Відео

My 21 year old daughter has this. Its unbelieveable how this has changed her life. It's a monster

CMT1 here, is it possible to sign up Anywhere?

Really cool video! With a bit of SEO optimization, I’m sure your videos could reach even more people. Feel free to reach out if you want to chat about it sometime!"

James , how are you good sir ?..many year have passed maybe I was probably one of your first Congenital MG case’s possibly…-B.H.Burch 🙏🙏

50-80% prematurely die????

This is so real. Only our second has galactosemia but all 6 of us eat dairy free. And his younger brother is developmentally so much further ahead of him which is hard.

Can someone tell me-i had rashes all last summer. Went to dr got cream then when to skin dr got a diff cream. Ddnt seem to work. I attributed it to heat rash- driving to houston texas every other week-& being in the folds of skin, groin, breast, stomach etc. it went away over winter now. Just stumbled upon this condition this morning. Does this rash ever leave? Do i need to check into this disease?

Hello, my grandaughter was diagnosed with Grin 2B and I have a lot of questions that I would like to have an answer if possible. Can you help me?

Hi Sir. I need this Vosoritide for my son age 14year. Please how to contact you

Fellow Human with SMA Type 3 here! This is so exciting to hear especially what the higher dosage are going to do. Science!!

Hi

i would like to take part in the trial

Thanks for the detail of the emotional toll of our journey. It took 30 years to diagnose one of my conditions and 65 years to diagnose another condition. I understand. I'm now trying to get evaluated for MG. I suspect I have MG although I am 72 now. I actually already have 40 other diagnoses. A lot of them are likely connected to MG. My hands don't work on and off and my diaphragm is so weak that I feel like I can't breath after 10 minutes laying down at night. You're right that whether we are sad or happy it spikes my symptoms. Every day I wake up I never know what new symptom I will face or what old symptom has improved. I very much abhor having to find the right Neurologist. I actually went to one who forgot to meet me for my appointment! I haven't liked any of the 5 Neuros I've seen over the years and the worst are the ones who take diagnoses away. But one of the biggest problems I have is trying to navigate so many conditions at one time. I studied art not medicine! But I never quite every stop having to maintain my health. You probably feel much the same.

Sinhnaad Guggul and Gotu Kola capsules of Planet Ayurveda are very effective.

I hate it

Planet Ayurveda has very effective treatment for Scleroderma I have seen a lot of their patient's testimonials who recovered from this condition

Great to know that some treatments are being developed.

Hello. Dr sir. I am from Rawalpindi city of Pakistan. My daughter age is 4 years and she is mps-VI. Can you help me in her treatment of enzymes replacement.

Pah is what their trying to say now,for me at a clinical study place....ive been overweight and yeah im doing alot of back n forth i got a cath but a week after i had what i thought was an angina attack....im not thinking that now....but idiot me called that specialist, and brought my mother even she cant see why or what this doctor guy is all about...he didnt really answer any questions now this guy just said meds uptravi???And now ive turned it down

夫はT-LBLです。日本にいます。どうやって連絡できますか？

Thank you for this video!

Oh yeah, open mind plus scientific training equals potential vanguard results. Way to go. This is terrific. Godspeed

I’m sorry, did she say her daughter’s teeth started falling out???😅

I had a desmoid tumor in my stomach the size of a baseball. It grew into surrounding area and was not able to remove. I did three years of sorefenib (chemo in pills). The tumor also grew into my eureter and had to have my kidney removed because of it. It has been 5 years now and hasn't came back.

My 21 year old daughter had a pituitary tumor that turned out to be igg4 rd, pituitary and hypothalamus was attacked. She now has pituitary hypothyroidism, diabetes insipidus, zero sex hormones, and now also hypothalmic obesity among others. She is always starving, angry, very moody along with hot flashes etc. I'm at a loss as her mother. She is miserable and never ever satisfied. My heart breaks and I just don't know where to turn

Bu hastalığın tedavisi ilik nakli dir arkadaşlar vakit kaybetmeden iyi bir doktor bulup olun eşim bu hafta 4evre agresif mukosiz fungodes hastalığının ilik nakli olacak

I currently have a diffental diagnosis of SPS. I have been experiencing health issues since 2021. I have been out of work since November 2023 after having a small stroke. I agree with you about the doctors not listening and implying that psychotherapy is needed.

need more research on this disorder

Please do some videos DNM1 AND NSF AND AIPL1 AND NGLY1 GENE Therapys

You might just have healed me.

1:40

It's a shame that the MDA Telethon died with Jerry Lewis

I'm currently trying to get diagnosed with EDS. I'm almost 40 now, you could take the story you're telling and I'd fit it all. Everything. Started in my childhood. I had my genome done recently, I have the gene markers but have to be on a 3 yr wait list to see this Dr that can diagnose me. Between the pain in my neck and injuries to my neck, i won't be able to move by then.

45 years here. Just finally knowing has made a world of difference for me. It's like my whole life was a box of jigsaw puzzle pieces, and I'm just now seeing them all perfectly put together for the first time. Had I known this 25 years ago, I would have had a completely different life outcome. Thank you to everyone who brings awareness to this issue! 🙏🏽

Please get this drug approved for anything, so I can off label stick it in my teeth.

