Fragile X Syndrome (FXS) 10 Things You Did Not Know

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FRAXA Research Foundation

FRAXA Research Foundation

Күн бұрын

Пікірлер: 100
@mglaze13
@mglaze13 8 ай бұрын
Thank you for the information. I am a speech language pathologist assistant, and I was recently given a client with the condition.
@melissamclean9982
@melissamclean9982 5 жыл бұрын
My little brother has fragile x. My parents tested to see if we were carriers and my sister and I both are not.
@redredkroovy
@redredkroovy 2 жыл бұрын
Just know that even if y'all test negative, your grandkids can come up Autistic, sadly. And it has to be from your Mom if your brother has it, you can't pass it Father to son, if the Dad is full mutation, it's not possible. My Mom tested negative, total shocker cuz my Dad was perfectly fine. He had big ears, flat feet etc... But he was smart, ran his business and had beef cattle, etc... Did 3 yrsin Army in Korea, went thru Barber School in the late 50s... And graduated top of his class.
@jisimon
@jisimon 2 жыл бұрын
​@@redredkroovy If Melissa and her sister are tested negative CARRIERS as she states, this is genotype not phenotype. They are free of that gene. But their mother has to be positive CARRIER for their brother to be positive.
@sarahaguirre9071
@sarahaguirre9071 9 ай бұрын
Thank you for the info dude 🙏 my son has it too ❤️😔 i hope they find a cure soon 🙏
@jordanbrant6648
@jordanbrant6648 Ай бұрын
My oldest brother was diagnosed with this when he was about 3 years old. He is and has been the central beacon of peace and true love in our family. He's so full of life and laughter, me and my family have always said he is so unconcerned with all the things that trouble us in life but his love and support of us is so true and so constant, he is a daily reminder for all of us to always be grateful for the things that matter most in life! ❤️
@notaxandria_7824
@notaxandria_7824 7 ай бұрын
My nephew has fragile x...his father is on the streets refusing help off drugs and his mother died of cancer..I just got a message from cps today after years no contact saying he needs a place or he's going to foster care😢😢😢😢😢
@kaylahall1219
@kaylahall1219 3 ай бұрын
How is going?
@BigdadiSixty9GTC
@BigdadiSixty9GTC Ай бұрын
​@@kaylahall1219From the non response, he's probably in foster care
@gregphilipmusic
@gregphilipmusic 6 жыл бұрын
Thanks Malcolm, nicely presented.
@philippniemann8842
@philippniemann8842 8 ай бұрын
Thank you very much for the inside, Mr Larson 🙂 I am studying for an pediatric exam (becoming an OT) right now and those little facts really help me to memorize 😊 I wish you all the best, Philipp
@FRAXA
@FRAXA 8 ай бұрын
Best of luck!
@philippniemann8842
@philippniemann8842 8 ай бұрын
@@FRAXA thanks 😊
@ELW00dz
@ELW00dz 10 ай бұрын
I hope for a cure so bad
@PhilipKNguyen
@PhilipKNguyen 9 ай бұрын
beg xavier for that lol
@Ripplesinthewaters
@Ripplesinthewaters 5 ай бұрын
My step brother has this. His intellectual age is between 9 and 12, depending on the skill. He can add, but not subtract, he reads at a first grade level, and doesn’t have the skills to live without social service help. However, he does know that he is an adult, even though he may not know his age. Thank you for this video!
@Olympasscee
@Olympasscee 4 жыл бұрын
Great information, thank you. I am currently using it for school.
@FRAXA
@FRAXA 4 жыл бұрын
Glad it was helpful!
@elimelechs.l3246
@elimelechs.l3246 3 жыл бұрын
me to
@Roxyladytalk
@Roxyladytalk 11 ай бұрын
Thank you 🙏
@irenedavo3768
@irenedavo3768 2 жыл бұрын
Only heard of this today!
@NanaWilson-px9ij
@NanaWilson-px9ij 5 ай бұрын
Me too.
@kit2250
@kit2250 5 жыл бұрын
Keep up the work!! Newly subbed
@Flyboyminer
@Flyboyminer 6 ай бұрын
Great video, Tech. Sar'nt! Fly Fight and Win!
