Brenna Thiem
Dr. Childs
English 1301
31 March 2013 Hereditary blindness and a mother’s dilemma People are mistaken who believe that children are exempt from genetic mutation manifesting at any stage in their life, not all mutations show up at birth. My husband, John and I have now been married for eighteen years; and are blessed with three children all of which have been healthy. Could our lives be impacted by a disease that is listed as “rare” by the National Institutes of Health? A disease that affects 200,000 people in the US population seemed so far from a reality, this life changing event has and continues to shape who I am. This life event is our journey in receiving, learning, coping, and making the choice to accentuate the positive of a form of hereditary blindness; all while being faced with yet another dilemma. It was the spring of 2009, one March afternoon and we anxiously waited for Georgi’s Ophthalmology appointment. Up to this point I was not overly worried that she was sitting 8 inches at best away from the television or sitting in Grant’s car seat to see the television in the car until the resident picked up on something during her exam. I convinced myself as my palms started to sweat and I could feel my heart racing that he was just a resident and in training. My husband isn’t in the medical profession unlike me, so he wasn’t picking up on the non-verbal communication. I didn’t want to alarm him so I kept my thoughts to myself. I was having an internal conversation with myself rationalizing that Georgi has been under the care of Dr. Gunderson since she was four years old. If there are any clinical changes they should be easy to identify by reviewing her medical record. The resident went out of the room and I could not stop looking at Georgi’s beautiful brown eyes as she was sitting in this monstrous brown chair. She looks at me and says, “mom are we still going for ice-cream?” I reassured her that we would soon be off for ice-cream. As I was answering her I could hear Dr. Gunderson in the hallway with discussing the case, our case with the resident. No, it couldn’t be us, maybe it was another patient. All I could hear is the resident explaining that he identified what appears to be a “bullseye” appearance to her macula. I can vividly remember John turning the pages to a Tide fishing magazine, it was infuriated me. All I can think is how is he able to be so unaware of what is going on? I wasn’t there for long, alone that is. Soon walks in Dr. Gunderson and she hugs me and says can we go outside and talk? There John and I stood in the hallway, crowded with patients, and I keep remembering hearing phones ringing, people talking, and all I can remember is Dr. Gunderson saying I just want to make sure, we need to get an expert opinion. The rest of the day was a blur, what did all of this mean? Dr. Gunderson never told us the expected diagnosis, all she wrote on the consult order was to evaluate for bullseye in macular. Our first goal was to get her seen in Houston with a specialist. With some persistence I was successful in getting Georgi and appointment with the Cullen Eye Center in Houston, Texas within days of our first appointment. She was going to see Dr. Richard Lewis, distinguished Professor of Molecular and Human Genetics. Dr. Lewis graduated from Harvard in 1961, completed Medical School in 1969, and received his masters in Ophthalmology in 1974. He is also on the council for the National Institute of Health and an absent board member with the Foundation Fighting Blindness. I had done my research and was confident he would provide a diagnosis or clarification. There was no history of blindness in our family. As we were sitting in the waiting room I remember looking over at a little boy who couldn’t be more than eight and he was walking with a white cane. How many times had I passed someone like this before? Why does it take something happening to your own child to make you see life through a different lens? I couldn’t help but worry is that what will happen to Georgi, and then I would quickly pull my thoughts together and convince myself to stop thinking negative. As we sit and wait for Dr. Lewis in he walks singing “Georgi Girl” and from that moment on I trusted him and never looked back or questioned his recommendations. He took one look after she was dilated confirmed the “bullseye.” His clinical diagnosis was Stargardt but the only way to know for sure was with Genetic testing. He was much different than Dr. Gunderson, he didn’t speak to us he primarily spoke to Goergi. He explained to Georgi that her macula which he was showing her on his hand held eye she was holding that her macula was similar to a bullseye where there is an island of spared vision surrounded by a donut shape blurry/blind spot. Sometimes the disease will progress where there is a solid area of blind spot, which does not spare the very center. He explained that it is going to be her job to do two things. She must wear sunglasses outside and learn how to move those blind spots. He reassured me that it is like having a newborn you will grow together. Dr. Lewis explained to us that it is your job to tell her and others she can until she learns to do it for herself. He has a saying on his wall, and I don’t remember it word verbatim but the meaning of it was if you tell her she can’t, she won’t if we show her she can, then she will. He supported the genetic testing for documentation purposes which places Georgi in a national database. This information is used for research and clinical trials.

