If Rare Disease Life had Zodiac Signs
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…
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A New Path to Helping Patients with Rare Diseases
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…
A Hereditary Angiodema Story: Is it Okay for Me To Laugh and Smile?
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…
Coming Through the Darkness: a Blepharospasm Story
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…
Immunizations and Rare Diseases: A Resource
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…
An Introduction to the Coriell Institute for Medical Research: FAQS About Biobanking
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…
“I Can Never Let My Guard Down,” Kevin Alexander’s Phenylketonuria Story
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…
An Adrenoleukodystrophy Patient Story: “Every Day is Like Christmas Day”
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…
Living with Blepharospasm. Validating your Sense of Purpose.
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…
The First Ever PFIC Network Family Conference will Bring Families Affected by the Disease Together This Week
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 Chronic Illness. Finding Your Inner Strength.
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…
How I Turned Huntington’s into My Life’s Passion for Change
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…
Don’t Miss this Q&A about the Upcoming NORD Patient and Family Forum
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…
Living with Blepharospasm, Coping with Social Phobia
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…
Rare Inspiration: A Myasthenia Gravis Patient Story
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…
Opinion: Adults are 50% of Rare Disease Patients— Let’s Start Acting Like It
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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A Rare Story Following HPS Awareness Day
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…
Learn about The Dupuytren Research Group
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,…
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Huntington’s Disease: Choosing to Make a Difference
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…
No Gene for the Human Spirit
“There Is No Gene for the Human Spirit”—from the movie Gattaca, 1997 Whether it’s distant uncles purported to be horse thieves in the early days of the…
Women with Dupuytren Disease
A traditional Dupuytren narrative is that Dupuytren is primarily a painless nuisance problem of bent fingers in old men. This perception does a disservice to many. Not only is Dupuytren common…
My Battle, My Victory: an HAE Story
Loukisha shares her journey with hereditary angioedma (HAE). Living with a rare disease you'll experience highs and lows. Unfortunately the moments of struggle are unavoidable; all you can do is…
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Pliant Announces Phase 1 Clinical Study Evaluating Anti-Fibrotic Agent PLN-74809
Pliant Therapeutics, Inc., a biotechnology company specializing in developing and commercializing treatments for fibrotic diseases, announced on January 3, 2019 through PRNewswire, that it has initiated a Phase 1 first-in-human…
A Christmas Prayer: Words from a Chronic Illness Patient
What if this Christmas season, God would appear to me and say, “Ask what I shall give thee,” as He did in a dream to King Solomon many years ago.…
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PKU and Living Medicines: Spotlight Synlogic
Press releases earlier this year on biotech company, Synlogic, announced quite favorable results on both pre-clinical and clinical data on a unique application of synthetic biology for the rare disease, phenylketonuria (PKU). In just…
