Local families share same fight: Tuberous Sclerosis

By Jennifer Gray

Summers Family

Stuart, Thomas, Anna Lauren, Forrest, and Chris Summers. Photo by the Summers family.

Carole Pitard is excited.  She has recently returned to Mountain Brook from Washington DC, where she was lobbying for funding for a cause that she is not only passionate about but is also very personal.  Carole works tirelessly to raise funds and awareness for a disorder known as Tuberous Sclerosis (TS).

Tuberous Sclerosis causes tumors to form in your body such as your brain, eyes, kidneys, liver, lungs and skin.  It causes seizures in 90 percent of TS patients, is the second leading genetic cause of autism and can cause learning and behavioral disorders.  It is estimated that TS occurs in 1 out of 6,000 live births.  Some people have it so mild that they do not realize that they have TS, and some people are affected so severely that they require 24/7 care.

Pitard’s two youngest children have TS. But her family is one of the lucky ones.   “You would never pick my children out of a crowd for something being wrong with them,” she said.   “Even though we deal with brain tumors and seizures, they are thankfully under control due to medications.”

As scary as this disorder is, families living in Birmingham are incredibly lucky.  UAB has one of the few TS clinics in the country.  Opened in April of 2007, the clinic is truly a lifeline for families struggling with TS.

Stuart and Chris Summers, who live near English Village, also have a child with Tuberous Sclerosis.  The Summers’ son Thomas was born March 2010.   At five weeks, Thomas started exhibiting seizures, and the family’s pediatrician sent them to Children’s Hospital for more tests. Thomas was immediately admitted to Children’s.  “Thomas had to be put on heavier and heavier medication to try and control the extreme seizures that he was experiencing on the left side of his brain,” Stuart Summers said.  Ultimately, Thomas underwent a radical procedure called a hemispherectomy.

“Doctors partially removed the left side of his brain and disconnected what was left so that it no longer worked,” Summers said.  Although Thomas initially lost much use of the right side of his body, he is expected to get a portion of that back through physical therapy.

During all of this, a physician suggested to the Summers that Thomas might have TS, and he was diagnosed.  “The more we learned about TS, the more we found out it would be a lifelong battle,” Summers said.  They were fortunate to find the TS Clinic at UAB and also to find that no one else in their family has TS.
“Thomas gives us so much joy and is doing very well,” Summers said.   “He is using his right arm a bit and crawling a little and sitting up, so it is very encouraging. We hope he has had his one event and from here on out it is smooth sailing, but we don’t know.”

Another blessing in the fight to find a cure for TS is the FDA approval of a new drug called Afinitor that is shown to reduce brain tumors by 50 percent and shows that no additional tumors form while on the drug.  Seizures also ceased while patients were on the drug.  “This is the first drug approved for Tuberous Sclerosis,” Pitard said.  “It will help unlock mysteries of cancer and epilepsy and advance autism research.”

The Summers are also very thankful for the efforts of the Tuberous Sclerosis Alliance.  “Their efforts were very instrumental in getting this drug brought to market,” Summers said.  “We are pleased this has happened before Thomas even needs it.  We hope it is just the beginning of many more breakthroughs.”

On April 16, the Greater Alabama TS Community Alliance will be having their fourth annual Step Forward to Cure Tuberous Sclerosis Walk on the field in front of the Emmet O’Neal Library.  They have raised almost $200,000 for TS research thus far.  “It is a fun filled morning with a 5K walk through the scenic neighborhoods, silent auction, Kid’s Korner and refreshments,” Pitard said.

“We average over 200 participants.  TS families from all over Alabama (and Mississippi) and our Mountain Brook community come for this event.”
To learn more about this event, visit www.stepforwardtocuretsc.org.

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One response to “Local families share same fight: Tuberous Sclerosis

  1. Allison Thomas

    I consider myself very lucky to know the Summers family. They are 2 of the most exceptional parents I know!!

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