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My husband had CMS and his brother. My husband started having problems at 18years old his dr treated him with prednisone what got him in remission and he would come in and out of remission at times sometimes going on very hight dose of prednisone. And prednisone no longer kept him under control at about 45 years old. He started on imuran. He could live a good life for a CMS he. Died at 68years of age Covid. He had 2 dot 7. So you are wrong. About the treatment. Because this treatment works for his brother also. Who is still alive. They were diagnosed at Bethesda, Maryland at the national Institute of health .

My son is 32 and not diagnosed until 7. We studied it alot as he grew and knew it was recessive so knew he would pass a copy but considered it is 'rare' didn't have his gf checked when they decided to have a child. Lo and behold their sweet son was born and has it. Immediately they did genetic testing on all 3 and she is a carrier. So thankful the doctors Immediately started the baby on medicine. He will have such a different life than my son. But thankful his dad can help him maneuver through this and life. Science is amazing.

My daughter is 22 and just going through the diagnosis process now. I'm so glad I found your channel!

COVID-19 mRNA Vaccines: Lessons Learned from the Registrational Trials and Global Vaccination Campaign

I am surprised to see no comments at all on this video.

My beautiful five year old daughter got her diagnosis at age 1.5. Luckily the RAPSN mutation is managed with daily medication which really works well. She has variability but her resilience and amazing brain and personality is what stands out. And just keeping her safe and supported while she learns how to treat her muscles and pace her activities such as eating, which takes a lot of energy from repetitively using the same muscles. Thanks for choosing this rare disease🤗

cant hear it! : (

Thank you. Glad I come through this video that breaks down the new policy and compare with the old ones.

Hope to see my retired air force father doing this for my two children

Also for your daughter, maybe a Neuralink implant for sight might be a consideration in the future?

Met a patient with this today. This is a very complex disorder indeed. Thanks so much. 🙏🙏🙏

I also want to be reunited with my US Navy veteran father.

My family was scammed by an American law firm and we ended spending a hefty amount of money only to be ignored by the lawyer midway thru the process coz they couldn't actually help us.

My Dad, a military veteran, and I did our DNA in the US. I was born in 1965 and was not legitimated. Can you help us so we be together as a family?

I did a genetic pregnancy scan on my 18th week and found out that my son is gonna be around 5'5" and now I'm considering terminating my pregnancy. Does anyone have any advice? 🥺🙏

I love you always Dad

this is very interesting. schizophrenia is so awful. much learned from this family’s tragedy

Great podcast! I love how you break things down so clearly. Keep it up!

I've never been tested for CAH, but I suspect I have it bc of my symptoms. I'm not visibly intersex though, but I have hirsutism and was diagnosed with PCOS as a teenager. I find it interesting I share many attributes with the guest, like I was always extremely tomboyish, at 5 I attempted to pee standing up and was extremely disappointed that I just made a mess, and I'm asexual. Also I'm transgender. I was never treated with any hormones or steroids, except for a couple months as a teen when I was given birth control pills to make my periods regular. They gave me painful cramps (and regular periods) so I asked the doctor to stop. I'm interested in the relationship between PCOS, CAH, androgens, and their effects on genetic females. I had a blood panel last year, and iirc my testosterone level was more than twice the average female's. It was noted as being abnormally high, and I'm 35 now. I wasn't even surprised, seeing as I can grow a decent mustache and goatee, and have never sustained a normal menstrual cycle. I've also always been naturally stronger than other girls until about highschool, where I encountered trained athletes.

Was a great primer, look forward to listening to your future podcasts. 👍

I have a lot of medical issues, i have a lot of 97%-100% pre dispositioned scores from Nebula, I've had many many doctors blow me off and say my issues are "sematic", who could I go see to discuss my genetics to prove to doctors that there actually might be somwthing wrong?!? Help from anyone would be great!

Thank you Victoria, being the first and taking that treatment was so brave and a great service to humanity. You’re amazing and you’ve gone through so much.

