Patient Stories and Testimonials

Kidney cancer is the 10^th most common cancer for men and women and makes up four percent of all new cancers. There is a lifetime risk of two percent, with an average age of diagnosis of 64. Your kidneys are essential in removing waste products and excessive fluid from the body as urine. They also produce hormones that help regulate blood pressure and control calcium metabolism. Risk factors for developing kidney cancer include smoking, obesity, high blood pressure and a family history of kidney cancer. Currently, there are no standard screening recommendations for kidney cancer, even when an individual has a family history. Therefore, genetic testing can be a powerful tool to learn if you are at increased risk for developing kidney cancer throughout your lifetime.

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When Melissa was getting ready to start a family, she wanted to know whether her child would carry the same genetic variant that she had – for a heart condition known as Long QT Syndrome. Thanks to a test called fetal magnetocardiography, Melissa was able to learn crucial information about her baby’s heart before she was even born.

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Advances in technology and medicine continue to change the way we define, detect, and treat genetic conditions. Millions of individuals are living with rare genetic conditions and up to 95% of them have limited or nonexistent FDA-approved treatments. However, there is hope on the horizon through in utero development of advanced technologies, such as gene therapy, stem cell transplant and enzyme replacement therapy. In the future, babies with genetic conditions may never experience any symptoms of their disease.

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Recent high-profile cases of sudden cardiac arrest are bringing attention to rare forms of hereditary heart disease this National Heart Month (February). However, you don’t need to be famous to learn and advocate for heart health.

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Genevie’s children have Long QT Syndrome (LQTS), a heart signaling disorder that can cause fast, chaotic heartbeats or arrhythmias, which was only discovered through genetic testing. Her youngest daughter had more severe symptoms of LQTS, and went through an extensive testing panel - which is how her husband learned he had LQTS Type 5.

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What is a diagnosis worth? For my family, learning that our daughter, Amy, has the ultra-rare disorder xeroderma pigmentosum/ trichothiodystrophy (XP/TTD) complex after two decades of searching, the value is incalculable. For an insurance company, there is a definite amount — and in 2015 that amount was $9,500.

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Her voice was sweet, but the words hurt. There was nothing she could do to take the pain away or ease the sting. After four consecutive miscarriages, this pregnancy entered the second trimester, so we felt hopeful — but the celebration was short-lived. Our doctor found anomalies during the ultrasound. Visions of pink or blue became gray. We quickly learned what an enlarged nuchal fold meant — darker gray — and then chronic villus sampling (CVS) — darker gray.

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I am reminded of a line in the famous song “Amazing Grace.” I once was lost, but now am found, was blind, but now I see. My son, James, was born with a rare genetic disorder causing clouding to both of his eyes. By all accounts, he was blind. Today, James not only has vision, but he also, at 4 years old, attends school full time, recognizes pictures in books, and navigates environments comfortably. I directly attribute his success to the selfless service and expertise of Hannah Scanga.

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Some might say our story is tragic, worrisome, and full of heartache and loss. But thanks be to God, who in His perfect timing placed in our lives a brilliant medical team and genetic counselor, Benjamin M. Helm. Because of Ben, we can say our story is one of life, miracles, love, and hope.

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I remember it all so vividly: Our conscientious and compassionate geneticists had given us an ultra-rare diagnosis: hereditary spastic paraplegia type 47 (SPG47). There were nine others diagnosed in the world that they knew of at that time, and no one was researching treatment.

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