miércoles, 15 de enero de 2014

A life changing diagnosis - Amyloidosis community - RareConnect

A life changing diagnosis - Amyloidosis community - RareConnect

Online Communities for Rare Disease Patients
Amyloidosis is a life changing diagnosis

A life changing diagnosis

This is simply my story from finding a lump and finally being diagnosed with amyloidosis
Written by brigidpress, published 17 days ago.
A life changing diagnosis
My journey of amyloidosis discovery started with a series of severe fevers towards the end of November 2012. I had an extremely high temperature, pains and cramps across my lower back, down the back of my legs, calves and into the bottom of my feet. It lasted a week, went away for a week and then came back again. Somewhere in the middle of this I woke one morning with a raised linear lump down the centre of my tongue and no energy whatsoever. I was a physically active outdoor person, running my own plant nursery and teaching horticulture. I also worked for the BBC as a weekend presenter for a local radio show, so my tongue was quite an important tool for me.
From this moment to being diagnosed with Light Chain Amyloidosis (localised) took ten months. It was a long, frustrating and in a bizarre way an interesting road, having at first been told that it was probably just a wart (!!) on my tongue, but I had an amazing oral surgeon who took out the lump (ouch) and was the first to gleefully (she had never diagnosed one before) tell me what I had. At the time I was just so relieved to hear the words 'its not cancer' that it took a while to sink in that it was still something that was going to alter my life. The consultant referred me to the haematologist who performed a battery of blood tests to determine (in vain) what type of Amyloidosis I had, but who finally sent me off to the National Amyloidosis Centre at The Royal Free Hospital in London . I have to say, that although very frightening and intense, that experience at NAC was so very thorough, done with courtesy and professionalism. Thankfully I have one of the rarest forms of amyloidosis, and one with the best prognosis in the fact that it doesn't appear to be systemic and whenever it pops up it should be able to be cut out. I have had a slow growing lump on my Achilles tendon which is just beginning to limit long walks, I shall have to get someone to have a look at it. It is apparently another classic deposit site. I also had a ganglion like lump at the base of my left hand ring finger which got larger over a period of four months and was painful on use (it was making raking and digging difficult). Fortunately it disappeared suddenly. The lower back pain and energy depletion never went away but some days is better than others. I don't know if this is connected to the disease or whatever I contracted at the start of the process. I try and push myself to get out for a walk everyday. When I don't feel like it, the dog pulls me out!
I am currently awaiting results from the renal department in my local hospital after having scans on my kidneys and urinary tract because of the high creatinine levels in my 24 hour urine test. I have my yearly return two day appointment at the Royal Free Hospital in London booked for the end of September 2014. I am not so frightened this time as I know what to expect. I may eve take in some of the sights of the big City this time (I was too nervous and worried, and simply not in the right frame of mind to do so last time)
Although being told that I didn't have the hereditary form of Amyloidosis it does seem to have affected other close family members. My younger brother has been having neurological problems, allergies and sleep apnoea. He teaches at an international school in Thailand and had himself tested (much simpler process over there but you do have to pay) for amyloidosis...his light chain levels were higher than mine. My father has just died of early onset (atypical) dementia which he suffered from for twenty years. His actual dementia was never pinpointed as early on in his illness he spent a lot of time passing out and was fitted with a pace maker. This prohibited any further investigative scans. There were medical discussions about the effects of working in the heavy metal industry, or malaria drugs (Larium in particular) and Amyloidosis opened up another possible cause. My mother made the difficult decision with my fathers care home and doctor to have a post mortem done in order to determine the type of dementia. She has a scientific background and really wanted to know if there was a possible link to amyloidosis (or not). Unfortunately when it came to it the coroner refused to perform the post mortem as her tick list was satisfied with stopping at 'dementia'. Two of my father's brothers died in their fifties of myeloma type illnesses, one which had been told that he had high protein levels in his urine but that it wasn't anything to worry about. His two sons have also been found out to have the same high protein levels in their wee.
There is more to this disease than meets the eye, and I personally believe that there is a lot more of it out there but its not being picked up quickly enough, and being masked by or misdiagnosed by the 'greater organ deterioration'. I want to make the world aware of its existence and would love to hear everyone else's stories to try and put pieces together for others who's lives it may touch. I have had appointments with both the oral surgeon and the haematologist, not for further tests, but because they wanted me to come back and tell them more about amyloidosis and how I had got on down in London at the Royal Free Hospital.
I have made changes to my life so that I put the emphasis on enjoying every minute. I have sold the plant nursery and work part time teaching horticulture, but continue the Radio work on Sundays as I get so much fun out of it and meet some wonderful people. I make more time for my family and intend to have holidays. I eat loads of fresh fruit, especially pineapples and pawpaws (as they contain a protein dissolving enzyme). I have swapped my white wine for red, my coffee flask for one with Echinacea and green tea. I recognise the bad days when I have little physical energy and try and do things more cerebral so that I don't feel as though I have wasted any time. »

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