What is SYNGAP1 | Rare Genetic Disorder | Special Needs Day in the Life | Diagnosis after 14 years

[@KelliKyle]

I write about receiving the diagnosis on my website here: kellimcintosh.com/syngap1-rare-genetic-syndrome/

[@raebro8893]

Your website is not working! Kyle is a sweetie pie!

[@KelliKyle]

Thank you! And, yes, my website is down for the moment with technical difficulties! I'm working on it today! 😊

[@angelhowell5420]

My 12 year old daughter has Syngap1 and was diagnosed in 2015. This was a wonderful example of the challenges and joy we experience daily. We’ve also been on keto for going on 9 years now. I don’t often see many other kids on the diet as long as we have been.

[@KelliKyle]

I'm so glad you shared that, as I also haven't heard of anyone else on the keto diet this long either! It definitely helps! And you're exactly right when you say daily challenges and joy. It's so comforting to know I'm not alone. ❤️

[@oliviarowland6495]

You’re an amazing mom! I hope you’re able to relax and take some ‘me’ days too! Kyle is blessed to have you.

[@KelliKyle]

Thank you so much! I'm better at taking time for relaxing than I used to be. :)

[@angelabeatty6538]

What a lucky boy! It is easy to see the love Kyle brings to your family💗

[@KelliKyle]

💕

[@christophercruz5891]

Sending prayers and hugs your way guys. You're awesome Kelly. I am totally blind and for the past 23 years I've been learning to adapt to life without vision

[@KelliKyle]

Oh, wow. I can't even begin to imagine what that has been like for you. It would be interesting for me to listen to my videos without watching in order to grasp what it's like for you when getting content from certain KZbin channels.

[@emt190]

All the love from another family with a son with Syngap1

[@hannataylor2254]

He is so awesome and smart

[@KelliKyle]

❤️

[@CureSYNGAP1]

Thank you for sharing Kyle's diagnosis story.

[@KelliKyle]

We're so happy to finally have a diagnosis for him! Looking forward to joining one of your SYNGAP parent meetings soon!

[@Beata-.-]

All the love from another syngap1 family. My baby is 3yo. Kyle is beautiful.

[@KelliKyle]

Thank you so much!!! ❤️

[@msexyteach]

You did an incredible job! Thank you for sharing!

[@KelliKyle]

You're welcome! ❤️

[@daviddalton2634]

Thank you - you have certainly raised my awareness of Syngap1. I had to scroll back and make sure I heard you correctly...insurance does not cover his incontinence management?? I am sorry about that. I have interacted with other families who have had success in getting briefs covered for medical reasons, so I was a little surprised about that. But you're working with a group that provides them and maybe you don't have to budget as much for it? They were not from your state, so maybe that's the diff, or perhaps brand?. Finally, I see in your postings that several others were recently diagnosed with the same syngap1 - made me curious - is this a newly found cause of this ID in the medical field, or did it just take this long to confirm through testing? I don't want to sound like I'm challenging the medical community, but it must have been frustrating for you to not have answers for so long. I'm going to read your write-up on receiving the diagnosis for a bit more perspective. My wife was a special needs teacher in elementary school, but has been retired for a few years, and I will have to ask her if she has heard of this. Also, this video answered the question I posed on another vlog regarding the type of epilepsy. My son was in boy scouts with another scout who had epilepsy, and he was always falling and getting hurt - things like bloody noses, nothing too serious, but enough to interfere with his activities in scouting. In retrospect, I now recognize that he must've had atonic seizures and they just kept saying he was accident prone. Does your son fall a lot? Or does his atonia present with his head nodding (as you alluded to it sounded like he was nodding off). My childhood absence seizures clinically presented as though I was nodding off (a subtle head-bob), and it was like seconds was snipped from my brain recording. When they escalated to status absence - those just presented as confusion and out of touch, even though I carried on with my activities. I know from personal experience that I had no short term memory during the ictal events, so the confusion was forgetting to answer a question from a teacher before I was able to answer it. Sorry for such a long post. I really am just fascinated and appreciate your raising awareness. I also really especially appreciate how you let him do things and seem so patient with him. I also like how you have time for yourself, and how you take care of yourself, etc.

[@KelliKyle]

Thank you for your interest and questions. I've been keeping a list of questions followers have asked so that I can make a Q&A video and go more in depth. To answer some of your questions briefly, though, SYNGAP1 is a disorder only discovered in 2009, so by genetics standards, it's fairly recent. There are about 850 diagnosed in the world at this time. It was frustrating in Kyle's younger years to not have an answer, but then I came to an acceptance of maybe not ever knowing. As far as the seizures, they are atonic and he has fallen, hit his head, had bloody noses from falls, etc. They do appear as if he's nodding off at times. And your last question related to incontinence...no, our particular insurance doesn't cover the products we need, so I have used grants for years so that much of it is not an out-of-pocket expense. When he turns 18, he'll quality for things that will cover these products. I'll try to do a Q&A video soon!

[@Michelle-yp3md]

AWWWW he’s SO CUTE and SWEET❤️❤️

[@KelliKyle]

Thank you! He's sweet the majority of the time! 😊❤️

[@robbieweston5439]

Wham will u be making more videos please Kelly thanks you love to all of u I’ve watched all the videos now so would love to see more ❤

[@KelliKyle]

Our next video will be out in about a week!

[@robbieweston5439]

They told my mummy I won’t walk but I do like Kyle I ware splints when younger now I walk with sticks or use my wheelchair

[@KelliKyle]

I'm glad you can walk and have other options for mobility, too!

[@Puppy_1]

Hey Kelly there’s another golf cart video up today, on ambient city, he found out that me and Kyle love him and he put another one up for you, it’s a gas powered one this time, yesterday was electric one today was a gas powered one that he found for us. I know Kyle will love it because it sounds great. Lol i’m laughing, because right when I said that my son came in here to golf cart me want golf cart, so now I’m gonna have to play that video again for him for the ninth time. He’ll my goodness. Anyway, I hope you like it because it’s got a great sound to it buddy. Give Kyle put a hugs for us and tell me love him. And that to us he’s family and he’s our little brother.

[@KelliKyle]

Thank you so much! I found that channel and checked out both videos you mentioned!

[@msworldofchaos]

What therapies have you found that help? My son is 6 and just received his diagnosis. I feel so lost and alone.

[@KelliKyle]

I understand exactly how you feel. ❤️ For us, OT, Speech, and Physical Therapies are ongoing for Kyle and have helped. Also getting him a speech device was critical in helping to reduce frustrations. Have you connected with SYNGAP Research Fund yet? Amazing community to help with questions and feeling connected to others on the same path as you.

[@jkka1477]

What about his facial features like how his head is shaped differently? No hate here

[@KelliKyle]

He had to wear a helmet from are 4 months to 9 months to help correct the shape of his head, as he had plageocephaly.

[@jkka1477]

@@KelliKyle oh I get it now

[@cowboyfinleys2757]

I use too love elevators one time I played in the elevators

[@bernardbourie7120]

Hello, how many diaper do you use for one day ?

[@KelliKyle]

4 to 5.

[@jerethgryphon4244]

How old is he. If he's not trained it's possible it's a feedback loop thing. He may physicaly not get those signals

[@KelliKyle]

That is definitely a possibility. He just turned 15.

[@user-qb4on2qm7z]

I wonder, as the advances in gene editing software continues we can look to a future where chromosomal syndromes can be edited out. It would be crazy to be born with Down shndrome then one day youre completely cured.