By Edward Flores, September 4, 2012
I’m going to give you a little bit, a very little taste, just a glimmer of what my experience has been with a disease called… Spinocerebellar Ataxia Type 7.
What? I’m sure you probably have never heard of it. Not even my son’s neurologist had heard of it in 2005. The word brings up images of something being wrong with the spine and the brain and what the hell is ataxia? I’m often hit with those same questions from others. They are the same questions; the same thoughts I had when, in 2006, we finally received a correct diagnosis and were given the answer, Spinocerebellar Ataxia Type 7, SCA 7.
After Christopher’s, my son, diagnosis, in 2006; I would later meet a man in his 80’s, Geoff, who adopted a child, Diane, with this same disease/genetic abnormality. I met Geoff at Lighthouse for the Blind, Central Florida. I found out that Geoff was given the opportunity to adopt his daughter, Diane, because no one in her family wanted to care for her. Geoff was a friend of Diane’s grandfather and Diane’s mother. Diane’s grandfather died at the age of 54, Diane’s mother at 34, 10 years after obtaining her Bachelor’s degree. Geoff watched them both die, the same way; both died of this same disease, and now he was going to have to watch his adopted daughter struggle the same way her mother and grandfather did.
When Geoff told me how he came to adopt Diane, I still knew relatively little of what I could expect from this disease. I asked him; I’ll never forget his words “Ed, I’ve seen a lot of people die of cancer in my life; a lot. This is worse than any cancer you’ll ever see.” Geoff went on to say how he saw Diane’s grandfather and mother, withered away and deteriorate, slowly dying, until they both died of “Complications” brought on by their disease.
So what is this disease and why am I writing for help? The answer is simple, my kids. I have three children, two of whom have been diagnosed with SCA 7. The story is a little longer than that though. Shelli, my former wife and the mother of my kids, was misdiagnosed in 1998 with Multiple Sclerosis (MS). She was misdiagnosed by her neurologist, eye doctors, and even Shand’s Hospital chief neurologist. In the 90’s there just wasn’t a whole lot of genetic testing going on, at least that’s what I tell myself. Regardless, no one knows if a proper diagnosis would have helped.
When Shelli and I divorced, in 2001, she was walking and she could drive. We agreed I would care for the kids because she was having difficulties and we both thought it would be best. I would not seek any financial assistance from her for child support and we would share full custody.
In 2004, Christopher, my second son, was 13 and in 8th grade. He was normal and had as normal a childhood as other kids. He played his PlayStation games, Pokémon card, Yugioh Cards, and he started writing a fiction book. He was active, had friends, excelled in certain areas, needed help in other areas. We had worked hard to improve his handwriting, and it was a surprise to both of us when it began becoming “sloppy” again. All my kids, needed glasses, which I thought was no big deal at the time because “MS” doesn’t cause vision problems, and it isn’t supposed to be hereditary.
All the kids had vision levels of 20/40 with astigmatism in 2003/2004. By the end of 2004 Chris went to optometrist again and his vision went to 20/60. I didn’t like it, but again MS isn’t hereditary and there are no associations with vision. By May 2005 Chris was asking for new glasses again. I told him to clean his glasses, and I wasn’t getting him another pair. Then during the summer of 2005, I saw something, and it hit me.
Chris was in front of the TV eating a bowl of cereal. His hand began to shake, a tremor, as he brought the spoon to his mouth. We went to his primary care physician and started a long process that I lived once already with Shelli. In September 2005 I took Chris back to the optometrist and his vision was 20/80. He recommended an Ophthalmologist and in October 2005 Chris vision was still 20/80. The Ophthalmologist wanted Chris to be seen by a Retinal Specialist and recommended Dr. Elias Mavrofrides, to check Chris for Cone/Rod Dystrophy. I scheduled Chris for Dr. Mav, and in the meantime I also scheduled him to be seen by Dr. Anitha Rathinam, child neurologist.
I explained to Dr. Rathinam what happened to Shelli and told the doctor Chris was displaying some symptoms with the hand tremors. She checked Chris out and didn’t notice any difficulties with his gait, however she agreed that Chris needed to be monitored.
Two weeks after the initial visit to the Ophthalmologist, Chris was being seen by Dr. Mav, retinal specialist. It was two weeks, and we were now in November 2005; Christopher’s vision was now 20/100. In two weeks, it declined from 20/80 to 20/100. Dr. Mav asked us to go to his alma mater, Bascom Palmer Eye institute in Miami and we did in Dec 2005.
