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Patient Experience: Living with multiple rare diseases

Published on 17/02/20 at 11:59am

Carole Scrafton discusses her experience living with Ehlers-Danlos syndrome alongside other rare conditions that have manifested throughout her life, and introduces her charity FibroFlutters, which aims to reach out and help others living with rare diseases around the world.

Can you talk us through each of your diagnoses? Rare disease patients often relate the difficulty in finding diagnoses or even medical professionals who have heard of their condition. This must have been even truer in your case?

Obtaining diagnosis for the chronic pain and musculoskeletal problems was difficult.  I was a member of an athletics club from the age of six, so I was exercising regularly until 16 years old. The fact that I was so fit and exercised masked the connective tissue disorder known as Ehlers-Danlos syndrome (EDS), a rare genetic condition. Most people with EDS are known to have other rare conditions, which in my case over time has become true.

When I was born in 1973, it was noted that I had certain qualities such as pes cavus – feet with bent toes on each foot – and was monitored until 10 years of age because they didn’t know if my toes would need to be straightened or not. Whether my walking or balance would be affected as a result of the deformities were the main concerns. At five years of age the dentist recorded my small palette, a known marker for EDS that was missed, and they removed four of my teeth to make room for my adult teeth as my mouth was not big enough.

At 13 years of age, I was diagnosed with mild scoliosis of the spine; again, another marker for EDS that was not noticed. I was sent for physiotherapy and the doctors decided that the cause was my bag as I was a papergirl and it was too heavy. Severe acne throughout teenage years led to me being placed on a clinical trial for Roaccutane at the age of 15. Having skin conditions that are difficult to manage are also known to be associated with EDS, and I also had problems with eczema when I was younger. This was followed by scalp and ear psoriasis aged 19 onwards.

My knees began dislocating at the age of 16, and hypermobility is another key marker for EDS, but the exercise had kept my joints ‘safe’, so no problems occurred until I stopped exercising as much, and this caused my joints to become looser and less supported.  Falling over has always been a problem and I have broken many bones.

Aged 19, after complaining of lower back pain for a number of years, an X-ray showed that I had spina bifida occulta (SBO) and a rare sixth vertebrae. The doctor told me that the SBO was fairly common and wouldn’t cause me any problems; however, it is now listed as a rare condition. He made reference to never knowing of anyone to have a sixth vertebrae and SBO, which classifies me as being rare.

In my 20s and 30s, other issues became apparent, such as balance and coordination problems, coupled with vertigo that I inherited from the maternal side of my family. I also suffered from irritable bowel syndrome (IBS) and gynae problems.

It took another 20 years to be diagnosed, aged 39, with benign joint hypermobility syndrome (EDS and fibromyalgia). After undergoing major surgery to fix a rectocele and enterocele with Grade 3 intussusception, a rheumatologist read my entire medical history and made the diagnosis. In fact, he told me that the bowel and gynae disorders were a result of the genetic connective tissue disorder, as well as most of the health problems that I was experiencing. 

Overall, my 20-year journey involved many appointments with physiotherapists, orthopaedics, neurologists, gastroenterologists, dermatologists, pain consultants, mental health doctors and general practitioners. I was diagnosed during that time as having a borderline personality disorder, long-term anxiety disorder, undetermined long-term musculoskeletal disorder involving hypermobility, and long-term chronic pain disorder. I was constantly made to believe that it was all in my head, tests and X-rays never flagged anything up, doctors assumed that there was nothing wrong with me and I was making it up, where in reality they couldn’t determine what was wrong with me. Now I’m an adult and suffering due to the EDS going unnoticed for so long, the combination of health conditions classifies me as a rare case, not just someone with four rare diseases.

Given your experiences, what do you think can be done to ease the healthcare experience of someone such as yourself, given the impact that your conditions have had on your everyday life?

Healthcare experiences would be easier if patients were able to see a team of specialists to assess all the conditions at the same time, instead of one-by-one as each condition arises. This means that you cannot stop one condition for another to begin; they all share symptoms and co-morbidities and, in essence, they frequently trigger each other to flare up if the environmental conditions are right.

The only way to treat my conditions are through management processes, coping strategies, and learning how to do things differently. For instance, I take medications for pain, but follow pain and fatigue management protocols; I have had anxiety management and am constantly monitored for mental health. Treatments are few and far between because there isn’t much that they can do for me. I’m not allowed to exercise like normal people, and that would normally be a great treatment. This creates a huge sadness in me as I come from such an active background. My hypermobility is extremely problematic now that I am older, so pacing myself is essential as a preventative measure.

At the moment, I am seeing biomechanics because of my balance and coordination problems, along with my hyper-flexible ankles, and the fact I stumble and fall over a lot. The treatment involves being fitted with orthopaedic insoles and being monitored for improvements. I am referred to a physiotherapist and the falls team if things do not improve.

At the same time, I am seeing a gastroenterology nurse due to having bowel problems as a result of the connective tissue disorder. Treatment involves many things such as learning how to sit on the toilet correctly, eating at the right times, and developing routines, as well as biofeedback exercises.

I became unemployable due to my illnesses being unpredictable, which is why I have built FibroFlutters (FF) into what it is today: advocacy has become my vocation. 

Can you tell us a bit about FibroFlutters and your work within it?

FF is a local support group of which there are five founding members including myself. The organisation operates across a network of social media channels that includes our website.

My co-founder, Vicky Green, and myself were both diagnosed with fibromyalgia and EDS three months apart in 2013. Although FF was set up to fill a void for fibromyalgia, which was an unclassified condition, we decided we needed to meet our own needs, having rare genetic connective tissue disorders. The rareness of our conditions didn’t really sink in. 

We aren’t just looking at EDS anymore; we now advocate as a voice for those with rare diseases, as well as for research and clinical trials. We’re helping to get patients involved in trials and working to improve patient engagement with the Patient Focused Medicine Development, where  we’re busy designing and building toolkits for pharma and other stakeholders to use to introduce patients into trials.

FF has been campaigning for a ‘multidisciplinary’ approach to medical healthcare since we began back in 2014, when we were originally a fibromyalgia-based support group – a condition which often includes IBS, depression, chronic pain, migraines, and more by means of co-morbidities and a need to see a team of doctors, not just one. We support a variety of charities and organisations, and work as campaigners across our network, helping to market and promote the work that they do.

As someone engaged in advocacy work and as a rare disease patient yourself, what key advice would you offer to others who may be struggling with a diagnosis, or even a lack of one?

Don’t give up, keep diaries of your conditions, and join support groups if possible. Research for yourself, but don’t ever self-diagnose; if you suspect you have a condition, take the information and speak to your GP about it.

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