After we left the appointment I kept reflecting on what Dr. Lewis said about being her advocate, teaching her self advocacy and encouraging even pushing her. I know that is the most logical approach but it didn’t take away the clinical diagnosis and the urge to confirm and have a definitive answer. John was content with the clinical diagnosis not me, I felt this burning urgency to know, I needed to have the answer in black and white. During the next few weeks, we arranged an appointment with a Pediatric Geneticist who I previously worked with for a consultation. We explained that our goal was to have Georgi tested for Stargardt Disease. Dr. Champaign explained the pedigree of genetics which is very complicated to comprehend when it is about your child. She explained that Stargardt Disease is an inherited, or genetic, disease; that is caused by a mutation of a gene. Most Stargardt patients have one copy of the mutated gene from each parent; this mutation is in a gene called ABCA4 which is responsible for seventy-five percent of the cases. The gene abnormality leads to an accumulation of a material called lipofuscin that may be toxic to the retinal pigment epithelium, the cells needed to sustain vision. After she explained that receiving genetic confirmation will not deliver a cure or treatment today, and as long as we understood that she would order the test. We left Dr. Champaign and offered Georgi anything she wanted, and all she could ask for was a stool that was high enough so she could see the television and light enough she could move it around. It broke my heart when I thought back of her sitting on her bedroom furniture to see the television and I would tell her to get down, she could see just fine. If there is one lesson anyone takes from this is you don’t know what or how another person see nor should we ever assume what that person can or cannot see. Over the next few months, life was very difficult, as we all know things don’t stop because you’re hurting. Responsibilities don’t go away because I feel like I can’t breathe when I think about it. I had to go to work, be strong and move forward. We have two other children that deserve present parents and this will affect them as well, more than we will ever understand. The day came when the results were in; Dr. Champaign called and asked if I could walk over to her office. As I walked down the long halls of the hospital I already new the answer, and I kept telling myself be strong God has a plan Brenna have faith. I think that was the lowest point during this journey so far was the moment I had the results in my hands. It forever changed who I am inside and how I view life. I felt like I was at a fork in the road. I decided I am not burying my head in the sand to the fact that Georgi may go legally blind only God knows and I have to trust and have faith in him. It is my job to prepare her to live learning to use necessary devices and technology to reach all her goals and dreams. But I truly believe there will be a cure in her lifetime before she is sixteen years old, or at least a treatment, I declare and demand it! Our family has received, learned and started to cope with Stargardt Disease. I am making a choice to accentuate the positive from this disease, raise awareness and be part of the cure. I am a mom with a mission so we joined a much larger family, the Foundation Fighting Blindness. We got involved in the Houston chapter, and before long Georgi was named the first ever youth chapter leader for the vision walk. I was the adult chair and we raised over thirty thousand dollars for Georgi’s Stargardt Stars. The money raised will advance research. The Foundation Fighting Blindness is a national non-profit organization driving research that will lead to preventions, treatments and cures. Since 1971, the Foundation has raised over $450 million as the leading non-governmental funder of retinal research. The Foundation also provides support, education, and resources to affected individuals and their families in communities across the country.

Every minute a child goes blind. Thirty-seven million people in the world are blind. When Georgi looks back on her eye condition I want her to know that we did all we could do. I never want to wonder did we try hard enough or do our part in raise money and awareness. John and I will be able to look at her and know we did everything we could do. I will be on a crusade for her until she is cured. I will continue to support research and boost awareness any way I can. The Foundation is like family, and I’ve learned so much that I can share with other willing to hit the ground running to make a difference. What I didn’t know is that I would be seeking a cure for not only Georgi, but my youngest son, Grant who is eight years old. I have faith that with God’s will a cure is most definitely in sight!