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My Giving Helps - The MGH Fund + United Way

Offering Exceptional Care to Exceptional Patients

Jacob is an energetic 6-year-old boy who loves playing his drum set and electronic keyboard. He routinely begs his mom to take him to the donut shop across the street from their home.

He also has a rare genetic disorder – Tuberous Sclerosis Complex (TSC) – that was diagnosed at Mass General when he was an infant. The disease can cause mostly benign tumors to grow on any organ in the body, including the brain, skin, heart, lungs and eyes, and will affect him throughout his life.

“When Jacob was first diagnosed with TSC, I didn’t know what to think,” says his mother, Tatiana. “He was a baby. I noticed white patches on his skin, but he still seemed healthy. I couldn’t imagine it was serious.”

A cardiac ultrasound performed on Jacob when he was 3 months old revealed two tumors in his heart; an MRI showed benign brain tumors. With a diagnosis of TSC, it was clear that Jacob had come to the right hospital. He needed the unique level of expertise available at the Carol and James Herscot Center for Children and Adults with Tuberous Sclerosis Complex, an MGH Fund-supported program that is one of only a few of its kind in the entire world. Make your gift today to give hope to other patients with rare diseases.

Jacob

Herscot Center director Elizabeth Thiele, MD, PhD, a renowned TSC expert, took charge of Jacob’s care. “TSC varies from person to person,” says Dr. Thiele. “And the symptoms can begin to occur very soon after birth. Given the complexity and the unpredictability of TSC, it is important for children such as Jacob to be diagnosed early.” In fact, Jacob was so young at the time of his diagnosis that he had yet to develop the most common symptom of TSC – infantile spasms, a serious form of seizure.

Fortunately, Dr. Thiele had taught Tatiana to watch for the signs of infantile spasm. Tatiana noticed that Jacob was having a spasm when he was 6 months old. Gradually they increased to several times a day, and Dr. Thiele prescribed an antiepileptic medication. After a short period of time, Jacob’s seizures subsided. “The majority of people with TSC experience seizures,” says Dr. Thiele. “In the long- term, TSC has been shown to result in learning disabilities and behavioral and mental health problems, including attention deficit disorder and depression.”

Thanks to vital support from the MGH Fund, the Herscot Center is able to provide TSC patients with the specific combination of lifelong medical, psychological and social services they require and have easy access to a multidisciplinary team.

Your gift to the MGH Fund ensures that whatever challenges Jacob and others like him may face, Mass General will be here to help him as he grows. Please consider the impact your contribution can have in helping Mass General meet health care’s most pressing challenges as we continue to work together to save lives every day.

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