This post will be for all of you who care about how the ins and outs of XLP work. I know that this will include a lot of medical terminology, so I will do my best to explain everything as best as I can.
XLP is a genetic disorder that affects one in a million males world wide. XLP is on the X-chromosome, so it passed on to a male through the X-chromosome received through the mother.
Technically speaking, females can also have XLP by receiving it through either their mother or father (since a female gets an X-chromosome from their mother and father). However, even though she may have gotten one X-chromosome with XLP, she will still has one fully functional X-chromosome, which will keep her healthy. If a female has a bad X-chromosome, she may have a slightly harder time fighting infections; though there is not much research on whether or not there is any affect on her immune system.
XLP affects the body’s T-cells; the T-cell is the first line of defense against a infection. Some of these T-cells’ job is to go and inform the rest of the immune system to activate. In this case, since the T-cells are affected by XLP, the body will react abnormally to some infections. This reaction is that the affected person’s immune system will either over or under active. In either of these cases the body will suffer and often leads to death in childhood.
The treatment for this disorder is normally a bone marrow transplant. There are other treatment methods, but I know very little about them, and will focus on the one that I had. A bone marrow transplant involves finding a donor. In my case, this was my brother, who happened to be a perfect match. The bone marrow from your donor is extracted and prepped to be placed inside of you. Next, doctors administer ten years worth of chemotherapy to kill of your immune system (this either cures you or kills you). This is done to ensure that your body won’t reject the donor bone marrow. The donor cells are then transplanted into the recipient and they administer immunosuppressive drugs to stop my body from destroying the donor cells. During the killing of the immune cells, the patient has to stay in a clean room so that the chance of getting an infection is as low as possible.
You spend about two weeks in the clean room to complete the entire procedure. After this, you spend some time at the hospital getting better and taking some awful drugs to help the body after such a crazy ordeal. They keep you in the hospital for another few weeks. After that you are sent home. Even though this sounds great, you still have to take this awful tasting medicine.
Even though the whole transplant procedure is over, there are still a lot of hurtles to get over. Since your body has had so much chemotherapy, some organs can be affect and may not function properly. Additionally, you are at high risk for a host of other illnesses, that can come with having someone else’s cells transplanted into your body. Graft vs Host disease is one of the better known ones. With this condition, the immune cells from the donor attack the host cells assuming it is foreign body. This can lead to major health complications even after a fully successful transplant. Some of these complications include organ problems, inflammation and jaundice. These can be not very aggressive to fully life threatening in there severity.