Bohuslav Skoupý had trouble with his kidneys. He even had a transplant. He also had heart problems. In the end, it turned out actually by chance that Fabry disease was…
‘The future is here, it’s just not very evenly distributed’ William Gibson These days there’s much more literature about mal de debarquement syndrome (MdDS) and this resource gives excellent information…
I am a 63 widow, with 2 grown kids. I have pure autonomic failure, which you can read more about here. I went on disability in 2004; it took 4…
By: Teresa Scruton Hereditary Angiodema Abdominal Attacks There are 3 types of Hereditary Angiodema (HAE) abdominal attacks: Lower abdominal - swelling in wall of colon (large bowel), that causes the…
Living life as a rare individual and patient has its challenges day to day. The best feeling in the world, though, is having support: being around people who know what…
“I have cried a lot more in the last ten years of my life than ever before.” A parental odyssey of rare disease, in two of their three children, and…
First, I want to be clear-- I'm neither a doctor nor astrologer. This listicle is just for fun! Rare diseases are not Zodiac signs, and are tremendously challenging situations to…
By: Maria Palombini, IEEE-Standards Association For more than a decade there has been much propaganda on educating and encouraging patients to manage their healthcare. This was a direct shift in response…
As my children are getting older they seem to create elaborate stories of why they didn’t clean up their room or complete any other task on their to-do list. I’ve…
Talking about mental illness is never easy but I wanted to share my experience of it with you. In my case, it came as part of my struggle with Benign…
The Immunization Action Coalition (IAC) Express Newsletter reports that 981 cases of measles have been reported so far this year, with 41 new cases added just last week. Rare disease kids…
Learning that you or a loved one has a rare genetic disease can be scary. Doctors often are not very well versed in these types of disorders and may require…
Phenylketonuria (PKU) is a rare disease which causes phenylalanine (an amino acid) to build up in the body, leading to serious health complications. Since amino acids are obtained through the…
In May 2016, I was diagnosed with a rare genetic neurological disease called adrenoleukodystrophy (ALD). Sadly, it's incurable and there's no medication to ease my condition. Since then, my life…
Adapting to a long- term health condition, is not an easy road to be on. There are many phases we go through during our journey from denial to acceptance. It…
Emily Ventura has never met in-person another person living with progressive familial intrahepatic cholestasis (PFIC), her daughter’s life-threatening ultra-rare genetic disease. That will change on June 21st when Emily and…
Living with a chronic long-term health condition, can have a devastating effect on someone’s life as it affects everything we do. It’s like finding yourself on a new path without…
My name is Antonio Maltese and I am a 22 year old senior Political Science major concentrating in International Relations and minoring in German at Virginia Commonwealth University. Back in…
Q&A with NORD Director of Membership, Debbie Drell, on the Living Rare, Living Stronger Patient and Family Forum, June 21-23 in Houston, Texas Which health care professionals would most benefit…
I was diagnosed with benign essential blepharospasm at the end of 2015. This is a neurological condition which causes the muscles around my eyes to contract, resulting in uncontrollable blinking…
As I listened to her story I kept thinking, “You can’t make this stuff up.” Or at least no one would want to anyway. The first time I met Adeola…
We need to talk about adult rare disease patients. Adults who have a rare disease diagnosis are faced with a blaring issue-- I'm speaking for a large number of adults here,…
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You will never forget the day you are told your child has a one in a million rare disorder: the overwhelming fear of isolation, fear of what the future holds…
The Dupuytren Research Group was founded ten years ago. Our original name was Dupuytren Foundation. Our original mission was simple: to advocate for Dupuytren patients. Providing patient education, physician education, connecting patients with patients,…
My name is Casey. I’m 27 years old and have a 50% chance of becoming symptomatic for a neurodegenerative disease in my 30’s (if my onset aligns with that of…
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