Awareness

Hear hoofbeats? Think Zebras … it could be a Rare Disease!

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 […]

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50% of those with Rare Disease are Children, 30% will not live to age 5

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

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Rare Disease – 3rd Largest Country!

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

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80% of Rare Diseases are Genetic

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

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Over 7,000 Rare Diseases

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

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New Year’s Reflections … and Highlights from December Meeting in Boston

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

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Centers of Excellence for Leukodystrophies and Lysosomal Disease

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.”

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Report from FDA PFFD IEM meeting

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

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