Ava and Chloe Lamb See Paris

This page has been set up for friends of our family and their daughters Ava and Chloe. They have been diagnosed with a disease that slowly takes their vision called Stargardts. We are hoping to be able to give them a trip to Paris and Hawaii as this has been a dream the girls have had. 

In Sept./Oct. of 2017 our daughter, Ava, failed her eye test at school. She had failed previous years as well but when she was tested they determined she did not need glasses but would probably need them in the future. Ava also began showing signs of having difficulty seeing. I made an eye appointment again, assuming this would be the year she’d get glasses. What ended up being a regular eye exam turned into something more. The doctor saw an irregularity around Ava’s retina but could not tell us anymore and referred us to a retina specialist.
We went into the appointment not knowing what to expect but never imagined the news we would receive. Ava was diagnosed with Stargardt Disease. Stargardt Disease is a rare eye disease causing macular degeneration of the retina that affects 1 in 20,000. Currently there is no known cure or treatment plan. Stargardt disease is the result of a gene called ABCA4 and is usually a recessive trait. When both parents carry the ABCA4 mutation, there is a 25 percent chance their children will have Stargardt disease.

ABCA4 is essentially a piece of genetic coding which tells the body to produce a protein which blocks normal transportation of food and waste to the retina’s photoreceptor cells. Flecks of lipofuscin – waste deposits – build up in the retinal pigment epithelium (RPE), which is the nutritional support layer for the rods and cones of the retina. The RPE and the rods and cones break down in the presence of these waste deposits.

The most common symptom of Stargardt disease is variable, often slow loss of central vision in both eyes. People with the disease might notice gray, black, or hazy spots in the center of their vision, or that it takes longer than usual for their eyes to adjust when moving from light to dark environments. Their eyes may be more sensitive to bright light. Some people also develop color blindness later in the disease.
The progression of symptoms in Stargardt disease is different for each person. People with an earlier onset of disease tend to have more rapid vision loss. Vision loss may decrease slowly at first, then worsen rapidly until it levels off. Most people with Stargardt disease will end up with 20/200 vision or worse. People with Stargardt disease may also begin to lose some of their peripheral (side) vision as they get older.
As a parent, we were devastated. We didn’t know what to think or expect. Each case is different and there is no timetable. As a result of the findings in Ava, genetic testing was ordered for Eric and I. The inherited genetic trait was the gene ABCA4. They then tested Nathan and Chloe. Nathan was found to be a carrier of the gene but not have the disease. Chloe was found to also have Stargardt Disease. At this point Chloe doesn’t show signs of the progression.
Both girls have always dreamed of going to Paris and Hawaii. It’s all they’ve ever talked about. Ava even has a Paris themed room. When learning of their diagnosis, we felt an urgency to make these dreams possible. We don’t know how slow or fast the disease will progress. We have already noticed a quick decrease in Ava’s vision. We want them to see the world and make memories before their vision is fully affected. We are looking for those who would pray for us, support us, and make this dream a reality. Thank you.
Eric and Annette Lamb