Georgie’s Story

2022 wasn't the start of being physically unwell that started when I was 16 back in 2004 but I was constantly misdiagnosed throughout my life or medically gaslit and told it was all in my head and that continued even after I was diagnosed with Amyloidosis. 

I was born with Amyloidosis as it is a hereditary type but also a type that has never been seen in the world before. The genetic change is unique to my mother’s side and my mother’s gene line has an inframe gene deletion of Exon 12. 

My family started Gene testing back in 1997 when I was only 9 years old. This Gene testing came about as my family had been losing their lives to spontaneous bowel perforations, 2 generations before mine. 

My mother was diagnosed along with one of her brothers in 2021 but at that stage the geneticists didn’t have a name for our disease and my family was misdiagnosed with a novel form of EDS (Ehlers Danlos Syndrome). I was asked by my mother to be tested as out of all three of her daughters I was the mostly medically complexed and mostly with no answers to why I was so unwell. 

It took 11 months to see the specialist and then a further 4 months for the results and suddenly on 28 October 2022 we had a name for the disease from my testing as I was positive for the gene change. 

Our family history spoke for its self as this disease had claimed so many of my family members’ lives and here I was facing the same disease along with my mother and deemed terminal with a disease nobody knew anything about and couldn’t help me in anyway. 

I was suddenly living on borrowed time and told to make memories... 34 years old with a disease nobody knew and a few days later was informed that I was being placed on palliative care which massively came as a shock and was referred to the National Amyloidosis Centre in London. 

I met with the palliative care nurses and as they didn't know my disease it was very difficult to work together and following my first visit to the NAC who again didn't know my type of Gelsolin Amyloidosis they began to medical gaslit me and wrote in medical records that bowel perforations wasn't apart of this disease I felt like I was banging my head against a brick wall again but this time it wasn't just me being Medically Gaslit it was my whole family. It took me just over two years to stop us all being medically gaslit and have the truth acknowledged. 

As the years went on I got sicker, I went through many tests with specialists that had some idea of amyloidosis to find out that I have nerve damage throughout my body which has been the cause of my chronic pain and to be told it wasn’t all in my head has been the most bittersweet experience of this disease. My joints began to be attacked with swelling and awful pain again to do with amyloidosis and I was referred to the chronic pain specialist who referred me to the local hospice. 

I refused hospice care at first but after I had my last visit to the NAC in June of 2025 the consultant stated that even the NAC couldn’t help me and all anyone can do now is give me a quality of life and keep me comfortable. Through pain and constant tears and trying to accept that everyone had given up I had no choice but to accept hospice care. 

It’s been very difficult for my brain to accept the complete extremes of experiencing medical care. To be told for 20 years it’s all in my head to then be diagnosed with a rare form of Amyloidosis but for it to be even rarer as no amyloidosis specialist has seen our gene change before and to be terminal and be referred to a hospice has been the most confusing experience of my life. I became my own fighter and advocate to be heard by medical professionals as I knew I was unwell but never did I believe it was this extreme or deadly.