Gina’s Story – included in a research paper written by Rachel
Rachel sent an e-mail:
“I am going to be doing a research paper on Stargardts for one of my classes. My brother’s girlfriend of 3 years and her younger sister both have Stargardts. She is 17 and has had it for a while now.”
Here is Rachel’s completed research paper:
Stargardt’s disease is a condition in which the cone cells in the eye weaken and, over time, die. Symptoms, like decreased central vision, usually surface at a somewhat young age. This usually begins sometime before the tender age of 20 (Western Australia, html#child). I chose to study Stargardt’s because my brother’s girlfriend, Gina, has this disease. She struggles with it daily and I decided I would like to know exactly what it is all about. I plan to cover the basic definition of Stargardt’s disease, what causes Stargardt’s, how the disease affects the person physically and emotionally, the accommodations needed for people with Stargardt’s, and the treatments available.
There are about 25,000 Americans suffering from Stargardt’s disease (Gene discovered, gene.htm). This makes Stargardt’s the most common form of juvenile macular degeneration. Macular degeneration is a disease in which the central vision deteriorates (Vision disorders, wleading.html). Signs of having Stargardt’s disease usually appear between the ages of five and twenty-three. Sufferers are first seen sitting close to the television and holding reading material close to their face (Stargardt’s International). They may also have trouble distinguishing colors and adjusting to light (Western Australia, html#child). Sometimes people observing the child may mistake these signs for something else. For example, in third grade, when Gina started having problems with seeing the board and reading, her teachers thought she could not read (G. Woelfel, personal communication, February 8, 2002). Obviously, they were quite wrong.
Stargardt’s disease is a condition in which the cone cells in the eye weaken and, over time, die (Western Australia, html#child). The cone cells are located in the center part of the retina (the inner layer of the back of the eye). These cones help people do things such as reading and driving (Fighting Blindness, ie/stargardt.htm). As the retina’s cones slowly deteriorate, a blackened hole begins to form in the person’s central vision. But, the person’s peripheral vision is not affected (St. Luke’s, stargardts.htm). A doctor identifies this by viewing a lesion on the retina that is surrounded by yellow-white spots with irregular shape (The Foundation, wstargardt.html). Other things used to identify this disease are visual acuity tests, color vision tests, and the Amsler grid (St. Luke’s, stargardts.htm). More involved tests like the following may also be administered: fluorescein angiography, electro-oculography, and electrovetinography. These tests show the decline of cones and the presence of the yellowish spots around the macula (Fighting Blindness, ie/stargardt.htm). But, because of the discovery of the gene responsible for Stargardt’s, doctors may be able to test for the disease by just doing a simple blood test (Gene discovered, gene.htm).
In 1997, a team of researchers discovered the gene responsible for Stargardt’s disease (the ABCR gene). The team included Dr. James Lupski (professor of pediatrics and genetics), Dr. Richard Lewis (ophthalmologist), Dr. Mark Leppert (geneticist), Dr. Michael Dean (National Cancer Institute), Dr. Rando Allikmets (Dean’s colleague), and Dr. Jeremy Nathans (molecular biologist at Johns Hopkins University) (Gene discovered, gene.htm). The ABCR gene makes a protein that’s job is to move energy to and from the retina’s photoreceptor cells. When the ABCR gene is mutated, a protein is created that cannot perform its function. Stargardt’s disease is the result (The Foundation, wstargardt.html). The ABCR gene is part of a group of transporters called the ABC transporters. It seems that transporters are involved in many other diseases as well. The gene that causes cystic fibrosis is a transporter, transporters allow some tumors to become immune to chemotherapy medications, and parasites can become immune to medicine with help from transporters (Gene discovered, gene.htm). Transporters seem to be nothing but a whole lot of trouble.
Stargardt’s disease is a hereditary autosomal recessive condition. It is passed on when both parents are carriers of the recessive trait. (The parents are not affected themselves.) The chance of such parents producing a child with Stargardt’s is one in four (Fighting Blindness, ie/stargardt.htm). There is no way for parents to be tested to see if they are carriers of the recessive gene (Stargardt’s International). It is impossible to determine who is a carrier until after an affected child has been diagnosed (Western Australia, html#child).
Along with Stargardt’s disease comes many physical limitations. Like mentioned earlier, the Stargardt’s patient’s central vision is reduced (Vision disorders, wleading.html). A blind spot forms in the central vision and widens further and further as the years progress. So, the person not only loses the ability to look straight ahead, he/she also loses the ability to read, drive, and see details (Gene discovered, gene.htm). The peripheral (side) vision and night vision remains mostly in tact. But, as the disease progresses, seeing colors becomes more difficult. Sometimes, Stargardt’s sufferers also have problems adjusting to darkness after exposure to just a moderately lit area (Stargardt’s International). Because of Stargardt’s, Gina will never be able to drive. Some of the jobs available to her are also restricted since she is not always able to work registers (G. Woelfel, personal communication, February 8, 2002). Without a doubt, Stargardt’s disease affects a person physically. But, also, Stargardt’s can play a toll on a person’s emotions.