I also have CMS for over 20 yrs now. Im 43 now. This disease is terrible. Alot of weakness specially with my arms lifting them over my head. I really hope they come out with something new really fast i been waiting for a long time

Ohhhhhhhh my goshhhhhh! I'm so grateful to come across this because now I'm getting tested along with my son and daughter who are both hypermobile. We just found out this year and I suspected my scoliosis + fusion had more to it.. my research lead me to learn more and never heard of EDS before 2024 and it's all starting to make sense for me. Please can we speak? Where can I get tested in Chicago Illinois?

Good episode! (From a genetic nerd)

Oh My goodness! This is so horrible a disease what happens. The loneliness and isolation and PAIN I can’t even imagine what the pain is like . When she said the circulating pain through your body.. yes you are right about the first the nightmare our fellow black Americans live through every single day unending 😔 you are a “she-ro” Bless and keep you in the Love of Our Lord ❤ God forgive all of us that have treated patients Hgbss unfair .

So is there a drug that prevents or slows down dementia?

First time watching this channel. Thank you for sharing this important story about this amazing family. Kira, I wish you didn’t interrupt Lindsay Mary. Let her speak. Please. Lindsay Mary you are a person who so lovingly cares for your siblings. You are amazing. Thank you for sharing your life story. 🌟🌸

Thank you so much for this! As an aspiring genetic counselor hoping to apply for grad school, it is so nice to be able to show this to those who don’t quite understand it!

Thanks for this. Im trying to inform myself before potentially doing a test

Problem is 12 children! They were overwhelmed on a good day! Both parents in denial for a long time. Older sick siblings watching over the younger ones is one of the problems. Too many children! Just because you’re Catholic and Irish doesn’t mean you should breed like rabbits

So happy you get to meet the amazing Dr. Francis Collins, Kira! Thats so cool 🥹 wish I get to meet him, too

I have CMS (diagnosed when I was a baby) and it is so tough to live with it for me. I hope they can find a true treatment soon.

The verdict is worldwide. He is not allowed to donate to new parents globally

OMG, for the first time I feel like I can get good information into the how and why we need to arrange for my daughter's life after me. There needs to be A Place for my daughter to be treated compassionately - least intrusive atmosphere. We aren't millionaires.

I grew up with Schizophrenic Brothers. It is very unfair for Mary to expect the well siblings to take care of her brothers. They too are traumatized. Every time they see them they are traumatized. What they did to their son was awful. Mary is a good person but in her own way wrong.

I was diagnosed with Wilson’s disease just a few months ago. I have two genetic markers. My mother and sister are carriers. I’m 46 years old. I’ve been having severe dystonia and non epileptic seizures since 2019. It wasn’t until this past July that I was diagnosed. They have me only taking zinc because I have more neurological symptoms. I’ve had a neurologist tell me that Wilson’s isn’t linked to non epileptic seizures. I would absolutely love to talk to you more about this… Can I please send over my email?

Such enormous unrelenting grief, sadness, loss, chaos, confusion and heartbreak this family have endured. The mother must have been heroic and extremely resilient. My heartfelt love goes to all this family. Lindsay Mary Rauch is an angel. Dirty priest molesting the boys and using his friendship with the mother to access her kids. OMG.

Thank you! This was so informative. Please post the link for the Compassion Bill on the NIH website. I can do this myself, and I can encourage friends to do it!

Two of my brothers had schizophrenia. They were diagnosed after returning from the Vietnam war. We were catholic as well and mom sent some of us to catholic school. We weren’t fanatics although my mom’s family were a bit extreme compared to us. They always had good humor which made it tolerable. My brothers were both treated by the veterans hospital. They were in and out of the hospital all of their adult lives and died in their forties for one and the other in his fifties. It seemed to basically ruin my family even though we tried our best not to let it. It was just too much and went on too long

My mother was type 1 bi-polar with 5 children born close in age. My younger sister was diagnosed with schizophrenia at the age of 19. I was diagnosed at an older age of type 2 bi-polar. Our family life was chaotic and horrific. We're now all in our 60's, our mother has passed and my older normal sister and I supervise the schizophrenic sister. On the spectrum my ill sister is mostly able to exist as a disabled person. Seeing my mother put in a straight jacket multiple times growing up, when my illness developed I made certain I went to a psychiatrist and kept strictly compliant with my medication because I was terrified I would become like my mother, delusional, hallucinating, hearing voices. I was married, had a son to raise, a job to keep. To this day I regularly see my psychiatrist and keep on my meds. I was lucky enough to recognize that I had a mental condition. The lack of available government treatment for those like my sister who do not recognize her illness is disastrous. I don't know what will happen to her when Im no longer on this earth to oversee her.

