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Stories from patients, family, friends and Mayo Clinic staff

Genomics

March 20, 2020

Genetic Counseling Guides Informed Health Decisions

By SharingMayoClinic SharingMayoClinic

Knowledge is power. That’s Rose Boettcher’s philosophy. Genetic counseling helped this three-time cancer survivor make decisions about her health care. Her test results also have inspired her to advocate for her family’s health and well-being.

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Tags: Dr. Eyad Sufian Al-Hattab, Genetic testing, Katie Plamann, Lynch Syndrome, Mayo Clinic Health System in Eau Claire


March 16, 2020

Cameron’s New Way Forward After Rare Disease Diagnoses

By SharingMayoClinic SharingMayoClinic

Cameron Kaipainen and his parents spent years searching for explanations to his ongoing and confusing medical problems. It wasn’t until arriving at Mayo Clinic in Arizona that the true nature of Cameron’s condition was uncovered, giving the family the priceless gift of knowledge.

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Tags: 7q11.23 duplication syndrome, Clinical Genomics, Dr. Bernard Bendok, Dr. Radhika Dhamija, Schwannoma, Schwannomatosis


February 10, 2020

Careful Evaluation, Genetic Testing Offer a New Path Forward

By SharingMayoClinic SharingMayoClinic

Diagnosed with multiple sclerosis, Maureen Jessen, always wondered why the disease affected her so differently than it did others. Doctor after doctor told her that MS was likely causing her symptoms, so she believed them. Mayo Clinic specialists, however, gave Maureen new insight into her illness — one that had nothing to do with MS.

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Tags: Center for Individualized Medicine, Center for Multiple Sclerosis and Autoimmune Neurology, Clinical Genomics, Dr. Cristina Valencia Sanchez, Dr. Dean Wingerchuk, Dr. Radhika Dhamija


June 28, 2019

Genetic Test Solves Mystery of Family Bleeding Disorder

By SharingMayoClinic SharingMayoClinic

When a problem with low blood platelet counts surfaced in three generations of the Riggs family, Mayo Clinic doctors went to work to discover what was causing the disorder. Genetic testing revealed the answer, and now, armed with that information, the family is moving forward with confidence.

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Tags: Dr. Mrinal Patnaik, Genetic testing, Von Willebrand disease, Whole-exome sequencing


May 20, 2019

Genetic Testing Reveals Answers During Long Medical Odyssey

By SharingMayoClinic SharingMayoClinic

After searching nearly three decades for an explanation to his challenging medical problems, whole-exome sequencing at Mayo Clinic finally provided the information Kyle Christy needed to better understand his condition and chart a way forward.

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Tags: Center for Individualized Medicine, Dr. Radhika Dhamija, Genetic testing, Whole-exome sequencing


May 6, 2019

Genetic Testing Generates Optimism for Ovarian Cancer Treatment

By SharingMayoClinic SharingMayoClinic

When Jean Niven learned she had ovarian cancer, her desire to find a knowledgeable, compassionate physician led her to Mayo Clinic. Then, when her cancer returned, genetic information opened the door to fresh treatment options.

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Tags: breast cancer, Dr. Gerardo Colon-Otero, Dr. Tri Dinh, Gynecologic cancer, Mayo Clinic Cancer Center, Ovarian cancer care


March 4, 2019

Cochlear Implants Open a New World for Aida

By SharingMayoClinic SharingMayoClinic

When Melinda and Matt Little found out their baby girl, Aida, was deaf, they wanted to do everything they could to enable her to hear. A multidisciplinary team at Mayo Clinic helped them achieve that goal.

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Tags: Audiology team, cochlear implant, Dr. Lisa Schimmenti, Dr. Matthew Carlson, Hearing Loss, Mayo Clinic Children's Center, Newborn Intensive Care Unit, Waardenburg syndrome


February 13, 2019

Comprehensive Care Makes for a Brighter Future

By SharingMayoClinic SharingMayoClinic

When Stephanie Van Doren came to Mayo Clinic, she never expected to learn she had a genetic defect that raised her risk for a potentially fatal heart condition. But thanks to her physician’s all-inclusive approach, Stephanie and her family now have information they need to live life to the fullest.

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Tags: Clinical Genomics, Dr. Timothy Woodward, Eosinophilic esophagitis, Genetic testing


February 13, 2018

Genetic Sleuths Dig Deep to Identify a Young Boy’s Rare Condition

By SharingMayoClinic SharingMayoClinic

When Karter Malcomson was born, his care team knew it was likely he had a genetic disorder. But a clear diagnosis was elusive. That’s when the functional genomics team at Mayo Clinic’s Center for Individualized Medicine went to work. And they didn’t give up until they had an answer.

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Tags: Center for Individualized Medicine, Clinical Genomics, Dr. Charu Kaiwar, Dr. Filippo Pinto e Vairo, Dr. Margot Cousin, Dr. Nicole Boczek, Dr. Pavel Pichurin


January 8, 2018

Uncovering a Life-Saving Diagnosis for Paige

By SharingMayoClinic SharingMayoClinic

Pain made it impossible for Paige Whorton to run and play with her friends, and no one could tell her why. Then a team at Mayo Clinic took a closer look and found a rare genetic disorder. That diagnosis has given Paige and her family renewed hope for the 12-year-old’s future.

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Tags: Center for Individualized Medicine, Department of Clinical Genomics, Dr. Brendan Lanpher, Dr. Erin Conboy, Dr. Filippo Pinto e Vairo


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