| What follows is a brief overview of Wiskott-Aldrich Syndrome, or WAS. Neither of us are doctors, so if you find any errors, please drop us a line and we'll try to correct them. | ||
| What is WAS? | ||
| WAS is an X-linked genetic disorder affecting approximately 500 boys in the US. It is a selective immuno-deficiency disorder causing the body to fight some infections and viruses but not others. Considering its rarity, there has been a fair amount of research done on the syndrome. Five years ago, scientists mapped the gene which causes WAS. Studies on WAS have been done because there are many genentic mutations within the syndrome, and studying these may give valuable insights into how the immune system works. | ||
| How did Kieran get WAS? | ||
| Unknown to Vanessa, her body was carrying a faulty X chromosome. Since she has two X chromosomes, her own cells ignore the faulty genetic instructions and develop normally. Unfortunately, the X chromosome that Kieran inherited from Vanessa was the faulty one. As he only has one X chromosome, his cells don't have a proper set of instructions. Vanessa does not have a history of WAS in her family, but it is apparently not uncommon for it to appear in a woman who then passes it to her son. | ||
| What is WAS like in a little boy? | ||
|
As mentioned above, Kieran's cells don't have a proper set of instructions. As there are many different possible mutations in the gene giving rise to WAS, doctors don't know how the disorder will progress in each individual patient.
There are a few things that WAS patients seem to have in common. Firstly,WAS sufferers have a low platelet count, and these platelets themselves are smaller than normal in size. Platelets are those helpful little things in our blood that help it to clot. A low number of platelets can cause a WAS sufferer to experience uncontrollable bleeding from moderate wounds or injuries or, in severe cases, they might bleed spontaneously. Fortunately, doctors can now treat this bleeding with transfusions of whole blood, platelets, or clotting factors. Another typical symptom that WAS patients have is infections. WAS sufferers may fight off some infections like a normal person would, but other infections may not be treated by their bodies at all. The herpes family of viruses, including chicken pox, measles and glandular fever are particularly troublesome, especially since once in the body some of them never go away. Antibiotics and transfusions of other people's immunities (from donated blood) can be used to help. The last common symptom that occurs in a lot of WAS patients is eczema. The itchy, rashy skin that a fair number of babies and children can be quite persistant in WAS. Fortunately, eczema itself can be treated, though it adds a lot of work to the daily routine. |
||
| Long term prognosis? | ||
| Unfortunately, if a WAS sufferer manages not to bleed too much and not to catch anything bad, by the age of 10 or so his body will start developing cancer. Currently, the average life expectancy for WAS sufferers is 15 years, though some people do make it into adulthood. | ||
| Is there a cure? | ||
|
Currently the only cure is a bone marrow transplant. If a donor can be found, if the boy is young enough that he's not suffering from anything too serious, and if he is healthy enough to have a good chance of surviving the procedure, then he would be eligible for a bone marrow transplant. A successful BMT would mean that he would no longer suffer from WAS at all. (Any daughters he might have would be carriers of the disease, however.)
Experiments in gene therapy are being done, but it is doubtful that they will be developed in time to help Kieran. |
||
| Fall 1999 |
|
| Medical Page | |
|
| Home |