United Mitochondrial Disease Foundation

According to the National Institutes of Health, ��of the 7,000 identified rare and neglected diseases for which we know the molecular cause, only about 500 have approved treatments.�� On #RareDiseaseDay2025 and every day, like Megan, we hope for treatments and cures for #mitochondrialdisease. Like, comment, and repost on #RDD. Share your #rare #mito story. Tag us @umdf #mymitostory

Diego��s worst symptom -- living with #TK2d, a rare #mitochondrialdisease -- is daily constant muscle pain. Since there are so many types of #mito, symptoms may look different from patient to patient. What��s your worst symptom? Share your #rare #mito story. Tag us @umdf #mymitostory #RDD

Life with #mitochondrialdisease or #rare disease is life-changing. What changes have you had to make because of #mito? Sarah shares that she must always be aware of her limits. On #RDD, share your #rare #mito story. Tag us @umdf #mymitostory

?? ?? ?? and a thank you on #rarediseaseday2025 and every day to all the #mitoresearchers who choose #mitochondrialdisease and the #mito patient community.

?? Rare Diseases Day 2025 ?? Interview with Dr. Rita Rinaldi Approximately 300 million people worldwide are living with a rare disease, with over 6,000 identified conditions, the majority of which affect the central nervous system. Cochrane MS and Rare Diseases of the CNS supports research initiatives aimed at enhancing the understanding and management of these conditions. One such initiative is Project COLT-MNGIE, promoted by Mitocon - Insieme per lo Studio e la Cura delle Malattie Mitocondriali ODV �C the Italian advocacy group for mitochondrial diseases. This project aims to develop a Core Outcome Set (COS) to establish a standardized framework for evaluating the efficacy and safety of liver transplantation and other enzyme-replacement treatments for Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE). ?? To shed light on this ultra-rare disease and the COLT-MNGIE project, we spoke with Dr. Rita Rinaldi, neurologist at the IRCCS Istituto delle Scienze Neurologiche di Bologna. ?? Check out the interview: https://lnkd.in/dD5mDRgt #rarediseasesday2025 #rds #MNGIE Rare Disease Day RARE Revolution Magazine RARE DISEASES INTERNATIONAL MNGIE India United Mitochondrial Disease Foundation

RARE DISEASE DAY �C DEFYING GRAVITY, FOR ZIYA Today is?Rare Disease Day, but for me, rare disease is not just a day. It��s not just a hashtag or an awareness campaign. It��s my life. It��s my story. It��s my why. My daughter,?Ziya, was rare. She had?mitochondrial disease, a condition so complex, so poorly understood, that even the best in the medical field struggled to give us answers. I remember the helplessness��the long nights desperately searching for information, the fear of what I didn��t know, the realization that even the most brilliant doctors?couldn��t save her. And that��s why I am here. That��s why I chose to study medicine. Because no parent should feel as lost as I did. No family should have to fight to be heard. No one should have to beg for the?bare minimum��answers, time, compassion. I didn��t set out to be a doctor. I didn��t think I could. I thought my world ended the day I lost Ziya. But somehow, she became the reason I kept going. ??She made me defy gravity.?? Every ��too old.�� Every ��why now?�� Every expectation of what my life should have been. She made me walk this path, not just to treat, but to listen. Not just to diagnose, but to truly see the people behind the diagnosis. Rare disease is isolating. It��s frustrating. It��s a world of ��we don��t know�� and ��there��s nothing we can do.�� But that doesn��t mean we stop trying. That doesn��t mean we stop?caring. Today, I honor my beautiful daughter Ziya. I honor every child, every adult, every family navigating the uncertainty of a rare disease. And I remind myself, on the hard days, on the exhausting days, that?this is why I��m here. Because medicine is not just about knowledge. It��s about?compassion, advocacy, and making sure no one feels invisible. So today, I ask you: ?? ?Take a moment to learn about rare diseases. ???Listen to the stories of those who live them. ???And if you are in medicine, remember that behind every rare diagnosis is a person, a family, a life that deserves to be seen. Ziya, I carry you with me. Always. #RareDiseaseDay #MitochondrialDisease #ForZiya #WhyIChoseMedicine #RareButNotAlone #DefyingGravity Mito Foundation Rare Disease Day Rare Voices Australia Perth Children's Hospital Foundation Child and Adolescent Health Service National Organization for Rare Disorders The Lily Foundation MitoWomen Network United Mitochondrial Disease Foundation Telethon7 Sadie Purser United Mitochondrial Disease Foundation London Mitochondrial Centre

My son was one of the 300 million people in the world that lived with a rare genetic mitochondrial condition. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is?a rare genetic disorder that causes stroke-like episodes, muscle weakness, and lactic acidosis.?It affects the brain, nervous system, and muscles.?Learn and support United Mitochondrial Disease Foundation. #mitochondrialdisease #RareDiseaseDay2025

On #RareDiseaseDay2025, tell us what your day is like living with #mito or caring for someone with #mitochondrialdisease? For Jeremiah, it's difficult to eat, breathe, and move. He and his mom take it one moment at a time, #thrivingwithTK2d. Share your #rare #mito story. Tag us @umdf #mymitostory

Today is the day -- #RareDiseaseDay2025! Across the world 350 million people in the #rare community come together for one massive day of awareness, advocacy, and action. For the #mito community, how do you talk about #mitochondrialdisease? Like Jeff says, it��s hard to explain! Repost and join us in spreading #mitoawareness on #RDD. Tag us @umdf #mymitostory

BREAKING NEWS! UCB today announced that their New Drug Application for doxecitine and doxribtimine for the treatment of Thymidine Kinase 2 deficiency (TK2d) has been accepted by the FDA. While no official PDUFA date was included, the announcement noted it has been granted priority review, meaning an answer could come as early as August 2025. Link to press release: https://lnkd.in/g3Yytnw2