Angelman Syndrome Foundation Challenges Families to Share Stories for Rare Disease Day

Ana de Barros, PhD avatar

by Ana de Barros, PhD |

Share this article:

Share article via email
in-person engagement

On the last day of February every year, hundreds of patient organizations worldwide get together to raise awareness for rare diseases.

This year, to celebrate Rare Disease Day on Feb. 28, the Angelman Syndrome Foundation (ASF) is challenging all families to share their story to inspire the Angelman syndrome (AS) community.

It’s estimated that about 30 million people in the United States live with a rare disorder or rare disease. In the U.S. a rare disease is one that affects fewer than 200,000 Americans at any given moment. In Europe, a rare disease is defined as one that affects less than one in every 2,000 people.

According to the National Organization for Rare Disorders (NORD), there are nearly 7,000 diseases that are considered rare in the U.S.

Because of the rarity and diversity of rare diseases, scientific research needs to be international and ensure that experts, researchers and clinicians are connected, that clinical trials are multinational, and that patients and their families can benefit from all available resources.

Often, children and their families suffer from lengthy delays in diagnosis. In addition, some of the symptoms associated with rare diseases may be relatively common, which can hide the underlying causes and add to the difficulty in diagnosis.

And because these diseases often result in heavy financial and emotional burdens on families, there are also serious problems with unequal access to proper treatment and care, even in world regions with social healthcare systems like Europe.

On this year’s Rare Disease Day, the Angelman Syndrome Foundation wants to celebrate the occasion with the AS community, Global Genes one of the world’s leading rare disease patient advocacy organizations  and all other organizations serving the rare disease community.

The ASF is inviting everyone to share their family stories with a photo of their loved ones with Angelman syndrome on their favorite social media channels.

To show that you Care about Rare, Global Genes created several special frames to build awareness for Angelman syndrome and other rare diseases.

The organization wants to encourage friends and family members of Angelman patients to participate in the initiative by uploading a photo onto a special frame and share it on social media using the #HugsForHope hashtag.

Also, anyone can share their story with Global Genes, including their photo, by writing up to 10,000 characters describing their experience in full. These individual contributions can help other patients and families who might be going through a similar diagnostic journey.

To help people get inspired, ASF has shared the stories of two families the FitzGeralds and the Bjorklunds  both of which have a loved one with Angelman’s. On Feb. 15, which was International Angelman Day, the foundation also proposed 15 ideas to raise awareness for the disease.

These efforts are making a difference. Last year, 1,700 Rare Disease Day stories were shared through Handprints Across America. NORD says U.S. media outlets mentioned Rare Disease Day more than 4,300 times.

And on April 28 …

In two months, on April 28, an international group of designers will be showcasing their latest designs in New York City while the Foundation for Angelman Syndrome Therapeutics (FAST) raises funds to support research for a cure for Angelman’s.

The Angelman Syndrome Collections Presentation will take place at the Paul Hotel NYC, where designers will present their collections to an invited audience of fashion industry members, including style leaders, fashionistas, and the media. The platform will give visibility to both these designers’ creations and to Angelman syndrome.

More information is available here.