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
There are over 7,000 Rare Diseases. While each of the 7,000 diseases may be rare, when you add them all up they affect 30 million Americans … 30 million Europeans … 350 million around the globe … 1 of every 10 people have a Rare Disease. Most of the muscular dystrophies are rare … cystic fibrosis is rare … many cancers are
My name is Tarryn and my older sister Wanita was diagnosed with MLD in 2007. She was 16 and I was 14 when she passed away and passed in 2010 from juvenile MLD. I live in South Africa. She was so loving and so caring. Wanita was a very friendly person who loved everybody she
Happy New Year! As we head out of the holiday season and into a new year, it is a time that we reflect on life, cherish family, and count our blessings for all that we hold close to our hearts. Holiday music has been playing everywhere you go for the past month; while I enjoy
New Year’s Reflections … and Highlights from December Meeting in Boston Read More »
As you read this most of the MLD Family™ is up and in the midst of their Christmas day – we have a Hawaiian family that is (hopefully) still snoozing! It’s Christmas all over the world … from New Zealand & Australia through SE and central Asia, Europe, Africa, North, Central and South America the
Registration for our 2105 MLD Family Conference in Newark Delaware is underway and closes in just a couple of weeks. If you are a MLD Family we’re anxious to have you register. Many of your MLD Family will be there to meet, share, and socialize with. Please bring your MLD loved one with you – we not only want
Earlier last month we had the opportunity to see several presentations about the Leukodystrophy Center of Excellence (CoE) at Children’s Hospital of Philadelphia (CHOP), which opened today, May 1st. The mission of the [CHOP Leukodystrophy CoE] center is “to deliver cutting-edge, integrated, multidisciplinary clinical care, diagnostic evaluation, and therapeutics to infants, children and youth with inherited white matter disease.”
Centers of Excellence for Leukodystrophies and Lysosomal Disease Read More »
Today, February 28th, is Rare Disease Day (actually RDD is the 29th – but we don’t have one of those this year!). Today we celebrate and recognize the 1 in 10 of us that have one of the 7,000+ rare diseases … over 30 million here in the US and 350M worldwide, what would be
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
