Lucy’s Story

My name is Lucy. I am 49, the mother of two teens and I have Relapsing Polychondritis (RP). RP is a painful, degenerative, multi-systemic, potentially fatal, mostly invisible and chronic rare disease that primarily affects cartilage. RP causes arthritis, heart, lung, eye, ear, skin and nervous system problems. Statistics about the incidence of RP vary, but it is thought to affect about 1-3 individuals per million people – I like to say I always knew I was one in a million!

In January 2018, I felt a lump on the back of my head. I then developed a multitude of seemingly unrelated symptoms and became very unwell. I was fortunate to have excellent medical care but after many tests, months later, my doctors were still no closer to a diagnosis. My ophthalmologist raised RP as a possible diagnosis. At first glance, it didn’t seem to fit my strange array of symptoms, but I came across a documentary called RP – The Ride of My Life. After watching this documentary, I was absolutely convinced I had RP.

As RP is such a rare disease, my doctors had never seen a case so they couldn’t be sure. There are a few RP experts in the world, so in 2019, I travelled to London to see a professor of rheumatology. It is hard to explain the emotions I experienced that day; desperate for a diagnosis and in disbelief about where I had ended up. When the doctor confirmed I had this terrible and potentially life-threatening disease, I was cheering in my head! For me, having a diagnosis was so much better than not knowing.

There is no cure and the treatment for RP can be difficult to access and comes with serious risks and side effects. Although I cannot live the life I had planned, I try to make it count and face the obstacles with good spirits. The physical challenges and constant ups and downs take a lot of mental strength to get through. It can be hard to find that extra bit of mental energy, especially when my RP life wears me down. My family and friends are incredibly supportive, especially my husband and our kids. I know that having a sick mum makes my kids’ lives harder, but it has made them mature and more compassionate. I am so proud of their independence, empathy and kindness.

Access to a team of experienced medical professionals such as my general practitioner, 12 specialist doctors, nurses and allied health professionals provides me with excellent care. Having a rare disease, I have become somewhat of an expert in RP, which is necessary as so little is known about the disease. It is not unusual for me to have to explain RP to doctors, nurses, health students and anyone who will listen! Every one of these conversations raises awareness.

With a rare disease, it is vital to be surrounded by a team of medical professionals who are willing to work together with me for the best outcomes. I am grateful for my medical team, especially when my health is not heading in the right direction. Raising awareness about rare diseases and especially RP is my mission. My journey has been challenging and my future is uncertain. Although my life is restricted in many ways, I still try to live a full and happy life. If my story helps someone else to get a quicker diagnosis, access to treatment or a better understanding of RP and rare disease, I know I can keep going. Even when life is painful and overwhelming; hopefully with some style and good humour too!