Stem cell top up number three all went ok another long day but here’s hoping third time lucky! I will be having blood tests next week to see if it is working and again four weeks after that.
For the first time since starting my blog I am going to try and explain my illnesses so bear with me t as there is an ever growing list! Also my main disease is complicated and something no one’s heard of. I often find it difficult to explain to people and it is hard to understand when it is something so rare.
So I will start with the easy ones, I have bronchiectasis which is damage in the airways of your lungs this is caused by either having had childhood pneumonia or underlying immune problems. It doesn't effect me too much in everyday life but does if I get a cold.
Next up I have lymphedema I have talked about this in a past blog post, this is an illness were your lymph glands do not work properly, for me it has meant swollen legs, ankles and arms. When I can I wear specially made stockings which keep the swelling to a minimum but they are compression stockings so a nightmare to get into.
I also have blood clotting issues which caused me to have multiple lung clots in my twenties so long life blood thinning medication is needed, since just before my transplant this has meant injecting myself in the stomach daily with clexane. Once my stem cell top ups are finished I will return to warfarin tablets and I cant wait, these are not nice small thin needles!
The mixture of taking clexane and early menopause has meant I have developed osteopenia, this is the thinning of the bones so vitamin D and calcium tablets and hope it doesn't develop into osteoporosis.
Pernicious anaemia means I have B12 and folate deficiency, this is treated with folic acid tablets and an injection of B12 every 8 weeks.
Lastly of the what I call minor ailments is my joint problems, I have a bulging disc at the bottom of my spine and knee problems in that they don't move the way they should so are painful and damaged but physiotherapy and pain relief when needed helps.
Ok so now we get to the complicated part hopefully you haven't fallen asleep yet. The reason I needed a stem cell transplant is because I was diagnosed with myelodysplastic syndrome caused by GATA2 deficiency and monosomy 7.
I will explain as best I can, myelodysplastic syndrome or MDS is when the bone marrow does not produce enough healthy blood cells causing bone marrow failure. GATA2 deficiency & monosomy 7 are genetic mutations which happen to your cells before you are born. GATA 2 deficiency was only named as a disease in recent years and research is fairly new. It is known that it can cause low levels of blood cells, before diagnosis I had anaemia low white cells for some years this led to many recurrent infections which is one of the symptoms this can be anything from skin infections to respiratory infections. Lymphedema, blood clots and skin problems are also symptoms. I had all of these. As the illness is also very rare only a few people a year a diagnosed with it, it is incredibly difficult to get a diagnosis although it took me about 7 years to be diagnosed I am lucky they found out what it was through a bone marrow biopsy before I died from infection or bone marrow failure.
The image in this blog post is from ‘the blood Journal’ website and shows the development of symptoms from birth to death the age range at the top shows you Without a transplant my chances of living past my thirties were slim, but if my transplant works it throws this timeline out of the window so far I have a new immune system and unless I relapse the GATA2 is gone.
This is a lengthy post but people often ask me what actually is my illness,it is not something you can explain in a brief conversation but Im hoping this post explains it a bit. If you google my illness all you will get is medical journal documents which makes it even harder but as more research develops over the years more people will know about it and I hope less people will die before ever being diagnosed. It is a strange mix of symptoms and no local doctors or hospitals could figure me out it took a lot of my GP pushing me back into the hospital system year after year before finally they did a bone marrow biopsy that went to Manchester and then to London. Kings College hospital London has been fantastic although I am still spending far more time there than I thought I would be by now.