Sometimes, a birthmark can be more than a stain

Sometimes a birthmark is more than skin deep. It can be a sign of a profound developmental problem that requires prompt medical attention in a newborn. And it can mean parents must make agonizing choices on behalf of their child, ranging from powerful drug treatments to brain surgery.Kathleen Moore was confronted with just such a challenge 13 years ago when her daughter, Danielle, was born with a dark red birthmark covering half of her face.

The delivery room nurses tried to reassure Ms. Moore that the birthmark, known as a port wine stain, would fade with time. But she had her doubts. This blemish just seemed too big to disappear. She feared her child would have to go through life with a disfigured face.Ms. Moore had good reason to worry, although she had no way of knowing the full extent of the difficulties that lay ahead. Her pediatrician also suspected something else might be deeply wrong.

After a series of tests, Danielle was diagnosed with Sturge-Weber Syndrome, a rare condition in which the birthmark extends to the brain itself.Small port wine stains are relatively common. (Former Soviet leader Mikhail Gorbachev has one on top of his head.) They are caused by an overabundance of blood vessels just underneath the skin. However, a tiny fraction of children with extensive facial birthmarks also have similar malformations on the brain.

The condition occurs in one of every 50,000 births.Essentially, an unusually thick mat of blood vessels covers a portion of the brain surface, explained Dr. Mary Connolly, a neurologist at British Columbia's Children's Hospital in Vancouver.As a result of this abnormal growth, blood can be diverted away from underlying brain tissue and a child suffers from what amounts to series of strokes. This brain damage, in turn, leads to seizures that can cause even more harm.

In Danielle's case, the seizures "came on with a vengeance" at just five months of age, recalls Ms. Moore, who lives in Port Coquitlam, B.C. Some episodes lasted for more than an hour and anti-seizure medications did little to reduce their frequency or severity. There was a very real risk these seizures would lead to extensive damage to the child's already challenged brain.Ms. Moore was faced with a horrific choice: She could let the seizures take their own course or opt for a hemispherectomy -- the surgical removal of part of the brain.

By cutting out the damaged part of the brain, it was hoped the seizures would be stopped or at least lessened. From the experts in the field, Ms. Moore learned her daughter's prospects for recovery would be much better if the surgery were done as soon as possible. An infant's brain is still developing and relatively "plastic." That means the remaining parts of the young brain can learn to partly compensate for what has been lost.So, at the age of 8½ months, Danielle underwent surgery to remove much of her left cerebral hemisphere, almost half the brain. The top layers of grey matter (the "thinking" elements) were cut away on the left side of her brain.

The underlying white matter (the "wiring" which connects different parts of the brain) was left intact."Although this is a dramatic thing, it is the best thing for saving function and controlling seizures," said Dr. Douglas Cochrane, the neurosurgeon who performed the operation at the Children's Hospital.Fortunately for Danielle, the operation paid off and her seizures were significantly reduced. Still, it hasn't been easy growing up with what amounts to half a brain.

Her physical movement is limited on the right side of her body and she suffers from learning disabilities."Danielle did not learn to walk by herself until she was at least three years of age. Speech was also very slow to come," Ms. Moore said.School presented more challenges. Ms. Moore, a single parent, has struggled to make sure her daughter got the attention she needed. "I had a teacher approach me and say, 'Your daughter may never learn to read.'

But I wasn't going to take that for an answer."Despite the severity of the surgery, Ms. Moore said she has no regrets. "I am glad I made the decision I did because, in her case, the seizures came on at a very young age. That is usually the hallmark for serious problems down the road . . . And if you can't get these seizures under control, they can cause further brain damage."

Other parents have chosen different paths for their children and are just as convinced they did the right thing.Mariea Strangway and her husband, Walter, rejected the idea of a hemispherectomy for their daughter Lisa almost four decades ago. At that time, the Sarnia, Ont., couple went to Toronto to consult with medical experts at the Hospital for Sick Children.One doctor at Sick Kids urged them to consider the operation."It sounded pretty severe . . . and we never did it," recalls Mrs. Strangway.

Years later, "we would pat ourselves on the back and say 'Thanks heavens, we didn't do that.' "Even so, "Lisa suffered from an awful lot of seizures" and the medications produced wild swings in behaviour. "It was just hellish. We would go through periods of five days and nights without sleep" because the child was so hyped-up by the drugs.What's more, Lisa also suffered from severe learning disabilities. And the Strangways had "to fight tooth and nail" with the local school board to get special help for their daughter.

Lisa is now 38 and lives with her widowed mother. She has a job at a sheltered workshop with other people with special needs.In many respects, both Danielle and Lisa ended up with a lot of similar developmental problems, even though their parents chose very different treatment options."Any time you are going to really batter a little brain around, I think you will get some developmental impairment that follows," Dr. Suzanne Jacobsen, a Vancouver psychologist who treats children with complex developmental disabilities, including Danielle.

In recent years, there have been several medical advances that are making a difference in the bleak outlook for patients with Sturge-Weber Syndrome."There are better drugs today for controlling seizures," said Dr. Daune MacGregor, a neurologist at Sick Kids in Toronto. Improvements in medical imaging -- such as CT scans and MRIs -- provide clearer pictures of the damaged regions of the brain, so surgeons have a better idea of the children who would be suitable candidates for surgery even before the skull is opened.

That has meant fewer hemispherectomies are now done. When the operation is performed, surgeons tend to remove less of the actual brain tissue, compared with a decade ago. Instead, the connections between different parts of the brain are severed to limit the effects of the seizures."Ideally, you would never have to do a hemispherectomy . . . but we are not there yet," said Dr. Jacobsen.

"The important thing is that parents have all the information to make the decision that feels right to them because there are so many variables -- the child's age, the number of seizures, even how much of the brain is consumed by the port wine stain."Inside the mind of a childA child's brain is an amazing thing. If a region becomes damaged, there is a strong likelihood other parts will pick up the slack. That's because the mind is still developing and certain tasks have not yet become rigidly assigned to particular areas within the brain.

Suzanne Jacobsen, a Vancouver psychologist who specializes in kids with complex developmental disabilities, says this "plasticity" exists up to the age of 6, and possibly later. But, she adds, "I have seen far better recovery from a brain injury under the age of 2, compared with a similar injury that occurs over the age of 2."Still, there are limits to just how much a young brain can adapt. Children who have undergone hemispherectomies -- surgical removal of half or part of the brain -- often suffer from limited movement on one side of the body.

There may be visual impairments as well. "You don't lose your vision, you just might have to turn your head to see in a particular direction," said Dr. Mary Connolly, a neurologist at British Columbia Children's Hospital. Many children will also suffer from varying degrees of learning disabilities and cognitive deficits."It is no mystery they would have learning-related issues. . . .
They are functioning with half of what the rest of us function on," said Dr. Connolly. "But many of these children function very, very well."