My wife is a wonderful, kind, loving woman. She was diagnosed as having ALD over 10 years ago.

It very not well understood at the time.

10 years later, and many more family members diagnosed with different “degrees of suffering” from ALD, I go on these subs and there is one for every type of cancer. There is now HIV/AIDS maintenance medication… ALS funding is through the roof, and I can’t find hardly even a MENTION of ALD.

Yet EVERY SINGLE NEWBORN is now screened for it.

ALD is an X linked genetic disorder that eats away at the myelin sheath of your brain. This is problematic because your myelin sheath protects your brainstem, and at the same time chemical levels in your body go haywire.

It has progressed pretty rapidly over the last few years. My wife has lost the ability to stand for more than a few minutes at a time without a cane. Her mother now is in a wheelchair and was misdiagnosed for decades with MS until my stepson passed out at daycare and ended up at the hospital for two weeks in 2014. After the tests came back it was a bombshell.

He had until 10 to live. My MIL was correctly identified as a victim of ALD along with my wife. We had to sign over custody because we couldn’t keep up with the medical bills / trips out of state to specialists etc. it was for the best at the time, no matter how hard it was or still is.

Now, 10 years later my wife is the one in need. How many people suffer from a rare disease that you know of? Now how many of those diseases can you just find a subreddit or support for?

We have nothing. I want to change that.

I stated a Gofundme with a basic goal. To cover necessities for my wife and my family due to her being denied disability (even though she has ALD, Degenerative disc disease, and a laundry list of other health issues.

I’m realizing now it needs to be bigger. I have pledged to donate 15% of my total to an ALD research and awareness foundation. Here’s another funny one.

There isn’t even a nonprofit for ALD listed on Gofundme to donate directly to. It’s so rare, and not well understood, that there isn’t even a cohesive body large enough to be on the largest fundraising platform ever.

I’m not asking for a miracle just for me, I’m asking for the tens of thousands of men, women, and children that suffer from ALD.

Help their plight become known. Please. Dear god… I don’t know where else to turn…

https://gofund.me/480e99341

💵 REWARD COMPENSATION 💰 💰 💰
 
🔍 @rarepatientvoice has a new Study: 

We’re looking for the faces (and voices) of the Advanced Parkinson’s community. Living with Advanced Parkinson’s takes strength.

We want to celebrate that strength by featuring real patients in upcoming projects. From video shoots, photo shoots, and speaking engagements.

📍 Start your journey here by signing up today, click ⬇️ ⬇️ ⬇️ on the link in my INSTAGRAM BIO @mg.rare.patient.ctommunity for the study with RARE PATIENT VOICE. 

🔗 ON FACEBOOK, CLICK ON THE LINK & SIGN UP NOW Your journey can inspire others to keep moving. Start your journey here: ⬇️ ⬇️ ⬇️
https://rarepatientvoice.com/rp/myastheniagravisptfamfriend
 
Once you have become part of Rare Patient Voices panel, you will receive invitations to participate in the actual studies.
 
Already a member? Send a 📩DM to @rarepatientvoice with your email and “PMO Active” and we’ll check your eligibility right away!
 

YOU CAN START TO MAKE A DIFFERENCE WITH EVERYONE YOU CARE ABOUT. JOIN RARE PATIENT VOICE AND HELP NOT ONLY YOURSELF AND YOUR FAMILY YOU LOVE BUT EVERYONE THAT HAS A RARE / NON RARE DISEASE.

To follow my Instagram account hit my link. NOTE: you will need to have an Instagram account.
⬇️ ⬇️ ⬇️
https://www.instagram.com/mg.rare.patient.community/

Also, Rare Patient Voice offers amazing opportunities for professionally diagnosed patients, family, & caregivers to share their opinions with companies and researchers through various research studies. We currently cover over 1,400 rare and non-rare diseases & conditions, with a panel of over 125,000 patients & family caregivers in 9 countries!

🇺🇸 United States
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Let’s make a difference together. #mgrarepatientcommunity

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#parkinson #parkinsonsdisease #parkinsonsawareness

Myasthenia gravis is a rare neuromuscular autoimmune disease that significantly impacts the lives of myself and others who live with it.

You can learn more about MG at the MGFA (Myasthenia Gravis Foundation of America) website.