In Jan 2006 we went back to Dr. Mav. Chris now had an initial confirmation of the Cone/Rod Dystrophy and since Nov 2005 his vision declined to 20/200. Just 3 months since the last appointment. 20/200 is the point where the IRS qualifies you as blind and where the term “Legally Blind” comes from. Chris was also showing more of a decline with his gait and Dr. Rathinam decided to see Shelli also.
Dr. Mav and Dr. Rathinam brainstormed individually, and both concluded more was going on than just MS or Cone/Rod Dystrophy. Then they both talked and thought genetic testing should be done. Dr. Rathinam wrote the order and after a few mistakes by the hospital for not sending for the proper test; in Oct 2006 we received the diagnosis that would change our lives. It was a diagnosis which properly explained Chris and Shelli’s symptoms. This is because the only way to obtain the SCA7 gene abnormality is hereditary.
Dr. Rathinam, still didn’t have much to offer on the disease. She explained to me what she was able to find. As things turned out the most information was obtained from a Google search of SCA7 and going to the second link NCBI National Center for Biotechnology Information – http://www.ncbi.nlm.nih.gov/books/NBK1256/
She also said no cure exists and no research is being done currently.
My response to that was “Merry Christmas.”
In layman’s terms, SCA 7 is a gene abnormality. The abnormality creates a protein which destroys the cerebellum. Currently there is no way to stop the gene from creating the protein or stopping the protein from destroying the cerebellum.
Typically, the normal life span is roughly 20 years for a patient with SCA7, unless the patient is a child of a patient and that child exhibits symptoms earlier than the parent. Then, depending on how early the symptoms start, basically determines how fast progression will be. This seems to be an accurate statement with regards to Chris because his deterioration is much more aggressive than Shelli’s.
There have been advances in areas such as ALS, which is similar in some aspects of the disease, regarding brain deterioration, ataxia, etc. However, ALS seems to attack a different part of the brain, and nature is dissimilar.
Chris has declined to a point where his vision is lower than 20/640. I say lower because the last time his vision was checked was Sept 2010; his vision is worse, he can sometimes see the shadow of his hand in front of his face, depending on the hue of the lighting, most days he can’t tell whether the lights in the room are on or not. Chris is in a wheelchair fulltime and wears a “Depends” undergarment at night. He’s now 21 years old and will remain in hospice unless some treatment starts.
I took Chris to Duke University, July 19, 2011. A special thanks to my nephew’s mother, Sharon Anicetti, who is on the board of the Children’s Hospital at Duke University. We spoke to the chief neurologist about stem cells. He told us Chris didn’t qualify for any work being done at Duke. When we asked if Duke would start research on the disease I was told the following in a nutshell; In order to do research a study has to be done to see if they can even do the research; in order for a study to be done, there has to be a protocol developed by doctors so they can determine whether a study is viable; and at each step funding has to be available. I asked if the doctor was aware of whom we could go to. He basically said it would be easier for us to start our own foundation but then he stopped himself and said there were foundations such as MDA that may be of assistance.
Since July 2011, I went on medical leave from the Osceola Sheriff’s Office, where I was employed as a deputy sheriff. I retired from my career in law enforcement on December 31, 2011, so I could care for my son and work on finding a miracle.
I guess I should mention also; last year Chris was able to take one math class at Valencia College. The class was an Intermediate College Algebra course. I was with Chris in every class. Picture this; the kid can’t walk, so he sits in his wheelchair, in the back of the class with his dad and listens how to the professor explain the Algebra problems! Then this kid, Chris, who can’t see or write, has to break the problem down in his mind because he can’t write anymore either, and still has to do all the homework, labs and tests, without being able to take a single note. He got a B in the class, 89 percent.
I should also mention, I have a son older than Chris, his name is Eddie. He’s a 2nd class Petty Officer in the Navy. Eddie works in the information technology field aboard ships and on land. He’s 23 and he began exhibiting symptoms at the age of 19, while he was deployed on the USS Boone, FFG28. Eddie is now just beginning to experience more deterioration with his eyes. He is bumping into walls, etc. The Navy will allow Eddie to continue to serve until he is unable to. Emily is currently attending Florida State University. She hasn’t displayed any symptoms and Dr. Rathinam discourages any testing unless she exhibits any symptoms.
I know there are people in this world who see suffering, hear it, feel it in their hearts, and want to do something about stopping it or ease the pain of others. I know sometimes the only thing they can do is offer a positive thought or prayer. There are those people who can do more and want to help financially if they only know how it is they can help. My children need help. If you can see yourself helping them, hear the voice of your heart, reach out and help them, help others, find a cure for this disease and we will cure many more.
