Like any great novel, my first post didn’t encompass my entire journey with XLP. There are a few bits of information I had to leave out, however I am now able to tell that part of the story.
I have started writing this many times and never quite found the right words.

This part of my story starts immediately after my transplant. Things didn’t seem to be quite normal, as doctors started to be concerned with some of the results of the tests they were running. None of the tests were coming back as they should or as doctors expected them to come back as after such a transplant. At first, the hope was that it was all just a mistake or a blip. But soon after, we received news of an error with the administration of my transplant: the amount of one of the chemotherapy drugs I was given was incorrect. The name of this drug is Busulfan, and it is commonly used to prep patient’s for a bone marrow transplant. Busulfan is typically administered as a pill, but I was part of study looking at IV based Busulfan. What ended up happening was that someone at the hospital incorrectly titrated the drug, leading to me receiving a reduced dosage. As a result, not all of my bone marrow was killed. Typically, all of a patient’s own bone marrow needs to be killed as to accept the full amount of donor’s bone marrow. So, when I received my transplant the donor cells couldn’t fully take hold in my body. This is known as a mini transplant, something that is used for other illnesses. However this was never used before for XLP and turned out to be a large concern.

As you can probably imagine, this worried both my doctors and parents immensely. The probability of having to get a second transplant in my life seemed highly probable at this point in my life. Additionally, there was the probability of a possible ineffectiveness of my donors cells to fight illness. I was followed incredibly close for many years after by medical professionals. Typically, a patient who received a bone marrow transplant at this point in time may be seen 2-3 times a year, but I was still going monthly to be monitored. Their main concern was how well the donor cells would fight off infections and illness. I had and still have many test done to measure the effectiveness of the donors cells. One of the scariest tests of the donor cells effectiveness for me was when I got Mono. Mono is known to kill a lot XLP patients who haven’t received a transplant in a matter of days. So you can imagine how scary this was when my regular blood test results came back positive for mono. Though as you can probably gather, I survived, surprisingly with no issues at all. Throughout all of this, I was training full time as a paddler, although I drank way too much coffee to compensate for the extreme tiredness I felt because of Mono. Overall this error has had only minor physical effects on how illness affects me, such as the fact that I get sick a little easier and things tend to get worse if I do not really take care of myself. One such example is, if I don’t do a good job taking care of myself, the common cold will turn into bronchitis regularly.

The one area of my life this error has effected greatly is my mental health. Since I can remember, I have always wanted to be as close to a hospital as possible in case something happened. This fear only worsened when I found out about the error from many years ago (my parents did not tell me until I was around 12). Since then, the uncertainty of many things has made my mental health suffer. The reason I ended up wanting to write this now is because of Covid 19 and how this pandemic has reminded me of my struggles with XLP and mental health through the years. The constant extra precautions we are all having to take at the moment, but particularly those with compromised immune systems, are very similar to those I had to take as a young child and throughout my life since. They’ve always and now again have a wearing effect on my mind and body. However I have been very lucky to always have amazing support from my family, friends and girlfriend.

To end this post on a happier note, this mistake has had its benefits as well. For example, Graft vs. Host disease, an illness where your body rejects the donor cells and attacks the donor cells or vice versa, where your donor cells reject you and attack you, has never been an issue for me. This is in part due to my donor being a close family member, but also probably has to do with not receiving 100% of their bone marrow cells. I also had less side effects than those seen by individuals who have had full scale bone marrow transplants, and was able to have an extremely competitive and accomplished paddling career as well as live a more normal life than most.

To this date I still haven’t needed another transplant and may never need one. All of my important tests have been stable for at least 12 years now. I am one unlucky and lucky sun of a gun, all at the same time.
Aaron W. 2020

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.