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- เผยแพร่เมื่อ 14 ส.ค. 2024
- To take action, visit www.cureshank-fundraiser.org and consider participating in CureSHANK's first annual RAISING for RESEARCH fundraiser, which officially begins next week but is already live!
Phelan-McDermid Syndrome (PMS) is the most well-known and studied rare genetic disorder caused by changes to a SHANK gene. This is a story about how this condition transformed Asa from a happy, healthy, baby into a severely disabled young boy who engages in SELF-HARM.
About half of those living with PMS engage in CHALLENGING BEHAVIORS, such as aggression and self-injurious behaviors. CureSHANK is dedicated to accelerating treatments for this devastating condition.
"I would really like to know my child". That was heartbreaking. 😭
Yes it rough. im a father to a little guy with autism, perhaps he might function somewhat in the future. but there is like a barrier to his whole persona.
But this disorder seems to be way way worse :(
Only God can make a miracle,when we are are group of persons who pray for him.
@@ramonatricarico4405 not sure what that has to do with MY comment.
@@ramonatricarico4405Ach ja?!Und wie soll das gehen?Wird dann gesagt!!!!Hallo!!!!!!!Hier ist Gott(So Dein Hirngespinnst)Ich(Gott,kann/wii)Dir helfen diese Krankheut los zu werden,oder wie?
@@SandiByrdWas für einer ist das/wo steht der?
I clicked like hoping it would make this video seen by more people. I hope they develop treatments for your son and others with his symptoms. I am so sorry for what you all have been through. Thank you for bringing awareness to this disorder. I have never heard of it.
Thank you for educating. I hope your mission is fulfilled
They will!!!
You liking it brought it to my feed and I would like to thank you and continue your journey by liking the video
Wow never heard of this syndrome. It’s awful and heartbreaking for both the child AND Parents/Family.💔
My brother is autistic but is non verbal repetitively hurts himself to a lesser degree . It’s so so hard to see. This brings up so much in me too. I feel so much of your pain too. I pray for strength that we find a cure soon. To not be able to help a child from the isolation and suffering is so hard… thank you for sharing and speaking up! Continue to be the amazing parents you are!
As a the mom of a non verbal almost 3 y old autistic boy I feel you. ♡
Being the sibling is hell.
My sister is the same. It's very difficult to see them in such distress that they feel the need to hurt themselves. It's gotten better as she's gotten older but she still has her hard days.
I hope someone one day can find some cure for all these syndromes, so our children can have a normal and happy life.
Dear Lord please bless this beautiful child with your healing love 🙏😢
In the name of Jesus Christ, please God heal this boy and all familiy. ❤
I wonder why God made him like this in the first place?
I do not know. All I know is that God is Love. All things which God create are good. But people often choose life without God, our sins damage connection with God. I do not know history of this familiy. I only know that their only hope and cure is in Jesus Christ. Miracles are true, but we have to truly regret our sins, pray and hope. God love us all. We only have to open for love and accept God's rules.
@@magdalenacheczynska8539 ah, so you're saying that somehow this kid did something before even being able to speak that made god give him this disorder. What a loving God!
@@dingo9696 I have already find the answer. Evangelia by St. John:
Jesus Heals a Man Born Blind
9 As he went along, he saw a man blind from birth. 2 His disciples asked him, “Rabbi, who sinned, this man or his parents, that he was born blind?”
3 “Neither this man nor his parents sinned,” said Jesus, “but this happened so that the works of God might be displayed in him. 4 As long as it is day, we must do the works of him who sent me. Night is coming, when no one can work. 5 While I am in the world, I am the light of the world.”
Charlotte Figi- at age 5, she suffered as many as 300 grand mal seizures a week, used a wheelchair, went into repeated cardiac arrest and could barely speak. Her mother, Paige Figi, began calling medical marijuana shops in Colorado after doctors had exhausted all other options
Charlottes Web. Can’t hurt.
I was going to suggest this too!
How can it be any more harmful than what is happening to him now?
@@madjack8893 We, as PMS parents, have tried everything ... unfortunately, our children need precision medicine. We wish it could be treated with a little CBD (or even THC). It's a very very difficult (and often times lonely and isolated) life we lead. Thank you for taking the time to watch, and comment, we greatly appreciate it!
Such a poor quality of life. 😢
@@abbylievense8276 precision medicine doesn't seem to be working on this child.
Wow. Thank you for sharing such a heartbreaking story. Amazing work you and the other parents have done to work towards some sort of cure or help.
I’m so sorry that you and your family are affected by this condition. Praying for all of you.
This is so heartbreaking. My heart really goes out to these parents having to deal with this everyday. How do you keep your sanity? The daily pressure of this I can’t even imagine. Please give this more likes and get this more traction.
