In Rare Syndrome, Bruise Could Mean Death

She let her son jump on a trampoline, for instance, but only with a helmet. Even that wasn't sufficient, and David sustained an injury that left him with a weak part in his brain. He has since undergone a bone marrow transplant and, unfortunately, has contracted a number of secondary infections necessitating a regimen of medications and steroids.

"He has not done that great," said McNally, although she remains hopeful. "These boys just have a spirit about them that is just incredible."

Part of the problem with Wiskott-Aldrich is that it is a very complicated disorder to treat, with a wide variation in the symptoms from patient to patient. Dr. Hans Ochs, an immunologist at Seattle Children's Hospital, explained that the prognosis for Wiskott patients used to be grim.

Prognosis for Wiskott-Aldrich Improves

"Those with classic Wiskotts used to die all within the first two years of life," said Ochs.

The disorder was first identified in 1937 by Dr. Alfred Wiskott, who noticed a group of children that had problems with excessive bleeding -- and what's more, all of their platelets seemed to be abnormal. Then, Dr. Robert Aldrich came along in the 1950s and discovered that only boys seemed to get the disorder and that it affected the autoimmune system, but not the brain or muscle cells. By the 1990s, the gene responsible for the disease was discovered.

Since then, treatment options have expanded.

"Now, we are identifying these patients earlier on in life -- that's the important thing." Ochs said. "And if they have the most severe form of the disease and we get them a bone marrow transplant, the outcome is pretty good."

In Europe, gene therapy is now being used to treat several patients, although long-term side effects of that treatment are still unknown.

Still, it has been a long struggle for many parents and their children. Just a few years ago there was almost no information available about the disease -- no fancy foundation, no walks for the cure, not even a Web site -- until a pediatrician from Chapel Hill, N.C., decided to create one herself at Wiskott.org.

"There was nobody to connect with and nobody to talk to 10 years ago," said Dr. Sumathi Iyengar, whose son, Amalan, was diagnosed with Wiskott-Aldrich in 1999. Iyengar quit her practice to devote herself full-time to her son's care.

She explains that with Wiskott-Aldrich, the social impact of this disease can have as much of an effect as the medical. For instance, Iyengar and her husband decided to get rid of all their furniture -- except the beds and dressers in her daughter's rooms -- to try to reduce the risk of injury to her son.

"It may seem drastic, but I got rid of my couch, our beds, the dining room table... I just felt it was detrimental to my son to keep hearing 'no, no, no' every minute of the day," said Iyengar. Then she decided to home-school her son, to limit his chances of getting sick.

Building Awareness for a Rare but Serious Condition

Despite those precautions, her son still received his share of bruises which, because of the irregularities in his blood, would swell up to 3 to 4 times normal size, raising suspicions of abuse whenever Iyengar would take her son to the hospital.

"They almost called social services on us, but I would just tell them wait until you get his blood labs back," said Iyengar.

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