Getting Diagnosed

   Auston Bailey was 8 months old when he was rushed to the hospital in the middle of the night after his mother discovered him in his crib with ice cold, purple feet.

    “Something kept telling me, ‘go check your baby,’” his mother Michele Bailey said. “I checked on him several times throughout the night and he seemed fine. Something woke me up again and when I unwrapped him, his body was warm but his feet were ice cold, purple and cracked.”

   Michele was instructed by Auston’s pediatrician Sith Sadhasivam to take Auston to the hospital immediately.

   On the way Auston began having seizures.

   “Thank God we were by the exit near Prince Georges Hospital ,” Michele said. “I immediately took the exit. When I got there I pulled up where the ambulances parked and rushed my son inside. When the emergency room nurses saw me they took (Auston) to the back right away.”

   Initially, doctors believed Auston had epilepsy, a seizure disorder.

   Later, that night Auston was taken to the Children’s National Hospital in Washington, D.C., a team of doctors were conducting a new study on children with Tuberous Sclerosis Complex (TSC).

   TSC is a rare genetic disorder that causes tumors to form on the body’s major organs, including the brain, heart, kidney, skin and other organs. This disease affects at least 50,000 people in the United States. Most people go undiagnosed due to mild symptoms but others are able to be diagnosed as infants or children.

    Auston was admitted the weekend of the study and Michele was asked if Dr. William Mcclintok and a team of interns might conduct a series of tests on him.

   Tuberous Sclerosis Clinic Nurse Coordinator Nancy Elling said there are common symptoms for TSC.

   “The most common findings of TSC are growths in the brain, kidney, seizures and specific skin lesions,” she said.

   Auston had all the symptoms and was diagnosed officially with TSC in October 2003.

   When Auston was diagnosed, it was predicted that he would not be able to walk or talk.

   He was assigned a physical and language specialist to teach him how to use sign language and move around.

   “After a while, they stopped coming to the house because he showed tremendous progress,” Michele said. “The specialist said they did not see where their services were needed anymore.”

   Elling said today no one would tell a TSC patient or parent that he would not be able to walk or talk.

   “I think it would be difficult to make that kind of prediction with today’s knowledge of the disorder and the availability of online information provided by the TSC alliance as well as the number of TSC clinics across the nation,” she said.

   Elling is referring to the diagnostic criteria.

   When Auston was diagnosed in 2002, TSC was under the 1998 diagnostic criteria which included major and minor factors that would predict different outcomes for the disorder.

   In 2012, the criteria was updated.

   There is no cure for TSC, but symptoms are managed with medication and routine imaging of the body.

   I go to the doctors every six months and they do EEGs(monitor electrical activity of the brain), EKGs (monitor the functions and activity of the heart) and CAT scans (scans of the bones, joints, and other organs) on my whole back to check my organs,” Auston, now 17, said.

MRI of the human brain effected by TSC. 

Accessed at: http://www.ajnr.org/content/20/5/907