When Patrick and Mirielle St. Arnaud were born blind from the eye disease Leber’s congenital amaurosis (LCA), it seemed unlikely that either would ever gain better vision.
But a 2009 gene-therapy breakthrough has given hope, and more. Researchers at the Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania School of Medicine have begun successfully treating LCA with injections of healthy versions of children’s defective genes, effectively reversing the disease.
However, LCA can be caused by defects in several different genes—and the one that affects the St. Arnaud siblings (NPHP5) has not yet been copied, a process that requires significant time and funding.
Enter the La Grange Lions Club volunteer organization, who have taken up Patrick and Mirielle’s cause, launching an Indiegogo campaign with hopes of raising $25,000, each dollar of which the club will match. The money will all be put directly towards research to produce a healthy copy of the NPHP5 gene.
“What really excites us is that … this is something where there is a tangible, reachable goal that could happen within a year to the next 18 months,” said La Grange Lions Club president Todd Combs. “If we could get the funding to start this, there is already proven therapy that is working for similar genes.
“It’s more than [just] possible,” that Patrick and Mirielle could gain their sight, Combs said. “It’s probable.”
Patrick, 7, and Mirielle, 5, are the children of Lee and Lori St. Arnaud, residents of La Grange Highlands since 2002. Mirielle, who has slightly better vision and can see a very narrow cone, attends Highlands Elementary, while Patrick goes to Salt Creek Elementary in Elmhurst, which has a specialized program for low-vision students.
In their Indiegogo appeal, the St. Arnaud parents describe their kids as funny and smart, with Patrick a car-loving Cub Scout and Mirielle a violin-playing jokester, who would have a “perfect” life without their condition.
“After a single injection of the healthy gene, Patrick and Mirielle can discover a new world,” the St. Arnauds wrote in the “We Want to See Our Mom & Dad” campaign. “We want this for Patrick and Mirielle, and with your help it is possible.”
Combs described the campaign as ideal for the Lions Club, which, while an international organization (with headquarters next door in Oak Brook), often focuses its efforts on local causes. And Lee St. Arnaud spoke warmly of the experience of having the community rally for his family.
“It’s exciting and it’s overwhelming and humbling to see everyone taking the time to put so much care and effort into helping you out and helping this cause,” St. Arnaud said. “It’s really been a great experience for us and we’re just really happy that everyone has been able to go at it and make it such a positive experience for everyone.”
No mater what, the family would always have a positive outlook on what their kids could accomplish, St. Arnaud said. But a successful treatment would remove a lot of the barriers in their path. And he is optimistic.
“It’s not a matter of if were going to win the fight against blindness, it’s a matter of when,” the proud father said. “The hope that these people are putting forward is going to someday come back and be rewarded with a cure. It’s really that powerful.”
You can help Patrick and Mirielle by participating in the La Grange Lions Club’s Indiegogo campaign here.
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