Sadly, one of the biggest side effects of this disorder is he will eventually lose his vision from retinitis pigmentosa and macular degeneration. We have always known this was a potential for him, but we thought he had plenty of time on his side until this would happen - he's only 10! He began needing glasses at age of 6 for near sightedness, but wasn't showing symptoms of anything more serious until he was 8. At this time our nightmare turned into reality when he exhibited night blindness- the first sign that his retinal vision deterioration was progressing faster than we thought it would. Tests confirmed that this indeed was the case. It was devastating news. Since then he has undergone 3 ERGs in the last couple of years and each time there’s been additional loss, showing reduced and delayed retinal function with increased retinal lesions. The biggest chunk of deterioration occurred since April 2013, when his vision went from a 20/80 to a 20/100. Then in February 2014, his vision further deteriorated and is now 20/200 and he is legally blind in his right eye. His left eye is not too far behind. He has central vision issues due to the macular degeneration and peripheral issues due to the retinitis pigmentosa – both a direct side effect from his primary condition of LCHAD. His vision went from night blindness to now he no longer can see in low light situations, for example outside at dusk or at a dim restaurant.
For a 10 year old boy, he has been extremely brave in bracing what his inevitable future looks like. He speaks very openly about going blind to strangers and the possibility of needing a service dog one day. But, he also keeps the thought of a cure in his prayers each night as well. Marcello asks to be normal like his friends. He wishes he can play hide and seek at night or go night swimming like everyone else his age. Instead, when it’s dusk out he must come inside and wait for his friends to finish playing and join him inside where there is light. He is blessed with friends that are sympathetic to his condition and take turns staying with him and guiding him in low light situations.
We have worked with the school district for the last three years, where he’s been getting braille instruction in preparation for his vision loss. Starting this school year, he now works with the vision teacher 5 days a week, since his eyesight has rapidly declined since last year. Marcello also began using modified technology in the classroom last year because he is unable to see the Smart Board. He uses an iPad for learning, where all his textbooks and reading books are located so he can increase the font and lighting. He also uses a laptop in school for work assignments. Any paperwork that is handed out is magnified to 150% on 11 x 14 paper so he can see it.
There is finally hope… science is making great strides! As his parents we have been doing all we can to stay abreast of any research, trials and fundraising. There are approximately 250 kids in the nation with this disease, so there are not many research studies out there for this specific condition. The Oregon Health and Science University (OHSU) Department of Medical and Molecular Genetics has started a research study to determine the cause of retinopathy resulting from LCHAD Deficiency, so there is some renewed optimism. Once the cause is determined, they can begin to work on much needed treatment options. We have done many different fundraisers for this purpose, down to Marcello’s brother and friends making survival bracelets and selling them over summer break. Every bit helps! At this point, we require additional help with fundraising outside our immediate network to move this study along faster as we don’t have much time on our side. Our fundraising goal is to raise $20k in order to bridge the financial gap until they hopefully receive the very promising grant they applied for. Without these funds, the study will cease until the grant is awarded in June. They only have funds to keep the study running through February. Marcello’s vision doesn’t seem to be leveling off like we anticipated and thus, we do not have time on our hands for the study to be put on hold. It is our mission to raise money towards this remarkable new possibility of restoring vision for Marcello and the other children like him or with other genetic vision disorders. We don’t want to stop here though. We know there are families in need of technologies and assistance for their children who have debilitating vision issues like Marcello and we want to help. We are also optimistic that science will continue to progress and there will be other studies like the one in Oregon.
To help us with these efforts, we have created a non-profit foundation, called Marcello’s Miracle Foundation, which is a component fund of the Community Foundation of Orange and Sullivan. The Foundation is dedicated to advance cures through scientific research for pediatric-inherited eye disorders that cause blindness, while also providing a means of charitable support for affected families whose children are experiencing loss of vision as a result of their disorder. It is a 501(c) (3) and all charitable contributions are tax deductible.
We cannot do this alone. We are hoping you will support our mission and help us change the lives of many children!
With Respect and Deepest Gratitude,
David and Lisa Archetti
