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In the summer of 1999, I received a phone call from my much younger 19 year old brother. He was not one to reach out so I was slightly surprised, but anticipated any sort of a normal conversation to ensue. My parents were traveling, so he was reaching out to me to determine the name of the ophthalmologist the family worked with. He wanted to know what day our parents would be home. I tried to send him to our optometrist (who provides glasses and lower level eye exams). He stopped me with a very, very shaky voice. He didn't need glasses. "Val, there is something extremely wrong with my eyes." I proceeded to contact our parents at their resort and set up an ophthalmology appointment coinciding with their return. I was a bit concerned, but my brother did have a flair for drama. For instance, a football injury would be believed to be a ruptured spleen that would lead to complete systemic failure, or a stubbed toe must also involve torn tendons and ligaments, etc.
With everything set on course, I went back to doing what I normally did, changing diapers or something. At the time I had a 3 1/2 year old son and 1 1/2 year old daughter. They needed me to do "stuff" for them. I needed to go do whatever mundane task was at hand, for I was blissfully unaware of the events that would follow. Meanwhile, we patiently waited for my brother's doctor appointment.
Upon my brother's return from the ophthalmologist's office, I received my next shaky voiced phone call. This time it was my mother, crying. This was no ruptured spleen. This was no stubbed toe. This did not involve glasses. The problem involved the optic nerves, the necessary parts of the body that carries the visual signal to the brain. Without the optic nerves, you are blind. That is it. Game over. No more sight. She said that they were not sure yet of the cause. It was possibly a brain tumor, some type of infection, Multiple Sclerosis, or maybe even genetic. Apparently the doctor had taken quite a pause when he took the extended families' medical history and learned my grandmother's brother had lost his sight during his mid twenties.
That evening, I tucked my children in bed. In their sweet little world, sugar plums were dancing in their heads, or maybe plastic dinosaurs were fighting, who knows. I was on a mission. I was more experienced than my parents at Internet research, so I hit the computer.
There are times in your life when you can get a complete sucker punch to the soul. When you know something really bad and in your gut you know it is the truth. The first punch, with two more to come, struck me within 30 minutes of computer researching: Leber's Hereditary Optic Neuropathy commonly referred to as LHON. It was bad, really, really bad. My brother was only at the beginning stage of losing his sight, more loss was sure to come. LHON was hereditary. It was a rare type of inheritance where all of a woman's offspring would carry something known as defective mitochondrial DNA. The father plays no role in the inheritance. Anyone maternally linked could lose their eyesight, at any time.
I looked in the mirror. This defective DNA may be coursing through my cells. I looked upstairs toward my children's rooms. It may be coursing through their cells, as well as my daughter's future children, my other brother, my mother, and the brother losing more vision with each passing day. There was absolutely no treatment. As I read and researched, my heart knew, we had this.
Patients, including my brother, undergo a variety of tests while doctors attempt to diagnose this problem. His MRI's were clear, and no brain tumors were present. There were no indications of Multiple Sclerosis. All tests were coming back normal as we waited for results of DNA testing. We were told this would take quite a while to get back because, well, criminal cases had all the labs working overtime. Lovely!
Eventually, the DNA test came back and we carried the genetic mutation #14484. My mother was distraught. She had been hoping for a brain tumor. They can be cut out, bombarded with radiation, something. For this nothing could be done. My brother was informed his vision should stop deteriorating at about 6-9 months, with a wide give or take on how severe it would be. He was also told he was young and had the best variety of the three primary mutations: 11778, 3460, and 14484. He was sure to regain some sight, carrying the 14484 mutation. He just needed to wait 18 months or so, again with a wide give or take on outcome, and he might be driving again. This part of the diagnosis he latched onto. He was determined to do the best he could to get through the next 18 months, and then pick up his life again.
As I would have conversations with my mother, she would cry. She relayed that things were bad for my brother. His sight was terrible. At this, my husband took a step backwards and said, "Well, sometimes things are exaggerated." I was not sold on his theory. Soon after, I saw my brother for the first time in a couple months. I was outside on the patio. We were having a dinner get together at my parents'. I watched my brother walk on the patio. He would gently place a foot in front of him, feel for any objects or unevenness, and then take a step. His short walk to the table was one of the longest, most painful walks I have ever witnessed. I was holding in tears. Next my mother brought him a plate and drink.
My brother had always been a proper and meticulous eater. Upon arrival of the plate, he lifted it while holding it an inch from his face. He was trying to locate the food on the plate. He then felt around for a fork and proceeded to eat with his face an inch or two from the plate. When searching for a drink, he fumbled slowly around until locating it. When he was finished, 3/4 of the food was still on the plate. He thought he was done. So—that explained the 20 pounds he had lost since our last visit. My husband and I exchanged a glance. Holy shit!
