You will notice, again, that I took my sweet time to update this site to reflect the last blood tests that was taken in April 2010. The first reason is we have just been incredibly busy. The second reason, to be honest, is that the game has changed a little bit for us. Before we were told about Lliam’s PNH clone, we believed we were on the home stretch adding the last few updates on our way to a full recovery from Aplastic Anemia. Now we know we are in for a longer battle, during the course of which (at least for now) there is not much else to do but wait and see. We are, of course, still hopeful for a full recovery without the need for additional treatments. Lliam continues to do very well and you won’t believe he is sick if you if you saw him, for which we are very grateful. Many others are not so lucky, and we’ll get back to that shortly.
Just to get the results of the last blood tests in April 2010 out of the way then. The results of the standard blood tests we’ve been monitoring since we started this journey came back just great. His hemoglobin count was 130, White Blood Cell count 4.6, Neutrophils 2.7 and Platelets 136! All of the other indicators including HbF and MCV are normal or moving in the right direction. This is a far cry from where we started. It is really just the platelets that are not in the normal range yet, but we are getting close. All of these blood cells, aside from the fact that they are more fragile than normal cells, are doing the work they should, so Lliam is full of energy and well enough to continue participating in all the sports activities he wants.
The PNH clone size at the time Lliam was diagnosed with Aplastic Anemia was approximately 5%. This has now grown to what is described as a small PNH clone size of 28% on red blood cells and 66% on leucocytes. A urine test indicated that very low levels of hemolysis (breakdown of red blood cells in the blood) were present, but his bone marrow is working well enough to compensate for this. He has also not experienced any of the clinical symptoms of PNH yet, so at the moment he is not receiving any treatment. We just have to go back every three month for tests as described earlier and keep an eye out for symptoms.
Now, to get back to other people who are in desperate need of help. As we explained in an earlier post, the only cure for PNH is a bone marrow transplant which can be a difficult and dangerous process, especially in the case of an unrelated donor transplant. The only other treatment option for PNH is Soliris, a drug that helps to strengthen the cell walls. In doing so, it improves not only the quality of life for PNH patients, but it also helps prevent damage to kidneys and reduce the risk of life threatening blood clots. It is also, unfortunately, the world’s most expensive drug, with the costs running up to approximately $20 000 per month per patient.
Due to the high cost of the drug and the small number of patients that need it, it will never meet the cost-effectiveness criteria required under the Medicare / PBS scheme. There are only approximately 70 patients in the whole of Australia diagnosed with PNH and of those roughly half are in desperate need of this drug. The Life Saving Drugs Programme is a separate fund established to assist in special situations such as these, but Soliris is currently not included to form part of this programme, even though the drug is included in similar programmes in 30 other countries including the USA, Great Britain and Canada.
Members of the PNHSAA (PNH Support Association of Australia), an organization established to support Australians with PNH are in the process, together with patients and doctors involved, of lobbying the Australian government to secure a listing of Eculizumab (Soliris) on the Federal Government’s Life Saving Drugs Program. If you are an Australian resident or citizen we would really appreciate it if you can take the time to consider signing the online petition below and maybe even forward this link on to friends of yours that may also be able to assist in this matter.
Link to online petition - Soliris for Australians.
The article below tells the story of another PNH patient in Australia that depends on Soliris to stay alive.
Link to story about another PNH patient as published in a newspaper.
You can find more information about PNHSAA at the link below.
I found your site while searching for information on PNH. I have actually been surfing the net since January of last year when our 6 year old son was diagnosed with Aplastic Anemia, then Fanconi Anemia, then MDS, then finally in December of last year - AA/PNH. He has extremely low counts of all 3 blood types, and all 6 bone marrow biopsies and aspirations have been hypo, hyper, hypo, hyper . . . you get the picture. His first doctor retired. The second is just in a wait and see mode and we as a family do not have a very good relationship with her. Kaedyn’s clone size was initially 5%, the last was a little higher, and his next test will be in August, along with another bone marrow biopsy and aspiration.
As I was reading through your postings, I was reliving our experience with Kaedyn: the weekly, sometimes twice a week doctor’s appts, weekly blood draws, numerous hospitalizations for infection, and I realized that we are not alone. There are many families out there experiencing the same as us, worrying, hoping, praying the tests either improve or stay the same. Your family sounds very knowledgable about both conditions, which I am sure helped you to understand better what your son was going through. My son, being a little younger, doesn’t really understand why he can’t go to school, or play sports, or go out in public. I guess just trying to maintain that family unit, including everyone in decisions and trying to give information in a non-threatening manner is about the best we can do. I hope your son can continue doing the things he loves and this illness allows him to live a full life. Thank you for sharing your experience.