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.
"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."