At this point, my parents' and brother's journey to various neuro-ophthalmologists began. There was one about an hour away. There was one in Boston. There are probably a few other ones I don't recall. At this point in time, my information came either from the Internet or second hand through my families' visits. What we thought we knew was: Gene therapy was on the way, personally we had nothing to worry about. My kids were 4 and 2. The disease didn't strike until you were at least 17, giving an ample time-frame for the cure to arrive. I didn't need to worry about myself or my daughter because this hits males primarily. We chose to finish our family with a 3rd child, Grant, born in December of 2001. We were living in a misguided fantasyland.
Our first discovery that we may have some false information occurred when my brother hit the 18-month mark, at which time he was supposed to start getting some vision back. Weeks and months then passed. No improvement occurred. He slipped into a second round of depression that was of greater magnitude than the first. Before, he hung onto the hope of the ensuing recovery. As the known recovery window closed, so did his hope. This was permanent. There would be none of the promised driving. He would never get better. At this point I went back to my normal day to day routine, hoping for a new treatment for my brother and feeling content knowing that due to my children's ages, we would all be fine.
On an unbelievably gorgeous Saturday in May of 2002, we were roaming the fields of my oldest child, Chase's, school. Everyone was running, laughing, and giggling. They were a bunch of happy 6 year olds. Suddenly, the peace was broken by a shrilling scream following my deafening sobbing. The source of the clatter would be coming from my son, Chase. I grabbed his head and cradled him attempting to determine what had just happened. The source was a high speed impact injury to his right orbital bone, the outside of his eye socket. He was developing black eyes on both sides. His sister, 4, watched on scared over the drama. I looked at a friend, and said, "The scariest part of this is that we have this really rare eye disease and maybe this head trauma could cause him to go blind in his late teens."
Sucker punch number two. Within a week of the head injury, Chase began complaining his eyes weren't working right. Like his uncle, he had a flair for drama and he liked special attention. I told him he probably wasn't eating right and spaghetti had a lot of nutrition that would help his eyes. The next day, he said they were all better. The following day they were not working again. So I called my lifelong optometrist friend, Dr. Joanne Brilliant, and scheduled a next day appointment. I did not have much concern, as Leber's didn't happen to kids. I figured he knew his uncle had eye problems, and maybe wanted a little special attention with the new baby around.
We arrived at the appointment and proceeded to the machine that checks for nearsightedness. That test was fine. Next we went into the exam room and began the vision test. Chase told Dr. Jo, "My right eye isn't working so good." Dr. Jo started with his left eye and all was well. Then she went to the right eye. As she questioned what letter was on the wall, Chase responded with random guesses. She calmly kept enlarging the lines. After having no success with letters, Dr. Jo switched over to the largest available line for young kids, which involves airplanes, birthday cakes, etc. I am still holding onto to the attention seeking outcome. She asked what he sees and he responded again with random letters. Dr. Jo looks at Chase and says, "What if I told you it wasn't a letter?" Chase answered with a number. Immediately, heavy tears flowed from my eyes, fortunately concealed from my now one eye visioned son by the dark room. Had he been seeking attention he would have then guessed a false object. The logical thing to do if you can't actually see and you know it is not a letter, is to guess a number.
Suddenly my world imploded upon itself. I was flooded with fear, panic, disbelief, and adrenaline. My 6 year old was going blind, there is no cure, this doesn't happen to kids, and this can't be happening. Oh, but it was. I knew exactly the road we were about to travel down. Dear God No. He is only 6. This was a severe soul deep pain.
It was now our turn to walk my brother's path. You will often find a common theme among those with LHON, even with the prior genetic testing. We were sent to get MRI's, CAT scans, and blood tests. As predicted, all were normal. As we visited the neuro-ophthalmologist for the first time, my son took his first visual field tests. These are the most extremely boring tests known to mankind, searching for lights inside a white dome for an immeasurable amount of time while a person on the other end watches, via camera, as the subject slowly falls asleep. These tests are even difficult to endure even if you are an adult. Everyone I know hates them with a passion. So, I tried to make it fun. I called it the "shoot the alien test" and tried to convince my son it was like a video game. He did not buy into my theories. Yet, he did his very best and was a cooperative patient.
The tests showed severe center vision loss in his right eye and the left eye was beginning to show signs of deterioration. He would be blind in a couple months. There was a new open label trial going on with Alphagan-p, a glaucoma medication. The theory behind the study was that the medication was known to increase blood flow to the areas being affected, so maybe increased blood flow would help the cells survive.
