12/6/2017 0 Comments Precision Medicine Leads To a Diagnosis and Hope for a VisionAmerica Patient and Family"I didn't realize at first that his eyes were affected, but when I finally did, it just devastated me to think that he had to go through some of the same things that I had gone through," said Mrs. Markos. If any parent has a debilitating medical condition, it is almost certain that this is one of their biggest fears. Out of a desire to provide the best for their children, they fear that they may helplessly pass along one of the biggest obstacles they have ever faced. That was the case for Wayne and Carlyn Markos. Wayne is from Vicksburg, Mississippi, and, because of his achromatopsia, which was not diagnosed until adulthood, attended The Mississippi School for the Blind in Jackson, Mississippi. He later met Carlyn, married her and they had their first son, Rodney, in Jackson before moving to Long Beach, Mississippi.
Achromatopsia is a non-progressive and hereditary visual disorder which is characterized by decreased vision, light sensitivity and color blindness. It is a genetic eye disease and can make life challenging for an affected person in numerous ways. Though she attended public school growing up, Carlyn had her own vision impairment. She was diagnosed as a young girl with congenital toxoplasmosis in both eyes and persevered through many challenges of her own. When Rodney was born, it was evident that something wasn't quite right with his eyes. "We knew something was wrong with his eyes when he was six-to-eight months old," said Carlyn. "I asked my mom if she thought something was wrong and she said, 'Yes. I have been trying to wait for the right time to tell you.'" "We took him to the doctor and got a general diagnosis," continued Carlyn. "They told me at first that it was just centered on his brain and that was all I ever knew. I knew that his vision was like his dad's and I realized that early on. His dad is color blind and light sensitive, too." After receiving a general diagnosis, Rodney continued on through the public school system where he excelled. "I didn't want to send him to a school for the blind," said Carlyn. "I wanted him to go to public school like I had. His dad had gone to a school for the blind and he didn't want that for Rodney. We faced that together and decided that he would stay at home with us and go to public school. "The main thing (that was difficult) was that I knew the hard things he would face going to school," she continued. "It was hard for me because of how children... and I'm sure it was harder for him because he was born at a different time than I was... because back then people were not so cruel. By the time Rodney got there it was just worse. That was the most difficult thing for me. "Rodney became his own person in 11th grade. He had overcome all of the adversity and moved passed it," said Carlyn. After graduating high school, Rodney obtained a degree in graphic design from Mississippi College and eventually moved to Birmingham, Alabama, where he works for the Social Security office. Even as an adult, there were still huge question marks about his vision impairment, but through the field of precision medicine, those questions are beginning to be answered for Rodney and his family. The National Institute of Health (NIH) defines precision medicine as "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person." It has long been understood that diseases, much like people, are not carved out with cookie-cutters. They make us look and feel differently, they attack us in different places on our bodies and they manifest themselves in various locations at a molecular level. Up until the last few years, we could only generally locate where a disease had made its home in the body. Because of this, our treatments, out of necessity, have taken more of a shotgun approach. Since we did not know where the disease was specifically located, we have had to use whichever treatment statistically cured the highest number of patients. Thankfully, this "blanket approach" has resulted in many cured patients and numerous medical breakthroughs. We have always known that it could be better, though. It has long been assumed that, if we could figure out how, we would be able to dial in our diagnoses and pinpoint the exact location of the disease in the patient. Precision medicine is changing the medical landscape as we know it. It has certainly changed things for Rodney and his family. "Dr. Dawn DeCarlo told Rodney about a clinical trial or research study that Dr. (Rod) Nowakowski was a part of at VisionAmerica and asked if he would be interested in participating. He said he was interested and that's how we were put in touch with VisionAmerica," said Carlyn. "At the time, we had a program from the National Eye Institute," recalls Nowakowski. "They were offering free genetic testing for people with hereditary eye disorders and Dr. DeCarlo was aware of it." The genetic testing involved Rodney and both of his parents being mailed oral swabs that would be used to collect DNA samples and then returned to a laboratory for testing. The results truly show how accurate precision medicine is and paint a picture of hope for the future of medicine. "Both Rodney and his dad were confirmed to have achromatopsia," said Nowakowski. "His mom has congenital toxoplasmosis, but was also confirmed to be a carrier for achromatopsia." "Since Rodney's dad has achromatopsia and his mom is a carrier, both he and his brother had a 50 percent chance of getting the disease. His brother's vision is perfectly normal, while Rodney presents all the symptoms of achromatopsia," continued Nowakowski. One of the huge benefits of precision medicine is implied in its name. We can now locate the affected gene and also pinpoint the variation in that gene. "Rodney has a single nucleotide deletion in the CNGB3 gene," said Nowakowski. "That is one gene out of 20,000-25,000 genes we all have in one cell and one nucleotide out of about 3.2 billion we all have in the DNA in one cell. This deletion prevents the cell from making a protein needed for normal vision." Now that he has such a specific diagnosis, Rodney will be able to apply for and enroll in a clinical trial for gene therapy which will possibly correct the achromatopsia. When asked about the developing science of precision medicine and her experience with Nowakowski at VisionAmerica, Mrs. Markos says, "It made me feel good that there is research being done that can help my children and possibly my future grandchildren. I think it's great that people are willing to do these studies that benefit other people even though it might not ever affect my life outside of effecting Rodney. I think it's a great thing that's being done. It's wonderful." If you have any questions about precision medicine, please do not hesitate to reply to this email and let us know how we can assist you.
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