JAK2 mutation

Please post here your experiences of MDS as a patient, carer, family or friend

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JAK2 mutation

Post by Birdman » 01 Sep 2016 12:10

I am 87 years old, look after myself and am diabetic. In April 2010 the blood test for my annual diabetes review showed that I had anaemia. I was referred to a haematology consultant at Stoke Mandeville Hospital, who took a bone marrow sample which showed that I had the RAEB form of MDS. Due to my age only palliative care was available to me. I had my first blood transfusion in Oct and thereafter every 3 weeks, occasionally 4. Usually 2 units, but sometimes 3. Later that year with rising ferritin levels I was referred to the Churchill with a view to being accepted for the Telesto Trial (Deferasirox also known as Exjade) to which I duly signed up. Ever since I am seen every 4 weeks. Passage of time showed that I am on the drug and not the placebo

An advantage to being on the trial, apart from ferritin reduction, is a heart scan at JR every 3 months and annual hearing and eye tests which reveal any problems in those areas.

Routine transfusions and monthly checks proceeded smoothly till early 2015 when intense skin irritation developed and still continues particularly after a shower. At the same time intervals between transfusions increased, first to 4 weeks then 5,6 and 8 weeks. At the same time a gland on the back of my head became swollen and also irritated, again it still does. I developed antibodies and my blood group changed to ARhd positive.

In July of that year at my routine Churchill appointment an additional blood sample was taken which showed that I had become JAK2 mutant which explained all the above changes. The mutation also caused a thrombosis in the Oct.

In June this year the 4 weekly blood samples showed a platelet count over 700 and I was put put on 500 mg of hydroxycarbomide daily for the future. As well as reducing my platelet count white and red cell production are also reduced so the gap between transfusions Is now reducing quite quickly.

Has anyone had a similar experience.
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