About
My Rare Journey
My Rare Journey is developed by OpalMedica, a medical technology company focused on rare conditions. We build tools that support earlier diagnosis and transform lived experience into structured insight to inform research and innovation in rare conditions.
Why We Exist
Lived experience is not always systematically captured in the data that informs research and diagnostic development. By contributing your story, you help ensure that efforts to improve diagnosis better reflect real patient journeys.
Our Innovation
Our innovation includes OpalMedica Clinical Flags, a patent-pending medical device (CE marking in progress) designed to help GPs identify patterns in patient symptoms that may indicate a rare disease and support earlier referral to specialist care.
* My Rare Journey is not a diagnostic tool and does not provide medical advice. If you are concerned about your health or symptoms, please speak to your healthcare professional.
Tell Your Story
Share your diagnostic journey
Your experience navigating a rare disease diagnosis is valuable. Our guided survey captures the moments that matter, from first symptoms to confirmed diagnosis, so your journey can inform research and help others find answers sooner.
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Connect with others who understand
Join safe and moderated disease-specific forums. Where patients, caregivers, and advocates share experiences, offer support, and build meaningful connections.
Explore communitiesKnowing what to do changed everything
I was diagnosed with HAE about three years ago, but the first year was still rough because I didn't have a proper action plan. I'd have an attack, panic, go to A&E, wait hours, and sometimes the staff hadn't even heard of HAE. One time they tried to give me adrenaline for what they thought was anaphylaxis. Everything changed when I got connected with a specialist centre. They gave me on-demand treatment to keep at home, taught me to recognise the early tingling that means an attack is starting, and wrote a letter I carry in my wallet explaining my condition to any healthcare professional. The attacks haven't stopped, but my relationship with them has completely changed. I go from the first sign to treatment in minutes instead of hours. I've even managed a mild throat attack at home, which a year ago would have sent me straight to hospital in a panic. For anyone newly diagnosed: the right specialist support makes an enormous difference. Don't settle for being managed by someone who sees HAE once a year.
The stomach pain episodes
Before my HAE diagnosis, I was investigated for everything: IBS, Crohn's, endometriosis, appendicitis. I had these episodes of severe abdominal pain with nausea and vomiting that would come on suddenly and last a day or two. I even had an exploratory laparoscopy that found nothing. A haematologist finally put the pieces together when I mentioned that I sometimes got hand swelling around the same time as the stomach pain. Apparently abdominal attacks are one of the most commonly missed presentations of HAE. I'd had dozens of episodes over nearly a decade before anyone considered it. I wanted to share this because I know there are people out there being investigated for GI conditions who might actually have HAE. The abdominal symptoms can happen without any visible swelling at all, which makes it even harder to spot. If this sounds familiar, please ask your doctor about complement testing. It's a simple blood test that could change everything.
Swelling that came and went
My first major HAE attack happened when I was sixteen. My lip swelled up so much I could barely talk. A&E assumed it was an allergic reaction and gave me antihistamines, which did nothing. The swelling went down on its own after about two days. Over the next few years, the pattern repeated. Random swelling in my hands, face, sometimes my throat. Every time I'd go to hospital, they'd say allergy. I started keeping a food diary, avoiding new products, basically living in fear of the next episode. It was only when my dad mentioned that his sister used to have the 'same thing' that a doctor finally tested my complement levels. Getting diagnosed was a turning point, but honestly the hardest part was accepting that this would be lifelong. The attacks are less scary now that I have an emergency plan, but the unpredictability still gets to me sometimes. Anyone else find that the mental side of HAE is almost harder than the physical?
It explained more than just me
My son was diagnosed with Fabry disease when he was nine. Looking back, there were signs from early childhood. He avoided hot food, hated sunny days, and would sometimes just stop and hold his feet with this look on his face that I now know was pain. After his diagnosis, I started reading about the genetics and realised my father probably had it too. He passed away from kidney failure in his fifties, and nobody ever connected the dots. It's a strange feeling. Grief mixed with understanding. Being a caregiver for a child with a rare disease is isolating in ways I didn't expect. Friends are sympathetic but they can't really relate. I'd love to hear from other parents or caregivers in this community. How do you explain the condition to schools? How do you balance being protective with letting them just be a kid?
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Every diagnosis journey is different and every one of them counts. Share yours to help shape the future of rare disease research and increase the speed of diagnosis for others.