We take breathing for granted – until we cannot do it anymore…

I specifically use the term “living with rare diseases” because I firmly believe the existence of them is alongside me, they are a part of me, without them, I wouldn’t be me, yet they do not define me and I most certainly do not ‘suffer from them’.

I started this blog around a year ago, in the format of a book, one which I still wish to write. The appetite to write was there, the reluctance to publish it and to put my thoughts out there was met with my own fear and hesitation, that someone would say, who do you think you are? you’re not ‘a blogger’ and mostly the fear that by sharing ones thoughts creates a vulnerability that cannot be taken back, but then someone (Instagram: @lucyhitchcock_) said to me, if my story makes a difference to just one person, then it is 100% worth putting pen to paper so, for that advice Lucy, I am grateful.

Sunday 28th February is Rare Disease Awareness Day so I thought this would be the best day to launch this…

Along with other health conditions I have Hypermobile Ehlers Danlos Syndrome or ‘hEDS’ (which isn’t probably as rare as we think, but under diagnosed). It is a genetic connective tissue disorder leading to pain, fatigue along with frequent sprains and dislocations. If you see me in real life and want to see a party trick I will pop a joint (of the skeletal variety naturally!).

I have Mast Cell Activation Syndrome (MCAS) which is essentially where my mast cells are produced in my bone marrow in normal quantities but when released they release too many chemical mediators and one of these are histamine, now these are necessary for the functioning of the human body but not in the quantities I am producing them. Put simply, my immunologist said they were the highest she had seen in her career. If you know me, you know if I do something I like to do it well, here is no exception!

A student Nurse asked me recently what MCAS was, I said, imagine your mast cells being released from your bone marrow in balloons and then someone comes along and pops them all. The histamine comes rushing out like lots of people in a club, they’re dancing, they won’t calm down, they’re getting drunk and super rowdy. The medication to control MCAS (Mast Cell Stabilisers and anti histamines) are the bouncers. They try to gather them, to control them and to get them to calm down but the ratio of dancing people versus bouncers is too high so they continue to have a rave in your body. You are the designated driver, you want to go home, have a cup of tea and sleep but they want to continue to party.

I also have severe Tracheomalacia. Congenital Tracheomalacia is present from birth and babies/children can grow out of it. It is rare in children and even rarer in adults. In a nutshell my airway collapses 75-100% when I breath out and the symptoms can often mimic anaphylaxis, with the absence of tongue swelling/flushing/itching etc. There is a theory that the hEDS, MCAS and Tracheomalacia are all linked, the robust research is not yet present but as my specialists said, I would be really unlucky to have three genetic conditions.

“I don’t need this s**t in my life.”

“F**k this, I’m outta here.” on seeing my nebuliser

“so are you always going to have to take tablets? you can come off them right.”

“I know you don’t like walking but its not that far.”

“Your airway collapsed, trust you.”

“What a drama queen.”

“Oh you poor thing, do you manage to get out of the house?”

“Blimey I don’t know how you even live with that.”

“Oh these people, who want these special illnesses.”

“Gosh, I bet you don’t even leave the house.”

These are just a few of the comments people (whom are no longer part of my life) have made. Sadly three of these comments were made by health professionals. Now I have a fairly dark sense of humour, trust me, its what gets you through the days when your airway is trying to kill you again, so family and friends will joke with me about how my body is utterly ridiculous, which it is! and that’s Ok, because they know where the line is, they know when to bring the humour and when to bring the compassion.

So what is good to say to someone with a chronic or rare condition?

“I hope you’re ok”

“I’m here if you need to talk”

“Your feelings ARE valid”

“You are NOT a burden”

“You are loved”

“You’ve got this s**t handled”

…and any other normal thing you would say to someone who doesn’t have a rare disease.

If you don’t know what the illness is and you want to know more, just ask, because most people living the rare disease reality will be an expert in their own condition.

There was a time when the staff in resus knew my name, I constantly had a bag packed in the car and my senses continually scanned any environment for any potential trigger. I have had 19 anaphylactic reactions in the last three years. Since a diagnosis and the treatment with mast cell stabilisers, I have had just 4 in the last year, a win that I will take any day. These however are not withstanding the daily allergic symptoms of some angry mast cells despite medication. The impact on ones body is at best uncomfortable, at worst feels like torture but is guaranteed to be unpredictable and exhausting.

The one thing I struggle with is that, when it comes to allergies, MCAS and an airway that can’t behave and stay open means it can’t just be treated, managed and forgotten about. It is there at the forefront all of the time. Because if it isn’t, quite frankly, it could kill me and there’s no escaping that fact.

I got to the point where I referred to my anaphylaxis as “Drive thru anaphylaxis”, often being treated in resus, stepped down to majors and home within 6 hours. It is often safer to treat me, stabilise me then get me home ASAP because there’s too many triggers in a hospital.

The problem is, I often resume normal activity just hours later, the picture above a prime example, just 12 hours after an anaphylaxis, being super productive because of the drugs still remaining in my system only to physically and emotionally crash a couple of days later when I realise, and I quote my friend Soph (insta; @allergic.2.life) that I have achieved once more, thankfully my 100% survival rate.

What I have realised, is that I am OK, but that it is possible to be OK, a little bit broken and a lot scared all at the same time. And this doesn’t make a person weak, it makes them human and resilience comes from carrying on despite the trauma, but also pulling on your support systems when needed.

Emotions and healing are not linear, sometimes you’ll get thrown backwards, but its important to keep heading forward. We never truly see the whole picture, what someone is facing and managing on a daily basis. All of us are likely to know someone with an illness, and some of us may know someone with a rare disease. I would urge you, if you know someone who has something you don’t understand and you would like to know more, just ask them about it. To start with you will educate yourself, you will help breakdown barriers and in addition you will help your friend to be seen, to be heard and to feel less alone.

Finally, the disease itself is a tiny part of a person, albeit sometimes overwhelming. As healthcare professionals we are privileged to care for people at their most vulnerable but we must never forget the life that runs parallel to the circumstances that present in front of us.

Kizzy x