What Happened During World Rare Disease Day 2016: Part 2

This is part two of our recap of World Rare Disease Day 2016. Catch up on the first part of this series here.

Rare Disease Day at NIH as a Patient Advocate US Pain Foundation Patient Advocate and Ambassadors

Submitted by Dawn Stancliff

“It was a huge success! My primary care physician went with me, helped me to set up a table for the US Pain Foundation, and then we attended the events and manned the table. I met so many others with rare diseases, but no one else with Melkersson-Rosenthal. It was an amazing day!”

World Without GNE Myopathy – India

Submitted by Shilpi Bhattacharya

We organised two events on rare disease day. One was a Rare Disease Awareness Essay Contest for school children in India. The other event was a rare disease awareness drive – we went to two malls and handed out flyers to the public and explained what rare diseases are to individual members of the public. Since this was our first time organising these events, we were not able to gather too much public participation but both events were a good start. We were able to reach out the public and explain rare diseases to them. It was also a good way to interact with people and understand the public perception on rare diseases.

Rare Disease Day Los Angeles & Los Angeles County

Submitted by Roxanne Dawn Gorzela

Mayor Eric Garcetti proclaimed 2/29 Rare Day in Los Angeles & Supervisor Antonovich, Supervisor Solis, Supervisor Knabe, Supervisor Kuehl & Supervisor Ridley-Thomas proclaimed 2/29 as Rare Disease Day in Los Angeles County. On 2/23, I attended the Supervisors of Los Angeles County’s weekly board meeting to be presented with the Rare Disease Proclamation & gave a speech about Rare diseases & CRPS (Complex Regional Pain Syndrome).

National Rare Eye Disease Day in US Congress!

The Curing Retinal Blindness Foundation sponsored a first ever Rare Eye Disease Day in Washington DC on Feb 25th. Representative Mike FItzpatrick (PA, Member of Rare Disease Congrssional Caucus) submitted a resolution to Congress in support of our day and encouraged his colleagues to support it. But then he took it a step further and made history: Rep Fitzpatrick submitted the resolution in Braille – the first in history to be submitted in this format!

From Rep Fitzpatrick: “For millions of Americans, living without sight is a reality – and one made more difficult when caused by rare eye diseases. We owe it to them as constituents and as members of our community to advocate for increase mindfulness of and critical funding for these conditions,” said Fitzpatrick. “By calling for a national day of awareness and introducing the resolution in Braille we’re sending a clear message that this Congress stands with those families impacted by eye diseases and blindness.”
CRB1 patient Mitchell Smedley, 12, accompanied Rep Fitzpatrick on the floor of Congress while his family, CRBf families and guests watched from the gallery.

Rare Disease Event for DukeHealth

Submitted by Nina Verin

“We had representation from: Marfen, Sceladerma, CF, Cadasil, Niemann-Pick, Batten Disease, Pitt-Hopkins, Ponti (2), KDVS and others. We also had professionals from Duke’s Undiagnosed Network (+ 2 families), UNC Peds Genetic and Metabolic Dept, NC Rare Disease Coalition, and many other local organizations.

“The highlight of the event was the videographer who was able to capture get families to open up about their diagnosis, their journey and struggles with their diseases and the impact that Rare Disease Day has on their community. Please check out our web site. WWW.RAREDISEASENC.COM”

Guadalajara Musical Event

Submitted by Jesus Navarro

“We concentrated on influencing around 150 people on the plaza by playing rock groups and taking lot of pictures with supporters.”

Pink Out for Pitt!

Submitted by Jessica Fletcher

“Pink Out for Pitt was a huge success! We were able to reach over 21,000 people through social media, raising awareness for Pitt Hopkins Syndrome and also raising money for research. We had an anonymous donor come forward offering to donate $1 for each Pink Out for Pitt post that was made to raise awareness for Pitt Hopkins Syndrome.

People from all over the world supported their loved one and/or friend/student/patient, etc who has Pitt Hopkins syndrome by wearing pink, making a sign saying who they support, and posting a selfie on social media. We had over 800 posts made in just the one day (for a small community – only 600 diagnosed worldwide)! People were directed to the Pitt Hopkins Research Foundation website, www.pitthopkins.org, where they could learn about Pitt Hopkins Syndrome and had the opportunity to support research. A huge day for raising awareness for our rare syndrome!”

Pitt Hopkins UK: Launch of New App!

Submitted by Sue Routledge

“We have developed an app for Pitt Hopkins Syndrome for anyone who has a smart phone or tablet to use and share! The idea is to have everything in one place, accessible to everyone’s fingertips. We want this to be something that can be shared with doctors, carers and teachers, so that everyone can benefit from it, to help our children.

“Although this is an app for Pitt Hopkins we believe it will be useful in parts to other rare syndromes especially those that are differential diagnoses for PTHS, ]for example, Angelman Syndrome. It’s a work in progress. We welcome any suggestions that people might add.” Learn more here.

Rare Disease Day 2016 at Dohmen Life Science Services

Submitted by Ryan Murphy

“For our event, in addition to the office wearing jeans and our Global Genes blue jean ribbons, the rare disease awareness team members at the various office locations put up posters for employees to write in responses to “Rare Disease Day matters because…” We got some great answers, ranging from facts about rare disease to personal and meaningful insights. Additionally, we hosted a “pay-it-forward” lunch donated by DLSS and encouraged employees to donate what they would have spent on lunch that day; the donations we collected will be given to Global Genes and NORD.”

Reaching Out Over Social Media for Primary Immune Deficiency Disease-Hypogammaglobulinemia & Porokeratosis

Submitted by Joanna Tierno

“Winter (especially February) tends to be a difficult month for primary immune deficiency patients and this year I was struggling with a second rare diagnosis- Porokeratosis so I wasn’t well enough to try to have an event. I had been thinking about hosting a fashion show.. So this year I focused on giving out rare disease ribbons and spreading awareness on social media.”

Participated in Jeans for Genes

Submitted by MaryKate Mela Purdy

“I spread awareness by sharing a lot of links from your website and asking everyone to wear jeans for genes and by using my social networks to share pics and info about Cortland, our son, and others.”