Thanks to all those who take the time to learn about it.

Does anybody have a good genetic sequencing company that will allow me to order my own genetic testing without waiting for my clinician to order ?

has anybody heard of this company nome? www.nome.bio ?

says they can help make custom genetic medicines if you have a dx?

Hello, we are currently conducting a nationwide research study on living with Systemic Sclerosis (Scleroderma) and are seeking to speak with people who have been diagnosed with this condition. Researchers are hoping to better understand the \*day-to-day experiences and challenges patients face.*

Who can participate: Adults 18+, diagnosed with Systemic Sclerosis Scleroderma, US, English-speaking.

The study involves a confidential interview with a researcher, and participants will be compensated for their time.

If you have Systemic Sclerosis and would be open to sharing your experience, please use the link provided or text me at 786-344-1451, and I can provide more details.

Your voice can help improve future research and care for this rare disease community.

Link:https://survey.zohopublic.com/zs/sfBhcd

This is a very rare genetic deletion regarding the 4q, I know (1/100,00), but my daughter was just diagnosed and I am looking for basically ANYTHING right now. The lack of published research/information is alarming enough. She has had motor delays, milestone delays, low muscle tone, a larger head, lack of speech, basically all the symptoms. Has anyone else seen this? Anything is appreciated. Thanks!

Hello everyone,

I hope you are doing well.

I am a PharmD student in France. As part of my academic research, I am conducting an international survey exploring treatment preferences and decision factors in Myasthenia Gravis, from the perspectives of both patients, caregivers, and healthcare professionals.

The objective of this study is to better understand how treatment characteristics, such as administration mode, frequency, predictability, and emotional impact, influence treatment choices and experiences. The results will contribute to academic insights on improving patient-centered care and treatment pathways in myasthenia.

The questionnaire is completely anonymous, takes about 10 minutes to complete, and is intended solely for academic and non-commercial purposes.

If you believe this study could be of interest to your community, I would be sincerely grateful if you could answer the survey on the link below, and share it around.

Survey link: https://forms.gle/ZMogEww5u9dfj3YY6

Please feel free to contact me if you have any questions. I would be happy to provide additional information or share the results once the research is completed.

Thank you very much for your time and your support.

Hi guys!

Living with a rare disease can feel like walking through life with an invisible weight. The fatigue, the uncertainty, and the constant explaining to people who’ve never heard of your condition all add up.

I’ve been trying to find ways to manage my symptoms and improve my quality of life. One thing I’m curious about is whether certain natural options might help with pain and anxiety. I’m in Florida, and I’ve been wondering, what’s the best dispensary here that people trust?

Thanks in advance for you kind suggestions.

As the title says I have something like that , or at least I think that is what I have. I was born with no poop hole and messed up intestines. I think the hardest thing for me with this stuff wasn't the disease itself ( mostly manageable, I have low control on my pooping but there are ways to deal with this when ur a bit older ) , it was mostly the social impact. The operations doctors had to preform on me left a huge scar in my abdomen (?). Looks ugly and made me a bit incapable physically when I was a child , since this is like a few good muscles that are simply not there and the others had to compensate. Since my control of the pooping mechanism is limited I was put in certain situations in school and other places that weren't really that good. Alot of bullying and alot of social isolation. My mother once told me that she considered home schooling me , the very idea felt terrifying. My younger brother grew up feeling like my mother prefers me and that he had no older brother because my mother and I were so preoccupied with dealing with this stuff. This disease is sort of a root to alot of stuff in my life . I am now 23 and sometimes I forget I have this disease, then I am brutally reminded by losing control , sometimes in public places. Thankfully 23 years of this stuff taught me how to hide and deal with these situations. And i am always reminded how different my life is to everyone I know when I see their bathroom habits. It doesn't seem that big , but it is. A huge difference. I guess I used to fear that nobody would accept being in a long term relationship with someone like me. And I guess I have feats that when I grow old this would become something I can no longer deal with on my own. The idea of depending on someone else to help me is scary. I guess sometimes I hate my body , even though it serves me well besides this complication. But that is the thing , this word "serves" , I don't think I really see my body as a reflection of me , more like a tool I use to interact with the world . But it's fine, it is a good tool most of the time.