The Common Genetic Disorder You've Never Heard of
“We’ll give everything but up.” Words families facing tuberous sclerosis complex live by.
At least two children born each day will have tuberous sclerosis complex (TSC). Generally diagnosed during childhood, TSC causes benign tumors to form throughout the body, including in the brain, eyes, skin, heart, kidneys and other vital organs. Although relatively unknown, it is the primary genetic cause of epilepsy and autism spectrum disorder and is just as common as Lou Gehrig’s disease (ALS) or cystic fibrosis.
Although some individuals inherit the disorder from a parent with TSC, most cases occur as sporadic cases due to new spontaneous mutations.
Many infants with TSC are now diagnosed before or soon after birth thanks to prenatal identification of heart rhabdomynomas, or non-cancerous tumors, during routine ultrasound testing.
For Julia and Frank Wentz, their son’s diagnosis came during the third-trimester of pregnancy. “The doctor noticed an abnormal mass on our son’s heart,” said Julia Wentz.
That was the moment the Wentz family was introduced to TSC.
“Our world changed,” she said. “My life took on a new meaning. As a family, we were determined to defeat TSC and provide the best life for our son, Gabriel.”
A follow-up fetal echocardiogram confirmed he had rhabdomyomas that consumed nearly the entire left ventricle on his heart. “The doctor said the tumors were the largest he had seen in more than 20 years.”
After Gabriel was born additional MRI’s revealed he also had tumors in his brain, which would cause infantile seizures.
Seizures occur in 85% of people with TSC. It affects each individual differently; some have very mild, unnoticeable symptoms, while others are severely impacted.
Doctors initially gave Gabriel four months to live, but with exceptional care and attention, he’s defying odds. “Doctors call him their miracle baby,” she said.
Now at three years old, Gabriel is a big brother and continues to thrive as he continues to live with TSC.
There is no cure for TSC, but research into TSC may lead to better understanding of other diseases, like cancer, autism and epilepsy.
May 15 is TSC Global Awareness Day; it’s a day people around the world work together to spread awareness about this rare disease and share their stories of hope for the future.
To learn more about the Wentz family, read their patient story.
About the author:
Marissa Villasenor is a public relations specialist in the Office of Public Affairs. You can follow her on Twitter at @Marivillasenor.comments powered by Disqus