Jill Musgrove knew something was wrong with her baby, Kyler, when he was just two days old.
"He was still bleeding from his circumcision two days after we came home. And he had this awful skin condition that we thought was just cradle cap," said Musgrove, referring to a minor skin condition common among babies.
But then, Kyler's blood tests came back and showed that he had an extremely low blood platelet count.
"The doctor said, 'Well, I think he has Wiskott-Aldrich Syndrome.' I said, 'What is the treatment?' and I remember he looked at me and said, 'Well, let's just wait for the diagnosis.' That moment, I knew it was serious," said Musgrove.
Wiskott-Aldrich, which occurs almost exclusively in boys, is a disease most people have never even heard of. Indeed, past research suggests that it strikes only four out of every million boys born in the United States. But this rare genetic disorder targets the blood cells called platelets, which are instrumental in the clotting of the blood. These cells are affected in such a way that everything from an everyday sniffle to the normal bumps and bruises of childhood can become a source of dread and panic for the parents of stricken children.
The textbooks tell you that Wiskott-Aldrich Syndrome (WAS) is a "genetically inherited immunodeficiency disease" that affects the blood -- white blood cells and platelets specifically -- making children extremely susceptible to infection and excessive bleeding. Infants often display an excema-like rash, as well.
The only known cure for the disease is a bone marrow transplant. Many parents whose children have mild symptoms opt to remove the spleen, rather than undergo the more complicated marrow transplant. Removing the spleen from these boys makes it less likely that they will experience excessive bleeding -- but it is a surgery that carries risks of its own.
Musgrove and her husband, Coty, decided on a transplant for Kyler, who is now 8 months old. In a few short weeks, Kyler will receive a donation of cord blood -- and undergo the procedure that offers his best hope at long-term survival.
Special Measures to Protect Kids With Wiskott-Aldrich
"I am so excited that it's Christmas, but for the first time in my life, I am dreading it because we are about to go into the hospital. And we don't say this around the house but I know that this could be his only Christmas," Musgrove said.
In the meantime, the 22-year-old mom from Hayden, Ala., tries to keep her son's life as normal as possible -- but that isn't so easy for WAS kids.
"We have to walk with a plastic shield around his stroller and he can't really be around other children for fear of infection," Musgrove said.
Those are the kinds of precautions that Aimee McNally is all too familiar with. McNally, a mother of four from Scotts Valley, Calif., found out her son, David, had a relatively mild case of Wiskott-Aldrich four years ago. He had a low platelet count, but had none of the infections or skin disorders fairly typical of WAS. Still, like most WAS parents, McNally had no choice but to limit some of her son's activities.
"There was no climbing on the jungle gym because he could fall," she said. "It is so difficult as a parent because you want them to have a normal childhood. But you have to be aware of even normal things, like there's no digging in the dirt, because dirt contains fungus, and they could get a lung infection."
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.
A transplant was not possible for her son, either, because they could not find a matched donor. Still, her son has a relatively mild form of the disease and has not succumbed to the infections that can be ever-present. He is currently going to school and is able to live a relatively normal life. "He is a beautiful and well-adjusted child, so I am blessed."
Others are not so lucky.
On YouTube there is a video posted by a young man who calls himself Jeff. It runs just over a minute and begins with a simple plea: "I am making this video today to request help..." Jeff explains that three years ago at age 21 he was diagnosed with Wiskott-Aldrich. He says he can't find a doctor to treat him and knows very little about the disease.
The video continues: "I am reaching out to anyone watching this video. If you are a doctor or know of a doctor who is willing to spend the time and energy to devote with all my problems and symptoms I have, I would greatly appreciate it."
The video was posted more than a year ago.