@Amandavasc
@Amandavasc 3 жыл бұрын
I am so sure my brother has it. He has been diagnosed to multiple neurological deseases and disturbs all his life (he is 15 now!) but none of those ever matched correctly to his symptoms. I just found out about the EXISTENCE of this desease about a year ago, and have been fighting with my mom to test him cuz he has every single symptom, including the face and body features. Finally last week i got the requirement from the doctor and drove him myself to make his test and i have been anxiously waiting for february 28th for his result!
@EdithEsquivel
@EdithEsquivel 3 жыл бұрын
And? What happened?
@Amandavasc
@Amandavasc 3 жыл бұрын
@@EdithEsquivel the test was negative. His diagnosis is still a mistery. 😞
@darry.4387
@darry.4387 Жыл бұрын
@@Amandavasc I’m so sorry
@luzonpls46
@luzonpls46 5 ай бұрын
Maybe SOTOS syndrome?
@sadida17
@sadida17 3 жыл бұрын
Thank you for posting this helpful information. I believe that I am a carrier.. My son is suspected to have Fragile X. We are working with a geneologist at this time. He does not exibit the facial features, but he is 3 years old, and mostly non verbal..
@sadida17
@sadida17 2 жыл бұрын
His genetic test came back negative. On to do further testing
@irenedavo3768
@irenedavo3768 2 жыл бұрын
Any more news?
@sadida17
@sadida17 2 жыл бұрын
@@irenedavo3768 Nothing yet. His appt with his geneticist got delayed.. tje day he was to go see her, he came down with the Flu. So all is on hold.
@asdfghjkln1175
@asdfghjkln1175 2 жыл бұрын
@@sadida17 Have you received your child's diagnosis yet?
@sadida17
@sadida17 2 жыл бұрын
@@asdfghjkln1175 Not yet. We are going to do a full spectrum DNA test, but it has not been fully approved through funding yet. We have an appointment with his behavioral Dr. next month. As he grows older, there are more things that are becoming noticeable, so we re going to ask for another Autism screening. Side note: I found out through a conversation with my sons geneticist that *I* have Elhers Danlos Syndrome, and the type may be discovered via the DNA testing. My son may have it too, bit it likely has nothing to do with his delays. So that was a happy surprise to find out.
@AprilPettiford81
@AprilPettiford81 3 жыл бұрын
I enjoyed listening to this information.
@FRAXA
@FRAXA 3 жыл бұрын
Glad it was helpful!
@saibalchatterjee3132
@saibalchatterjee3132 4 жыл бұрын
Thank you very much for the informations
@df4250
@df4250 Жыл бұрын
That was an excellent explanation of the genetic disorder. Just one question. You mentioned that the mutation causes a failure to produce a particular protein. Is it possible to synthesize the protein and supply it to the patient to offset the deficiency or is it more complicated than that? You mentioned the research going into trying to cure the condition via genetic engineering methods, but you didn't comment on whether the protein can be synthesized.
@PhilipKNguyen
@PhilipKNguyen 9 ай бұрын
its a gift not disorder are you a mutant hater again?
@Jana-w2e
@Jana-w2e Ай бұрын
Thank you for describing it:)
@luvtoyscollector3373
@luvtoyscollector3373 Жыл бұрын
Very informative 👍
@chicagoeric969
@chicagoeric969 Жыл бұрын
Excellent!
@teresamcnulty8471
@teresamcnulty8471 4 ай бұрын
Thank you. I had a child in my home for a couple of years that we tested for this...he didn't have it, but he had the ears and the developmental slowness. I passed out of his life, and wonder how he came out---we were seeking answers then.
@FRAXA
@FRAXA 4 ай бұрын
Thank you for sharing that experience. It sounds like you were deeply involved in his care and search for answers, which makes such a difference. It's understandable to wonder how things turned out for him. Fragile X can be a complex journey, and there are many factors at play in developmental challenges.
@silentfriend369
@silentfriend369 3 жыл бұрын
Very informative. Thank you.
