Kearns-Sayre syndrome: Omar's Story

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Omar’s family spent years trying to find answers to his small stature and assortment of other seemingly mild symptoms. At age 12, one doctor added up the clues that confirmed a rare diagnosis. Now 17, Omar is getting treatments at Children’s Hospital that alleviate his symptoms and provide the energy he needs to reach his goals.

Young Omar smiling Omar developed normally until age 2. Suddenly, he could only handle tiny amounts of food, frequently vomited and was very small for his age. Visits to multiple doctors led to conflicting diagnoses. His mother, Jenny, trusted none of them. “We never felt like we had an answer,” she says. “Nobody would listen to me. So, we dealt with each symptom as it came up.”

One day, when Omar was 12, he collapsed at school but appeared to recover moments later. It seemed like a fainting spell, but Jenny took him to a local emergency department to be safe. His heart stopped two more times at the hospital, and he received a pacemaker.

A cardiologist treating Omar noted other minor symptoms, such as abnormal eye tracking and slightly drooping eyelids. He recalled a similar case he’d seen decades earlier and suggested Omar get tested for Kearns-Sayre syndrome. A local geneticist later confirmed the diagnosis.

An answer at last

Omar on vacation Kearns-Sayre is an extremely rare syndrome that affects the eyes, motor control and many other body symptoms. On a colleague’s recommendation, Jenny took Omar to a hospital in the city she was working. There, they met Amy Goldstein, MD, now an attending physician with the Division of Human Genetics at Children’s Hospital. “She was the only doctor we had seen who had helped us,” Jenny says. When Dr. Goldstein moved to Children's Hospital of Philadelphia (CHOP), Omar’s family transferred his care so he could keep seeing her.

Jenny and Omar noticed a difference once they came to CHOP. First, it’s convenient. Because the family travels from Florida, CHOP specialists coordinate so Omar can get all his appointments done within two to three days.

They schedule it in a logical way, so we aren’t seeing 20 doctors over two months,” says Jenny. “When you have a sick child with multiple doctors it can be overwhelming. That they work together is so helpful.

CHOP also was able to provide more individualized care for Omar. Kearns-Sayre is a progressive mitochondrial disease that presents differently in each patient. At CHOP, Omar went on a “mito cocktail” – a customized mix of vitamins and supplements to help treat his specific set of current symptoms. “Dr. Goldstein was the only doctor who put together a whole plan for my treatment in anticipation of symptoms,” Omar says.

Jenny cited several benefits to being at CHOP, including having access to clinical trials and the passion of the clinical staff. “They’re on top of the research. They’re dedicated to rare diseases even though they don’t get the glory,” says Jenny.

Now 17 and an honors student, Omar is looking forward to preparing for college. While he still faces medical challenges due to Kearns-Sayre, he feels more than equipped to meet them.

“The best thing about CHOP is that they care about rare diseases and how to make your life as normal and healthy as possible,” he says. “The staff at CHOP are very good about recognizing every patient as an individual … to make you feel special and address all of your needs."

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