FOR IMMEDIATE RELEASE
Contact: Maureen Neville, Communications Director
Noblesville, Indiana 2-Year-Old Living with Extremely Rare Skin Disease
COLMAR, PA - May 12, 2014 - Pearson Louise Swisher of Noblesville, Indiana was born in 2012, affected with a severe and rare skin disorder lamellar Ichthyosis. She has the rarest form of the mutation, NIPAL-4. It has been two years and the family has yet to meet another single person living with the same disease - until now. From June 20-22 they will attend the FIRST, Foundation for Ichthyosis & Related Skin Types, National Family Conference in Indianapolis.
The conference is a unique gathering of the world's foremost medical researchers & geneticists in the field of keratin mutations of the skin. The conference is also a union of patients affected with the rare disease of ichthyosis and members of the FIRST patient advocacy group. It is likely the only opportunity for those affected with this rare disease, to connect with others suffering the same affliction, face-to-face.
According to FIRST, each year, more than 16,000 babies are born with some form of ichthyosis, of those, approximately 300 are born with a moderate to severe form. The symptoms include cracked, scaling and reddened skin, inability to sweat, mobility difficulties, emotional distress, and a high probability of overheating and infection. The disorder can be life threatening and affects people of all ages, races, and gender. Ichthyosis usually presents at birth, or within the first year, and continues to affect the patient throughout their lifetime.
"There is no known cure for ichthyosis, only treatments," said Jean Pickford, Executive Director of FIRST.
« Back to Previous Page