I just watched this HBO documentary. This is terrible and very saddening. ALL of the children growing up in this family had to have terrible experiences and traumatic memories. I think it is admirable of this sister keeps a check of her sick brothers. If the other children choose not to, I think that is their choice.not this sister.

*Thank you* Mary for this brilliant interview. I now plan to read the book about her family’s huge contribution to schizophrenic research. Well done both of you for creating such an educational video, *BRAVO 👏 👏* I believe Mary is referencing *Henrietta Lacks* and her “immortal” cells (HeLa Cells) used in every aspect of research since the 50’s or so. Henrietta never gave consent (nor was she ever asked). She died either before or shortly after her cells were “discovered” and were then used for decades without her family knowing about her *massive* contributions to many medical breakthroughs. Her HeLa Cells have collectively saved many, many millions of lives through the research her cells enabled. *Thank you* to every family who enables these kinds of research projects to further treatments (and cures) for so many different illnesses.

Thank you for posting. I mentioned an earlier episode of _DNA Today_ in an _edX MITx_ course and I was going to add a link to this video (along with the other podcast). However, I think there is only a *partial* upload that ends at 24:02 (instead of being closer to 40 minutes)?

Hi I just learned that I have WE since ladtsprng I am 54 yrs old and I want to learn more about it.

How did your Mom have the gene yet not develope schizophrenia living with so much stress?

My mother had schizophrenia and I’m the youngest of three siblings. This is the first time I’ve heard someone so succinctly describe the experience, “ what is real and what’s not? “ I grew up terrified that my mother would kill me bc she focused on me when she was psychotic and once came at me with her hands to strangle me. She would wake me up in the middle of the night screaming that there were spiders in my brothers bed and burglars at my bedroom window. My father would come get her and I’d be left alone- not being able to sleep and the only explanation was that “ your mother is sick”. We were left alone with her a lot because my father had to work and there was no help for family members then- I developed anxiety and depression and after she tried to kill herself I coped with alcohol. The good news is that I’ve been in AA for 35 years and in recovery I was able to heal and live a happy life. I still have survivors guilt for having a happy life when my mothers was horrific. So I press forward towards the goal of self actualizing and helping the mentally ill and there families however I can. Thank you from the bottom of my heart 💜

Cannabis and Facio Scapulo Humeral Muscular Dystrophy, Minnesota. We do NOT need BiopHARMa!!!!!! I am sooo sick of being lied to, manipulated, and fear mongered by these companies that try to make us think they're the only ones that can help us treat FSHD effectively. It's simply NOT true at all!! I have restored my lost movement, strength, and muscle with medical cannabis, and a multi-disciplinary approach. It took years, but it's better than being poisoned by some MRNA nanoparticle poison that is going to alter my genetic code, and make me suffer all sorts of toxic side effects, and go through needless invasive procedures. NO THANKS!!!!!

It's fun to hear some of the background about the Middle. My favorite scenes of Brick are at the beginning and the end: him licking the waffle 😂 and him dancing in the "Bago. I loved how Axl thought he was lame, but his friends actually loved his "vibe." It was Axl realizing that even though his brother wasn't his type of cool, he had his own type of coolness.

I have a neurodegenerative disease which is called Hsp spg4 which is located on the Chromosome 2 axon Arg460Cys. I know that fat soluble vitamins such D/E/K2 and manganese/tyrosine/magnesium are usually analyzed. By carrying this autosomal mutation, I do also have these Arginine/Cysteine/Ornithine/Methionine/Homocysteine toxcicity ?