Відео

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 ?

I have CAH and got diagnosed at age 4. I had just recently found out that intersex is a part of this condition. My doctors don’t tell me much but when they do it goes to my mom and even then she’s hardly educated. I’m 20 now and learning more and more of this condition I’ve had all my life. Thank you for going out of your way for such a rare condition hardly talked about. It helps educate more people who are curious- and for the people who have it; are learning more of what their mind and body is.

Your podcasts are highly informative! But please, remove the stupid song at the beginning.

Can I join like these conferences

Very interesting! My youngest was dx'd with epilepsy as an infant so I'm always looking in to new research.

I got to do it for free, as part of a Gulf War Illness research study...

That's my uncle

Thank for posting this video! I think I saw this before (as Episode 287), but I don't remember if I saw a whole video. Either way, I am glad that this is available!

I would like to see a system on the clinical side, like Ambry's "lifelong patient" idea (applied to WES), applied to whole genome screening. If we have new information on specific variants, that information gets disseminated to the providers. The problem is that the information needs to flow the other way, as new clinical phenotypes develop, that information needs to go back to the lab that is analyzing the DNA to add to the information of variants they are looking for. If this came to fruition, I would have my daughter's WGS run (she has a very rare birth defect of unknown etiology). I (personally) don't see the point in running WGS without being able to constantly have it reinterpreted with information flowing in both directions. I'd rather have a flow of information than a static picture. And, yes, we need a heck of a lot more information for those groups who are under-represented, though the control issue is massive. You could say that this static picture effect of genetic testing is really limiting our ability to serve our patients. How many patients were told 10+ years ago that since they tested negative for a BRCA1/2 gene mutation, they "don't have a hereditary breast cancer?" It is one of my biggest pet peeves with other GCs. Never say that a person absolutely does not have a hereditary condition. They are negative for things that we know and can look for today. We have no idea what we will be looking at in the next 10 years. This has been one of the biggest reasons why so many people are running around unaware of their risks, or worse, underestimating their risks: they were under the impression that their result was absolute and final. Thank you for publishing this interview. It gives me hope for how fast things will change. The interpretation tools needed are intimidating but inspiring. I look forward to being a part of the translation team to help patients interpret and process this information and what it means for them.

Why has my comment vanished? Is whoever deleted it afraid they’re going to be exposed for their desire to repeat The Eugenics Movement against those of us you view as the eugenicists said ‘social parasites’? It is unacceptable to claim individuals don’t deserve to live just because they deviate from a social norm. That’s what so-called disorders have in common, they are not statistical deviations, they’re social deviations which only proves health is now political, not scientific.

Dr Miller was my nephews neurologist years ago when he was in Miami and our family had a FANTASTIC experience! They have since moved to Washington & not getting the right treatment. I wish I knew we where Dr Miller was taking patients so we can see him for help 😢

i think i have KS along with other many problems

I have vascular and cannot find good knowledgeable health care in my community.

❤❤❤

I am so grateful for Izzy sharing her story with everyone including me, I have Classical EDS and my niece has hEDS. We both got them from our parents, and I also have POTS + CCI due to my cEDS.

Do you have information about ADOA and plus version? It also a rare disease with little information to find.

I’m happy to see this podcast. OTC is not really heard of and this runs in our family.

I was born with klynfelter syndrome

Would it be possible for I to have a discussion concerning ethics? I emailed those behind the Genome Project and Jennifer Doudna and they all failed to respond to my ethical questions, such as what are they doing following Francis Galton, Karl Pearson, and Ronald Fisher? They claim they want to stop eugenics, if so, why do they approve aborting fetuses just because they predict they will be disabled, that’s discrimination and sends an insulting, hateful message out to those alive today diagnosed with Down Syndrome. I asked why is there numerous clinical websites claiming they want to eradicate all autistic people, all ADHDers, all dyslexics, basically all disabled people. They wouldn’t answer me, so where’s their evidence they are not plotting Eugenics Movement 2? This is precisely why I don’t trust the usage of biotechnology, there’s a great lack of transparency and lots of hatred towards disabled people who don’t want to be ‘cured’. The fact ‘normal’ is an ideology proves modifying all disabled people is both discriminatory, hateful, and illegitimate science.

Thank you very much for sharing! I believe this provided an excellent sense of what it was like as a sickle cell patient as well as what the experience of the treatment! If I understand correctly, then this was also helpful to learn that the Fetal Hemoglobin (HbF, with alpha and gamma subunits) was targeted (where I believe the original mutation is in HBB coding for a subunit as part of adult hemoglobin, with alpha and beta subunits). So, I will try to learn more!

Izzy am I wrong, but it appears that you have grey eyes, apparently grey is the rarest colour in eyes, and is because of collagen!!! My eyes are grey/blue but I have heterochromatic eyes with the ring around the outer edge. Iridial ring?

I wish it was still $300 😂

This was so useful, thank you! My experience as a heterozygous female with OTCD is that adhering to treatment is particularly difficult due to the cognitive/behavioural deficits that are likely caused by this condition in the first place. Additionally, as females, a lot of us are used to being written off by health professionals when bringing up many symptoms really, but particularly more vague symptoms and definitely anything related to the menstrual cycle. As a result, many women with various diagnosed or undiagnosed conditions just ascribe signs and symptoms to “being a woman” or “life”. I will be taking steps for myself as well as “asymptomatic” family members after watching this, thank you again!