Bringing it all Home for Patients with Tuberous Sclerosis
When Chris and Crystal Ditch delivered their baby boy, Mason, they burst into tears of joy. It had taken them four years to get pregnant, and they finally held the baby they had awaited for so long. But two hours before Crystal and Mason were scheduled to be discharged, doctors told them that Mason had tumors in his tiny heart. A few days later, doctors found tumors in his brain, and diagnosed him with tuberous sclerosis, a rare complex genetic disorder occurring in one out of 6,000 births that causes non-cancerous tumors to grow in multiple organs, including the brain, eyes, heart, kidneys, skin, and lungs.
The Ditches left the hospital with a referral to Tanjala Gipson, MD, at Kennedy Krieger Institute, where the new Tuberous Sclerosis Clinic is one of only 30 clinics in the United States dedicated specifically to the care of individuals affected by tuberous sclerosis and their families.
For parents, a diagnosis of tuberous sclerosis in their child can be daunting because the disease can affect so many organs and requires lifelong monitoring and treatment—and because the prognosis is unknown. Some patients have very few symptoms, while others develop severe intellectual disabilities. Up to 60 percent of children with tuberous sclerosis develop autism, and as many as 90 percent experience seizures.
Dr. Gipson, a former clinical research fellow who now heads the clinic, takes the time to explain the diagnosis to parents and answer all of their questions, offering advice, understanding, and support. “In addition to educating families about medical care for their child, we take time to learn about their interests and needs, and how we can support them.”
“Dr. Gipson has been our rock through all of this,” says Crystal. “With all the uncertainty that comes with this diagnosis, to have that peace and confidence with your doctor is a huge blessing.”
Although there is no cure for tuberous sclerosis, early diagnosis and treatment are key to optimal outcome. In particular, control of seizures can be vital in order to prevent brain damage and cognitive impairment. In Mason’s case, Dr. Gipson was able to successfully treat his seizures with medication when they first appeared, and he is now seizure-free.
“Early intervention for seizures and direct targeting with medications that attack the underlying cause of tuberous sclerosis have both led to improved outcomes in children like Mason,” says Dr. Gipson.
In many cases, lesions or heart murmurs indicating tuberous sclerosis can be detected during prenatal ultrasound, but they can also be easily overlooked. Early screening and genetic testing will be among the main goals of the new clinic.
The Tuberous Sclerosis Clinic has an interdisciplinary team of specialists in epilepsy, neurology, cardiology, ophthalmology, nephrology, and genetic counseling to handle the complex needs that can occur with this diagnosis. Patients who develop neurodevelopmental symptoms may benefit from speech, physical, and occupational therapy, behavioral intervention, and other medical or rehabilitation services.
In Mason’s case, he will continue to have his heart tumors monitored by a cardiologist. So far they are not blocking any blood flow, and are expected to shrink and disappear as his heart gets bigger. He will need a brain MRI every year to monitor the lesions in his brain, and he will need to have his kidneys and eyes monitored, possibly for the rest of his life.
In the meantime, Dr. Gipson and her team are conducting research that may offer promising new treatments. Current research efforts are aimed at finding options for treatment through clinical trials of drugs that have shown to be especially effective in patients with tuberous sclerosis. Dr. Gipson is examining whether drugs proven effective for seizures and brain tumors also have an effect on behavioral difficulties occurring with tuberous sclerosis, like self-injury and aggression.
The importance of Dr. Gipson’s research at the Tuberous Sclerosis Clinic has been recognized by the National Institutes of Health—Kennedy Krieger received the Neurological Sciences Academic Development Award, which provides three years of protected time for Dr. Gipson to continue her clinical research for children affected by tuberous sclerosis. The clinic has also been designated as a member of the National Tuberous Sclerosis Alliance.
For families like Mason’s, the Tuberous Sclerosis Clinic offers a beacon of hope. “We’re so fortunate to have this resource practically in our backyard,” says Chris. “Without it, I don’t know where Mason would be.”