@patrickbenja34
@patrickbenja34 7 ай бұрын
Starting to think that I have this fragile X syndrome.. Don't think this existed back in the '80s when I was born and diagnosed with ADHD but I also have a lot of social issues I don't like being in large groups with a lot of people, I am generally happy and laughing, along with other anxiety issues I'm 41 yrs old now when I was young in school I had behavioral issues and learning issues, They put me in the bad kid classes instead of the learning disability ones because My intellect was between regular kids and kids with learning disabilities
@FRAXA
@FRAXA 7 ай бұрын
A genetic test will give you the answer. Sorry to hear about your struggles through life. www.fraxa.org/fragile-x-syndrome/cause/#testing-diagnosis
@shadrach6299
@shadrach6299 6 ай бұрын
Fragile X has been around a long time
@kalyasaify
@kalyasaify 5 ай бұрын
as an autistic: trust me, neurotypicals (aka the "average ppl") are actually the weak ones with disabilies like low IQ, lack of empathy and other symptoms. neurodivergent folks are geniusses. don't trust researchers and better check out what the system does to us (there are many names, for example hans asperger, just check it out where this whole topic is rooted. humanity is sick...) I bet you'll understand as soon as you see the pattern. also check out temple gradin, she is brilliant, her mind full of facts. don't trust most ppl, their brains are TOTALLY different wired as well as the rest of our body. they won't and can't understand (because not smart + being manipulated by the psychopathic people of the system)
@SuperCookinggirl
@SuperCookinggirl Жыл бұрын
My grandson has fragile x, he also has Cerebral palsy. His doctors don't know if they are connected or not. He's 14 now, and seems the emotional issues are getting worse. Of course puberty may have something to do with it.
@mistyriver1839
@mistyriver1839 2 жыл бұрын
What protein is it that stops producing with fragile x?
@FRAXA
@FRAXA 2 жыл бұрын
Hi! It is FMRP. Thanks for your question!
@mistyriver1839
@mistyriver1839 2 жыл бұрын
Thank you, what role does FMRP play in the body. Could it affect the bodies ability to bind to free copper?
@heartfulhaidyn
@heartfulhaidyn 3 ай бұрын
What is the purpose of curing the condition? Like, what do people who are living with it want “fixed” in terms of their symptoms?
@felisfelidae6113
@felisfelidae6113 5 ай бұрын
Does insurance cover that genetic testing Fragile X? I was diagnosed w/Ehlers Danlos but I was never tested for the marker- it was clinical as I had all of the symptoms of Ehlers Danlos Syndrome. I’ve also been diagnosed with ADHD as a teen & Nonverbal Learning Disorder . Mild Ataxia, low muscle tone as well as Strabismus. From ages 18 months I had to wear orthotics & orthopedic shoes (hated those shoes) & had wear bifocals sun I was a toddler. Anxiety , depression, sensory processing disorder. What I understood is that Fragile X is the most common cause of Autism in the Ashkenazi community/ethnicity but not so much in the general population. So, I’m a bit confused Since I’m over the age 23, I don’t get any support. So, is there any benefit for me to get evaluated?
@FRAXA
@FRAXA 4 ай бұрын
Thank you for your question! Insurance coverage for Fragile X genetic testing varies, so it’s best to check with your provider. A genetic diagnosis, even as an adult, can offer valuable insights into managing symptoms like anxiety, ataxia, and sensory processing disorder. It may also help your healthcare team explore new treatment options. Consulting with a genetic counselor or your doctor could be a good next step. Here is some more info about testing for Fragile X syndrome: www.fraxa.org/fragile-x-syndrome/cause/#testing-diagnosis
@saifulanuar1
@saifulanuar1 2 жыл бұрын
has there been any advances in metformin as treatment of fragile x?
@FRAXA
@FRAXA 2 жыл бұрын
Metformin is still being studied, there is an ongoing large scale study of it right now. www.clinicaltrials.gov/ct2/show/NCT03862950
@soranightstorm9262
@soranightstorm9262 3 жыл бұрын
Got a question how does PTSD effect people with fragile x syndrome
@redredkroovy
@redredkroovy 2 жыл бұрын
Well I have CPTSD, pretty bad, and I'm a Fragile X Carrier , full mutation with adult son who has it. And I can't separate how it effects me, honestly. I've been diagnosed with a few mental disorders, but I think my being sexually abused from around 3 to 7,gave me the PTSD, and Borderline Personality Disorder. My first memory, ever, is floating about my brother, watching him touch me as a very young girl, under 4,I know. Thats pretty fkd up
@soranightstorm9262
@soranightstorm9262 2 жыл бұрын
@@redredkroovy my brother had six years of abuse aka SA that led to Rape and i hid that from everyone had tried to say something but i had to code it so it was hard to decipher. cause of my dad at the time shunning me from speaking about the abuse cause he was supposedly handling the situation. but having a bipolar and ADHD think he had some other mental health issues that were not diagnosed too abusive brother whom SA and Raped me
@LaurieSykora
@LaurieSykora 10 ай бұрын
This is concerning. Is there a special genetic test you have to get besides a normal baby screening at birth or a genetic test like at 23andMe? I'd like to know if my little one, who is 14 months old, could have it. Health issues that have been mentioned run in my family, but of course a lot of other things could cause these symptoms. Bring a mommy now just worries me since my baby was born 2 months early because he had to come out or we both could have died. I'm not sure if things I've noticed are other health issues or something like this mutation. Thank you for posting this and letting others know.