And it started flaring up because of a medication called in Vegas

I believe I have all the symptoms for disease syrup my childhood as far as different things reasons I should tell my doctor Methylmalonic acidemia (MMA) is a rare genetic disorder that affects the body's ability to break down certain fats and proteins. The condition typically presents with different signs and symptoms, which can vary in severity. Here are some common ones: 1. Vomiting and Feeding Problems: Frequent vomiting and difficulty feeding are common, especially in infants. 2. Muscle Weakness and Lethargy: Affected individuals might exhibit muscle weakness or appear unusually tired. 3. Failure to Thrive: Infants might grow more slowly than normal. 4. Developmental Delays: Delays in reaching developmental milestones might occur. 5. Respiratory Distress: Problems with breathing can be a symptom. 6. Metabolic Crises: Episodes characterized by hypotonia (reduced muscle tone), lethargy, and metabolic acidosis can occur. 7. Seizures: Some individuals may experience seizures. 8. Neurological Symptoms: This can include poor coordination or movement problems. 9. Anemia: Some may develop anemia due to the body's difficulty in getting enough oxygen to its tissues. 10. Recurrent Infections: Due to the impact on the immune system, there may be a tendency towards getting frequent infections. This condition requires medical diagnosis and management, typically by specialists in metabolic disorders, to help manage the symptoms and reduce the risk of complications.

Methylmalonic acidemia (MMA) is a rare genetic disorder that affects the body's ability to break down certain fats and proteins. The condition typically presents with different signs and symptoms, which can vary in severity. Here are some common ones: 1. Vomiting and Feeding Problems: Frequent vomiting and difficulty feeding are common, especially in infants. 2. Muscle Weakness and Lethargy: Affected individuals might exhibit muscle weakness or appear unusually tired. 3. Failure to Thrive: Infants might grow more slowly than normal. 4. Developmental Delays: Delays in reaching developmental milestones might occur. 5. Respiratory Distress: Problems with breathing can be a symptom. 6. Metabolic Crises: Episodes characterized by hypotonia (reduced muscle tone), lethargy, and metabolic acidosis can occur. 7. Seizures: Some individuals may experience seizures. 8. Neurological Symptoms: This can include poor coordination or movement problems. 9. Anemia: Some may develop anemia due to the body's difficulty in getting enough oxygen to its tissues. 10. Recurrent Infections: Due to the impact on the immune system, there may be a tendency towards getting frequent infections. This condition requires medical diagnosis and management, typically by specialists in metabolic disorders, to help manage the symptoms and reduce the risk of complications.

Can't hear what is being said but thank you for trying to provide information on Mycosis fungoides.

Thanks for this video! I have had narcolepsy and ADHD since I was 12. I'm 26 now and it has been hell but I'm looking forward to trying Lumyrz, stimulants only made my sleep quality worse and increased my need for naps in the day, it just doesn't work as much as it helps when it's working.

Mark, Thank you for the information and for working on Pemgarda. There are a number of compromised individuals like myself who have a week immune system not caused by disease or medicine. In my case, I have a seriously low white blood cell count. My lymphocyte counts are less than half the minimum. Consequently, the covid vaccine is less likely to mount a strong defense. Half the people who have my condition have it for no known reason. I have had this condition for at least 10 years when my doctors first did a CBC blood test. I am currently reaching out to my doctors in the NY area to get a prescription for Pemgarda but have not been successful thus far. There is a underlying resistance to writing prescriptions for IV treatments. I'm committed to getting it though. I'll keep you posted. Thank you for an intelligent, polished and thoughtful video.

Trying to advocate for my bf right now . He got possible diagnosis from neurology . Sent for blood work and then his family doctor called back and said no you don’t have it . I have done nothing but research since finding out and I turkey believe he does .

5 years down the line, gene therapy is still very costly.

1.6 mg/kg/d what does this mean? If i calculate rightly 1.6 mg per kg will be 80MG for a 52KG person? Isnt this too high?

My son was just diagnosed with SPS. He was lucky enough to live in the Chicago metropolitan area of the US. My husband and I are lucky enough we don’t live too far from them. He started having symptoms in April 2024. He’s been having major issues including affecting his breathing. He is 40 years old. His wife is wonderful. I’ve been trying to find out about the disease and treatments. His doctors are just trying to get the flares calmed down and getting a treatment plan in place. I must say hearing you talk makes me very scared. He works as an architect and project manager I. Downtown Chicago. They’ve made a medical accommodation and allowed him to work from home home for the next year and then reassess to see how it’s going.

My disease is also Fibrodysplasia ossificans progressiva😢😢. My age is 33

What a great mom

I have this. I consider it an autoimmune disorder. It’s been about 20 years since it started plus 15 years of being a childhood asthmatic. The problem is entirely caused by allergens. It’s extremely difficult or impossible to avoid allergens entirely. Besides that I’m still not totally sure of what I am or am not allergic to. Some things for sure I’m allergic to are animals with fur, marijuana, wheat food, dust, beer, nuts. Basically it causes endless burping, asthmatic symptoms, stomach contents moving upwards, chest pain, high blood pressure. The condition is potentially life threatening due to the increased pressure on the heart over long periods of time. The disease only affects me as noted. I’m otherwise healthy able and normal. I don’t know for sure but I believe the condition is a result of a childhood virus or illness.

Where is your hospotal

Hello I am ajesh a fshd patient from India. Happy to hear the development of del brax. At last l am happy to see the light in the tunnel.Next question is will it be affordable for people like me from countries like India..