Genetic testing for inherited eye conditions can remove doubt from diagnosis – which changed what four people knew about these diseases. Story from Spark_tx EyeWant2Know
Certainty can be rare in the medical profession. Doctors often treat symptoms without knowing their underlying cause. Now, health care professionals are beginning to utilize genetic testing to diagnose inherited diseases with more confidence, allowing for more informed management plans and connecting their patients to the appropriate network of support.
For Dr. Moen, the experience was transformative. It motivated him to study science and led to a career in medicine. After 12 years as an emergency physician, the deterioration of his sight no longer allowed him to practice emergency medicine, but it paved the way for a second career in advocacy as the Chief Medical Officer of the Choroideremia Research Foundation. The Foundation raises funds for research, helps provide resources, and creates a community around those living with Choroideremia.
“In 2019, we can help people with genetic diseases by providing them with unequivocal and defined molecular diagnoses,” said Dr. Traboulsi. “We have a much better idea about the clinical course of their diseases and can help them accordingly, by providing genetic counseling and referrals to medical specialists as needed. We’re no longer in the era where we used to say, ‘I’m sorry, but there’s nothing I can do to help you. Those days are gone, and there are even better days to come.
But Danelle’s journey wasn’t over. One day, she woke up completely paralyzed on the right side of her body. Her husband took her to the emergency room, and doctors diagnosed her with multiple sclerosis . A diagnosis that called her previous IRD diagnosis into question. “I found out that people with MS start losing their vision, too.” In need of answers, she finally underwent genetic testing.
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