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I know this is my third comment but this was so validating just listening to this in reflecting back on my childhood experiences I was always being told I was lazy and it makes me so sad at how I really took that on board, I was so hard on myself.

I was only recently diagnosed as an adult but I really struggled in my law school exams ... my hands tired & cramped but I didn't really know why.

Hi thanks for sharing this. I live in Ireland and I don't know anyone else with an RYR1 related myopathy 😊

We are just learning about this and our grandson's genetics.

Unfortunaly i have Ryr-1 dominant recessive myopathy and it starts with legs unable to walk and I muscle spasms throughout the entire body 24/7. In our country unfortunaly medicine not gives any medicine for that

Amazing news! Thank you everyone for your hard work in the first trial 😊 Thank you Dr Goldberg for the foundation and trying to help our family members affected by RYR1-RD

I'm in Europe so huge thanks for recording this!

Great news! Thank you Dr Goldberg for this exciting webinar. And, thank you for your leadership on the science and peer support.

Amazing information ℹ️ Thanks for posting!

Thank you! I'm not alone

Oh, doctor! What a shame! This is a magnificent presentation. However, I cannot share it because it starts with a FAT JOKE that is hurtful and damaging to the self esteem of fat people. This lower self esteem which REDUCES self-care. Since excellent self-care seems to be the primary Tx for MD, PLEASE STOP THE DAMAGING FAT JOKES. Thank you for your otherwise fabulous talk. Kelly Bliss Recently Dx w RYR1, symptoms for 20 yrs. Lifetime teacher of self-care and body appreciation for people of all sizes.

This is exciting news at the end. Let's go team ☺️ 🙏🏿

I am a dancer. I have RYR-1 and going through MS evaluation. When I dance particularly hard, I get tremors that look like Parkinson's. It calms down after a while, but I feel the muscles twitching. I'm so curious if the RYR-1 I have is the leaky one. Like, after dancing really hard my toilet is just flushing and flushing and flushing...

Hi! Could you include captions in Spanish so we can share this video with our families please?

Tradução ou legenda em português!!!!

I have been diagnosed with muscular myopathy. If effects my muscles and my eyes.

I’m 14 and watch kids my age run and jump in gym class and know I’ll never be able to do it. My knees dislocate because the surrounding muscles are so weak, and I can’t run or jump without hurting myself. I just wish I could be fast like the other kids.

My affected RyR1 CCD can share treatment

11:11

Meu médico descobriu que eu tenho essa doença só que eu não tendo entendimento da gravidade que ela pode causar

Gdbd dh$; hdgs

Jim is my son's doctor and he is AMAZING

My baby is 5 months old has this and we to nu husband and me

My daughter she got it she is 2 and half years old it's really tough situations God bless us all

How do you know what type of ryr1 problem you have? How do you know if your flapper is leaking or not opening at all or not enough flappers? My son was recently diagnosed and his biopsy shows three different types of myopathies at once. Central core, centranuclear, and something rod... So what now?

Now my wife and I know what my daughter has, at first we thought it was limb griddle, my daughter called me about an hour ago and told me what her doctor found out she is 26 years old now and we just found out what is really wrong with her, and it breaks my heart I guess I will find out more later when I get home.

Am just here poring tears in every single second of the video !

I recently read that when you’re getting the right amount of vitamin D it can increase your calcium intake up to 40%. I also read that vitamin K1 can help bring calcium to the muscles and bone. Do you think these in combination could be beneficial for people suffering from a leaky receptor?

I have CCD and this is no joke I wouldn’t wish this disease on anyone, at 26 I feel some days like I’m 260 this gene mutation is serious and very uncommon or atleast so I’m told.

Por favor en espanol

hola podrias pone los subtitulos en español por favor..!