Blog post #13 Living with Rare Disease with Respiratory Involvement

In this blog post I write about my lived experience of rare disease and the challenges this brings as I have learned to accept and appreciate my adapting life. It includes information about:

• Diagnosis
• Respiratory Disease
• Loss and Adapting
• Inclusivity Working

When I was first diagnosed I had become used to delays in diagnosis and not being believed. It is an unfortunate fact in my life having struggled with endometriosis. But my new disease was visible. I thought, wow! I can see this, I hope I can find what it is. It was a very specific visibility too as my ears were red, splitting and sore (but not the lobe). Sadly a quick diagnosis wasn’t to be. Eight years later after another tiring fight, being told it was anxiety (again), stress impacting on my health further, I had my diagnosis. A rare disease called relapsing polychondritis which affects 3 in a million, tied all my symptoms together and I began my treatment path looked after by amazing specialists in London I still have today. The symptoms were considered individually before: very painful joints, nasal sores, hoarse voice and my ears as detailed above. The UK charity is a useful resource: About RP | Relapsing Polychondritis Awareness & Support

Then, during lockdown, in a pure coincidence, I developed respiratory symptoms. I struggled even to eat and breathe, getting up from sitting was like running a sprint. And I knew this as I had been sporty, playing hockey, badminton, enjoying long walks before I became disabled. I worked hard for a charity in the office and at home. When you grieve for losing these lifetime things we take for granted it is an emotional rollercoaster. When you get hit by another illness it happens all over again. You have to adapt and accept another level of pain and problems to reground yourself and set your normal limit higher.

Society dictates a very defined way of contributing. It is refreshing that Cripping Breath and my other coproduction work is at last restoring our value and ways of differently working so we are all inclusive.

It was frightening not being able to breathe. I was alone. I was shielding. After my specialists diagnosed my Tracheobronchomalacia quickly I became part of the system waiting for my treatment until I needed A&E locally. This time I thought I have my diagnosis, I have instructions for my treatment so I somewhat optimistically went in the ambulance. But, hence, it was the usual, being told I was anxious, wasting time, that I couldn’t possibly have Tracheobronchomalacia, until I produced my diagnosis letter kept in my emergency bag and they called my specialists on my insistence.

That is the reality of living with rare disease. Relapsing Polychondritis is announced regularly as an unbelievable phrase when I am admitted to hospital. What does this do to the patient?

To start with being admitted is something I avoid at all costs. I don’t want to be away from my home, routine, work and comfort. Sleeping in hospital is a literal nightmare. I know it will be a long while before I can access my medication, including pain relief, as I wait for assessment and this means my pain goes through the roof. My disease is invisible so I am always left stranded on the hospital bed not being able to get up, without my wheelchair and without help. But it’s the weekend, the GP is closed, 111 direct me to an ambulance and I need antibiotics before sepsis takes over, I have to go.

Having your disease announced as a question, or as a joke (sic), as you lie in a hospital bed, unable to move, is upsetting. It is a trigger to the times you struggled to be believed, all of the tests which came back normal, the persistent severe pain you thought was in your head. You beat yourself up thinking you must be able to do what you did before. Ultimately it puts you back into the low point of the grief cycle, stuck, not accepting your illness because you don’t know what it is or it is being questioned. This in turn affects your mental health severely. Imagine having unexplained symptoms which cannot be defined so you’re expected to carry on as usual.

And this all happens when you are in need of extra urgent help and care.

Now I live with my disease/s instead of suffering. It is a phrase brought to me from a friend who is a life-saver. 

I follow my treatment plan but struggle in different medical settings as I have no care plan despite trying to get one; I have my own homemade one as a consequence. Ventilation is a key part of my management. It was frightening when I started, I had to request to be shown how to use it. But, I took to it straight away. My body was in need of ventilation so much it just accepted it. I have a CPAP machine and it supports my collapsed trachea and bronchi. My disease attacks and destroys cartilage throughout my body so my airway is floppy. It is like breathing through a straw. When I breathe out my airway closes when it should stay open.

Tracheobronchial involvement of relapsing polychondritis - ScienceDirect

I have a daytime CPAP too but because so little is known about my rare disease it is difficult to know how to treat it. Coughing is a big part of my symptoms and coming off nighttime ventilation from lying down is a nightmare. I have to clear my chest. If I put my CPAP back on it makes this worse and more prone to infection. So my team are trying to help with different drugs and inhalers which can’t support my airway but can help me to cough. Every morning is a fight to get used to being up before I go to bed again as I digest 40 medications a day and try to keep them down.

All of the adaptation, positive spin and living in the present drives me to make a difference to others and enjoy my playtime around work. Living with rare disease is a path of uncertainty so I have to embrace change and love each moment.

With more funding rare disease can be supported. There are 300 million people in the world with rare disease so combined rare becomes less rare. Advocating for us including with Cripping Breath is driving change, increasing awareness and providing a future for generations ahead. It is both exciting and valuable to be involved in peer-led, personalised change together with medical professionals, patients and carers.