Tuberous Sclerosis — Disease With A Million Faces

Circa 2005

Judy Edwards glanced at her baby, seated in a highchair next to her at the table. He wasn’t crying— surprising, given his slight fever when she picked him up from daycare. The 15-month-old was pleasantly quiet, just chewing on a piece of pepperoni. Her only child, Drew was generally a happy baby. His deep brown eyes shone with joy and his short arms loved to give hugs. He was precious to her—irreplaceable.

She continued to chat with the friend she was dining with. When she looked at Drew again, he was still methodically chewing that pepperoni and his eyes were sort of glassy. Edwards called her son’s name and he didn’t even blink. Something was not right.

Picking her child up in a panic, she left money for the bill and rushed out the door of the restaurant. The closest hospital was at least half an hour away, but she noticed a walk-in clinic across the street. “They said they didn’t see children under 18 months, but I pretty much wasn’t going to leave until someone looked at him,” she recalls. When a physician finally came out, he had Drew flown to the nearest children’s hospital, where the doctors diagnosed a febrile seizure (caused by a high temperature). They gave the baby Valium to prevent further seizures, put him in Intensive Care, and told Edwards they would watch Drew overnight to make sure his responses were normal and no damage was done. The next day everything checked out, so they sent Drew home.

Then it happened again.

Two weeks later, with Drew’s father out of town, Edwards left Drew at his aunt’s house for the day. Drew woke up from his nap with a fever, so his aunt gave him a bath to cool him down. Then he had another seizure, this time with violent shaking. It was unusually long for a febrile seizure, but the doctors again attributed it to a fever and diagnosed Drew with pneumonia. Just to be safe, they put him on Phenobarbital—an anti-seizure medication—for a year and a half, on top of medicine for juvenile rheumatoid arthritis, the presumed cause of a red rash developing on his face and lower back, and the medicine he had already taken since two months of age for an abnormal heart rhythm..

It wasn’t until 12 years later that Drew’s many illnesses were tied together and his family found out what had really caused the seizures. And the heart arrhythmia. And the red bumps now on his face, back, shoulder and scalp. Drew had tuberous sclerosis.

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Still, no one could tell the Edwards family what that meant. Symptoms of the disease vary greatly from person to person, and while it’s not an uncommon disorder, many people—including some doctors—have never heard of it. It took visits to specialists and rounds of battling well-meaning but misinformed pediatricians before Drew and his family understood the diagnosis.

Tuberous sclerosis complex (TS), a genetic disorder present in an estimated 50,000 Americans and 1 million people worldwide, causes benign tumors (non-cancerous growths) in a variety of the body’s organs, such as the skin, kidney, brain, lung, heart, eyes and teeth. Sometimes the associated symptoms are mild, and some people reach adulthood before they find out they have TS. Other times the symptoms are more severe, ranging from seizures to autism to kidney failure. Problems frequently occur if the size or location of the tumor interferes with the organ’s normal functioning or causes bleeding. A correlation also exists between TS and behavior problems—children with TS tend to be more aggressive and are more prone to attention-deficit disorder, bipolar disorder, autism, depression, obsessivecompulsive disorder and schizophrenia—but researchers aren’t sure how this increased risk interacts with other causes of these conditions.

Cardiac rhabdomyomas (tumors on the heart) are present in approximately half of babies born with tuberous sclerosis. Sometimes corrective surgery is necessary; more often, the tumors shrink or disappear with age. On the other hand, lung tumors tend to be non-existent at birth and childhood and develop in the 30s. Lymphangioleiomyomatosis (LAM) is the most common lung tumor condition and is found primarily in women. Beginning lung tumors can be caught by a CT scan and should be monitored closely in case a lung transplant is necessary.

Three-year-old Brenna was diagnosed with tuberous sclerosis at six months because her weight gain was abnormal and her abdomen was disproportionately large—a result of polycystic kidneys. Such kidney manifestations of TS are especially dangerous because of the kidney’s role in regulating blood pressure. Additionally, while most TS manifestations involve noncancerous changes, kidney and brain conditions must be observed closely because over time some TS-related problems in these organs can become malignant cancers. Yvonne Kahlen, Brenna’s mom and support coordinator of the Tuberous Sclerosis Alliance of Orange County, California, says Brenna will probably need a kidney transplant before she reaches adulthood.