I can’t imagine having to watch a child I gave birth to, beat himself up like that. It must absolutely rip Mum’s heart out 💔. I hope to God they find a cure for this cruel cruel condition 😥
Oh my, this is really a terrible syndrome to deal with. I pray that a cure comes for the children so they can enjoy their life and mostly their families.
his mother is so sweet, it breaks my heart.
Found myself holding back a bucketload of emotions and tears! Heartbreaking.
My daughter is on the spectrum, was completely non verbal until the age of 6 (last year). Sierra will often hit herself extremely hard particularly around her temples and it would scare the living shit out of me. My heart goes out to you momma, you’re doing such a great job..you’re a wonderful mother. You have such a beautiful little boy, I’ll be praying for your family.
Thank you for having the strength to share your story. I really admire the mom's and dads who are dealing with childhood diseases and illnesses. You seem like an amazing mom. God bless all of you ❤️
Thank you! I have the fortune of knowing her and I absolutely concur, she is an amazing mom!
I hope new, helpful treatments become available. My heart goes out to this mom and her child -- rooting for you both and your family.
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 never heard of this debilitating, heartbreaking syndrome. I'm so sorry for anybody having to deal with it ❤❤
It is devastating, indeed. My 12 year old son, Darus, also has a SHANK3 variant, like Asa.
Praying for healing for this sweet little boy. 😢Jesus please heal ,and bless him,in Jesus Name. 🙏
Made me cry and I'm a oldish guy. Sending you love and prayers for you your family and that precious child for a cure.
Thank you
i really hope this gets more attention
Thank you! We appreciate your support!
So sorry that this is so difficult... I will say a prayer that he gets better.
Que Deus possa ajudar vcs a lidar com seu filho; pois ele não entende o q está acontecendo. Misericordia Senhor.❤❤
This just broke my heart. I will pray for this sweet child of God that he be healed completely. God bless him and protect him. Bless his family.🙏😢
😢
I hope he can be healthy now.
Asa is beautiful name. It means Hope in my language.
Thank you for sharing! #AnythingForAsa #AllForAsa
Thank you for sharing your story, my prayers for you and your child 🙏🙏🙏
I hope that a treatment for Asa and all the others is on the horizon
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
He's so handsome! I pray he gets better.
You are saying that u will only pray for him just because he is handsome...
@@jeraldthomas4381 She isn't saying she's praying for him because he's handsome, it's just a compliment.
OMG 🥺 I PRAISE YOU GUYS AS PARENTS 👍👋👋 BC I DONT THINK I COULD HANDLE THE SITUATION, WHICH IS A SAD THOUGHT 😢. I PRAY FOR YOUR FAMILY & THANK YOU FOR SHARING YOUR STORY.🙏😇❤️🥰
You are so brave to share you story. Bless you
Thank you for sharing your story. I cannot even begin to imagine what you and your family are going through. I am so sorry…I just have no words to express my compassion and hopes for you. Much love ❤
This just puts in to perspective how week we are as humans that a single mutation can do this … Allah is the greatest
Prayers and we will keep loving all these babies and getting answers❤
Thank you, Kelli. We appreciate your engagement and love!
Omg how terribly sad for the family, count your blessings every day.
It is very sad. Cruel and isolating. I am a PMS parent myself. It is a very tough life. Thank you for your comments.
What a pain 😢😢😢 that pain of him and the pain of mom feeling useless its just awful 😢 may the highest source come into his' help and healing 🙏
That’s a tough situation
It must cause a lot of strain on your marriage
God Bless your patience
Sadly, it broke mine.
Using sign language is also hard because it is processed in the brain in the same way like spoken language, not like visual pictures.😢 Oh dear, the world and especially people must be a sealed book for him. 😢
Oh I’m so sorry for your situation😢.
Thank you for your support
I've never heard of this! How absolutely terrifying!
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.
God bless you. My son is almost 4, autistic. I understand your family's pain 💔
To those of you talking about children being posessed by demons, I beg you, as a religious woman, to stfu. If you haven’t lived with people with conditions like this, you don’t know what you’re talking about. I hope this couple doesn’t have any more children while they are taking care of their son. I grew up around conditions like this and I wouldn’t wish that experience on my worst enemy. You religous people mythologizing this out of hand, I promise you that you’re making it worse.
Totally agree! Which part if this video did the mother talk about her families religious beliefs? She didn't. Pushing their religion on her in the comments and assuming she's the same religion is bloody disrespectful!
As a religious woman and mom of an autistic child i totally agree with you.
Thank you! I'm always shocked at people saying they are Christian and saying such foolish and truly heartless things
Bless you & my heart breaks for you! Please God let there be some answers for these children & their Parents. 🙏
I feel so bad for these parents and there is no cure.
You are so strong!
