Now more than ever before it is important to support both mental and physical well-being in people with a rare disease diagnosis. Rare diseases affect approximately 3.5 million people in the UK (Rare disease UK), a condition is considered to be rare if less that 5 in 10.000 people are affected.

I have three conditions that fall into the ‘rare’ category, Ehlers-Danlos syndrome, Charcot-Marie Tooth Disease and Postural Orthostatic Tachycardia syndrome. I was at the front of the queue when they were handing them out, clearly! I now have my very own ‘rare’ children and work to support others with rare or chronic conditions as an NLP coach.  It is safe to say being a rare mum is just part of who I am.

One of the things I hear time and time again from other rare disease patients is how hard it is to secure their diagnosis in the first place, often taking years, sometimes decades to find out the name for their collective symptoms. Can you imagine that? Really. Think about how long it has been since the COVID pandemic started, feels like forever, right? Stuck in limbo, not having the answers, wondering what the outcome will be? Trying to stay positive but really a bit fed up. Imagine that is your health you are waiting for the answers to, in limbo, not knowing and probably feeling generally rubbish and scared.  Even the experts don’t have the answers. And it isn’t just months, but for years.

There are many reasons why this is the case.

Have you heard the phrase ‘When you hear hoof beats, think horses not zebras?’ In medicine, the term zebra is used with reference to a rare disease or condition.  Doctors are taught to assume that the simplest explanation is usually correct to avoid patients being misdiagnosed with rare illnesses. Doctors learn to expect common conditions but many medical professionals seem to forget that “zebras” DO exist and so getting a diagnosis and treatment can be more difficult for sufferers of rare conditions.

True in my case, it was 26 years after I was first hospitalised unable to walk before I got my first ‘rare’ diagnosis, and a further 10 before the pieces were put into place for the second and third.

Often conditions have similar general symptoms making it hard to pin them down, this coupled with the fact that doctors are trained NOT to look for the rare conditions in the first place makes diagnosis times even more lengthy.

Waiting times to get to get to specialist services is often long, between 3-6 months is not uncommon, often longer, and when you do get there you may then have to be referred on to someone else.

We are human, so sometimes the symptoms we present with may not be typical. As these conditions are rare and therefore not something that practitioners are seeing day in day out, not being the ‘text book’ definition just confuses and delays things further.

In my daughter’s case having two conditions caused a non-typical presentation, delaying her diagnosis. Even though she likely had the conditions that I had.

Most rare diseases are complex and chronic, potentially life-threatening and go hand in hand with reduced quality of life. There is no surprise that there is an increase of mental health problems reported in rare disease patients and their families.

There is often a small network of care available as the condition is so rare, where patients often rely of charities for support and information.  Many doctors that you see will never have heard of your condition, let alone treated someone with it, so you will have to become the expert in your own condition.

There is also the problems associated with the visibility (or invisibility) of many rare conditions which often leads to misunderstanding amongst medical professional, family and friends.

Many people have a real adjustment period after diagnosis where they will experience a range of emotions as they come to terms with what their condition means for them and their life.

In a recent report on the mental health effects of living with a rare condition, campaign group Rare Disease UK found health professionals’ attitudes played a major role. The findings showed that 88% of patients and carers saying poor awareness of their condition by health professionals had a negative impact on their mental health, while 80% were negatively affected by health professionals not believing them. Read more about how medical gaslighting can fuel this here.

With the physical and mental elements of rare conditions are so intertwined it is my opinion that care should focus on supporting people with their emotional well-being and their everyday lives, not just on the physical symptoms.

Due to the nature of rare diseases patients are burdened by persistent symptoms which impact their quality of life leaving them overwhelmed.  If people are not supported, then this can lead onto anxiety and depression.

I believe that early support is vital. Support to manage the emotions surrounding diagnosis and acceptance and help developing a toolkit to manage their symptoms and overall wellness.  With flexibility, strength and resilience you are able to cope with the curve balls that your health will inevitably throw at you.

To learn to work with your illness not against it.

This view is echoed by baroness Blackwood the minister responsible for rare diseases, she has been lobbying to raise awareness after her own experiences during a 30-year wait to be diagnosed with Ehlers-Danlos Syndrome (EDS).  “Early diagnosis of a rare condition is extremely important. Not only does it end the often very stressful and exhausting diagnostic odyssey for a patient, it also means they can get the support they need much earlier, including for their mental health. We want to see a more holistic approach where treatment for mental health conditions is more closely integrated with the rest of a patient’s care.”

Patients that have had to fight hard for a diagnosis have often had to fight for the justification from professionals that their symptoms are physical and real. They may be reluctant to accept any help for their mental wellbeing. Either they feel they have come this far on their own so they don’t need professional support or they are firm in their beliefs that no-one is going to tell them it’s all in their head. Either way people that would truly benefit from support to process their emotions and thoughts surrounding the impact that their health condition has on their life and move forward positively, will likely refuse it.

This year the NHS has been stretched, at points often beyond capacity so while we are making progress on this in the UK I anticipate that it will take time leaving rare disease patients in limbo.

Coaching can bridge the gap in this service.  For pro-active patients willing to take control of their wellbeing a good coach can provide a non-judgemental space to explore emotions and ways to deal with issues that are stressful, frustrating or overwhelming. To help you to focus on what you are still able to do, rather than what you’ve lost and work with you to with you to identify and pursue new interests which will give you a sense of purpose and meaning. Sometimes, what you need more than ever is someone to support you with your medical team, helping you to prepare for appointments, ask the right questions and to understand what they tell you.

A coach is all these things and more and often obtaining this kind of support at the right point in the journey can mean that accessing mental health services further down the line may never be needed.

I love to talk about coaching and I am super passionate about advocating for rare and chronic conditions. If you want to have a conversation about how this may help you please book a call.

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The Thrive Tribe is a community of women who have chronic illness.

You may feel like no-one understands what its like living with your chronic illness or worrying everyday about your kids. That you are hanging on by a thread or the future may feel a little uncertain. In The Thrive Tribe we get that.

You value life and want to be the best version of you. To manage your symptoms effectively so that you can live your best life.

In the community we will be having real, open conversations about how you can do this. With my experience of living with multiple chronic illness’ and raising kids with CMT, EDS, PoTS and ME. I know that the struggle is real. I will be sharing guidance, challenges, my personal tips and real life stories to remind you of how this can become a reality now!

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