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This is complete, ridiculous nonsense. He has a genetic mutation that has resulted in severe intellectual disability. The mutation has robbed him of the ability to talk and comprehend. Your views are insane. Get help. There actually is a potential cure that has been approved by the FDA for clinical trials.

That is almost always contraindicated in children. You can't say the affect it would have on you because you don't know her entire medical history and definitely aren't a doctor. You do realize if someone follows your directions and goes wrong... You are liable. Don't practice medicine without a license

Like pot would be the better of the seizure medicines rather than being so tired and drained plus it will help her sleep even CBD will. 😊

I bet they never thought of that. lol

They can go on as long as they need to. If you are a parent, you know that

@@elliesouza717 it is easy for u to say it on the internet. they need to be constantly be on care for the child. they would have little to no life at all. it will be extremely frustrating, extremely tiring. and the worse part is that they will have to do this forever until they pass because there is no cure. there is just no hope. very unfortunate for them.

Hi, @pigpink1971--this is Talya, Asa's mom! It is actually anxiety and virtually nonexistent language comprehension related to impaired synapse formation between neurons in his brain due to a mutation of the SHANK3 gene, which is on the 22nd chromosome and crucial to optimal brain function.

You seem smart and caring.

What's wrong with you?!

@shareneturner4737 Hi, this is Talya, Asa's mom! Like most people with Phelan-McDermid syndrome, Asa is diagnosed with autism--we just know the genetic cause of it. We have fortunately gotten Asa's self-injurious behaviors greatly reduced, for now, with a medication addressing anxiety, and now he is calmer, he is able to use AAC a bit more. But he is very limited in terms of receptive and expressive language.

Thank you, Kelli. We appreciate your engagement and love!

end time th-cam.com/video/8XE1vhTvJPg/w-d-xo.html

@rod-BP8ow Hi, this is Talya, Asa's mom. I do believe treatments are possible, and even cures, but they will come through precision medicine. A cure is likely out of reach because we are still many years away from that it will probably work best only for babies. But treatments are definitely possible. Phelan-McDermid syndrome is a genetic disorder known to be caused by changes to the SHANK3 gene on chromosome 22, resulting in an insufficiency of proteins in the brain that are crucial to formation of synapses between neurons (connections between brain cells), which is how we learn, develop skills, etc. After this video was made, we finally found a medication that has helped greatly to reduce the anxiety that was causing Asa's self-injurious behaviors. In turn, this has enabled him to pay attention a little bit better and to learn a little bit more. Asa also takes prescription CBD/THC to address his hyperactivity, and a medication that manages his seizures (at least for now--at any moment they could worsen). Just as various medications and medical treatments can help somewhat, I don't doubt that various non-pharmaceutical treatments can help somewhat. But none of these change the fact he is still profoundly disabled. There is no magic diet or supplement or sensory treatment that is going make his brain suddenly start making enough proteins for optimized brain function. You might as well say that a person missing an arm can grow a new one if you just make some key lifestyle changes.

You are the monster

Thank you very much for your support! Talya is a dear friend of mine, and I am a fellow PMS mom, like she. We are trying to move mountains, that's for sure! We appreciate your kind words!

Hi @sarabrett8502 This is Talya, Asa's mom. I am so sorry to learn about your daughter's passing. This diagnosis has been around since believe 1998 or so. However, it is only in the past 10 years that the genetic testing technology has advanced to the point that it is possible to diagnose everyone with Phelan-McDermid syndrome. And still many families cannot or choose not to pursue the testing that confirms the diagnosis. It can be difficult to get insurance to pay for new testing on adults who have autism, intellectual disability, etc. The original people diagnosed had rather large deletions of genetic material on one end of Chromosome 22 that were actually visible with the technology of that time--deletions of up to 100 genes. But in the past 10 years it has now been discovered that it is the deletion of one specific gene in that region of chromosome 22--SHANK3--that can cause almost all of the symptoms of this syndrome. Tiny mutations within SHANK3 can be as bad--sometimes worse!--than deletions of it. Asa actually *has* his whole SHANK3 gene, but it contains one extra letter that renders the entire gene as though it were not even there. Whole exome sequencing is required to detect SHANK3 variants like Asa's, and that technology has only been accessible for 10 years or so. It is estimated this syndrome actually accounts for 1% of all autism cases and 2% of all those with autism + intellectual disability. This was a long way to say that it quite possible is the case that your daughter had this syndrome. Much love to you!

