9 ай бұрын
6 жыл бұрын
6 жыл бұрын
6 жыл бұрын
6 жыл бұрын
6 жыл бұрын
6 жыл бұрын
6 жыл бұрын
6 жыл бұрын
6 жыл бұрын
6 жыл бұрын
Пікірлер
@marionym5969 Ай бұрын
If you are a carrier what is recommended? Not have children? Go for ivf? I am confused.
@theryr-1foundation458 29 күн бұрын
@marionym5969 Please contact Lindsay Goldberg, Executive Director & Patient Liaison, at [email protected]
@hannahosullivan9274 Ай бұрын
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.
@hannahosullivan9274 Ай бұрын
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.
@hannahosullivan9274 Ай бұрын
Hi thanks for sharing this. I live in Ireland and I don't know anyone else with an RYR1 related myopathy 😊
@PaulaMaeBarshaw 2 ай бұрын
We are just learning about this and our grandson's genetics.
@urosgorjan9527 5 ай бұрын
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
@lusianabregasi2048 6 ай бұрын
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
@anitramai 9 ай бұрын
I'm in Europe so huge thanks for recording this!
@kathleenkleinmann1652 9 ай бұрын
Great news! Thank you Dr Goldberg for this exciting webinar. And, thank you for your leadership on the science and peer support.
@tr1707 10 ай бұрын
Amazing information ℹ️ Thanks for posting!
@marmeko Жыл бұрын
Thank you! I'm not alone
@busraa.1538 5 ай бұрын
Sizde mi ryr1 gen hastasısınız ?
@kellybliss Жыл бұрын
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.
@tr1707 2 жыл бұрын
This is exciting news at the end. Let's go team ☺️ 🙏🏿
@jnanashakti6036 2 жыл бұрын
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...
@aliciafiligrana8898 2 жыл бұрын
Hi! Could you include captions in Spanish so we can share this video with our families please?
@lucieniapacite966 2 жыл бұрын
Tradução ou legenda em português!!!!
@carolynlong9148 2 жыл бұрын
I have been diagnosed with muscular myopathy. If effects my muscles and my eyes.
@nobody__cares 2 жыл бұрын
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.
@taraksherkhane1234 2 жыл бұрын
My affected RyR1 CCD can share treatment
@trickytratz 2 жыл бұрын
11:11
@claudinei5924 3 жыл бұрын
Meu médico descobriu que eu tenho essa doença só que eu não tendo entendimento da gravidade que ela pode causar
@pavalachialexandru 3 жыл бұрын
Gdbd dh$; hdgs
@KyriaLovesApologetics 3 жыл бұрын
Jim is my son's doctor and he is AMAZING
@NAKMUAYACADEMY 4 ай бұрын
I'm very curious when comes to ryr1 myopathy what diet ,how much protein and calories do doctors recommend for people who lift weights ?
@kellystrijdhoven1668 3 жыл бұрын
My baby is 5 months old has this and we to nu husband and me
@Slowmotion-qd9qb 3 жыл бұрын
My daughter she got it she is 2 and half years old it's really tough situations God bless us all
@wsa405 3 жыл бұрын
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?
@nicolebecher6645 3 жыл бұрын
Shane - Thanks for your comment. I am sorry to hear about your son’s recent diagnosis. To learn more about RYR-1-related diseases (RYR-1-RD), please visit: www.ryr1.org/ccg. Chapter 1, “The Genetics of RYR-1-RD” discusses central core disease and centronuculear myopathy in greater detail. Chapter 3 discusses the role of calcium and the ryanodine receptor in RYR-1-RD. I hope this all helps!
@raymondybarra672 3 жыл бұрын
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.
@mayrarcn 4 жыл бұрын
Am just here poring tears in every single second of the video !
@mattheww2955 4 жыл бұрын
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?
@samuelcolt2600 5 жыл бұрын
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.
@Daariencollingridge 3 жыл бұрын
Did ryr1 get worse as you got older
@samuelcolt2600 3 жыл бұрын
@@Daariencollingridge very much so, im now 27 and walking with a cane most days, i am also the 5th generation in my family to have it, at this point i am looking for any experimental treatments available. ive lost so many talents that were leading me in a great direction because of this disease.
@Daariencollingridge 3 жыл бұрын
At first I was diagnosed with congenital muscular dystrophy then year's later they found that they Misdiagnosed me, then they diagnosed me with RYR1 myopothoy. Can it be caused by scoliosis. Also I hope you can get the help you need ☺
@Daariencollingridge 3 жыл бұрын
Did the RYR1 disease get worse overtime or was is as bad when you were younger.
@samuelcolt2600 3 жыл бұрын
@@Daariencollingridge I can’t say wether or not about the scoliosis thing. I had a genetic test done to make sure it was a gene mutation. Unfortunately it was, I am unsure how I knew but I knew at a very young age and it didn’t really hit me until I was about 23 or so, essentially it just got progressively worse over time and it’s on a rapid road as it is right now. I’m getting help but there is just not much help for it other than a pain regiment and injections for my back, other than that I’m pretty alone with it all. But thank you I hope you get the help you need as well.
@leslietojes5620 5 жыл бұрын
Por favor en espanol
@yaninalamas7951 6 жыл бұрын
hola podrias pone los subtitulos en español por favor..!