I am, at the time of writing, a 69-year-old part time property developer who has been living with symptomatic Kennedy’s Disease for about 29 years.

I first started developing marked neuro muscular symptoms at the age of 40 whilst serving in the armed forces.  They became sufficiently severe by the age of 43 that I resigned from the military and started a new career in property, where I could control my own working hours.

Over the next 20 years I visited my GP many times due to muscle weakness, peripheral neuropathy, cramps, gastrointestinal issues, and gynaecomastia.  I was subjected to many invasive tests and referred to my local Neurologist.   No diagnosis was forthcoming.

At the age of 63 my Neurologist finally gave me a diagnosis of idiopathic neuropathy.   He suggested that many of my symptoms were down to health anxiety and lack of fitness.  He suggested  I see a psychotherapist. After six sessions with a private therapist,  the therapist concluded that my symptoms were not hypochondria and undoubtedly due to an underlying physical illness.   He suggested that I have them investigated further.

I took myself to a private Neurologist in London and, following nerve and muscle biopsies,  I was given a provisional diagnosis of Kennedy’s Disease. This diagnosis was quickly confirmed by a genetic test.  Having a definitive diagnosis, albeit a not great one, has been, in many ways, helpful.  It has helped me plan for the future, and it has dramatically reduced my trips to my local GP!    I was not aware that Kennedy’s Disease was in my family which partly explains the length of time it took for the illness to be diagnosed.  It was also very evident to me that just about all General Practitioners, and many regional Neurologists, have little or no knowledge of the disease.  I am in very little doubt that the disease is being routinely misdiagnosed.

At the time of my diagnosis both my daughters were pregnant, which added to the stress of the diagnosis. As women only ever have mild symptoms of Kennedy’s Disease the genetics means that both my daughters are carriers of the defective gene.  My two granddaughters have a 50% chance of being carriers and my grandson has a 50% chance of developing the illness.

Once diagnosed, I was referred to the specialist Kennedy’s Disease Clinic at the National Hospital for Neurology and Neurosurgery in London.  This clinic, which is run roughly one day a week by three research Neurologists, a Clinical Research Nurse, and a Clinical Research physio, sees Kennedy’s Disease patients once a year and helps them plan their disease management.  It is also the UK hub for collating Kennedy’s Disease research data and for managing new drug trials. The Clinic is able to refer people living with the illness into University College London Hospitals for specialist care but has limited ability to refer  them into other hospitals.

Up until a couple of years ago, the London Clinic provided me with all the support I needed.  The Clinic works well for patients in the early stages of their illness, who are able to make the trek to London.  Unfortunately, as Kennedy’s Disease progresses travel to London, for people who live outside the home counties, becomes very difficult. I am now in that position.

I have found accessing regional care/support for the illness to be challenging, largely because  there is no NHS treatment pathway for Kennedy’s Disease.  I understand this is a common problem with all rare diseases. My GP referrals to local physiotherapists, hydrotherapy, speech and language therapy, and respiratory specialists have invariably led to only a couple of sessions with the therapist/medic before the rules meant the therapists were obliged to ‘sign me off’.  I have then had to go back to my GP to try and access further sessions.

I eventually managed to improve my access to care by being referred to to a Neurologist at a regional Neuroscience Centre.   I now have better access to good quality regional care through the centre, and I can now self-refer to some specialists.     At present, I can still manage the 60-mile drive to the regional centre, but I am very aware the time will come when travelling will become difficult.

I do find it a bit disconcerting that care is much more accessible for people with less advanced disease than it is for people with advanced disease. I look forward to the day when access to local care ramps up as the disease increases in severity.  From my experience, Kennedy’s Disease patients need to be prepared to fight hard to ensure they can access the local care they need.

I do not allow my Kennedy’s Disease to rule my life.  I am still working part time at the age of 69 and I focus on the things that I can do as opposed to those I have had to give up.  It could be an awful lot worse.  With a positive outlook, and some planning, you can have a high quality life after a diagnosis.