April 7, 2007
It is an illness that is often confused with epilepsy. It can be inherited but is a disease for which there is currently no cure. Its effects on a person range from mild to severe. For some, it is discovered in childhood; but for others, the diagnosis comes when they are adults.
It is called Tuberous Sclerosis Complex (TSC), or Tuberous Sclerosis, and is characterized by benign tumors in major organs.
Elizabeth Hallauer and Mark Martin are co-chairs of the Tuberous Sclerosis Alliance of Middle Tennessee, which provides information and support for patients who suffer from the condition and their families. Both Martin’s and Hallauer’s families have been impacted by the condition.
“We are helping to bring awareness, networking, bring some light and some needed resources, and to one day find a cure (for TS),” Mark Martin said.
Martin was recognized as one of four Volunteers of the Year nationwide by the Tuberous Sclerosis Alliance during an annual board meeting in Washington, D.C., last month. He has been able to work with families who have adults or children with the disease while living in Connecticut. He continues to be a resource for others since moving to Tennessee last August.
During the visit to the nation’s capital, Mark and Elizabeth met with health aides of several U.S. representatives and senators, in hopes of increasing funding for research to find a cure for Tuberous Sclerosis.
‘I knew … something was wrong’
When Gabriel, Elizabeth and Walter Hallauer’s son, was about 5 months old, Elizabeth noticed something different about her son.
“He would look like he would get scared and his arms and legs would tighten up,” Elizabeth said. “I didn’t think much about it. At 6 months old, he started doing it more and more and would go to sleep. I knew in my gut something was wrong.”
Her youngest son’s pediatrician advised her to video her son when he was in the middle of one of these episodes and take the video to Vanderbilt Children’s Hospital.
An emergency room doctor got to see one of the episodes live, and so did a neurologist, thanks to a video from the Murfreesboro family.
“(Gabriel) was having between 30 and 60 seizures a day,” said Elizabeth. “(The neurologist) saw some white marks on Gabriel’s body that look like birthmarks and diagnosed it as childhood epilepsy.”
But the doctor warned it was possible that Gabriel had tuberous sclerosis.
The next day the 6-month-old child was again having seizures. The parents took him back to Nashville. More tests confirmed he had the disorder.
TSC is a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. According to the Tuberous Sclerosis Alliance, the tumors resulting from the disorder are non-cancerous, but may still cause problems.
‘I gave it to him’
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Mark Martin, 48, of Murfreesboro, discovered five years ago that both he and his son Alex had Tuberous Sclerosis.
“He was 1 year old when he started having seizures,” Mark Martin said. “Two weeks after (Alex) was diagnosed, I had a blood clot. That’s when we found out I had Tuberous Sclerosis. I gave it to him.”
The disease can be inherited or can be caused by a spontaneous genetic mutation.
“I had the condition all my life,” Mark Martin said. “They told me I had epilepsy.”
His father had cysts all over his kidneys and died from complications due to renal failure at age 68. Mark Martin said he inherited the disease from his father.
Martin’s seizures began at age 12.
“I had 24 grand mal seizures (a type of seizure) in a row when they began,” he said. “As I got older, they became less frequent. But I had a real bad one in 1993 and that affected my short-term memory and put me on Social Security disability.”
He still suffers from memory loss and still has tubers (flat, benign tumors) in the brain. So does his son, who is now 7. Mark Martin has not had a seizure since around 2000 and is not on any medication, but he does have cysts on his kidneys.
“I have to have yearly MRIs and renal ultrasounds,” he said. “(Alex) has autism, is non-verbal and has sensory integration disorder.”
Nadia Martin said her son is currently on no medication, but does receive occupational and speech therapy once a week. Alex is a first-grader at Scales Elementary School.
“My husband sometimes fumbles a word,” Nadia said. “He gets nervous sometimes when he can’t think of a word.”
‘One day at a time’
Now 15 months old, Gabriel Hallauer still has tubers in his heart, but they have begun to shrink.
“He has a cluster of cells in his left eye and has eczema (inflammation of the upper layers of the skin),” said his mother. “Gabriel has (a tumor) that is in the base of his brain and neck. If it grows , it will cause him to get very sick and to have seizures and (the tumors) will have to come out.”
She has been told Gabriel’s kidneys must be monitored beginning at age 2.
Gabriel is on multiple medications to control his infantile seizures. One of the drugs is not FDA-approved and is shipped to the family from Canada. An FDA-approved drug was added after a “massive” seizure in the last four or five weeks. As Gabriel grows, the type of seizures will change and a different series of medicines will be required, his mother said.
The illness has taken its toll on the child in other ways.
“He was developmentally delayed by six months when we started therapies at 7 months old,” Elizabeth said.
He currently receives occupational therapy for fine motor skills and physical therapy, and he is showing improvement.
“We just take it one day at a time,” she said. “That’s all you can do.”
Mark Martin is grateful that a children’s TS clinic has opened at Vanderbilt University Medical Center, but would like to see an adult clinic open in Nashville for TS patients, as well. The Rutherford County Adult Activity Center employee was asked what his hopes were for himself and his son.
“To stay ahead of this disorder, to get the best care we can and to have the best quality of life that Alex can have,” he said.
TUBEROUS SCLEROSIS COMPLEX: WHAT TO KNOW
What it is: Tuberous Sclerosis Complex (TSC) or Tuberous Sclerosis, is a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. The tumors resulting from Tuberous Sclerosis are non-cancerous, but may still cause problems. Very rarely (less than 2 percent), individuals with TSC develop malignant (cancerous) kidney tumors.
What causes it: TSC is transmitted either through genetic inheritance or as a spontaneous genetic mutation. Children have a 50 percent chance of inheriting TSC if one of their parents has the condition.
How is it diagnosed: It is currently diagnosed after the following tests are performed: a brain MRI or CT scan, renal ultrasound, echocardiogram of the heart, EKG, eye exam and a Wood’s Lamp evaluation of the skin.
Prevalence: The incidence of TSC is estimated to be 1 in 6,000 live births. Nearly 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States.
How it first appears: It is often first recognized in children who have two neurological symptoms — epileptic seizures and/or varying degrees of mental handicap. TSC is a genetic condition characterized by lesions of the skin and central nervous system, tumor growth and seizures. Clinical symptoms vary greatly and may often not appear until later in life. There is no way to predict how severely or mildly an individual may be affected by TSC. Some people with TSC experience developmental delay, mental retardation and autism. But others are so mildly affected it often goes undiagnosed. Many are living independent, healthy lives and have challenging professions.
Normal life expectancy: Most people with TSC will live a normal life span. There can be complications in some organs such as the kidneys and brain that can lead to severe difficulties and even death if left untreated. To reduce these dangers, a person with TSC should be monitored throughout his or her life by their physician for potential complications.
Is there a cure? There is no cure. Early intervention is helping to overcome developmental delays. Advancements in research are bringing new and improved therapeutic options. Surgery to remove tumors or stop tumor growth is helping to preserve the function of affected organs. Technology is pinpointing the exact portions of the brain stimulating seizures and creating new therapies to help control seizures.
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