Join us as we celebrate Rare Disease Day 2022
Although I was born with Hereditary Haemorrhagic Telangiectasia (HHT) it wasn’t until I was 43yrs that I got a diagnosis. I was hospitalised for several days after a major haemorrhage from my nose. I had all 4 of the criteria of this disease. I spent my life growing up thinking this was just part of my life, my dad’s life, and my brother’s life. I knew my Grandad, my dad’s father, had died at the age of 52yrs – long before I was born – with bleeding on his lungs but that was as much as I knew.
I had just lost my dad to Lymphoma 6 months prior to this and also lost my only brother 5yrs prior, so it was down to myself and husband to do some research.
I attended ENT regularly for the nose bleeds for the next 3yrs after this incident, constant bleeding followed by constant cautery. But these bleeds weren’t normal nosebleeds. They were fierce, they were unexplained, the kind that were unstoppable, the kind that could take your life.
I had been trying to get holiday insurance with no luck at the time and had mentioned my diagnosis from ENT Dept for HHT and my research was flagging up a rare, genetic blood vessel disease that required urgent scans and monitoring. However a visit to my then GP left me with a litany of questions – “did you pick your nose?”…..” you couldn’t possibly have this disease” ….”it’s too rare”….”Who told you this?“…”I’ve no clue where to refer you to” etc. And so I started to realise how difficult it was to live with the debilitating symptoms of a rare disease. I was starting to realise I had to make my voice heard over the sea of professionals.
In August 2014, I collapsed while out walking my dogs with a Pulmonary Embolism (P.E.) and Deep Vein Thrombosis (DVT). I was thankfully found lying in a neighbour’s garden by a passer-by, and although this could have been potentially fatal, it turned out to lead me in the direction of The Haemophilia Centre at Bridgewater Suite, Belfast City Hospital. It was here that I tested positive genetically for HHT and continue to be tested due to a link to Lymphoma from my late dad and his brother who has HHT.
Hereditary Haemorrhagic Telangiectasia is a rare genetic blood disorder that affects the blood vessels with 50% risk of passing it onto your child. It doesn’t skip a generation, you either have the gene or you don’t. HHT patients have blood vessels that have not formed and cause spontaneous bleeding both internally and externally. Arteriovenous Malformations (AVMs) are a tangle of abnormal blood vessels that can form in our brains, lungs, liver, gastric tract, and bowel. The frequent loss of blood leads to iron deficiency anaemia and more serious haemorrhaging and possible loss of life. Sometimes it’s as simple as bending forward, a change in temperature or stress that can bring on a bleed. It’s a progressive disease and there is NO CURE. My biggest fear is that the next bleed won’t stop and being alone when it happens. In the meantime, I’m on a 24hr helpline at my local Haematology Unit. I have a marker at my address for a priority 1 ambulance or the help of a paramedic. For the last 6yrs my GP at Rosehall is always at hand for emergency help and urgent blood tests.
Although each HHT patient has the disease, we are each affected differently. I have severe nose bleeds, mouth bleeds, gastric and bowel bleeding, I have bleeds from my eyes, mouth and arterial bleeding from my finger. Every day I experience frequent degrees of blood loss from somewhere. I have had a total hysterectomy and am on blood thinning drugs permanently as I also clot. There is a fine line between bleeding to death and clotting to death.
An example of how much awareness can help – we now know that cautery can cause more trauma, which in turn makes us bleed more. It’s a simple technique to stop a minor bleed but if you’ve HHT it can cause a lifetime of trouble.
The disease should be managed with frequent iron infusions and blood transfusions as required.
A big shout out to all those people who take the time to donate blood. This is life saving for us.
