Evolution. Life After My Rare Disease Diagnosis.

Evolution. Life After My Rare Disease Diagnosis.

Rare Disease

 

When I put pen to paper (or fingers to keys) I did not know what I was going to write, I had no plan or agenda. I just wanted to tell you what it has been like living with my conditions. It was 20 years ago when I was diagnosed with my first rare disease. 300 million people are living with a rare disease worldwide. There are over 6000 different rare diseases with 72% of them being genetic, and 70% of those genetic rare diseases start in childhood.

I have Ehlers Danlos Syndrome and Charcot Marie Tooth Disease which are both genetic and both started in childhood – although were not diagnosed until my 20’s and 30’s. But that is not the point of this story. Looking back on my life over the last 20 years since my first diagnosis I don’t recognise the woman I was before, or who I became in the beginning.

I have evolved. This is my evolution.

 

Mother and daughter zebra standing facing each other with their heads touching (as if they are hugging)

 

Evolution

 

I never understood why people wrote in diary’s and documented their life when I was younger, I saw it as a complete waste of my time.  Plus, I would NEVER want anyone to find them and read my inner most thoughts and secrets, they were safer in my head for sure.  The parties, the people, the outfits, the hairstyles, the things that I thought were a great idea at the time… things that I’m glad were a phase.

Those times were fun but I am happy with the blurry half memories of the good bits and the laughter.

Then in my 20’s after I had not long given birth to my first child, in the midst of the hormones, the tiredness and a carrying around a body that decided not to work I was diagnosed with Charcot Marie Tooth disease.

My life as I knew it changed that day.

The outside world never saw it… I think that I hid it well? But right there in that moment I only really heard the words progressive, hereditary, incurable.

Who was I now? What did this mean? For me, my baby, my husband? Would he leave me? I wouldn’t blame him. Would I have more kids? Should I? When would I stop walking? How much pain would I have? Could anyone answer my questions? My inner voice was on a constant loop, noisy, frightened and ineffective.

I decided to pretend that I was OK, I hoped that by pretending it would become my truth. But the worry of the future and the grief for the life that I thought that I would live was like a vice around my chest every day.  So much so that I couldn’t take a proper breath.

I felt its weight as a pressure that I had to fight against every single day.

I had surgeries, I got through them.  I had more kids and with each one and with time it got a little lighter but it never really went away.  I became a master at not letting it show and learnt how to share my space with it.

What all this did take was energy, and this really was a problem.

Fast forward another 10 years and I was a mum of three.  A good mum, wife, we had a nice house, a good car, I really loved my husband and he really loved me. Phew!

But most of the time I was tired, like wading through mud and I hurt A LOT, an overwhelming pain where I wanted to cry most days. Which just made planning anything impossible and generally living quite tough, or it certainly felt that way.

We knew that our youngest has something going on, she was 18 months old and despite trying hard couldn’t walk.  She was not lazy.  She tried desperately hard to keep up with her brothers but when she stood sometimes her feet would actually face backwards. So we took her to a top Dr at a top children’s hospital… we paid.

In that appointment we were told that ‘she was within normal limits’. We knew better. But what really struck me, almost like lightening from the sky as I stepped out onto the pavement from that hospital was ‘Oh! this is not going to be easy’.

In that moment I woke up. In that moment a fire ignited in me that started like a flicker but in time would become a furnace inside me, a fire that would expand in me and allow me to breathe fully again. In that moment my little girl didn’t just have a mum I became her cheerleader, her advocate, her person.

Not long after that I began to write. Not a diary, but about things that happened to us; dance shows, hospital visits, holidays, tests and all the diagnoses that followed. My writing became a way for me to process my thoughts and as I did this I began to feel again. This had been the missing piece.

Over the last 10 years to be able to cope with my life I had shut down. Because I was living in my head, I was not able to feel in my body – because to feel in the beginning would have been overwhelming, unbearable.  Shutting those emotions out was my way of keeping me safe, but when you shut out the sad, angry, messy emotions you also shut out joy, happiness… you stop feeling – anything.

Writing let me process my thoughts and know that they are just that… thoughts.  They are not truth.  I had a choice about how I viewed my world.  I could view it through shit tinted spectacles or choose to see it another way.  I chose to see things differently.

And this has been the magic.

This is where I took back control.