Im so sorry MOM! I feel your pain :( as a I cry myaelf to sleep with my son who has sensory processing disorder and generilized anxiety.
Gosh just heartbreaking...
Oh, you poor woman, I can't imagine anything as painful as what you are going through now. I am so sorry.
Lord have mercy, deliver this child and other children with this condition. There nothing impossible for you Lord. In Jesus name he is free from all oppression that comes to attack him. Thank you God almighty.🙌
I come in agreement 🙏
This is a genetic disorder NOT an oppression. Read the Bible and you might learn something
A beautiful boy...
A strong family...
🇿🇦
Gut-wrenchingly beautiful. Xoxoxo
Dear God please help this precious child, he needs deliverance. Please set him free ..give him and his family peace in the name of Yeshua. 💔❤️
I don’t want to sound insensitive…but is cbd oil a option. I know it’s not a cure all. But I just want to know if it might help with the outcome. I appreciate you telling us your story of what your family goes through.
Hi @Ezrait This is Talya, Asa's mom 🙂 Thank you for the suggestion! Asa was taking prescription CBD/THC oil at the time this video was made (and still is). It helps with his extreme hyperactivity but unfortunately was not enough to stop the development of the severe anxiety leading to his self-injurious behaviors. However, we did eventually find a medication that has helped to reduce these behaviors, at least for now. With this syndrome, the only sure thing is that things will change, often for the worse, but we are hoping this medicine continues to reduce these behaviors. Asa is still quite disabled in very many ways, but at least when he has his comfort items (iPad and snacks) he is usually mostly content.
I do wish people would stop offering advice
My son started hitting himself the sides of his face when he turned 17 and starting 2018 I fk why he becomes so sensitive to pple 's voices.If he hears any radom person talking,he will cringe and cover his ears with his hands.He puts his fingers to his ears even when he is sleeping.We used to go to shopping malls,fast food restaurants, supermarkets,new yr countdown but now he jus can't go any public places except at night where there are less people.A very kind lady asked me to give him fermented fish oil which I do.He takes a Spoonful of fish oil daily for 2 yrs it does help him.
My 8 y.old daughter has Shank3 mutation and we have the same problem 😥
God bless your child with his healing love 🙏
@monikawi9109 Asa has a SHANK3 mutation also!
@monkikawi9109 my son does as well ... SHANK3 variant
@@abbylievense8276Did you find a medication that helped him with his difficult behavior?
@@monikawi9109 Buspirone has helped Asa to greatly improve since this video was made, and it has been known anecdotally to be helpful for this syndrome. Definitely ask your doctor about it!
This broke my heart I’m an autistic 20 year old I’ve self-harmed myself a few times. 😢
Pray pray pray. Don’t know what else I can do. 🙏
♥️♥️♥️
Hi @dodgechargwr5040! This is Talya, Asa’s mom. I very much appreciate your prayers.
If you are able, contributing to CureSHANK will help us to further the science to help us get to targeted treatments. ❤️
My heart breaks for both,hope soon they find a cure,😢😢
Pray for those children in suffered support those parents they all got healing soon
What kind of help offers the government? None. Shame on our politicians.
I hope everything goes well
God Bless these families and members with such an affliction...
HOLY SPIRIT WE NEED YOU. ❤
This is a genetic disorder
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
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
❤ thank you
I'm so sorry. Bless your hearts.
This is REAL BEAUTY! ❤
My heart ❤
Try deliverance
♥️♥️♥️
It's genetic
why does the condition cause them to behave this way?
I wonder if medical marijuana would be of any benefit to people living with this dreadful condition?🤔
When my boy hit himself l hug him and sing to him to call him dowm he also has a swing, he say a couple of words but he never say mom either
🫂
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.
Thank you
Nnz 2591 is a potential treatment in phase 2 clinical trials.
🕋🇹🇯🧕🧕😭😭😭😭😭🤲🤲🤲🤲🤲🤲🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾🙏🏾💋💋💋💋💞💞💞🌹🌹🌹🌹🥰🥰🥰👍👍👍👍👍👍👍👍👍👍👍👍👍👍
Thank you for sharing. We're desperately trying to find a primary doctor to get a referral for a dentist that can sedate my grandson for treatment. How can we find a doctor? Insurance is of no help. We're in Oregon
Hi @ninjapm46 This is Talya, Asa's mom. We had to do this a few months ago because Asa developed THIRTEEN cavities during the time of his worst self-injurious behavior, when we couldn't brush his teeth and he needed snacks in his bed with him to keep him calm and not self-injuring. So i completely get it!
We are fortunate to live in a big city where it is not too difficult to find dentists that will take disabled pediatric patients. Asa's dentist works with an anesthesiologist who travels to his office every so often to do dental work on patients who need to be sedated. However, not every child is a candidate for out-of-hospital sedation. Asa is overall very healthy physically, so we were able to do this. If we weren't able to, we would have needed to go to Texas Children's Hospital (as we are in Houston, TX). If I were you I would start by contacting the nearest hospital specializing in pediatrics and find out if they do sedated dentistry or can refer you.
