February 29th is Rare Disease Day this year. 1 in 10 – 30 million Americans – have one of the 7,000 rare diseases. On this rare day take a look around – who is it in your circle that has a rare disease? MLD Foundation is very busy this Rare Disease Day not only on […]
MLD Foundation – Very Active This Rare Disease Day (2/29) Read More »
When we hear “clippity clop” our brains immediately think horses. Zebra is the American medical slang for arriving at an exotic medical diagnosis when a more commonplace explanation is more likely.[1] It is shorthand for the aphorism coined in the late 1940s by Dr. Theodore Woodward, professor at the University of Maryland School of Medicine, who instructed his medical interns: “When you hear hoofbeats, think of horses not zebras“.[2] Since horses are common
Hear hoofbeats? Think Zebras … it could be a Rare Disease! Read More »
If everyone with a Rare Disease lived in the same country we’d be the 3rd most populous country in the World! Rare disease affects all population groups in all countries and all sexes. Some rare diseases are more prevalent in a few cultures where there has been less outside family mixing. It might help you to
Rare Disease – 3rd Largest Country! Read More »
A meeting of researchers, clinicians, industry and academia was convened by the MLD Foundation on June 24th in Washington, DC to discuss the openNHS Manifesto we wrote about in this blog post. Since a NHS is not a therapy, NHS participants have historically be giving time, energy, and effort, not to mention exposing their MLD loved ones to occasional invasive
openNHS Manifesto – Meeting Report Read More »
Great Patient Focused Drug Development (PFDD) meeting at the FDA Tuesday discussing patients perspective on the neurological inborn errors of metabolism (IEM). Dean Suhr, president of the MLD Foundation, spoke on the second panel of the day and was able to both share and stir the pot a bit with regard to some of the patient perspectives on
Report from FDA PFFD IEM meeting Read More »
A new Natural History Study (NHS) for MLD was launched a few weeks ago. We have taken the bold step of recommending that families NOT participate in this study … for now: It is our belief that all natural history studies be OPEN access, meaning the study data be maximized by being made available to other researchers from other academic
Join our call for OPEN Natural History Studies Read More »
Has my Sunday morning coffee not kicked in? Am I reading this wrong? Tell me it’s not true … Alexion has an “effective therapy” for paroxysmal nocturnal haemoglobinuria New Zealand is proposing to decline access to therapy for its citizens … not because it does not work – they acknowledge it is an “effective therapy” – rather, they
The requirements for adding a Newborn Screen (NBS) to the RUSP (Recommended Uniform Screening Panel by the SACHDNC/DACHDNC (Secretary’s Discretionary Advisory Committee on Heritable Disorders in Newborns and Children) consists of four primary criteria: An acceptable treatment protocol in place that changes the outcome for patients diagnosed early with the disease An understanding of the condition’s
Newborn Screening – Should a Viable Therapy be a Requirement for a NBS? Read More »
I ran across this article a few minutes ago. It’s a great insight into the challenges those of us working in rare disease advocacy working encounter. Every person and agency mentioned in this article is someone we at the MLD Foundation regularly come into contact with as we work on behalf of those with MLD.
Rare Disease Advocacy – Behind the Scenes Read More »
I was pleased to be the organizer and host for the RARE Project | Global Genes RARE Patient Advocacy Summit on September 29th, 2012. The day-long event with 140 in attendance and over 120 viewing via a live webcast. Videos of the event are available below for viewing.
RARE Patient Advocacy Summit – 2012 Read More »
