2020 will bring new clinical and therapeutic care to the MLD community. When we started serving MLD Families in 1999 – two decades ago – we had no idea how challenging and time-consuming it would be to improve clinical care and disease altering therapies. Along with your support, we’ve done a lot of heavy and […]
Last year when I read Kim Brown’s blog on her experience on the Hill for Rare Disease Week 2016, I told my husband, Trevis, that I wanted to go to Washington DC in 2017 and be an advocate for our precious son, Thomas, who left this earth to become an angel in October of 2015.
At the 2016 MLD Family Conference a conversation with Dean led to a decision to attend the Rare Disease week. It was a first visit for wife Nancy and I to Rare Disease week and a pleasure for us to assist daughter Michelle in attending this year. Last year she had planned to attend but
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
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 »
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
