Lliam’s Chronicles

The human body is a strange and wonderfully complex thing. It is an intricately balanced organism and even the slightest change in the make-up of something as small as a stem cell can result in major complications and big changes in how the body reacts to itself and the environment it finds itself in. While this is sometimes frightening, it is also comforting. There are so many processes and systems we do not fully understand yet and so much we can still learn, that there is always hope.

You are probably guessing by now that we are facing a new challenge. But then, that is part and parcel of the Aplastic Anemia journey. It keeps you humble. Just to explain our absence and lack of posts for the past six months or so – Lliam has been doing great. His blood counts were slowly increasing, and aside from a few other issues we will get into later, we believed we were on our way to being rid of concerns with regards to Aplastic Anemia.

As per the last blood counts Lliam’s hemoglobin count was 127, his platelets 110 and neutrophils 1.6, all moving in the right direction and showing continued improvement. Lliam started high school with a bang this year. He had lost almost all of the weight he gained following the Atgam and steroid treatment. He is fit and feels good, and enjoys participating in all sorts of sports activities including tennis, soccer and swimming. He loves participating in Scouts activities, rock climbing, kayaking, riding on his bike with friends, and much more.

We did experience another brief scare, but as we didn’t want this site to turn into a general blog about the life of a teenage boy, we did not discuss it online. Now, seeing as we have to post anyway, I’ll just briefly mention that a benign tumor was found in Lliam’s left arm, diagnosed as an Echondroma. As far as we know this is unrelated to the Aplastic Anemia. Lliam did not need to undergo any specific treatment for this, and the size of the growth will be monitored for changes.

So now we get to the reason for this post. I remember reading about PNH when we initially did our research on Aplastic Anemia. We were aware that Aplastic Anemia in some patients can be followed by PNH or Paroxysmal Nocturnal Hemoglobinuria, but chose (characteristically) to cross that bridge if and when we ever get there. PNH is a rare, acquired disease closely associated with AA and MDS. Scientists are still doing research to understand the exact nature of the link between these diseases.

PNH is caused by an acquired (not inherited) defect in the cell membrane, leading to vulnerability of all three types of blood cells to attacks by the body’s immune system. The bone marrow stem cell (which is used to make red blood cells, white blood cells and platelets) sometimes mutate and may contain a genetic abnormality. All blood cells created by these defective stem cells then have the same abnormality. It was explained to us that most people have defective cells in their body, but these are normally crowded out by normal cells. In aplastic anemia patients, where new blood cells are formed at a faster rate during recovery, these defective cells sometimes have a growth advantage.

What this then means in very simple terms is that these cells are easily destroyed by the “complement”, which is a part of the immune system. The complement (a group of proteins in the blood stream) circulates inactively until triggered by any number of events including infections and trauma, when it gets activated to get rid of invaders. All three types of blood cells are then in the process attacked and destroyed by complement because they lack two specific protective proteins, but it appears that the breakdown of the red blood cells in the blood stream is responsible for most of the symptoms and risks associated with PNH.

Why am I telling you all this? Well, it is normal for aplastic anemia patients to have approximately 5% of these cells at time of diagnosis. Twenty years or thirty ago (when very few severe aplastic anemia patients actually recovered sufficiently to get to this point), only about 5% of acquired aplastic anemia patients moved on to get PNH. Nowadays, most likely as result of the success of the ATG (Atgam) treatment, 10 to 30% of acquired AA patients move on to develop PNH. There are some discussions as to whether ATG may play a role in this; but then, without ATG most patients would not live as long as they do today and then obviously the incidence of PNH following AA would be lower.

The percentage of defective clone cells is referred to as the Clone Size. The risks and symptoms involved in PNH obviously depend on the clone size. It is our understanding at this stage that doctors prefer to take a wait and see attitude until the clone size reaches about 50%. Treatment is mostly supportive, and the only real cure is a bone marrow transplant, which comes with its own risks. In Lliam’s case the risks involved in a BMT are increased due to the fact that it would have to be an unrelated donor. BMT’s are only considered in really severe cases. Great progress has been made in this field and it appears that a newish drug Eculizumab is quite effective in protecting red blood cell walls. This drug is still very expensive and rather inconvenient since it has to be given intravenously every two weeks (so regular trips back to hospital). It is currently only prescribed for patients with severe cases of PNH.

The fact that Liam’s clone size is roughly 20% even though his bone marrow function has recovered to the extent it did suggests that his AA may have evolved onto PNH. He has not experienced any of the symptoms of PNH to date, and it is our deepest wish that his clone size gets smaller and that he recovers without the need for further medical treatment. For now, the best approach is to keep an eye out for symptoms, but allow Lliam to live fully and enjoy himself. A fit, happy and healthy boy is in a much better shape to fight any disease. So, to Lliam’s delight, sport is prescribed as the best treatment at the moment.

It is important in situations like these to consider the reasons to be grateful. We have a much fitter, stronger and happier boy than two years ago when Lliam was first diagnosed with severe aplastic anemia. He responded very well after only one set of Atgam treatment, so his body took less of a pounding than could otherwise have been the case. He is a remarkably resilient person with a flamboyant and optimistic nature. He is young and lucky to be born in an age where medical breakthroughs happen on a daily basis, and where doctors know much more about how to treat patients with rare diseases such as aplastic anemia and PNH than they did in the past. We are lucky to live close to a hospital and specialists with the necessary expertise in dealing with these very rare diseases, and in a first-world country where the risks to patients like Lliam are far, far lower than in many other countries.

We are parents, not doctors (although some days we wish we had chosen careers in the medical field). So, when you read this, please keep in mind that these posts are a journal of our experiences, and that we are writing these posts as we learn more about Aplastic Anemia and PNH. Please forgive us for scientific inaccuracies, and feel free to correct our explanations if they are too misleading. We will try and share whatever we learn with you.

Thank you again to all for your support. To those of you reading this that may be facing the same challenges; good luck, and we’d love to hear from you.