@@talyaemerysilva6968 thank you so much! 🙏💗
Luke 9:37-43
[37]And it came to pass, that on the next day, when they were come down from the hill, much people met him.
[38]And, behold, a man of the company cried out, saying, Master, I beseech thee, look upon my son: for he is mine only child.
[39]And, lo, a spirit taketh him, and he suddenly crieth out; and it teareth him that he foameth again, and bruising him hardly departeth from him.
[40]And I besought thy disciples to cast him out; and they could not.
[41]And Jesus answering said, O faithless and perverse generation, how long shall I be with you, and suffer you? Bring thy son hither.
[42]And as he was yet a coming, the devil threw him down, and tare him. And Jesus rebuked the unclean spirit, and healed the child, and delivered him again to his father.
[43]And they were all amazed at the mighty power of God. But while they wondered every one at all things which Jesus did, he said unto his disciples,
The mighty "power" of god??? Where was his power when this cruel disease happened??? He needs humanity to pray and remind him?
@@CharGC123
Satan and sin causes illness but PRAISE Jesus Christ he is our great Physician
This exact passage came to mind as I'm watching this story. Jesus is the only one to heal this child.
@@4hiskingdom836 then why doesn't he?
Healing is coming. I pray we have the patience and stamina to wait for it. God is not cruel, but genetics can be.
😢😢my baby also.. suffering epilepsy 🥲
Дякую
Praying 🙏🏻
this will be too tiring for the parents.i dont know how long they can go on like this
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.
You could just have him wear a helmet always and a pair of padded gloves.
Not easy to keep on
@lindajam8202 This is Talya, Asa's mom. Thank you for the suggestion! As @rachelhutter5084 commented, we have tried things like this and it is very difficult to get him to keep them on. This is one of the challenges with having a child who is profoundly intellectually disabled and/or psychiatrically disturbed but mostly physically healthy and very strong!
Trust in Jesus… Versus Mark 9: 20-26 May these verses encourage you to trust in the Lord and ask Him for complete healing. He is divine Mercy…
I can't imagine what type of monsters cys must be in cases like these.
You are the monster
Oh momma you do know your child…
He will stop when his arms get tired
Holy Father in Heaven please release this child from this syndrome. Try LOURDES IN FRANCE .
How did the mutation happen?
A helmet for the self harm?
I bet they never thought of that. lol
Why not a helmet?
He seems to be in pain
Nazy syndrome..and David syndrome
❤️🙏
I think he should be taken to the person who works with spiritual world. I remember episode from Jesus that He makes devil enter the body of sheep which all sheep fell down from the rock. I think devil makes this child suffer. Sometimes doctors cannot find a solution to illnesses where only God can help. I can imagine how wonderful can be if there is not a devil in the Earth.
No.
@@elliesouza717 Agreed
Prayers to you and your son for healing through our Lord Jesus Christ. ❤ I could not watch the video of him hurting himself. Is he on a whole food diet? I would eliminate any foods with food colorings, as well as processed foods and sugary foods, dairy, gluten and preservatives. Keep it strictly a diet with Fruits, vegetables, meat, fish and poultry. Mikhaila Peterson had to do the Lion’s diet for depression and severe arthritis. This boy obviously doesn’t feel good in his body. Food can be thy medicine or thy poison. It may also be a vitamin deficiency, brain injury or tumor. Have Dr Daniel Amen do a brain scan! He can help with neurological issues with brain plasticity therapy.
It is a neurological issue. FOOD will not change that
♥️♥️♥️
@@wellno9 I wouldn’t be so doubtful of what food and prayer could do to brain plasticity. Dr. Daniel Amen heals the brain through food and supplements.
Scammer, get out of here
So sad, what a heart breaking weight for the parents, my heart goes out to them. Why do all these religious people have to pray to their big kahuna to do the right thing when he allowed it to happen in the first place? That's like your parent pushing you in front of a bus and then praising them for driving you to the hospital! Ridiculous.
You know this is as bad as the nuts suggesting this is demonic. Atheists never disappoint... ALWAYS arrogant and condescending
Prayer is solution sis Name of Jesus have power please follow apostle kathryn krick God is with u right there
Prayer is ALWAYS good, but this is a genetic disorder
Now the extreme of that could be a creation of zombie .
Using brain chips to accomplish that.
TRY A HEAVY METAL DETOX....
This is as bad as people claiming it's demons
@@elliesouza717 HAVE YOU HAD HIM TESTED FOR LEAD HEAVY METALS??
Brain inflammation?
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.
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.