Growths on the eyes and optical nerves and bumps on the skin are the least serious of all TS manifestations. Blindness because of TS is extremely rare; retinal tumors and abnormal pigmentation in the iris are generally harmless. Likewise, people with tuberous sclerosis often develop skin lesions, which are the most consistently noticeable characteristic. Red bumps on the face and scalp, fibrous growths on the toenails, white ash-leaf-shaped marks on the limbs or abdomen, and a Shagreen patch—an irregular,scaly patch on the lower back—are all common traits of tuberous sclerosis. Although the lesions are almost always harmless, laser surgery can improve their cosmetic appearance, at least temporarily.

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The most common neurologic symptom, observed in about 85 percent of people who have TS, is seizure activity, caused by tubers, or calcified root-like growths, on the cortex of the brain. Often seizures come several times a day. Early diagnosis and treatment are vital because repeated seizures pose the risk of brain damage. Young children, especially, may lose skills they’ve developed, such as reading or talking.

Although early diagnosis is important, accurate information from doctors is not always available. Tuberous sclerosis is more common than Lou Gehrig’s disease, cystic fibrosis or hemophilia, with two babies born with the disease daily. But doctors just don’t always recognize it, and those who do often don’t have up-to-date information about prognosis. Part of the problem may be the lack of symptoms in people with mild tuberous sclerosis; some of the 50,000 Americans with the disease didn’t learn they had it until later in life, so doctors have worked less with TS than with more consistently severe diseases. Also, because symptoms are so varied, seemingly unrelated illnesses can be treated individually without first realizing TS is the root problem. For the same reason, doctors who do recognize TS aren’t always able to correctly translate what the diagnosis means.

A dermatologist was the first to associate tuberous sclerosis with Drew’s skin condition. But he didn’t know the condition well enough to explain the repercussions. Mrs. Edwards remembers, “He was a gruff, unkind, nobedside-manner guy whom I was furious with before I left, but he did apparently know his trade. He was the first to mention tuberous sclerosis, but he did so while standing over my 13-year-old and talking about how I had better get this looked into because of the mental illness it caused. He was completely insensitive to the fact that this was a child at an impressionable age whom he was making feel like he was challenged.”

After Brenna’s TS was identified, doctors who didn’t know much about the disease argued with her mother about whether the baby’s enlarged kidneys were at all related to the condition, when in fact the polycystic kidneys were the symptom that originally clued her pediatrician in to the presence of TS.

Joanie Stocker was diagnosed with TS at age 10. “I feel like I educate my doctors,” she says, mentioning that one doctor insisted she had lupus, despite negative test results in her file proving otherwise. Although the physician who discovered her TS warned her parents of possible developmental delays, Stocker has grown up free of any such problems, has gotten married and has given birth to a baby boy.

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Kahlen desires the same successful future for her daughter Brenna. “I’m really hopeful that Brenna’s going to be able to live a full and productive life,” she says enthusiastically. “She is normal; she just has more challenges.”

Drew has an unusually mild case of tuberous sclerosis and, barring any unusual complications, he will live the rest of his life healthy. But TS still affects him. Drew is my fiancé, and we now must decide whether or not to have biological children—with a 50 percent risk that each would have TS. People warn us that our children could have dozens of seizures a day, that they could have developmental delays or major behavior problems. I’ve heard all about the health risks, the financial cost and the emotional strains. Then I think, 21 years ago, what would I have wanted his parents to do? Would I give up the rolling laugh that meets my teasing? Would I give up the strong arms that encircle me when I’m having a rotten day? Would I give up the deep brown eyes that see my heart—just to avoid tuberous sclerosis? Absolutely not.

Because even if Drew has another seizure or his kidneys are overtaken by tumors, or even if we have a child with a very severe form of the disease, Drew is still my precious Drew. He still brings me happiness and companionship every day. He is still irreplaceable.

by Noelle Kelly

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