#KnowYourGene For International Rare Disease Day

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Sofia Sees Hope launches International Rare Disease Day February campaign — ‘Get Tested, Get Connected’ — to encourage those diagnosed with rare inherited retinal diseases to receive genetic testing.

Ledyard, CT (February 6, 2018) — Sofia Sees Hope, an organization dedicated to finding treatments and cures for blindness caused by inherited retinal diseases (IRDs), has launched a hashtag campaign in advance of International Rare Disease Day to shine a spotlight on the importance of genetic testing for rare IRDs.

#KnowYourGene is a campaign for Facebook, Twitter and Instagram that will provide public education around genetic testing, and its critical importance in the diagnosis and treatment of rare inherited retinal diseases. February 28 is International Rare Disease Day.

SSH will publish articles and patient stories on its website throughout the month that focus on the role genetic testing plays in both the diagnosis and treatment of IRDs. In time for Rare Disease Day, SSH will unveil its Family Connections program, which will help bring together families with the same genetic diagnoses.

With inherited retinal diseases, genetic testing is needed to confirm a clinical diagnosis. With some IRDs, including Leber congenital amaurosis (LCA), myriad genes can cause the disease. Pinpointing the specific gene helps patients find the best and most appropriate treatments and clinical trials for possible cures. Additionally, some forms of LCA can include other health issues — such as kidney function — which are critical to uncover early.  

Obtaining a genetic diagnosis for a rare IRD is complex. SSH financially supports a free genetic testing program managed by Foundation Fighting Blindness that makes testing and counseling accessible to those with a qualified clinical diagnosis. In addition to being free, families do not have to travel distances to special medical facilities or genetic counselors to take advantage of this specialized testing. The panel itself tests a broad spectrum of 181 genes across IRDs, including LCA, retinitis pigmentosa, Stargardt disease, Usher syndrome and more.  

“Perhaps just as important as knowing your gene in order to receive the best medical care is that fact that knowing your gene can help you find other patients and families who are dealing with the same medical issues you are,” said Laura Manfre, co-founder and president of Sofia Sees Hope’s Board of Directors.

“Being initially diagnosed with a rare disease can be isolating and terrifying, and being able to find others like you can be of tremendous comfort,” Manfre said. “The slogan we have for this campaign is ‘Get Tested, Get Connected’ because that’s what happens when you pinpoint the gene that has caused your IRD. It greatly helps to alleviate a lot of the isolation families feel. Our new Family Connections program will go a long way to helping newly diagnosed families feel less alone.”

For more information on free genetic testing, visit www.blindness.org/genetic-testing

Rare Disease Day events in CT

2018 Rare Disease Day at Quinnipiac University

Tuesday, February 27 1-3 pm

Room MNH 101 in the Frank H. Netter MD School of Medicine, North Haven, CT

Rare Disease Day is a global event when we raise awareness of some of the 7,000 different rare diseases. Although each disease on its own is rare, amazingly 1 in 10 Americans is living with a rare disease! The goal of RDD is to connect patients, families, caregivers, and patient organizations; to provide opportunities for patients and parents to share their stories; and to promote education, awareness, and advocacy.

SSH board member Shanda Easley and her daughter Helena, who is currently seeking a clinical diagnosis for gradual vision loss, will be in attendance.

Held in Room MNH 101 in the Frank H. Netter MD School of Medicine.

Connecticut Rare Disease Day Advocacy Event

Wednesday, February 28 at 8:30 am

Legislative Office Building, 300 Capitol Avenue, Hartford, CT 06106

The goal of advocacy events is to draw attention to rare diseases as an important public health issue that cannot be ignored.  This is an opportunity for patients, caregivers, medical professionals and industry representatives to come together and educate elected officials about rare diseases and what it’s like to live with or care for someone with a rare disease in the state.

Event Host: Kristen Angell, kangell@rarediseases.org

About Sofia Sees Hope

Sofia Sees Hope was founded in 2014  by Laura Manfre and Charles Priebe, whose daughter Sofia has Leber congenital amaurosis (LCA). This rare degenerative genetic condition is characterized by severe vision loss at birth and leads to total blindness.

The mission of Sofia Sees Hope is to transform the lives of those affected by blindness caused by rare inherited retinal disease. The nonprofit organization generates awareness, raises funds for research, and provides outreach, support and education to those affected by LCA and other rare retinal diseases

For immediate release
Elissa Bass
Dir. Marketing/Communications

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