Slowly I went back to re-write the circumstances of my own diagnosis, story by story and looked at things through a new compassionate lens.

Mindset became my secret success hack.

As I dealt with the past my focus was only on the present and the future. We can get so caught up in what has happened or what might be and tell ourselves stories about what may or may not be true we stop seeing what is true. What is right in front of us. What we have.

The day I lit that fire was the start and writing added fuel to that fire, so did the love of my husband, my children’s laughter, my family, the broken health and education systems, a glass of wine on a Friday night with my best friend, my kids diagnoses’, injustice, the sunrise on a frosty morning, a cup of tea, great sex, my son getting sick with ME and all the goodness in the world.

This ignited my fire for life again… all the messy, f**ked up, emotional parts of life that are just that – real life.

I don’t know when it happened, I suppose it was gradual process, but the vice loosened its grip till one day it had completely gone and I hadn’t even noticed. It wasn’t like a switch that flipped or a conscious decision that I made just one day I thought ‘Oh that’s not a thing for me anymore’.

I’d found myself again and I was showing my kids how to love deeply, live freely and advocate like a MF tiger.

Looking back helps you to see how far you have come, living there is not healthy.

Celebrating that is empowering.

Life will never be perfect. That is life. In accepting that, there lies the freedom.

 

More Information

The National Organization for Rare Disorders (NORD)

Ehlers-Danlos Support UK

Charcot Marie Tooth UK

 

Are YOU ready?

 

Deciding that you are ready to strive toward your goals and take control of your life is one hell of a big deal.

Are you ready for the acceptance that brings you freedom, to stop shutting out your messy emotions that are keeping you safe, to be brave?

Let me introduce you to my signature coaching programme CHRONICALLY EMPOWERED – and we’ll customise it together just for you! (No obligation).

CHRONICALLY EMPOWERED WOMEN

 

Our private Facebook group is a safe place for women with long term, chronic illness or disability (or those who are carers of kids with chronic illness).

It is a space to be you, to be honest that you want more than this, to be honest about not knowing how to start. A place where we can lift each other up and support each other. Where you can share your story and where we can inspire each other with our wins.  It’s about understanding that life can be tough but also that we can do hard things. About recognising your own unique superpowers! Come and join us… we’d love to have you. 🙂

Emotional Mastery In Chronic Illness… Lessons From Disney’s Frozen

What if the thing you really want is hiding right where you are afraid to look?   This week my daughter turns 12.  I am not quite ready to accept that she is ALMOST a teenager - my sweet little girl is turning into a bright and sassy young lady. For a birthday...

Evolution. Life After My Rare Disease Diagnosis.

20 years ago I was diagnosed with my first rare disease, but this story is not just about diagnosis. Looking back on my life I don’t recognise the woman I was before, or who I became in the beginning. It changed me then allowed me to evolve, this story is my evolution.

Overwhelmed? 8 Steps To Feel Calm And In Control When You Have A Chronic Illness

It happens to everyone no matter how many hours we have in a week, how supportive our families are or how great we are at delegating. Everyone. No one has there shit together all the time no matter how much  they pretend that they do. But when you are living with a...

I’m Fine… What the f**k does that even mean?!

I’m fine. I used to use this reply all the time when people would casually ask me how I was. Short, sweet and to the point, but what does 'I'm fine' even mean?  The dictionary would have you believe that I was feeling 'in a satisfactory or pleasing manner or very...

EDS And CMT One In Twelve Million

Does it make me special? One in 12 Million... the odds of having both hypermobile Ehlers-Danlos syndrome (EDS) and Charcot Marie Tooth Disease (CMT), based on current prevalence! Some days it feels pretty special, let me tell you why. I’m not going to dwell on the...

The A-Z of Ehlers Danlos Syndrome (EDS)

The A-Z of Ehlers-Danlos syndrome (EDS). Simple, jargon free and real. From adrenaline highs, mast cells and slipping rib syndrome to the zebra mascot.  If you have EDS or know someone that does these thing will sound familiar. But, do you know everything there is to...

Acceptance – Why it is so important when you have a chronic illness?

Acceptance in human psychology is a person's agreement to the reality of a situation, to be able to recognise a process or condition (in this case a chronic illness or health condition) without attempting to change it or protest it.  In simple terms getting your head...

