Staying Informed on Your Rare Disease for Better Advocacy...Ever since I've been diagnosed with the first of my 3 rare diseases, Ehlers-Danlos syndrome (EDS), I've tried to stay informed. It's been important to me because, as with most...Reactions0reactionsComments1 comments
Undiagnosed all season cold sensation of body...I'm 59 and I have a condition for over last 10 years that is now immensely impacting quality of my life. I feel cold getting absorbed throughout my body except...Reactions0reactionsComments6 replies
Goosebumps with most emotions/passion, sneezing, yawning.....Since march of this year, every time I cried, goosebumps all over my left side of my body. Over the last few months it’s escalated, to goosebumps all over my...Reactions0reactionsComments5 repliesSymptoms
New here today, and looking for folks dealing with MDS....Been on different prostate cancer sites with interesting info, but can't find much on myelodysplastic syndromes (MDS) anywhere. Know there is only 10-14K cases a year. Doesn't seem like there...Reactions0reactionsComments1 replies
Who Am I? A Journey About Identity...Not long ago, I had a conversation with my daughter that caught me off guard, though not for the reasons one might expect. We sat together, enjoying a rare moment...Reactions0reactionsComments3 comments
Urgent Help Needed: Undiagnosed Condition in 8-Month-Old with Severe Symptoms...Hello everyone! I'm posting on behalf of a friend in China whose 8-month-old son has been battling severe, unexplained symptoms since he was just 2 months old. These symptoms include...Reactions0reactionsComments1 repliesSymptomsDiagnosisTips & Advice
Don't Put Things Off With Rare Disease...Don't get me wrong—I can sometimes be the queen of procrastination. I have my "lazy" moments. But I want people to understand that if, sometimes, well, often, I don't do...Reactions0reactionsComments1 comments
APLAID...I’m a patient of the NIH. I don’t believe there is anyone else out there with this disease besides my daughter and myself. Has anyone body be diagnosed with APLAID...Reactions0reactionsComments2 repliesDiagnosisAwareness
From Reactive to Proactive: Self-Administered Treatment...There's been a big change this year in how I approach my rare disease, hemophilia A. I'm treating myself at home once a week. Until now, I have always treated...Reactions0reactionsComments5 comments
Pola1 gene variation ...Hello, I would like to connect with a family who has a child with POLA 1 gene variation, specifically Van Esch-O'Driscoll Syndrome, my son has this variation....Reactions0reactionsComments0 repliesDiagnosis
Active 6 days agomy life with Polymyositis...About 7 years ago (I was 77 then) I began noticing body weakness, first, gentle, then more acute. I needed a cushion or two to rise from a chair, needed...Reactions0reactionsComments4 repliesDiagnosis
Bones in head constantly keep feeling like they swelling....For past 12 years I have had the sensation in my head that my skull is swelling.I also have a extremely itchy scalp and my face is constantly burning with...Reactions0reactionsComments1 replies
Tips for How to Set Boundaries With Others...More likely than not, if you're reading this, then you've likely experienced someone crossing your boundaries as a chronic illness/rare disease patient, telling you or implying that your condition isn't...Reactions0reactionsComments4 comments
Doctors can not figure out wife's medical issue...After over a year of testing they still can not figure out what is wrong. My wife had had roughly 8 cat scans, erg, colonoscopy, gastric emptying, mri, biopsys and...Reactions0reactionsComments3 repliesTreatmentSymptomsDiagnosis
Sponsored: One expert weighs in on an innovative CIDP treatment...By argenx · 3 min readLiving with chronic inflammatory demyelinating polyneuropathy (CIDP) can be difficult. From finding the right treatment to setting the right treatment goals and everything in between...
Phrenic Nerve Palsy...Two and a half years ago I had acute neck and shoulder pain. This lead to severe dyspnea treated as asthma, but then progressed from one to both hemidiaphragms not...Reactions0reactionsComments1 comments
ARFGEF-1: Neurodevelopmental Spectrum Disorder...I grew up feeling different. I was told I never felt pain, yet I seemed to know when I was hurt. The grown-ups thought I was lying when I said...Reactions0reactionsComments3 comments
Journey to a Rare Disease Diagnosis...Getting a new rare disease diagnosis can be a difficult undertaking. Some conditions, such as narcolepsy, are so misunderstood that it can take years to get an official diagnosis! The...Reactions0reactionsComments10 comments
Starting a Family When You Have Congenital Adrenal Hyperplasia...Congenital adrenal hyperplasia (CAH) is a genetic condition that can affect people of any sex. This is a rare condition that can require lifelong treatment. If you or your partner...Reactions0reactionsComments0 comments
Transitioning to Adult Care With Congenital Adrenal Hyperplasia...Congenital adrenal hyperplasia (CAH) is a lifelong condition that affects the adrenal glands, causing hormonal imbalances. For those with CAH, moving from pediatric to adult medical care is critical. But...Reactions0reactionsComments0 comments
