To call this disease heartbreaking or devastating is an understatement. I feel the pain of the mom. The helplessness and despair is beyond the words…truly tragic.
this narrative is othering her very own child. His syndrome is part of who he is- you know your child just you refuse to see that he is vulnerable and he has different ways of being. THERE IS NO NEED FOR CURE as cure is eugenics and also not realistically possible- but we can make sure he has a good life in relaced and fun ways and he is well supported to grow and show his own unique potential
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.
I’m autistic and I self harm. I’m trying to stop and I’m trying not to let my parents know so they don’t get upset bc they have already been through a lot of shit
So cute why kids? It is heartbreaking ❤️🩹 I love and hope and pray for your beautiful family. Each special needs baby is perfect in God’s eyes and is carrying a message to the world. ❤️🩹🤗😘🙏♥️ some choose to look away but I hear it I see it its love.
Please try medical marijuana it will help give her life back plus I don’t want her to die she will be so much more normal and she won’t suffer anymore please consider it please and then try Christiananity
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
@@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.
I suspect this disorder has some similarities with non speaking autism. Can you check if there is any facilitated communication training nearby? It may be the breakthrough you need and it led to us having a peaceful, calm homelife.
@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.
Jesus is coming soon. The Rapture. If you declare with your mouth, “Jesus is Lord,” and believe in your heart that God raised him from the dead, you will be saved. For it is with your heart that you believe and are justified, and it is with your mouth that you profess your faith and are saved.Romans 10. 9-10 so Christ was sacrificed once to take away the sins of many; and he will appear a second time, not to bear sin, but to bring salvation to those who are waiting for him.Hebrews 9. 28
my husbands nephew has Phelan MCDermid syndrome. his parents founded the chapter in Florida. He is 28 years old now and was diagnosed at age 4. stay strong mom !
This types of syndrome is curable. First..it is to be related to the parents both and their lifestyles before having the child, their historical ailments if there's any, second, the child can always be surrounded with safety gears, such as helmet (football type with cushion)designed to protect the cranium as well as the organs) for him nor to be hurt physically by himself, preventive measures, third, there are patients/children that can recognize letters, as well as write, it needs time to develop the skill as well, as the patient reaches adolescence, continuous supervision, fourth the child can be surrounded in an all cushioned environment, similar to a big ball or dome, it ASSISTS in releasing the excessive energy without causing harm to anyone and to himself, Fifth:Food Intake is monitored, there are types of FOOD that cannot be given to patients that suffers in these types of syndrome, such as Chocolates, sweets, MILK is also controlled since it has a calming effect or properties that it needs, aside from compound nutrients such as CALCIUM, Sodium Bicarbonate for bone loss prevention and being maimed. Six: the patient should WALK always with SUPERVISION, it can Remove the stress in all of its Circulatory, skeletal, endocrinal System. They all ASSIST in PREVENTION and REMOVAL of SYNDROME, similar to TOURETTE. Castor Rollers as well as Wheels placed on the Head gear also creates a therapeutic effect, since it is the Science of MOBILITY being administered from Childhood to Adolescence. PLDT SME/SMC/Manage Care/ General practices, surgeons, medical and administrative staff for patients records/Pediatrics/Oncologist/Pulmonologist/Virologist/Physiologist/Therapist-Chiropractors/Medtech/Radio Tech/Pharm/are well coordinated regarding respective expertise in internal medicine as well as neural/cognitive skills and disciplines. Tiers 1 and 2 Levels 1 and 2 for your respective expertise to account developments/in general medicine and science in these mentioned DX. Thank You PLDT SME/SMC/Group of companies for your respective expertise and developments. Thank YOU TIERS and Levels. Respectively certain ****PLDT SME/SMC/GENERALIST/GROUP OFFICES./.././,,,G.M INDUSTRIES...
@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.
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!
I've only just seen this diagnosis is it a relatively new diagnosis? As all the children remind me of my daughter .She sadly passed but would be in her 30s now. Love you you all x
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
If someone is interested in beginning a career in this specific type of biomed science,ie: the studies of working with Ipscs , can someone find out whattype of routes one would need to take, even if to just work somewhere inthe outer fringes? i am SO incredibly interested in these studies but havent been able to map out a specific path to take to getyself into this field
❤Blessings to a beautiful baby & family. Also, research CBD OIL administered against seizures & join other families giving their babies this organic oil.
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
Do they not have implantable electrical stimulators for the bladder ? Just wondering as all of these are such time consuming tasks … even when done with such extreme luv n tenderness…All the very best…
did doctors ever told you to look at the diet? did you know GLUTEN affects the brains as it affects the intestine? stop all sugar anything made with sugar, no juice WATER instead, no flour at all, stop the carbs fruits maybe and veggies easy to digest but give him LOTS OF MEAT, egg and fish and of course dairies stop the INDUSTRIAL process food IT S POISON
@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.
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.
Ich denke das ihre junge geholfen wird mit Gottes Hilfe. Ich bete für der junge. Wenn ich vielleicht bei euch persönlich besuchen könnte. Leider wohne weit. Ich habe viele Krankheiten vom paar bekannten mit beten Heilungen erlebt. Ich bin ein Muslim ich rate ihnen ein gute Muslime mit reinen Herz zu finden und ihren junge mit kuran täglich beten lassen. Vielleicht es ist heilbar für ihre junge auch kuran gelesene Wasser täglich zu trinken. Versuchen sie bitte. Wünsche für ihren junge die Heilung vom Gottes. Amen. 😮😢
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.
