D/HH Plus
Unexpected Benefits of Genetic Testing
By Kristine Flott, Nebraska H&V
Genetic testing can be an important tool in understanding a disease or medical issue. Genetic testing can ease uncertainty, stress and anxiety and help make decisions and determine treatment options. By knowing the cause of a problem, one could potentially slow down the progression of a disease or prepare for what is to come. However, there is a lot of uncertainty in genetic testing. In our case, testing ruled out some “bad” things, but we were left with years of questions. Every time a new medical issue arose, we wanted to know if it was connected to our initial diagnosis. Our kids can have a lot of labels. While labels don’t define them, knowing the cause or reason behind medical issues helps families deal with a diagnosis, assist in finding resources and get access to services or technology.
When Thomas was first identified with hearing loss at 15 months, and then later at about 10 years old with vision issues, it was hard to imagine what his life would be like. I wanted to make it as accessible and “normal” as possible.
As with most children born to hearing parents, we wanted to know why; what happened; did we do anything wrong? We eventually learned his hearing loss was genetic, due to Connexin 26. We were told that we had a 25 percent chance of having another child with a hearing loss and not much more.
At age 4-5, our ophthalmologist noticed some changes in Thomas’ eyes besides being nearsighted. It seemed like every four or five months I would get a note from the nurse at school telling me Thomas needed a vision check. Retinitis pigmentosa (“RP”) or Usher Syndrome is very common with deafness and that was ruled out when we followed up with a retina specialist, who referred us to the Mayo Clinic. The specialist at Mayo diagnosed optic atrophy. They weren’t sure what caused it, but it seemed to be stable. They ran more genetic testing, which didn’t really show anything. They gave us the option to come back for additional testing, but insurance would not cover it.
At about age 10-12, we learned Thomas has severe scoliosis. This led eventually to surgery at about age 15. At the pre-op visit for his back surgery, we found out Thomas had diabetes. Thomas did not have a normal diabetes journey, which lead to lots more questions and additional testing to confirm that he really had type 1 diabetes. I began to wonder if this was all related. Neurosensory deafness, optic atrophy, and type 1 diabetes — this combo of issues typed into an internet search, resulted in a rare neurodegenerative disease called Wolframs Syndrome (WFS). We followed up with genetic counselors at Munroe Meyer in Omaha, and they suspected the same thing, but testing ruled it out. They could have looked deeper with additional testing, but again our insurance would not cover it.
After graduating from high school, we were fortunate enough to connect with The Nebraska Commission for Blind and Visually Impaired (NCBVI), and eventually Helen Keller National Center for DeafBlind. The vocational rehabilitation program at Helen Keller in Sands Point, (Long Island), New York lasted for about eight months. Thomas prepared for a future of blindness that we were not sure would come. He studied to be an independent, mobile adult with dual sensory loss. It was an incredible experience, and we are so grateful for his time there.
In 2019, when Thomas’ vision began changing significantly again, we started to see a retina specialist at the University of Iowa. The doctors were fascinated with his eyes. Thomas was asked to participate in a study, including more genetic testing, which after almost two years showed that Thomas was likely to have some form of Wolfram syndrome (WFS). The doctors were happy to have pinpointed the area they need to and are continuing to investigate.
In the meantime, I reached out to the amazing parents on Hands & Voices’ Deaf Plus Facebook group and within a few days was talking to a mom from New Hampshire whose daughter has WFS. She referred me to a doctor in St. Louis who was studying WFS, and within a few days, I was on the phone with him. Additional DNA samples were sent to St. Louis, and we actually had an answer within a few weeks. Just as the Iowa doctors thought, Thomas did not have Wolfram, but a variant of it. Now we had a name. That doctor took time and really explained it to me. Thomas has Connexin 26, with a deletion. That deletion seemed to be the key to his diagnosis. We finally found a doctor who knew what to look for. It is the WFS variant that was causing the optic atrophy and whatever else is going on with Thomas’ eyes. We will remain in touch with the doctors in St. Louis because although Thomas doesn’t qualify for the WFS study, they have other patients with this variant and there may be a study in the future.
So, where does that leave us now? About the same place. Thomas is a smart, fully employed, 30-year-old who happens to have a dual sensory loss. He has a cochlear implant and hearing aid, and relies on sign language to communicate. He is also diabetic. His vision (legally blind) is continuing to change, and we will be following up in Iowa City this year. What labels don’t express is that he is very creative, loves movies, reading and music. Some exciting developments are on the horizon with retinal disease. In Thomas’ lifetime, there could be a surgery that may help restore some of his vision. For now, we will continue to work with the Iowa City and St. Louis doctors to study Thomas’ eyes, and any potential treatments relating to the WFS variant. He will also start the next steps to learn braille and tactile signing.
I think that genetic testing is a personal choice. It’s expensive and insurance doesn’t always cover it. In our case, this led us to pursue other avenues of getting the testing done. What if we had pursued the testing at age 10 with Mayo or at 15 with Munroe Meyer? It’s hard to say if it would have changed anything. What I do know is that we have gained a lot of knowledge on this journey, made amazing personal and professional relationships and friendships, and found some hope for the future.
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