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 behalf of metachromatic leukodystrophy, but also on behalf of all with rare diseases because at helps the rare disease community will help MLD along our journey.
Monday – Rare Disease Day at the NIH
- One of 40 exhibitors and poster presenter at this very important Advocacy Day. The poster is about the RUSP roundtable, and initiative focused on improving newborn screening.
- RUSP Roundtable is a MLD Foundation organized, hosted and sponsored event that is a unique gathering of key opinion influencers in the newborn space representing clinicians, state & public health, advocates, genetics, genomic sequencing, industry, ethics, privacy, and more to improve newborn and childhood screening and health.
- We are pleased to be the inspiration for newborn screening legislation just introduced in California by EveryLife Foundation that will require California to quickly implement new screens as they are approved by the federal ACHDNC. Right now each new disease requires legislative authorization. This “Once and Done” legislation will be model legislation for all the other states.
Tuesday – Rare Disease Legislative Conference
- Dean is the host and moderator for a day-long legislative training conference for nearly 300 advocates from e very state who have gathered in Washington DC. This is his 3rd year in this role and he continues to make sure every advocate walks away better informed and more confident as they impact policy for all of us.
- Newborn Screening breakout session presenter. Dean is responsible for sharing a full overview of the process, status, issues, and opportunities in Newborn Screening.
Wednesday – Rare Disease on Capitol Hill
- 300 advocates will split up to meet with all of their Congressional representatives using the training from Tuesday’s legislative conference to advance Rare Disease awareness and policy.
- Dean is leading a group of advocates representing the Pacific Northwest for six meetings with our Congressional representatives.
Thursday – Rare Disease Congressional Caucus
- The House has had a Rare Disease Caucus for quite a number of years. New this year is a Senate Rare Disease Caucus. The Senate has very few caucuses so this in itself is rather unique.
- Dean will be attending the Rare Disease Caucus meeting to share the Rare Disease voice.
The month of February is Rare Disease Month – our time to increase awareness of the possibility of Rare Diseases as a diagnosis. Please do your part – share these posts and plan a special event for Rare Disease Day.
Rare Facts – what we’ve learned so far …
- 1 in 10 have a Rare Disease.
- over 7,000 Rare Diseases … 30 million Americans, 30 million Europeans, and over 350 million world-wide are affected by Rare Disease.
- 80% of Rare Diseases are genetic.
- If all Rare Disease patients live together we would be the 3rd most populous country.
- 50% of those affected with Rare Disease are children.
- 30% of Rare Disease children will not live to see their 5th birthday
- Rare disease is responsible for 35% of all deaths the first year of life.
- Less than 5% of the Rare Diseases have a FDA approved therapy.
- Hear hoofbeats … think zebras!
Febru ary is Rare Disease month, culminating on February 29th – a Rare Day indeed – which is Rare Disease Day.
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- Harvey, A. M.; et al. (1979). Differential Diagnosis (3rd ed.). Philadelphia: W.B. Saunders
- Imperato, Pascal James (1979). Medical Detective. New York: Richard Marek. ISBN 0-399-90058-6
- Sotos, John G. (2006) . Zebra Cards: An Aid to Obscure Diagnoses. Mt. Vernon, VA: Mt. Vernon Book Systems. ISBN 978-0-9818193-0-3