Rare Diseases Day blog 2024 V2

My Story – Life with a Rare Disease

A rare disease is a condition that affects fewer than 1 in 2000 people in a population.
Rare conditions are often difficult to diagnose due to limited research and can therefore be difficult to treat.
This Rare Diseases Day, Jenny takes to our blog to share her own route to diagnosis.

I started falling over nine years ago. Facebook time hops show pictures of my new running trainers, post Zumba class snacks and photos of me running around at the park with our four small children. A middle-aged healthy mother.

As my falls became more frequent, I was often in pain with bruises everywhere. In one weekend, I fell to the floor three times. Something had to be wrong with me. I went to the doctor and was referred to a neurologist at the local hospital.

The neurologist listened to my symptoms and concerns but did not do any tests and told me to ‘be more careful’ when walking. I came away feeling that I was making up my symptoms. The following day I fell down a flight of stairs at our dentist, I screamed in pain and felt foolish, as I clearly was not being careful enough.

I went from running three times a week, with an eight-mile run being my Saturday break from my young children to shorter runs and then walks around the village, tailing off to not exercising at all. It was just too hard, and I was injured too often. Even holiday photos from this time show me smiling on my NHS crutches.

Over the next few years, things continued along the same line, with my legs giving way at random points and my falls getting more frequent. I avoided stairs and walking, whenever I could. I remember the kindness of the other school mothers, who insisted on taking my primary school kids to and from school for me, especially when the pavements were icy.

March 2020 marked not just the national lockdown but the time when my condition developed rapidly. Within days I was numb from my feet to my chest but also had intense nerve pain in my legs and feet. A pain which was present all day and ramped up to terrible levels overnight.

Nerve pain is when damaged nerves send back the wrong sensations, aka lightning strikes, running water, intense cold, or roasting heat. Nerve pain is difficult to treat, so accepting that you will always be in pain is essential to living your life well.

I lost touch with my organs, which means I am no longer hungry, need the bathroom, or feel the temperature of the room I am sitting in! I have strategies to deal with these things, I eat at set times, time my bathroom visits and medications, and I’ll ask my family about the outside temperature before getting dressed. It is very strange to sit in the sunshine without feeling the heat of the day, to feel the wind and wonder if it is a warm breeze or a bitterly freezing wind.

My GP was concerned, and I was lucky enough to be fast-tracked through A&E and for a specialist neurology appointment at a larger specialist hospital. Their tests found nerve damage and my current consultant explained to me, why my body was attacking the nerves in my legs and arms.

I was diagnosed with a rare pure sensory neuropathy known as Dorsal Root Ganglionopathy, acquired following an unknown autoimmune disease. My condition is diagnosed in fewer than ten people per year in the UK, so extremely rare!

There is no formal treatment, though immune suppression treatment is offered with the hope it will stop the progression of this condition. Alongside nerve painkillers, these are drugs for other conditions, which are used for nerve pain. They help take the edge off the nerve pain.

So, for now, I am functioning well, and holding down a full-time job with a supportive manager. My manager ensured that I have an up-to-date Workplace Passport, which outlines reasonable adjustments to my role and takes into account my condition. For instance, I can arrange time off with very little notice which really helps during flares, and working from home permanently saves me the discomfort of commuting into the office. Recently my manager advocated for me to attend an external training course remotely, which meant I avoided a long difficult day travelling by train, I manage my pain levels, and tiredness, and deal with my flares as positively as I can. Having support from work makes the difference between being able to hold a full-time job down successfully and struggling to work on the hard days.

For mobility, I use a wheelchair, as I am limited to unsteady steps with double crutches. I call my chair Bea (Be) short for ‘Be Free,’ as that is what my chair gives to me - freedom!

I am sharing my story to show how hard it is to get a diagnosis with a rare condition, and how common experiences of not being understood by GPs and consultants are, as your symptoms do not match anything they know.

I cried in relief when I found out what was wrong because I had convinced myself, that I was to blame. That somehow, I was making my body hurt so much and fall so often. Knowing that I had a real condition, helped me accept my symptoms and get on with my life.

As for the future, I have a loving husband and four wonderful older children and that is all I need to be happy.

Find out more about Rare Diseases Day and how you can show your support.