@@talyaemerysilva6968 thank you so much .This seems to answer so many questions and symptoms. My daughter was diagnosed with begin hypotonia which is what I saw in a post. She had severe learning difficulties and none of the doctors could get to a diagnosis.Even at Great Ormond St Children's Hospital London.i can not thank you enough.x

She would also bite her arms until they were black so I understand what is like to watch your child hurt themselves x

@sarabrett8502 thank you for your reply and for sharing. May I ask, what was your daughter's name? We will hold her in our thoughts. Xoxo

Don't ever recommend that people just randomly try things... Especially with a medically fragile child. I've been an ER nurse for 25 years and I can't tell you the number of children I've seen come in clinging to life because some parent decided to "research" and play doctor to devastating results, even though some ideas seemed harmless

Over 30 years of legal green Dr. & Severe & disable : SDC educated to include PT OT & SPEECH THERAPY…

Thank you! We appreciate your support!

@newdimension4731 Hi, this is Talya, Asa's mom. Phelan-McDermid syndrome is a genetic disorder known to be caused by changes to the SHANK3 gene on chromosome 22, resulting in an insufficiency of proteins in the brain that are crucial to formation of synapses between neurons (connections between brain cells), which is how we learn, develop skills, etc. After this video was made, we finally found a medication that has helped greatly to reduce the anxiety that was causing Asa's self-injurious behaviors. In turn, this has enabled him to pay attention a little bit better and to learn a little bit more. Asa also takes prescription CBD/THC to address his hyperactivity, and a medication that manages his seizures (at least for now--at any moment they could worsen). Just as various medications and medical treatments can help somewhat, I don't doubt that various non-pharmaceutical treatments like diet can help somewhat. But none of these change the fact he is still profoundly disabled. Unfortunately, there is no diet or supplement that is going make his brain suddenly start making enough proteins for optimized brain function. It would be like saying a person missing an arm can grow a new one if you improve his diet.

No. Just no. Every word no

No, it's Phelan-McDermid syndrome. You can learn more about it here - th-cam.com/video/6EW-FivqxhY/w-d-xo.html

There might be an aspect of brain inflammation to some symptoms of Phelan-McDermid syndrome, but it is fundamentally insufficient levels of a certain very important protein in the brain.

Did you seriously just hope for a child's death? I lost a four year old many years ago. I hated seeing her suffer, but if someone had said this to me...I think I would have been locked up. Don't ever talk to a grieving parent .. You clearly don't have the sensitivity or common sense

You've seen on TV this works. You did not just say that! Do you know how dangerous your advice can be or that you can be liable if someone follows your suggestions and it goes badly? NEVER do this

@@elliesouza717 yes ellie i have seen it work!!! not just on t.v. of course she should talk to her doctor first.sometimes you grasp at straws.i am not liable for anything it was a suggestion. i am not trying to hurt anyone.i pray for that baby every day.

It is. I am also a mom to a child with Phelan-McDermid syndrome. It is horrific and dreadful. We are doing all we can to raise research funds to help put an end to this destructive condition.

I know. Sad. :(

Many similarities and comorbidities for sure.

Hi &seczajkowski, this is Talya, Asa’s mom. Autism is a clinical diagnosis based on observation of behaviors but not a causal diagnosis like a genetic disorder. Many genetic disorders cause autism symptoms, but most of the genetic causes or severe autism are not yet known. Asa is diagnosed with autism and so are about 85% of people with Phelan-McDermid syndrome. It is estimated that although many with Autism have not been genetically diagnosed, about 1% of people with autism have Phelan-McDermid syndrome, and 2% of those with autism + intellectual disability.

Yes, they have.

@@abbylievense8276 How do you know?

This video only shows the negatives in order to spread awareness dude… this kid probably has plenty of happy moments and his mother has stated he’s medicated. You don’t put down disabled children anymore ffs, it’s not 1940’s Germany.

You are truly evil to your very core.

It is very sad. Cruel and isolating. I am a PMS parent myself. It is a very tough life. Thank you for your comments.