The National Organization for Rare Disorders® (NORD®) is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of the 7,000 rare diseases that affect 30 million Americans, or 1 in every 10 people.
NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 35 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research, and providing patient and family services for those who need them most.
This is an important topic for patients with Kallmann syndrome like myself. It is not an easy topic to discuss in an open forum like this. It is often discussed at patient meetings or on line discussions in patient forums. I think most patients benefit from being able to talk to fellow patients who might be best placed to offer advice and support. In Kallmann syndrome you have the twin problems of abnormal puberty and infertility, both of which are not easy topics to bring up in any discussion.
Thanks to all the doners that give to Rare disease research Thanks to all the scientists doctors and companies that produce the medications . You all have made a difference in my granddaughters life .Love you Abigail Grandpa
Wrong in every way. I don't agree with this at all. Especially if you know full well there's a bad genes in the family but you decided to have children anyway. It's like ppl complaining about women shouldn't have kids at a certain age because there's more chance of a birth defect, but they go and do it anyways. Love what you have, be greatful, and stop this n*zi experimental muck.
I PRAY THAT ALL DOES WELL WITH GODS BLESSINGS.VERY SAD TO SEE CHILDREN WITH MEDICAL PROBLEMS.MAY GOD BLESS YOU MOM TO BE STRONG. I CAN SE THAT YOU ARE A GREAT AND LOVING MOM.
Biologics. Not a cure for any diseases, but do keep the disease at bay. It's there but isn't growing or spreading. As long as you take tge injections or tablets probably injections,you can make it Hopefully. I have a rare cancer, Leiomyosarcoma. It's bad. Just keeps coming back from what i have read on it. I will see an oncologist next week. First thing i want to know is there a biologic for this cancer. I want it. Might even save me from loosing my foot. Biologics block pathways. If none are available, i will live what days i have left as best i can. Not going thru radiation loosing a foot then trying to heal from that. Then chemo after surgery. Only to go back in six months fir scans and find i have tumors everywhere. I've done my research. Not one has made it. So why put yourself thru all that. Best enjoy best you can at home, in your flower beds, an with family. Not layed up in a bed,can't walk cause you have no foot, people having to wait on you until you can do for yourself. Plus after surgery here cones the chemo. You know you're gonna feel like crap. If you're young, yes at least try. Last person i researched with what i have was a Dr.Forty in age married two young children. His story starts out exactly as mine. A small swelling in ankle, no pain. Butbas time went on an it grew you could see more what we called fliud. But after seeing Orthopedic Dr, MRI then another MRI with contrast, you know something is up. Especially wgen when the biopsy is done. A big shock. Who would have thought? Especially when even him being a Dr had never heard of it. Yes it's rare very rare. But tge number of cases are rising at alarming rates. Sadly i searched for him,his story was after the removal of his foot an all he was feeling optimistic. Until he went for six month scan. His lungs were full of tumors. He was actually doing a video like this one talking about a drug. A new one. I searched fir him on FB cause everyone has a FB page. I found it butbitvwas his wife and she had a photo of them bothbas her profile picture. I didn't have to scroll down far, he had passed. She wrote we just spent our last fathers day together. That was June 2022. His journet had started sometime in 2020. He spent a lit of his last days very sick. What can i say? I can't judge. I was so hoping to learn he was ok. But no, an i was sad. Not for myself but his friends and family. A Dr that could have helped many. Ok then there's me. I'm older a senior citizen. I get around great, garden love growing flowers and vegetables.Cook clean go shopping. Spend events with kids and the grandkids. Retired of course. My husband is still with me lot of health issues. I am his primary care taker. He can stillnwalj but not a great distance. I guess you could say I assist him in everyday living. Well i have a big decision to make next week. I will see the oncologist, if there's nothing new with really good results, that's it. No more traveling over 200 milesba day for nothing accomplished in the end. I will talk to my primary care giver about hospice. When pain comes the nurse can deliver, i will keep going until i can't. Then we all know how hospice works in the last days. My mind is set. I choose life, but quality over quantity. ❤
Hi from the Rare Bone Disease Foundation in South Africa, where we have been doing research into a rare bone disease condition, Sclerosteosis, since 2016. Much love & support to your organization.
