It’s Our Opinion … I presented this poster at the NIH’s Rare Disease Day event earlier this week (2/27/17). In short, to maximize impact and credibility, we are asking all organizations – government, advocacy, industry/pharma, academia, etc. to be consistent with their public sharing of Rare Disease facts. I realize that sometimes we must be very scientific about […]
A MLD mom recently asked about donating her son’s brain and other tissue to research after he passed. There is no more personal or profound donation that can be made to advance MLD research. This post is a lightly edited copy of my response to this special MLD mom … It’s always difficult to talk about tissue
The first rule of blogging is to post good content on a regular basis. The second is to keep your posts short, to the point and to not mix multiple topics into one post. Oh boy, am I in trouble … My 6th trip to DC this year ended reflecting at 35,000′ with a Crater Lake Hazelnut Espresso Vodka courtesy of
For those of you who know me, I have been a teaching computer skills to middle school kids for 17 years!. While I love school now as a teacher, I did not enjoy all aspects of school as a student. My favorite classes were Science and Gym! Social Studies, not so much! Shhhhh….. I really
Rare Disease Week in DC … a parent’s perspective Read More »
Today is Rare Disease Day. It’s an appropriate day to announce we have come one step closer to a MLD Newborn Screen! The pilot study to test the newly developed MLD Newborn assay/technique on current newborn babies born in Washington state will be starting within the next three months once testing lab equipment is in place.
MLD Newborn Screening Pilot Study – Announcement Read More »
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 »
50% of those affected with Rare Disease are Children! Of those children, 30% will not live to see their 5th birthday. Rare Disease is a leading killer of our children. Nearly a third of the children with rare disease will not live to see their 5th birthday. Rare Disease is responsible for 35% of all deaths (of
50% of those with Rare Disease are Children, 30% will not live to age 5 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
80% of the 7,000 Rare Diseases are genetic in nature. While most rare diseases show symptoms early in life, many are later onset diseases because our genetics are always with us. Genetic inheritance patterns can vary from single gene autosomal recessive (like MLD) where 50% of offspring are carriers, 25% are affected, and 25% are free of the
