In 2015 I walked into a consultants room expecting some new prescription or the ‘we don't know’ I had been hearing for past seven years. But this appointment was different. That day I would finally get a diagnosis and even though it was shocking and terrifying a sense of relief was there as finally I had answers.
Over 7 years I had gradually become more and more ill. It started to really show in my late teens when I developed a virus and multiple blood clots in my lungs for which I was in intensive care and in hospital for many weeks, from there I started to have worsening fatigue, joint pains and infections which gradually got more frequent until I was having to ring my GP nearly every week. My blood counts were not terrible but I was neutropenic and had pernicious anaemia.
My GP kept referring me back to haematologists and rheumatologists every year to no avail. I was diagnosed with Lupus anticoagulant and antiphosphilipid syndrome but these still didn't explain all my symptoms. Eventually I saw a consultant at my local hospital who decided to do a bone marrow biopsy. This was sent off to Manchester and finally they could see what was wrong. Next I was sent to specialists at Kings College Hospital where I would finally get some answers.
My diagnosis is that I have a rare genetic mutation called GATA2 deficiency with monosomy 7 which had led to MDS My bone marrow was starting to fail and a stem cell transplant was my best option to try and cure the failing bone marrow.
It is now 3 years on and I'm still here thanks to my donor and all the medical professionals that helped me
I was very lucky Anthony Nolan found me a 10/10 match. An unrelated donor donated their stem cells to me, for which I will be forever thankful.
So in November 2015 after intensive chemotherapy I was given my donor stem cells and the journey to recovery could begin. For me the best place for treatment and specialists in my illness was King's college.
This in itself was a logistical and financial nightmare as I live so far away. It is on average an 8 hour round trip which meant for my transplant and for what turned out to be in total 6 months, I had to live in London away from my home and family apart from my parents and partner who took it in turns to come and stay and take care of me.
Everyone’s stem cell transplant journey is different and mine has had quite a few complications. But it is now 3 years on and I'm still here thanks to my donor and all the medical professionals that have helped to treat me.
My life is not what I thought it would be but I do things when I can and make the most of the things I can do. Art and photography are a big part of my life and they are a great therapy.
Also at the beginning of my transplant I started a blog, this is also a great way to get your thoughts down and to let everyone know how you are doing without having to ring round and answer lots of phone calls when you are too ill to do so. My blog detailing my transplant journey and more about my illness is http://beckyb8.wixsite.com/stemcelltransplant
I will always have health problems and a lot of those are not due to MDS but to my other illnesses, Gata2, emberger syndrome, lymphedema, the list goes on! But my blood is stable and hopefully will stay that way allowing me to enjoy doing the things I can do for as long as possible.
Update October 25, 2019: Good news!
After four years, intensive chemotherapy, a stem cell transplant and four stem cell top ups from my wonderful donor I'm in remission and my chimerism (which is the donor to my cell ratio) has improved greatly. One of the three results is now at 100% donor and the other two results are in the nineties which is fantastic and means a breather from worrying about what my blood cells are up to.
Also in a few weeks time I will be exhibiting my artwork for the first time in over four years. It is a massive step for me and will be great to show some of the art I have been doing over the last few years. The exhibition will be starting on the 4th of November at Rydal Hall in Ambleside and I will be making donations from sales to the wonderful charity MDS UK who support patients and families affected by Myelodysplastic Syndromes which are a group of malignant blood disorders in which the bone marrow fails to produce healthy blood cells.
Last but not least I will soon be able to have my MMR vaccine which is a great relief as measles has been rearing its ugly head in our area and across Europe with the lack of people getting vaccines done.
So while I still have many health problems and daily struggles I have a lot of things to be positive about thanks to my anonymous donor, family, friends and the staff of Kings College Hospital
Please do send us your story – whether you are a patient, family member or friend:
Email it to firstname.lastname@example.org, or call to our main office Tel: 020 7733 7558.
You may talk about any aspect of the condition, or how your experience has affected or changed you. Feel free to add photos as well. Thank you in advance!