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...reactions5comments
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....reactionsrepliesDiagnosis
my 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...reactions7repliesDiagnosis
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...reactions1reply
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...reactions6comments
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...reactions3repliesSymptomsDiagnosisTreatment
Shining a Light on Rare Diseases...As a young mom raising a child with a rare disease, I've learned that feeling pressure from uncertainty and heartache is normal. My son's diagnosis of an ultra-rare disease turned...reactionscomments
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...reactions1comment
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...reactions6comments
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...reactions20comments
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...reactionscomments
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...reactionscomments
Navigating Overnight School Trips When Your Child Has a Rare Disease...As a parent of a child with 2 chronic conditions, preparing my daughter for an overnight school field trip without me was a challenge. However, we successfully navigated this journey...reactions2comments
1 year later, no diagnosis...Mom looking for support...It's been a little over a year since all this started. 2 hospital stays each 1 week long. First both hospitals showed results positive for scleroderma, (and...reactions1replyDiagnosisTips & AdviceSymptoms
Recently been diagnosed ...With dermatomyositis, unfortunately I've been suffering now from it for almost 4 years. I have athrophy my thinking space isn't what it was and the biggest challenge has been getting...reactions1replyCopingDiagnosisDepression
How to get diagnosed?...Hello. I have a rare disease no one has heard of. I've tried to get into a rare disease clinic but they require a diagnosis. How do you get a...reactions5replies
Early Intervention Gave Me Hope...When I first heard, "Your child has a global developmental delay," my heart shattered. At 22, a new and young mom, I knew something wasn't quite right the day my...reactions1comment
Calling Out with Grace...I try to approach life by considering others' perspectives, not just mine. Sometimes, though, I fail at this. As a rare disease advocate, I'm not free of or above unintentional...reactions4comments
Disclosing Rare Disease Needs...When living with a rare disease, how often do you disclose your needs? Daily? Weekly? Monthly? Living with a rare disease usually means that other people aren't well-informed about my...reactions2comments
Nags and /or citrine deficiency ...Looking for others who have NAGS and or Citrine Deficiency. I'm curious of how are others doing with having these rare diseases/deficiencies?...reactions1replyCaregiving
