A Nottinghamshire man was given a 'one in a million' diagnosis when given a CT scan following a zip line accident.
Adam Tate, a lecturer from Stapleford, was told he had Fahr's disease following the accident in 2014. He has now set up his own charity to help others with the condition.
He said: "I was taken to hospital for that [the accident] and it was an incidental finding. During that time there was a CT scan to check if I had a brain injury from the zip line accident. I was then told by my GP that the radiologist said I had got something called Fahr's disease."
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Adam, 31, was told he would lose movement within two years and likely be dead within eight years. In 2015 and 2016, Adam was referred to John Radcliffe Hospital in Oxford for further testing. However, due to his young age, they did not commit to giving a definite diagnosis of Fahr's.
He said it led to "a bit more confusion". In 2018 Adam was invited to participate in the 100,000 genome project to have genetic testing to determine if he had a rare disease. It was not until three years later that Adam received the results.
Adam said: "It was confirmed that genetically I had Fahr's and not only did I have a rare disease, I was the only person to have the particular variant of Fahr's. It was seven years of have you got it, haven't you got it. In 2021, it was confirmed."
Fahr's disease is degenerative and is often described as being similar to Parkinson's. It can be a deterioration of motor function, dementia, seizures, poor articulation of speech, stiffness or lack of movement in the limbs, eye impairments, and involuntary writhing movements of the body. Age of onset is typically in the 40s or 50s, although it can occur at any time.
Adam, who is a lecturer at Nottingham Trent University, added: "One in a million people are diagnosed with it but that rate of diagnosis is really poor. By that logic there is 150-ish in the UK with it. It is thought if we got the diagnosis process correct, there would be about 80,000 people with it in the UK. Still not a massive population impact."
In 2016, Adam established the charity Fahr's Beyond as a result of feeling alone in his diagnosis and being given "generic" support. He said: "Something generic about a very rare disease is not useful. I thought I am in a position where I can do something, I am a fighter and a person who is proactive. I thought lets start a charity and get something out there."
Fahr's Beyond has supported patients across the UK and internationally and is believed to be the only charity for Fahr's. Adam added: "It is incredible important because it provides a hub for patients to speak to likeminded people who might have gone through similar things, to see that inspiration that a diagnosis of Fahr's is not a diagnosis to stop living life."
Adam's charity work resulted in him being awarded a British Citizen Award for services to healthcare. He said: "[It was] incredibly humbling to be one of 29 people to be honoured at the House of Lords, it was very inspiring. It was very humbling and awe inspiring."
Fahr Beyond trustee Alison Webb has been working for the charity since 2020 following her mum's Fahr's diagnosis. She said: "It was a very late diagnosis and we knew something was wrong for a very long time but due to the lack of awareness, the diagnosis was very delayed. We found out in the May she had Fahr's and she passed away in the October, so very little time to come to terms with what she had been diagnosed with."
It took four years for Alison's mum Carmen Garcia Lorezco to be diagnosed with Fahr's. Throughout that time it was thought she may have Parkinson's or dementia, which are symptoms of Fahr's. It was not until she had a seizure which was originally mistaken for a stroke, that she got the diagnosis.
Upon getting a diagnosis, Alison, 39, was amazed at how little resources were there to help patients and their families. She said: "I was looking around frantically online to find out what is Fahr's disease and make sense of all the literature. I came across Adam's charity and got in touch with him from there and offered my help.
"It was just really confusing, usually when a loved one gets a diagnosis and there is a wealth of information out there, sometimes you will get given information from the doctors themselves that gets printed out to take home. We didn't get any of that, it was very isolating and confusing."
Alison, who is from Leamington Spa, found the lengthy diagnosis "frustrating". She added: "It was frustrating because we knew there was something different in mum. Sometimes we would get frustrated with her because we didn't know what was happening. It's disappointing because we felt like we could have been there for her more. It's really sad that it was that way." The family never got the chance to test if Carmen's condition was genetic.
Alison is now using her experience to help Adam's charity Fahr Beyond. She said: "I find him [Adam] amazing and he is so inspiring to me. Just to be going through what he is going through himself and to then have the energy to have so much drive to keep pushing it forward. He has done so much himself to bring the charity to where it is now. It makes me feel very proud that he is fighting everyone's corner."
Speaking of his final diagnosis, Adam said it was a "double-edged sword". He added: "Not only had I got a diagnosis but I had got a diagnosis of a disease that can't be cured. In some sense, relief because for all of those years I had not been able to access the support and although a lot of it was the efforts of the charity, I was more confident there was at least a bit of support there that was not there in 2014.
"There are times when you get the black dog of depression and think why me. Why did this happen, why couldn't I lead a so called normal life? But at the same time, we all have our own different challenges in life."
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