RARECONNECT
My Journey
My name is Matthew I am 52 years old and have been diagnosed with Atypical FMF, MEFV compound heterozygote, G678E/V7041 (both novel mutations).
I used to be a professional rugby player, who had the pleasure of being selected to play for my country,
I used to be a professional rugby player, who had the pleasure of being selected to play for my country,
Written by matt63, published 20 days ago.
My name is Matthew I am 52 years old and have been diagnosed with Atypical FMF, MEFV compound heterozygote, G678E/V7041 (both novel mutations).
I used to be a professional rugby player, who had the pleasure of being selected to play for my country,
I first became ill in 1988 my symptoms included, High fevers excruciating pain throughout my body, which I can only describe as hand grenades exploding within my body, extreme weight loss and nausea, I was diagnosed firstly with lymphoma and then Polyarteritis Nodosa.
The following 4 years of my life consisted of having chemo every 10 days, every time i was taken off the chemo I relapsed, it was only when my bone marrow became damage and I was unable to tolerate any more chemo that I was offered a different treatment. Immunosuppressant’s, for the few years I went through the full spectrum of Immunosuppressant’s which at the time were only being used for transplant purposes, however it seemed my body became tolerant to these drug and eventually I would relapse.
I was now time for me to start my own investigations into my illness I contacted a professor in the Norfolk and Norwich Hospital and was invited down for investigation, after the usual bone marrow biopsy Sural Nerve Biopsy and Muscle Biopsy certain autoimmune illnesses were ruled out, however no diagnoses was given so Prof sent me down to the Hammersmith Hospital in London, where I was first given the diagnosis of Cattleman’s Disease and started high dose Steroids in combination with Thalidomide, however every time the Steroids were reduced I relapsed.
Around this time the genome project was starting to take shape and a study of my genes took place, where it came to light I had 2 gene mutations G678E/V704I I was then given the new diagnosis of Periodic Fever Syndrome, and referred to the Addenbrooke's Hospital, my new treatment was Thalidomide in combination with Colchicine which had no effect on my illness and I continued to get worse.
I was to be offered a new drug called Infliximab, a monoclonal antibody which for a time put me into remission, however again my body became tolerant to the treatment and I went through a number of monoclonal antibody treatments including Etanercept all of which helped for a short time.
Addenbrooke's Hospital was a long way from home so my Prof suggested I saw a professor in the Freeman hospital in Newcastle which was much closer to home.
MY new Prof suggested I go to the Royal Free Hospital in London to seek advice from a Professor with a view to starting a new treatment called Anakinra.
So off I went to the UCL National Amyloidosis Centre at the Royal Free Hospital, after tests and more gene studies I was finally given a diagnosis of FMF, I started on Anakinra and went into immediate remission, for the first time in 25 years a was able to reduce the Steroids and eventually come off them, I was like a new man.
But wait the gene defects I have are both novel mutations and it wasn’t long before the daily injection of Anakinra was not enough to keep me in remission so I am now on 2 daily injections and am please to say I am over 24 months relapse free and living a normal life, whatever normal is lol.
I could have gone into more details of my illness but I know it would end up writing a book.
I used to be a professional rugby player, who had the pleasure of being selected to play for my country,
I first became ill in 1988 my symptoms included, High fevers excruciating pain throughout my body, which I can only describe as hand grenades exploding within my body, extreme weight loss and nausea, I was diagnosed firstly with lymphoma and then Polyarteritis Nodosa.
The following 4 years of my life consisted of having chemo every 10 days, every time i was taken off the chemo I relapsed, it was only when my bone marrow became damage and I was unable to tolerate any more chemo that I was offered a different treatment. Immunosuppressant’s, for the few years I went through the full spectrum of Immunosuppressant’s which at the time were only being used for transplant purposes, however it seemed my body became tolerant to these drug and eventually I would relapse.
I was now time for me to start my own investigations into my illness I contacted a professor in the Norfolk and Norwich Hospital and was invited down for investigation, after the usual bone marrow biopsy Sural Nerve Biopsy and Muscle Biopsy certain autoimmune illnesses were ruled out, however no diagnoses was given so Prof sent me down to the Hammersmith Hospital in London, where I was first given the diagnosis of Cattleman’s Disease and started high dose Steroids in combination with Thalidomide, however every time the Steroids were reduced I relapsed.
Around this time the genome project was starting to take shape and a study of my genes took place, where it came to light I had 2 gene mutations G678E/V704I I was then given the new diagnosis of Periodic Fever Syndrome, and referred to the Addenbrooke's Hospital, my new treatment was Thalidomide in combination with Colchicine which had no effect on my illness and I continued to get worse.
I was to be offered a new drug called Infliximab, a monoclonal antibody which for a time put me into remission, however again my body became tolerant to the treatment and I went through a number of monoclonal antibody treatments including Etanercept all of which helped for a short time.
Addenbrooke's Hospital was a long way from home so my Prof suggested I saw a professor in the Freeman hospital in Newcastle which was much closer to home.
MY new Prof suggested I go to the Royal Free Hospital in London to seek advice from a Professor with a view to starting a new treatment called Anakinra.
So off I went to the UCL National Amyloidosis Centre at the Royal Free Hospital, after tests and more gene studies I was finally given a diagnosis of FMF, I started on Anakinra and went into immediate remission, for the first time in 25 years a was able to reduce the Steroids and eventually come off them, I was like a new man.
But wait the gene defects I have are both novel mutations and it wasn’t long before the daily injection of Anakinra was not enough to keep me in remission so I am now on 2 daily injections and am please to say I am over 24 months relapse free and living a normal life, whatever normal is lol.
I could have gone into more details of my illness but I know it would end up writing a book.
Written by matt63, published 20 days ago.
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