@FRAXA
@FRAXA 8 ай бұрын
Hi, There are testing options: www.fraxa.org/fragile-x-syndrome/cause/#testing-diagnosis Please use a medical geneticist at a local as medical facility as they will be able to help you best.
@ToynbeeNovia-u7p
@ToynbeeNovia-u7p 4 ай бұрын
Flatley Ville
@shirishytp1420
@shirishytp1420 2 жыл бұрын
My kid is 5 years old and is affected with fxs. No speech. Joined him in a normal school. We are so worried about his speech and behavioural problems. Will they get speech ?
@FRAXA
@FRAXA 2 жыл бұрын
Most individuals with Fragile X syndrome do become verbal to some extent but there are some who do not. There is, unfortunately, no way to know. Assisted technology is very helpful for language and reducing frustration, as is sign language for communication.
@redredkroovy
@redredkroovy 2 жыл бұрын
My son is now 36. He talked early, not late, He was a jabber box in fact. He loves to sing Bob Seger. Hope your child finds his voice soon. Time...
@mainakbanerjee2502
@mainakbanerjee2502 Жыл бұрын
@@redredkroovy inspiration to know. At what age did he became conversational? Does he hold a job and live independently. Please respond.
@DefoeVerna-k4h
@DefoeVerna-k4h 3 ай бұрын
Greyson Track
@CandycaneBeyond
@CandycaneBeyond 3 жыл бұрын
St what point is this considered a true disability?
@theflamingone8729
@theflamingone8729 8 ай бұрын
I support an adult with Fragile x, he is intellectually disabled, lacks fine motor skills and gets emotionally fixated on people for months.
@BobandBri
@BobandBri 2 ай бұрын
I have fragile x syndrome and I hate it
@familyiseverything1617
@familyiseverything1617 Жыл бұрын
Me too
@CarlPowers-v1r
@CarlPowers-v1r 3 ай бұрын
Jacobson Isle
@DorothyMejia-u6y
@DorothyMejia-u6y 3 ай бұрын
Carmela Road
@Eli-ju7zk
@Eli-ju7zk 4 ай бұрын
I have Frigial X syndrome
@FRAXA
@FRAXA 4 ай бұрын
Thank you for sharing. We're here to support you and the entire Fragile X community. If you're looking for resources or information, feel free to explore our website (www.fraxa.org) or reach out.
@morganforman3024
@morganforman3024 3 жыл бұрын
I have fragile X syndrome
@shirishytp1420
@shirishytp1420 2 жыл бұрын
How old are you
@theflamingone8729
@theflamingone8729 8 ай бұрын
​@@shirishytp1420at least 2 years old.
@AustinKama-n3t
@AustinKama-n3t 3 ай бұрын
Rollin Village
@LandonMyrna
@LandonMyrna 4 ай бұрын
344 Wilfrid Fall
@ЯрославШульгин-щ5и
@ЯрославШульгин-щ5и 3 ай бұрын
12871 MacGyver Turnpike
@JosephClark-d7f
@JosephClark-d7f 3 ай бұрын
Vito Neck
@CJSkelton
@CJSkelton 2 ай бұрын
IT has more hpd then people who have hpd and more autism then people who have autism fs😂😂 IT makes them look like they're normal
@JudithBarton-h1s
@JudithBarton-h1s 4 ай бұрын
Nils Shoals
@TeresaBoland-j5l
@TeresaBoland-j5l 3 ай бұрын
Dibbert Pines
@Circuit7Active
@Circuit7Active 5 ай бұрын
Nova Mentis Life Sciences (NMLSF) started on some kind of clinical trials for curing Fragile X over a year ago, but I have heard nothing since their "BIG" announcement. Does anybody have an update on their results?
@FRAXA
@FRAXA 4 ай бұрын
Looks like the study is still on-going. www.novamentis.ca/autismstudy/
@YücelÇetin-g2t
@YücelÇetin-g2t 3 ай бұрын
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