Our story started when I was heavily pregnant with our first child in July 2022. My husband and I were not aware that he had an MPN. One morning, before he went to the doctor before work where they told him to go to the hospital for potential internal bleeding. He went in and was admitted and spent 2 long weeks where he had numerous CT scans, endoscopies, blood test, and other various medical drips. My husband was released but we still didn’t have answers to what had caused him to have internal bleeding. We were just told they needed to do further tests; however, they were pointing towards something to do with his liver which we were very much confused by.
Time went by and we had our baby girl! We were so busy with the joy of our new arrival we had almost forgotten about the hospital. 4 weeks later we were ablet to finally see a liver specialist with our new baby and were told that he had a blood disorder that caused him to have varices in his throat that burst, causing the internal bleeding. We left the appointment with a sense of relief to finally have an answer.
A few weeks later we had an appointment with the hematologist and were told that he had a JAK2 mutation myeloproliferative neoplasm, a blood cancer. We were devastated by this news. At the age of 31, this was not something we understood or had ever heard of. The only words we heard were “blood cancer” and, even though his hematologist is very knowledgeable and reassuring, we left feeling like our world had been turned upside with a 6-week-old baby girl.
After being told that his MPN diagnosis was not hereditary, we spent numerous hours researching the condition to better understand what we were dealing with. We moved on, so to say, and made the most of every day.
Just before our daughter turned one, we took her into the doctor’s office because she had a cough, and I was worried that she might have enlarged lymph nodes. The doctor didn’t seem too concerned but referred her for some blood tests just to be on the safe side considering my husband’s recent diagnosis. Her test results showed high platelets, and we were told to have the tests repeated as the rise in platelets could have been due to iron deficiency or an infection.
The second blood test once again showed that her platelets were unusually high. The hematologist referred us to genetic testing and another full blood count. Her results came back stating she also had a JAK2 mutation, the same one as my husband’s (JAK2 V617I). After this diagnosis, we sent off nail clipping to confirm that he has a germline mutation.
When our daughter was 6 months old, we became pregnant with our second child. We learned that my mother-in-law also has the JAK2 mutation but hers was never activated. My husband has now been officially diagnosed with polycythemia vera (PV) and is being checked every 6 months with stable blood work. We are now focused on living a positive, happy life despite all the challenges we were presented and remain grateful for our family every day.
