2014 RARE Disease Day Activities

Date: 03/13/2014

FIRST goes to Washington DC for Rare Disease  Legislative Advocate (RDLA) Conference

Pictured are:  Angela Godby, Moureen and other Rare advocates
with Congressman Jim Gerlach
Cate Zavitz with Senator Saxby Chambliss

"Carry the Torch” was a message given to the participants at the Rare Disease Legislative Advocate (RDLA) Conference in Washington, DC, which was one of many events during Rare Disease Week held at the end of February.  It was an appropriate symbolic message, considering the 2014 Winter Olympic Games had just come to a close, and the world watched the torch burn for over two weeks.  But unlike the Olympic Games, rare disease will not end.

The word "rare" in the ichthyosis community seems minute and lonely, yet to use "rare" with over 150 represented diseases and disorders together in one room, "rare" becomes strong and familiar.  The RDLA was not focused on one type of rare disease, but on all rare diseases and disorders.  In attendance were parents of affected children, affected adults, and patient advocacy groups.  Some of the families did not have a diagnosis or know what mutated gene is responsible for their disorder.  Imagine being the family who learns only one other person has the disorder your child has and they live in another part of the world?   Rare takes on a new meaning.

Sam and Cate visit with Moureen

Lobby Day brought a new charge, which was to take our message of rare to the Hill and visit with senators and representatives, bringing a personal story and reinforcing the need for more funding for the National Institutes of Health.  Three bills HR 1591; HR 3116; and HR 460 were introduced in the House, and the message was to ask Congress to co-sponsor these bills.  Is there a better time to advocate for increased funding and ask for more resources to improve diagnosis, spur development of lifesaving treatments, and to ask for better access and affordability of treatments?  More information about the bills:

FIRST was fortunate to attend this event, and to share the few days in Washington, DC with the Zavitz family, who has a daughter with lamellar ichthyosis.  Their daughter, Cate, was picked to represent Georgia at RDLA and Lobby Day, and she did a great job sharing her story with senators and congressmen.    Also available to attend a visit to the Hill was Angela Godby, an affected adult with lamellar, and former board member at FIRST.  Angela joined Program Director, Moureen Wenik, for a visit to the office of Pennsylvania Congressman Gerlach. 

FIRST carried the torch in Washington, DC, for ichthyosis and all rare disease; more families are needed to participate in Rare Disease Week 2015 to “Carry the Torch” for one another and many others affected.


FIRST Members Took Action for RDD!

An interview of FIRST member Laurie Anne F., mother of Joseph and Faith, both affected with CIE, aired on 6 ABC Action News, Philadelphia, on Rare Disease Day.  Also a big thank you to Laurie for contacting Representative Tim Briggs of Montgomery County PA, whose staff wore “blue jeans” on Rare Disease Day, to show their support.

We’d also like to extend a heap of gratitude to Erin Burke E. and her family as they honored Rare Disease Day through several different coordinated FIRST fundraising events.  They held a group fundraising dinner at Chick-fil-A, a donation box, and had a T-shirt sale. More than $625 was raised! Erin's son Ethan, affected with lamellar ichthyosis, also helped create an awareness poster to display at Chick-fil-A and handed out ribbons and informed the public about ichthyosis.

Shirts were also donated to Ethan's class, so when he arrived on Rare Disease Day, he would come in to a room of support!  And Erin presented a lesson on recessive inheritance to Ethan’s second grade class, teaching them how to use a punnet square to determine which children's genotype would match with their parents' for rare disease day.  Thanks to all for making a difference!

FIRST member Kelly R. from Rhode Island,  held a fundraiser at her place of employment, Paychex.  Her beautiful daughter, Sienna is affected with epidermolytic ichthyosis.  Kelly held a “Jean for Genes” day on Rare Disease Day and raised $563 through donations from her amazing coworkers.Thanks to everyone for all your support.