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

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5 жыл бұрын

What is Fragile X Syndrome (FXS)? It is a genetic disorder that affects the x chromosome. Symptoms include intellectual disabilities, autism, ADHD and more. FRAXA is a nonprofit whose mission is to research effective treatments & ultimately find a cure for Fragile X Syndrome.
FRAXA’s mission is to find effective treatments and ultimately a cure for Fragile X syndrome. We directly fund research grants and fellowships at top universities around the world. We partner with biomedical and pharmaceutical companies, large and small, to bridge the gap between research discoveries and actual treatments.
Treatments for Fragile X are likely to help people affected by autism, Alzheimer’s, and other brain disorders.
To learn more about FRAXA's Fragile X Syndrome research, to get involved with Fragile X awareness and events or to donate to FRAXA research, visit FRAXA.org
Let's Connect:
LinkedIn: / fraxa-research-foundation
Instagram: / fraxaresearch
Twitter: / fraxaresearch
Facebook: / fraxaresearch
Website: www.FRAXA.org

Пікірлер: 68

@mglaze13 2 ай бұрын

Thank you for the information. I am a speech language pathologist assistant, and I was recently given a client with the condition.

@sarahaguirre9071 2 ай бұрын

Thank you for the info dude 🙏 my son has it too ❤️😔 i hope they find a cure soon 🙏

@philippniemann8842 2 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 2 ай бұрын

Best of luck!

@philippniemann8842 2 ай бұрын

@@FRAXA thanks 😊

@gregphilipmusic 5 жыл бұрын

Thanks Malcolm, nicely presented.

@kit2250 5 жыл бұрын

Keep up the work!! Newly subbed

@melissamclean9982 4 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 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 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.

@silentfriend369 3 жыл бұрын

Very informative. Thank you.

@saibalchatterjee3132 4 жыл бұрын

Thank you very much for the informations

@notaxandria_7824 14 күн 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😢😢😢😢😢

@irenedavo3768 2 жыл бұрын

Only heard of this today!

@AprilPettiford81 3 жыл бұрын

I enjoyed listening to this information.

@FRAXA 2 жыл бұрын

Glad it was helpful!

@Olympasscee 3 жыл бұрын

Great information, thank you. I am currently using it for school.

@FRAXA 3 жыл бұрын

Glad it was helpful!

@elimelechs.l3246 2 жыл бұрын

me to

@luvtoyscollector3373 9 ай бұрын

Very informative 👍

@Roxyladytalk 4 ай бұрын

Thank you 🙏

@chicagoeric969 Жыл бұрын

Excellent!

@patrickbenja34 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 17 күн 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 5 күн бұрын

Fragile X has been around a long time

@ELW00dz 3 ай бұрын

I hope for a cure so bad

@PhilipNguyen. 3 ай бұрын

beg xavier for that lol

@df4250 11 ай 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.

@PhilipNguyen. 3 ай бұрын

its a gift not disorder are you a mutant hater again?

@sadida17 2 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 2 жыл бұрын

His genetic test came back negative. On to do further testing

@irenedavo3768 2 жыл бұрын

Any more news?

@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 Жыл бұрын

@@sadida17 Have you received your child's diagnosis yet?

@sadida17 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.

@NuvemdeIdeias_ 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 3 жыл бұрын

And? What happened?

@NuvemdeIdeias_ 3 жыл бұрын

@@EdithEsquivel the test was negative. His diagnosis is still a mistery. 😞

@darry.4387 Жыл бұрын

@@NuvemdeIdeias_ I’m so sorry

@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.

@LaurieSykora 4 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 2 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.

@saifulanuar1 2 жыл бұрын

has there been any advances in metformin as treatment of fragile x?

@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

@mistyriver1839 Жыл бұрын

What protein is it that stops producing with fragile x?

@FRAXA Жыл бұрын

Hi! It is FMRP. Thanks for your question!

@mistyriver1839 Жыл бұрын

Thank you, what role does FMRP play in the body. Could it affect the bodies ability to bind to free copper?

@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 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 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 Жыл бұрын

@@redredkroovy inspiration to know. At what age did he became conversational? Does he hold a job and live independently. Please respond.

@soranightstorm9262 2 жыл бұрын

Got a question how does PTSD effect people with fragile x syndrome

@redredkroovy 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 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