After being diagnosed, many people feel denial, anger, and frustration in addition to depression. One thing someone could do in this situation would be to contact a Stargardt’s organization. Organizations, like Stargardt’s International, send out lists of other people around the United States that have the disease (Western Australia, html#child). This enables communication and support between the sufferers (Stargardt’s International). It also let’s them all know that they are not alone and, sometimes, that makes all the difference (Western Australia, html#child). Another thing that affects the emotional side of the person is the reactions of other people. Many people do not understand this disease and may ask the person hurtful questions like, “Why don’t you look at me?” When asked how she responds to these remarks, Gina responded with two words. “I cry.” (G. Woelfel, personal communication, February 8, 2002)
Because of the physical limitations placed on Stargardt’s patients, there must be certain accommodations made for them. Some of the things available to them are special lamps, large print books, special magnifiers, and telescopes (St. Luke’s, stargardts.htm). In school, they need preferential seating (sit in front), a person to take notes for them, extended time for standardized tests like the ACT, and a CCTV (a special machine that makes the printed words bigger in order for them to be easier to read) to help with homework. Gina’s Individualized Education Plan requires all of these things for her. She goes into another room to take tests on a CCTV. Also, during one hour of her day she goes into a special room to work with a vision specialist. Since her needs are constantly changing, Gina has a new IEP written up every year. Outside of school, Gina also receives other things to accommodate her. For college, she will receive a new computer and lab top complete with a special program called Zoom Tech, which does the same thing as a CCTV. She will also get a CCTV for her home, glare sunglasses, and special magnifying glasses. These things are crucial for her success in college (G. Woelfel, personal communication, February 8, 2002).
Currently, there is no known cure for Stargardt’s disease. But, the discovery of the ABCR gene will help profusely in the search for treatments and cures. There are already studies being conducted in Australia and overseas (Western Australia, html#child). The Foundation for Fighting Blindness is one research foundation that is committed to finding the causes, treatments, and cures for Stargardt’s disease as well as other visual diseases (The Foundation, wstargardt.html). Some patients may be able to get laser treatment for their vision. But, this treatment is only conducted to seal leaking blood vessels in the retina. It does help to reduce lost vision from the leaking vessels. However, it does not restore vision or stop the progression of Stargardt’s (St. Luke’s, stargardts.htm). Although, there is no cure for this disease at this time, there are many technological aids available (discussed above) that can help those in need (Fighting Blindness, ie/stargardt.htm).
Stargardt’s disease is definitely a huge change from what someone would call a “normal” life. But, just because a person has Stargardt’s, it does not mean the end of their lives. Gina has lived a very productive life despite the things holding her back. She has been a cheerleader all four years of high school and she also is an active member in her high school chapter of DECA. Next year, Gina will be attending Missouri Baptist to study elementary education. Her minor will be in visual education so she can go on to help children just like herself (G. Woelfel, personal communication, February 8, 2002).
In conclusion, Stargardt’s disease is a disease that forms a black hole in one’s central vision and only leaves the peripheral vision behind. The cause lies in a recessive gene that only pops up when both parents are carriers. This disease causes many hardships on the patient both physically and emotionally. Therefore, the person with Stargardt’s needs certain accommodations in order to function daily. As of today, there is no cure for this horrible disease. But, despite all the hardships they have endured, a person with Stargardt’s is still able to live a pretty normal life. One thing we can do to help people who suffer from visual impairments is to treat these people with sensitivity. Think about how many times we’ve said things like, “I saw it out of the corner of my eye” and appreciate the vision we have.
Gene discovered for Stargardt disorder (Online). Focus newsletter. www.focusnewsletter.org/gene.htm (2002, Jan. 28)
Stargardt’s disease. (Online). Fighting Blindness. www.fightingblindness.ie/stargardt.htm (2002, Jan. 28).
Stargardt’s disease. (Online). St. Luke’s Retina Institute. www.theretinasource.com/conditions/stargardts.htm (2002, Jan. 28).
Stargardt’s disease. (Online). The Foundation Fighting Blindness. www.blindness.org/html/vision_disorder/wstargardt.html (2002, Feb. 6).
Stargardt’s disease. (Online). Western Australian Retinitis Pigmentosa Foundation. members.iinet.net.au/~warpf/stargardt.html#child (2002, Jan. 30).
Thoene M.D., Jess G. ed (1995). Physicians’ guide to rare diseases. New Jersey: Dowden Publishing Company.
Vision disorders. (Online). The Foundation Fighting Blindness. www.blindness.org/html/vision_disorder/wleading.html (2002, Feb. 6)