Stargardt’s background information
Stargardt’s disease is caused by genetic mutations in the ABCA4 gene, which codes for a protein necessary in the transport and removal of vitamin A by-products from the cells involved in light reception (photoreceptors) in the eye. Waste accumulates and causes damage, eventually leading to cell death. Progression through the years causes extensive damage to the retina, resulting in severe visual impairment. There are no treatments known currently. The condition is mainly managed through reducing exposure to sunlight and using UV-blocking sunglasses. Dietary actions include avoidance of Vitamin A supplements and Vitamin A rich foods, which might speed up toxic waste build up. A normal balanced diet is suggested, with inclusion of foods containing natural Vitamin A precursors and leafy greens rich in Lutein and Zeaxanthin, two pigments found in the eye which serve antioxidant purposes and help prevent damage from oxidative stress.
How it started
Before Stargardt’s Connected there was no charity or community to help affected families looking for information. One proactive parent contacted the National Institute for Health Research (NIHR), through which a Stargardt’s day was organized and other patients with the condition were invited to attend. From there, constant effort and communication with other charities, hospitals and medical professionals helped build the foundations which allowed families to come together and create Stargardt’s Connected.
Reaching out and networking
Through their website and social media groups, a platform was offered for patients to easily contact Stargardt’s Connected and get the information they need.
The most important aspect of building this community was the ability to create a network, constantly reaching out to hospitals, charities and medical consultants. Through distribution of leaflets to these organizations and their direct action Stargardt’s patients or professionals in the area were contacted. Keeping a mailing list has proven fundamental in informing patients, institutions and doctors about recent developments and activities of the charity.
Getting certified information
The most challenging aspect of creating nutritional advice for Stargardt’s is the scarcity of clear information and research, combined with the difficulty managing misinformation among the community. Through cautious work with doctors and ophthalmologists from Moorfields Hospital, a nutrition project has been created. A discussion with these professionals helped give patients an outline of how they should regulate their vitamin A intake. It highlighted the necessities and risks associated with the diet, other compounds which could be beneficial to them, and the importance of having a healthy well-balanced diet with a positive attitude towards nutrition. The next plan for the project is creating leaflets to distribute dietary recommendations to patients, hospitals and charities so that Stargardt’s patients can receive information which has already been certified for them.
In 2018, Stargardt’s Connected organised a family day which featured a discussion session on nutrition. The meeting was led by an ophthalmologist from Moorfields Hospital who had previously run an award-winning “Eating for Eye Health” project for AMD (Age-Related Macular Degeneration) patients. One of the charity’s trustees, who works for the NIHR, contacted her as he knew of her previous successful project. The discussion session gave parents the opportunity to ask the ophthalmologist questions about diet.
Stargardt’s Connected have since been in contact with a nutrition expert specialising in Vitamin A at Penn State University, who has been advising them on the creation of a nutritional leaflet for their nutrition project. You can explore more of their nutrition project and information about Stargardts on their website.