Ataxia and Other Rare Disease Events

Every May, people all over the world show their support for people living with and affected by the Ehlers-Danlos syndromes (EDS), and hypermobility spectrum disorders (HSD). Our shared mission is important throughout the year, but May is a time we all come together, share experiences, and highlight what is needed to progress change.

ALS Awareness Month is a campaign to spread awareness of and raise funds for research for a cure for ALS (amyotrophic lateral sclerosis, also known as Lou Gehrig’s Disease).

During the month of May we are asking you to come together to create your own fundraising ideas to support our vision to help deliver a cure for Mast Cell Diseases. With your help, we can ensure all those with these diseases receive early and correct diagnoses, optimal treatment and the emotional support they need. #MastCellMay #Mastocytosis

Approximately 6,000 children are born in the UK each year with a syndrome without a name – a genetic condition so rare that it is often impossible to diagnose. Without a diagnosis it can be difficult to access basic information and support #UDC #Undiagnosed @SWAN_UK

The KIF1A.ORG community was recently featured in “The Gene: An Intimate History”, a film about how scientists, doctors and patients are unlocking the power of science to diagnose and treat genetic diseases. Now more than ever, our world is looking to pioneers and innovators to accelerate scientific breakthroughs that will improve and save lives. Part One of The Gene highlights the relentless KIF1A.ORG community and our mission to find a cure for KAND

Adapting to Change, sustaining care in a new world World Hemophilia Day is about bringing the global bleeding disorders community together. With the COVID-19 pandemic having a major impact on people with a bleeding disorder, that objective has never been more important. The world has changed greatly over the last year, but one thing hasn’t: we are still in this together. Join us on April 17 and tell us how you have adapted to change during this unique time, and how you are working hard to help sustain care in a new world!

The IPA is excited to announce that the international Pompe community has chosen April 15 as the annual International Pompe Day! The goal of International Pompe Day is to foster international awareness of Pompe Disease and the slogan for our day is “Together We Are Strong”.

The Fabry disease community celebrates Fabry Disease Awareness Month in the U.S. and in a few other countries in April each year. In the U.S. the National Fabry Disease Foundation and the Fabry Support & Information Group (FSIG) work with Fabry community members in each state to obtain as many official state governors’ proclamations as possible. We recognize Fabry disease awareness in April in every state but not every state has an official program or some states will only grant a week or a day. Each year you can see photos of governor’s proclamations and a map of our progress at www.facebook.com/FabryDisease

Lipodystrophy is a group of rare conditions characterised by the lack of subcutaneous fat (normal fat storage under the skin). Lipodystrophy can be generalised (total fat loss) or partial (partial fat loss) and familial (inherited) or acquired (not inherited). The inability to store fat under the skin causes fat to be stored in places such as the muscles and liver which leads to severe metabolic complications including insulin resistance, diabetes, dyslipidaemia, heart disease, kidney disease, fatty liver disease and many others. #WorldLipodystrophyDay @LipodystrophyUk

The first awareness day for #CACNA1A Gene