Managing Chronic Pain Without Medication

7 golden steps to manage your chronic pain I have lived with pain for as long as I can remember, it’s now chronic, it’s never going away. I have Charcot Marie Tooth disease, a neuromuscular disease that affects the motor and sensory nerves to my arms and legs, you can...

Rare Conditions – The Importance Of Supporting Mental Well-being

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...

8 Ways That Imposter Syndrome Shows Up When Have A Chronic Illness Or Disability

Have you ever felt like you don’t belong? Like any second now your friends or work mates will discover that you are a fraud? Do you ever think that your successes are attributed to luck, rather than your own skills or qualifications? Or, do you try to keep more and...
Rare Conditions – The Importance Of Supporting Mental Well-being

Rare Conditions – The Importance Of Supporting Mental Well-being

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.

 

Picture of a zebra with the text 'Do you have a rare condition? The importance of supporting mental well-being'

 

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.

quote 'you need to learn to work with your health 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.

Emotional Mastery In Chronic Illness… Lessons From Disney’s Frozen

What if the thing you really want is hiding right where you are afraid to look?   This week my daughter turns 12.  I am not quite ready to accept that she is ALMOST a teenager - my sweet little girl is turning into a bright and sassy young lady. For a birthday...

Overwhelmed? 8 Steps To Feel Calm And In Control When You Have A Chronic Illness

It happens to everyone no matter how many hours we have in a week, how supportive our families are or how great we are at delegating. Everyone. No one has there shit together all the time no matter how much  they pretend that they do. But when you are living with a...

I’m Fine… What the f**k does that even mean?!

I’m fine. I used to use this reply all the time when people would casually ask me how I was. Short, sweet and to the point, but what does 'I'm fine' even mean?  The dictionary would have you believe that I was feeling 'in a satisfactory or pleasing manner or very...

EDS And CMT One In Twelve Million

Does it make me special? One in 12 Million... the odds of having both hypermobile Ehlers-Danlos syndrome (EDS) and Charcot Marie Tooth Disease (CMT), based on current prevalence! Some days it feels pretty special, let me tell you why. I’m not going to dwell on the...

The A-Z of Ehlers Danlos Syndrome (EDS)

The A-Z of Ehlers-Danlos syndrome (EDS). Simple, jargon free and real. From adrenaline highs, mast cells and slipping rib syndrome to the zebra mascot.  If you have EDS or know someone that does these thing will sound familiar. But, do you know everything there is to...

Acceptance – Why it is so important when you have a chronic illness?

Acceptance in human psychology is a person's agreement to the reality of a situation, to be able to recognise a process or condition (in this case a chronic illness or health condition) without attempting to change it or protest it.  In simple terms getting your head...

Managing Chronic Pain Without Medication

7 golden steps to manage your chronic pain I have lived with pain for as long as I can remember, it’s now chronic, it’s never going away. I have Charcot Marie Tooth disease, a neuromuscular disease that affects the motor and sensory nerves to my arms and legs, you can...

8 Ways That Imposter Syndrome Shows Up When Have A Chronic Illness Or Disability

Have you ever felt like you don’t belong? Like any second now your friends or work mates will discover that you are a fraud? Do you ever think that your successes are attributed to luck, rather than your own skills or qualifications? Or, do you try to keep more and...

How I Fake My Chronic Illness Symptoms

I fake my EDS symptoms all the time. Every day. For as long as I can remember. It is second nature, it's why I am so good at it.   Now I don't mean I'm faking the symptoms of my condition, making them up, exaggerating them, they are very real to me and they are...

Overcoming Imposter Syndrome – Journaling your feelings

Last week I spoke about Imposter Syndrome, you can read about it here - What is Imposter syndrome and Do I have it? The first step in overcoming Imposter Syndrome is to acknowledge what you're feeling, and why. Start by keeping a journal or writing down your thoughts...

Join The Community

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!

When you join the Tribe you can find your SELF CARE GUIDE FOR SPOONIE’S available in the files to download.

The 10 minute guide to understanding that self care is far more than having a bubble bath and lighting a scented candle. Why it is important to plan for if you have a chronic illness or are caring for someone who does and, a handy checklist to get you started with great self-care practices to support yous physical and mental health and that fit who you are!

 

Pin It on Pinterest

Pin It on Pinterest

LET'S CHAT