A huge thanks to all of you who have responded with so much love to our family. We will try over the next few days and weeks to catch you up on all that is happening with Samuel and his family. It will probably be most helpful to share a little bit of the background and what we are dealing with in terms of the disease and the usual prognosis.
Please continue to give your feedback and ask any questions by posting here or messaging us directly. Your support and encouragement is so vital and lifegiving so we want you to feel included and 100% “in the know”.
The simplest answer to the question “what is myelofibrosis” is that it is a serious form of cancer of the blood marrow. It is a fairly rare type of chronic leukemia caused by gene mutation where normal healthy blood marrow cells are replaced by abnormal cells as well as causing bone marrow that is normally spongy to harden and fill up with scar tissue. The mutated stem cells pass along the mutation to other cells and are often over-produced in other parts of the body especially the liver and spleen.
Some symptoms are extreme fatigue from the imbalance of red blood cells, weight loss, and pain from the enlarged organs. Most debilitating is severe bone and joint pain caused by the hardening of bone marrow and inflammation of the connective tissue around the bones. Samuel is on continuous 24-hour pain medication that has been steadily increased but is often still not enough. When he cannot cope with the level of pain, he is admitted to the ER and sometimes to the hospital for the night to be given more pain meds through I.V.
The most common gene mutation that causes myelofibrosis and other blood disorders is the JAK2 gene. Samuel tested positive for the JAK2 gene and has suffered for the past several years with polycythemia vera (a less severe blood disorder). When he was finally diagnosed (after some years of deteriorating health) less than five years ago, the doctors predicted a more serious cancer could develop in around 20 years. This rapid progression he has experienced is very alarming and has underlined how life-threatening his condition is. The JAK2 mutation also places Samuel at high risk for continuing mutations to even more aggressive types of leukemia.
Myelofibrosis had no treatment until November 2011 when the FDA approved a form of chemo pill that attempts to slow the disease and minimize symptoms by targeting the JAK2. It is considered a palliative treatment and only intended to prolong and improve quality of life. Samuel has been on this medication since September and his dose was doubled in November with little positive results.
The ONLY other option is a bone marrow transplant and being such a complicated and costly procedure is reserved for otherwise healthy, younger (under 60) patients that are in an extremely life-threatening stage of the disease. We are so grateful that Samuel qualifies!!! A successful bone marrow/stem cell transplant can be a complete cure. That is our prayer!
We are doubly blessed that both of Samuel’s siblings are a complete match in all 10 factors that are tested. His sister, Janine, got the news first and jumped at the chance to be his donor, immediately making plans for the travel and time required. Imagine our surprise when his brother, David, was also a perfect match. Many people with more siblings get no matches at all. David was eventually chosen to be the donor after further blood tests. We are forever grateful to Janine and David for their wholehearted immediate desire to put their lives and jobs and families on hold and get on a plane for this medical procedure. “No greater love than this…” Please keep David and his family in your prayers too as they make plans to be such an integral part of this journey.
Thank you again for your support and love.