me wonder how many people dxed with autism actually have fragile x. Certainly not all of us and probably not even most but most people don't recieve genetic testing in their life and fragile x seems basically like genetic autism.
I wondered that too.
Exactly what I was thinking ngl
Autism is an umbrella term for all developmental disabilities that science cannot yet explain. Autism is not one condition.
@@quinncreel6091 Those would be referred to as unspecified neurodevelopmental disorder, which is a valid diagnosis.
@@emilbirb No, I stand by what I said. "Autism" is a catch-all diagnosis for a long list of unknown disorders. It sounds better than "unspecified disorder", because it implies doctors actually know what they are talking about when in fact they don't.
What a sweet kid! What a beautiful, caring family.
God bless this little guy, his mother and the rest of his family! He is really cute and I find his mother with ADHD truly super courageous and strong to take care of three children! They form a happy family and I wish to them the best. Amen!
you are doing great Elias!
Wow this mom is exceptional, great kids, congratulations!
These two girls amaze me. God bless them the rest of their lives. 💞
I’m glad to have been introduced to something new today. I also appreciate how the mother explained how carriers can be impacted. I always imagined carriers not being impacted by the conditions they carry, except when it came to having kids.
I'm learning the ropes to work in theatre and tbh theatre tech is a very welcoming environment, so Elias might find a really exciting career in lighting design 💙
Chris seems like such a fun person, I hope I can do an interview some day.
What an adorable little family
Love how when you asked the siblings what was unique about him, they said stuff like his kindness and willingness to help out, rather than his condition
What a sweet, positive, loving family! How hubby/dad comes home soon. 😊🇺🇸👍
So interesting to see this as a med student currently learning about the fragile x syndrome
Great video
What a beautiful little family. Thanks for sharing your life with us! Must be tough with your husband away on deployment. I hope you are able to find a good balance once you are together again. It must be incredibly hard to accept having to care for another person their entire life. My grandmother spent her life caring for one of her sons who had a traumatic brain injury at age 17. The accident left him the mental and physical capacities of a three year old. And yet, my grandma and my Uncle Phil were best buddies for decades. Once her other three boys grew up, she and my grandpa spent their adulthood traveling around the world with Phil. He can't walk too far or talk or engage with the world other than to take it in, but boy did he have a good life! He especially loved cruises and playing slots in Vegas. Cruises offer a lot of opportunity for routine and schedules. It's impossible to predict what your family will grow into, but I tell you this story in hopes that you won't let go of your dreams. Includes Elias in them if possible! It was truly precious to have this trio in my family, off on their adventures, only counting the blessings, never even acknowledging disability as a limitation. I wish you all the best! Much much love
Such a great job 👏
This mum is such an angel, raising three kids with ADHD cannot be easy
All the best to her ✨
I love the mom’s description of adhd! Spot on! Not a smooth path to the finish line! :)
I'm a teacher & have had two students with Fragile X. We always had fun, they were sweet kids to have in class.
I was an aid for a boy with fragile x for 5 years! His family had 4 kids and 3 of them have fragile X
I love your channel
This is a bright, inquisitive, beautiful boy. What a joy!
It just feels so off to me that someone now uses autism to explain a condition and every knows how exactly what that is. Growing up in the 70's my brother was diagnosed as autistic and no one knew what it was. I spend so much time say " no not artistic AUTISTIC". It's really amazing how that has changed.
All those children are so beautiful and adorable.
Such a sweet family.
What a kind mama! I have never heard of Fragile X so I’m glad I know now. Comparing it to autism makes sense and helps me understand as an autistic myself. ☺️
What a happy cute little guy, and a great family!
This mom is a rockstar! And this family is adorable ❤
I have fragile x myself I'm 34 and I also have a learning disability I get emotional easy from it I go to a day program and I'm in a job program as well working on getting a job and apartment my sister and I more high functioning then my brother is . and I do a lot of hand flapping and rocking as well
I just sent an email for an interview and it's a success story hopefully we can get an interview 🙏
I love people with Fragile X. There were 2 brothers with it in a place I worked and they were just the best people to work alongside. Fragile X and Williams Syndrome have some similar characteristics, alongside autism. The absolute loveliest people to know and work with.
I need to say something: Elias' smile is beautiful. 😊😊