In Rare Syndrome, Bruise Could Mean Death
Wiskott-Aldrich syndrome turns even minor injuries into grave emergencies.
Dec. 8, 2009— -- 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.
