Tags » Rare Disease

No, I Won't Shut Up About Rare Diseases: This Is Why

In case you’ve just emerged from the wilderness, the United States Congress is currently debating, like a crew of cheap Hollywood villains, whether or not millions of Americans should be allowed to access basic healthcare. 991 more words

The lesser of 2 evils?

…but right at diagnosis (after the brain surgeries) I had 2 huge fears.  Fears that kept me up night:  that I would have to have… 59 more words


No time like the present

I walked into my living room after laying Ely down for nap and it was a disaster. My couch was all torn apart, pillows on the floor, everything in every toy basket seemed to be emptied all over, bringing the risk factor of navigating my living room to somewhere between high danger and impending doom zones. 859 more words

Why research to benefit few?

After learning of rare medical conditions such as butterfly syndrome and muscular dystrophy, I asked: “Why would researchers invest time and money into solutions that would only benefit a small percentage of human race?” 158 more words

1st NUBPL Foundation Fundraiser

Last year we founded the NUBPL Foundation to elevate NUBPL awareness and research. In February 2015, our daughter was diagnosed with a recently discovered form of Mitochondrial disease named after the affected nuclear gene, … 233 more words


When You Become a Member of a Community You Didn’t Ask to Join

Well, it’s been six weeks since I had surgery to make my achalasia manageable.  I had my “How are you doing?” appointment with my surgeon this week and got the green light to go out into the world and act like a normal person.  629 more words

Memoirs of a clumsy cart-horse

I was born in the UK in the winter of 1976, a healthy baby girl. 8lb 6oz, ten fingers, ten toes and all the cute sqidgy features that you’d hope for when it comes to your precious bundle of joy….Who am I kidding, the truth is we all enter this world shriveled, pruney and covered in yucky stuff!…Ok well after I’d been wiped off, made to cry or at least make some sort of noise to prove I was alive. 1,297 more words