So, at this point, we have our son's terrible field tests in our hands. We know he will soon be blind. The Dr. looks at us with a compassionate smile and says, "Oh don't worry, you have the best gene marker and he is young. He will recover his vision and be fine." If you notice, this is the same thing my brother was told. I just looked at him, thinking, "Whatever, should we go tell my brother this great news again? He will be so excited. Maybe that will make it true."
The follow up visits each contained worsening news. Chase's vision continued to deteriorate until he was counting fingers at 3 feet. The Alphagan-P did not show any success and the study was abandoned. It was time to do what many people do when diagnosed with a rare disease. Mainly, they fly to any specialist they find the name of. We flew to the Cleveland Eye center first. Then we went to see Dr. Nancy Nueman at the Emory Eye Center in Georgia. This was where our already demolished fantasyland became the badlands.
We learned many things on this visit. We discovered that Chase was not an anomaly and this disease did strike children, just not often. The bell curve runs something like age 1 to age 81. We learned there would be no gene therapy, at least not in the near future. If it came along, it would probably be in-uterus. (Please note that Bascom-Palmer is actively involved in current gene therapy research; our visit was 10 years ago.) We learned Chase would probably end up with 20/200 vision uncorrectable. We discovered the best hope potentially would come from nerve regeneration research that might be discovered in the effort to aide spinal cord injury victims. We learned that once he stabilized, his vision would remain unchanged (years later, we discovered this is another false pretense).
One particularly interesting thing we found out was that some researchers showed an interest in a supplement called Idebenone. This was not available in the United States at the time. So did we want to drive to Mexico, where you could get it, bring it across the border and give our 6 year old some Mexican produced, unregulated "supplement?" Heck no. In hindsight this may have been a good idea: Idebenone is currently showing some promise in studies.
But we could not predict that and none of the doctors we saw recommended it. This was a harsh visit. Chase ended up blind in first and second grade. Yet luckily, he could still walk around and see his books using magnification.
What does one do for someone with a month or two of vision left? What does one do for a 6 year old losing their eyesight? Well, my first visit was to the library. I checked out about 20 pictorial books of magnificent places around the world. I thought maybe my son would somehow remember a few of the photos. Everything was quite crazy at that time and he already had trouble seeing books. No looking at the Great Wall of China for him. All this effort ultimately accomplished was a $173 late fine with the library. Several years later, they were kind enough to remove the fine when I explained the circumstances to library headquarters. They understood that returning the books was not on the forefront of my mind. Chase, of course, has no memory of the books.
What else can you do? Well, every kid wants to go to Disney World. My parents offered us a timeshare week they had. A co-worker at my husband's office actually had a fantastic contact at Disney. They made a few calls and they were able to procure four 5 day passes. Considering we were facing such stressful moments, every little thing helped. One thing we had discussed on the airplane to Florida was whether Chase had ever seen a rainbow. We discovered he had not and hoped one would show itself prior to extreme vision loss. By the grace of God, Chase saw a rainbow while walking down a long street at Universal Studios. Sometimes small things in life can make you feel really good inside.
One morning I was dropping Chase and his sister off at school when the school counselor ran over to my car and informed me I needed to come in at 10 a.m. for a meeting with no explanation available. Sorry, you can't say something like that and not explain what is going on. So I sat there, blocking the carpool line of 200 cars until I was able to discover the intent of the meeting. Hey, she is the one that chose the venue. Eventually, she gave in and informed me the school's intent was not to allow Chase to return the following year. It was a private school. We did not attend "their" 10 a.m. meeting, but scheduled a 9 a.m. the next day, including the school board and Church members I had notified of the meeting. The meeting was conducted by my husband, David, a highly skilled orator, who presented the attendees with 20 page informational packets on LHON.
At the time of the meeting, Chase was maintaining A's and B's. He had not incurred a singular behavioral referral and got along well with his peers. The school was concerned about us suing them. At that moment in time, the fear of a lawsuit was valid, but not before and not after their temporary decision. The first thing I did upon arriving home from carpool was to research the American's with Disabilities Act. Given the circumstances, should they refuse him attendance; I had the power to make their lives miserable. Anyhow, the meeting went according to David's plan and Chase spent many more comfortable years there.
Excerpted from Born with a Bomb by Valerie Byrne Rudisill Copyright © 2012 by Valerie Byrne Rudisill. Excerpted by permission of AuthorHouse. All rights reserved. No part of this excerpt may be reproduced or reprinted without permission in writing from the publisher.
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