Eyes on Hope
Help Preserve
Beau & Boyd's Eyesight
Leber Congenital AMAUROSIS
AIPL1 LCA occurs when both copies of the AIPL1 gene are non-working, or not able to produce protein due to genetic variants. This condition results in a spectrum of severity in vision loss.
Individuals with AIPL1 variants typically have progressive vision loss from birth and eventual total macular atrophy (severe blindness).
The outer retina is sometimes preserved up until age 4, which has made this gene a target for gene therapy research. This means the window for treatment can be small.
AIPL1 is responsible for around 7% of LCA cases, making it an even more rare condition.
BEAU’S sTORY
Beau was diagnosed with AIPL1 LCA when he was 9 months old, after several medical tests and genetic testing. He is predicted to have visual acuity of about 20/450- putting him in that legally blind range.
But that doesn’t stop him! He has been working hard with his vision teacher as well as orientation and mobility teacher to help access his world his way. He uses a white cane to get around unfamiliar places and has started work on braille skills along with learning his alphabet in large print.
Beau loves to learn! He has a love for music, being outside with his chickens and being a big brother to Boyd. He is involved in his church’s AWANA program and never misses a Sunday service.
If Beau is able to maintain the vision he has, this would be life changing for him. LCA is a progressive disease and with Beau’s gene, he is predicted to start losing more vision around the age of 4 years old... he just turned 4 this April.
Boyd’s Story
Boyd was diagnosed with AIPL1 LCA at an earlier age since his family knew what to be on the look out for symptom-wise. Genetic testing was done, and it was confirmed around 5 months of age, that he had the same progressive inherited retinal disease as his brother.
Boyd’s predicted visual acuity is around 20/220- still placing him in that legally blind range, but with a bit “more vision” than his older brother.
You’d never be able to tell he has a vision impairment- the way he runs around, interacts with his toys and his family. Boyd is currently learning to talk and wants to do everything his big brother Beau does- and with an attitude!
He enjoys reading books, dancing to music and chasing afer his brother. He always has a smile on his face.
At just 22 months old, if Boyd is able to maintain the vision he has with the help of the gene therapy, it would be life changing. With this opportunity, he may not even need to read braille!
wE aPPRECIATE YOUR SUPPORT!
Beau and Boyd were diagnosed with a progressive inherited retinal disease (LCA) before the age of one. At the time, doctors informed their parents that they had a severe vision impairment and that in a few short years, they would be expected to lose more vision and ultimately go completely blind. They were told that there was no current cure.
But they never lost hope... And now, just three years later, Beau and Boyd have the opportunity to get life-changing gene therapy surgery. This would help preserve their vision and maybe even improve it!
They are faced with medical and accommodation expenses as they travel to the United Kingdom for many weeks, for these crucial and expensive surgeries. Any and all help, whether it be in the form of a monetary donation, or a prayer would help make this trip possible and is so greatly appreciated!
Your generous support will not only contribute to preserving Beau and Boyd’s precious eyesight, but will also be a beacon of hope, ushering in a brighter future- filled with possibilities. Thank you: GoFundMe Link.