I am 77 years old and recognized first symptoms at 32. Desease progressed slowly, first plasma pheresis patient in Canada for first diagnosis of polymiositis. LGMD confirmed at 57 years of age. Now in a wheelchair but can still stand and transfer. I live in Quebec, Canada.
I have rare Cancers and it's hereditary and the one that doesn't have the genetic mutation has a lot of the rare cancers I had nine Specialists and now I'm ready for all my checkups but I had the switch in insurances and one of my last things was a hysterectomy and then covid so I still have stuff going on that I can't get anyone to look at and they all want to start at the beginning at like ABC instead of being being in that one to 2% or less of having the rare so you can't just do it through diet or something what would be a good way to ask a doctor to look into it that way or find a doctor to look at me so I don't die of skin cancer after I had 14 surgeries for the other ones my younger sister which is 12 1/2 years younger than me just went in with it it's in about a four to five but they started with chemo and and my dad just went in last night so we almost have all the generations in for the colorectal we have a check to mutation but we have a lot of cancer in the other side too so I appreciate your guys's information very much I would like someone like you or Dave's or whoever knows as much as you do about looking at what I have because I've had it for a long time too like I think I actually had maybe juvenile because some of my symptoms come up like you usually only found in kids or dog symptoms come up but we grew all our food made everything from scratch Aid organic and I always played Sports that gets you about 32 and then after that the food's not going to help everywhere I had trauma where it falls is where I am and now I'm bone on bone and all my joints and it's hard for my body to go it's shutting down like my so I would like to be checked cuz all my checks are ready like I'm supposed to get colonoscopy and everything so is there a way to go to a teaching hospital for you know like down in Oakland for children's center or UCSF or something that?
I have B- blood type and think it had something to do with a rare lung cancer tumor I was born with. I’ve never received clear answers or an understanding/translation of pathology report. All the doctors would say was “The Universe opened up and I was that one in a billion”
My brother has this very severely and he had to stay in the hospital for the first year of his life and at the time I was 5 years old and all of that along with my dad being an asshole has really messed up my mental health im now 12 and finaly seeing a psychologist
I have EDS and I’m also Epileptic and I have dislocated my right shoulder so many times that it’s pathetic all just from cleaning a table at a Bowling alley. I have subluxation my right wrist from shampooing my hair in the shower 🚿. My Neurologist said that he thinks I have a Autonomic Nervous System Disorder which explains why I have been having my heart rate elevated, feeling lightheaded and nearly blacking out ( luckily my housekeepers cart was nearby the first time it happened and the other time it happened luckily the circuit breaker box was close to catch me. The third time I was at my second job and I was nearby the trash can that I roll around to collect the garbage in and haul it out to the trash bin outside. I’m a housekeeper.
I my self have a undiagnosed condition it's an undiagnosed Neurological condition I hate not having answers as to what is slowly chipping me away Im sad she never got an answer no body deserves to not have a answer then die not knowing that is scary to your whole life not know rip lovely lady u are missed by so many ❤
I have over ten rare diseases officially diagnosed. My body seems to collect them and rejects treatment. I need to be studied. And I have studied and have ideas if someone would listen.
I’ve been undiagnosed for 14 months, with 7 main symptoms: -Sound Sensitivity -Light Sensitivity -Tinnitus -Headaches -Balance Problems -Tics -Hand Tremor I’ve seen six doctors, and have gotten 4 incorrect diagnoses so far.
Sarah I dint even know what hapoened to me after covid it's like my stomach went upward stiffens abd I have no signals to be hungry to feel dull to be able to know if I burned my calories...colon moves weirdly. Any insight
Hi Taylor! Great video really informative. I have a rare genetic disease which affects my liver and metabolism. It's called Tyrosinemia Type 2. Watching from the UK 🇬🇧
