Being a child’s voice

. February 1, 2013.
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Sometimes hardship is the thing that brings a family closest together. Such was the case for Matthew and Alicia Kruk and their family of Lambertville, Michigan when they learned that their three month old son, Remy, had Tuberous Sclerosis.

Tuberous Sclerosis, sometimes referred to as Tuberous Sclerosis Complex (TSC), is a multi-system genetic disorder that can produce non-malignant tumors in the kidneys, brain, heart, eyes, lungs or skin. The genes affected by the condition, TSC1 and TSC2, are responsible for creating proteins crucial in regulating cellular growth and differentiation. These proteins, hamartin and tuberin, also act to suppress the growth of tumors in the body as it develops. “It’s not so much uncommon as it is not very well understood,” says Alicia. “It’s no more uncommon than Lou Gehrig’s disease, but most of the people don’t even realize they carry the disorder until they have a child with symptoms.”

A watchful eye

The Kruks noticed strange activity in their son early on which eventually culminated in seizures. “Remy was our third child,” said Alicia. “We had had two boys previously, Brodie and Matai, so we knew he wasn’t developing as his older brothers had. At three months, we took him in to see the doctor, and they diagnosed him as having brain tumors from TSC. In his case, they found it to be just a random mutation.” With no known cure for TSC, Remy began taking several different kinds of medication to address his symptoms, primarily his Infantile Spasms which are a catastrophic form of Epilepsy. The medications took Remy from having four seizures an hour to five per day.

Still, Alicia searched to find what else could be done. After some research, she found the Tuberous Sclerosis Alliance which connects those affected by TSC and offers information about the condition itself as well as ways to get treatment. “Through TSA, I was able to find a Tuberous Sclerosis clinic in Detroit less than an hour away. We made the transition when Remy was four and a half months old,” says Alicia. “Dr. Chuemmi at the Detroit Children’s Hospital found out Remy was a candidate for a Subtotal Hemispherectomy. They removed 40 percent of his right hemisphere.”

“We made the right decision. Remy went two years without having any seizuresafter the surgery and started developing normally. When he was eight months old he would lie on the floor and kick for hours. He wouldn’t make eye contact with anyone. But when he was two and a half years old, he started walking and became a fairly typical two year-old, testing his independence and developing attitude. He’s doing phenomenally well.”

Active and thriving

Remy is now four years old and in good health, and the family is stronger than ever. “This experience has affected the fabric of who we are. It’s made us really cherish each other,” says Alicia. In looking back on their journey, Alicia is very grateful for the support she received through TSA and wants to give back to other families facing this challenge. “If we didn’t have the resources to find the doctors who knew the inner-workings of this disease, we’d never be where we are today. Finding people in my area who I could call who had been through this was so important. If there’s anything I want to tell people going through TSC it’s ‘reach out to others, find a specialist, and be a child’s voice.’ They can’t do it. They need you to do it for them.”

For more information about the Tuberous Sclerosis Alliance, visit www.tsalliance.org