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Community perspectives

The Power of Peace of Mind

The Power of Peace of Mind

Cheri Schoonveld, MS, licensed genetic counselor, is working with patients to uncover the exact gene mutation that causes their inherited disease, specifically an inherited retinal disease, or IRD. With more than 260 genes linked to IRDs, one thing is clear: Behind every IRD, there is a mutated gene waiting to be identified.

As a licensed genetic counselor, Cheri Schoonveld helps patients uncover the exact gene mutations that cause inherited diseases, specifically inherited retinal diseases, or IRDs. Yet when she met Kathy, an 85-year-old patient inquiring about getting tested, she was surprised.

“It’s funny, looking at her situation from the outside, you wouldn’t think she’d have testing. Some may not think testing could add much to her life or disease management at her age.”

Despite Kathy’s family history of eye disease – and many generations of relatives who were affected by it – no one had ever received a genetic diagnosis. After several years of dealing with her own vision loss, Kathy decided it was time to get tested. The results revealed that Kathy, and potentially many other members of her family, had a genetic mutation associated with the clinical diagnosis of cone-rod dystrophy (CRD).

“It’s so powerful and meaningful for her to know her disease for certain – to know it’s a mutation on her GUCA1A that caused her CRD and think, ‘Ok, this is what has affected my past relatives and what my children can look out for.’”

Helping patients like Kathy is what inspired Cheri to work in genetic testing. She began her career in a clinic and now works for GeneMattersTM, a genetic counseling telehealth service for hospitals, health networks and genetic testing labs, helping patients across the country access testing and understand their genetic diagnoses.

“I left my role at the medical institute to follow a calling in my heart to serve people beyond my local community and ensure that everyone has access to this information,” she said. In her new role, Cheri helps patients understand their test results and the variety of resources available to them. While the patients she sees are experiencing many different health conditions, she says one thing they all have in common is the desire to know their genetic diagnosis.

“With a lot of patients, I see how important a genetic diagnosis is for them to understand life,” said Cheri. “For those individuals…there’s hope that maybe there will be an option for them or their kids in the future. Who knows what the landscape will be like in five years?”

It’s powerful, as Cheri noted, for people to go from believing they have one disease to knowing for certain – perhaps for the first time – that they have a completely different diagnosis. Having a genetic diagnosis is the first step in understanding what doors are now open for them.

“From the outside, some may think, ‘Is this even going to make that much of a difference to those families or give them new information?’ But it’s the power of knowing. Now, these people can say, ‘This is why I have vision loss, this is what I can expect, and this is what I can potentially do now.’”

Since Cheri became a genetic counselor in 2005, she has seen tremendous progress in the field. In the past 15 years, genetics experts have identified more than 260 genes that have been found to contribute to inherited retinal diseases.

“The community is really beginning to appreciate how much we can learn from testing and how important it is to figure out the underlying genetic cause of a disease,” said Cheri. “With the results, people can see if they are a candidate for new research or make appropriate changes to their disease management plan.”

Thanks to the work of genetic counselors like Cheri across the country, people living with IRDs are beginning to uncover the precise gene mutation causing their inherited eye disease. These counselors play a key role in helping patients and their families understand their results and find care that’s right for them.

For Kathy, genetic testing has significantly impacted her life. A few weeks after Cheri shared the results, she reached out to see how Kathy was feeling about her genetic diagnosis. “I’m so glad I was tested,” she replied. “Those results included some of the most important information I’ve received. Now my family and I know for sure that our vision loss is actually CRD.”

If you are interested in getting more information about your IRD, consider genetic testing. Find a Provider in your area who can help you access testing. If you are a health care professional looking to confirm that your patient has an IRD with a genetic test, visit our ID YOUR IRD® program to order test kits. Through ID YOUR IRD, patients can also access genetic counseling to help themselves and their families better understand their genetic testing results, adapt their disease management plans or refer them to other healthcare professionals and advocacy or support groups.

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