Eddie & Grace's Story: Family Matters

Siblings Eddie and Grace found themselves thrown into an unusual and unexpected situation when Eddie started displaying signs of Addison’s disease, whilst Grace was studying Addison’s at medical school. This kick-started a journey that brought them closer together and completely changed how Grace works as a doctor. Here they share their experiences from Eddie’s diagnosis, the impact the diagnosis journey had on their relationship as siblings and Grace’s doctor training.

Just a bad tummy bug? Eddie’s experience

It was scary for me; I've been through other medical diagnoses in the past, but nothing like this. I remember being at university and not knowing what was wrong, thinking it was just a bug or COVID. However, when I came home for Christmas, my mum was really concerned. She saw me and could tell something wasn't right; she knew before I realised myself.

Once settled at home, I just crashed. I couldn't eat or drink without throwing up. We went to the doctor’s multiple times, but each time I got told that I just had a bug. They seemed to dismiss me because I looked young and healthy. It took us about three weeks to finally be taken seriously and have some bloods tests taken. I don't remember much about what happened next; I was rushed into hospital and was eventually diagnosed.

Missing the obvious? Grace’s experience

The summer before Eddie’s diagnosis was the first time I started to notice anything unusual. Due to COVID, we were both back living with our parents, and I was studying hard for medical school finals. Eddie, on the other hand, was waiting to start university and, in my view, was enjoying a relaxing summer.

He kept having dizzy spells that we put down to dehydration. He was incredibly tired, which I put down to teenage laziness. And as for his grumpy mood… he was my younger brother, what did I expect! However, something about his new ‘tan’ intrigued me. He never seemed to go outside, and yet his hands looked as if he’d spent hours on a sunbed.

I kept thinking about suggesting he go to the GP, but the absurdity of going to the GP for tanned hands and the constant mantra of my revision that ‘common things are common’ was ringing in my ears. Somehow, I was sitting in one room, revising the symptoms of Addison’s, whilst Eddie sat in the other with exactly that.

It was around 6 months later that Ed had his crisis, and the penny dropped for me. I was left wondering how on earth I’d missed it, and if I could have done anything to help him earlier.

An Addison’s education

3 years later, Eddie and I got together to have a chat about everything we went through, both together and individually. For Eddie, the months after diagnosis are a bit of a blur. He doesn’t remember much of what happened, but can remember how he felt. He describes feeling left out. He describes feeling useless. He describes feeling alone.

Although family were all around him at that time, none of us could really understand what he was going through. He’d had to leave university and all the friends he’d made. He was so exhausted he could hardly walk. He’d had to completely rethink the way he lived his life.

He describes how initially he wanted to push people away and dwell on all the things he’d lost. He felt that he suddenly had to mature to cope with his new illness. Everything was suddenly different, and no one around him could really understand."

However, we also talk about how things have changed over time. He’s now back at university, works 4 days a week and is back in the gym - all things that seemed impossible when he was first diagnosed. He’s had to adapt some things in life, but he’s found that focusing on what he can do, not what he can’t, really helps.

For me, as his sister, however, the time after his diagnosis was completely different. I had passed my exams but was left feeling less prepared to be a doctor than ever before. For the first time since my training began, I’d had to sit on the other side of the doctor’s cubicle. I’d felt scared, disorientated and often just plain confused. I suddenly realised that amidst all my lectures, placements, exams and stress, I’d lost sight of what it could feel like for the people I was treating.

Furthermore, despite being taught throughout training that rare diseases are, well, rare, I’d had to face the reality that they did still occur. Eddie was unavoidable proof of that. There was so much to learn in medical school that, of course, we were encouraged to focus on learning about the things we’d see most. But I was left wondering,

How could I care well for people with rare conditions that I might only have read about once? How could I avoid missing things like Eddie’s doctors did? And how, most of all, could I protect Eddie from doctors missing things for him in the future?'

ADSHG and Medics For Rare Disease

In trying to process everything that happened, I came across both ADSHG and M4RD (Medics for Rare Disease). Our family have had much valuable information, support and reassurance from ADSHG, and I use their professional resources to bolster my medical knowledge!

Because of the ADSHG, Eddie now goes to appointments armed with information, and we know how to advocate for him when he’s unwell."

Information for your appointments

Medics for Rare Disease's resources allowed me to completely re-educate myself about rare diseases. Their online learning gave me a toolkit to care well for anyone who comes in with a rare condition. They kindly took me on for a summer internship the year after Eddie’s crisis, and ever since I’ve been working with them to try and further their mission of teaching all doctors to be ‘rare aware’!

We spoke about our experiences on the Medics for Rare Diseases' podcast, which you can listen to below.

Getting to know you

Although the Addisons' journey has been tough, it has gifted us a better relationship. I’ve gradually learned that my role in Eddie’s life is to be his sister and not his doctor. Sometimes what he needs is a big hug and a listening ear, not more questions or suggestions. Eddie, on the other hand, has had to learn that sometimes it’s okay to need help. We chatted about how difficult it was for him to talk about his diagnosis to begin with, but how slowly he’s learning that talking sometimes really helps.

Every day’s a school day

Despite everything that’s happened, we’re both learning new things about Addisons', and each other, all the time! In finishing our conversation, we shared with each other some of the most important practical things we’ve learnt so far.

Eddie’s top tips:

Use apps, phone alarms and pill boxes to remember daily tablets. A daily pill box easily highlights if you’ve forgotten them!
Have an easy-to-carry injection kit. Eddie uses the ADSHG kit and puts an 'Airtag' inside. This helps him find it when it's misplaced and also sends him an alert if he’s left it somewhere!
Set up a medical ID! Ed uses his phone for this, but has also had jewellery in the past. Medical ID could be the difference between life and death in an accident, so find something you’ll keep with you and use it.

For me, however, my main 'take-away' is much simpler. Walking alongside Eddie has shown me exactly how hard it can be when your health worries aren’t listened to by your healthcare team. I now try to walk into every appointment more ready to listen than I am to talk.

Eddie is now an engineering student in Plymouth
Dr Grace Knight is a resident doctor who volunteers as a M4RD Clinical Ambassador

Medics for Rare Disease 101 platform

Medics for Rare Disease 101 module is an online educational platform for healthcare professionals, launched in 2021, aiming to reduce the Diagnostic Odyssey whilst improving the rare patient experience. The eight-lesson course addresses the basics of rare disease and the shared challenges that people with rare diseases face, especially when accessing healthcare. It includes information that the average medical professional may not be aware of, with many stories, examples, tools, websites, knowledge sources and images from the rare disease community.

Dr Lucy McKay – CEO of Medics4RareDiseases, comments:

Thanks to Rare Disease 101, medical educators can no longer skim over rare disease because of a perceived irrelevance. A patient group of 3.5 million people cannot be left off the medical curricula and Medics4RareDiseases providing the model with which to deliver this education

The ADSHG are delighted to be featured in section 8 of the module, "Support and be supported by patient advocacy groups". Our aim at the ADSHG is to increase medical awareness alongside providing information and resources for our medical community, which they can easily access to support their patients with Addison's disease and adrenal insufficiency.

Check out Rare Disease 101