Every person diagnosed is potentially a life saved

Growing up in the countryside, there wasn’t a tree I couldn’t climb, or ditch I hadn’t jumped. I’ve never broken a bone and rarely get the flu. You’d never have guessed I had a hereditary disease, but I do.

In 2013, I was diagnosed with Hereditary Haemorrhagic Telangiectasia (HHT), a genetic disorder of the blood vessels. Basically, it means that some of my blood vessels are abnormal and don’t carry blood properly, causing them to rupture. A small one is called a Telangiectasia and a big one is called an Arteriovenous Malformation (an AVM).

The small ones don’t cause too much trouble, but an AVM in one of your organs can lead to serious complications and, in some cases, death. HHT has no cure, but it can be treated.

In my case, it all started with little red dots. My mother developed some on her face and hands. They weren’t really noticeable, but were sore and would bleed sometimes. She asked various doctors but they couldn’t explain them.

Unhappy with this, she turned to the internet and found a website about HHT.

Symptoms included red dots on the hands and face, in the mouth or eyes. They also included nosebleeds.

So, internet diagnosis in hand, my mother contacted the Mercy Hospital in Cork and was asked to come in for tests. Since HHT is hereditary, she brought me too.

Thankfully, my mother was given the all-clear for AVMs, but my echo came back abnormal. This means I have AVMs in my lungs. At the moment it’s OK, because they’re small, but I have to get tested again in a few years and if they’ve grown I’ll have to have surgery.

Considering what some HHT sufferers go through, it’s appalling that it is so unrecognised.

There are 1.4m sufferers worldwide, and yet the Mercy Hospital in Cork is the only hospital in Ireland you can get tested.

With that in mind, it’s time for HHT sufferers to speak up and create awareness. After all, every person diagnosed is potentially another life saved.

This year is a year of action for #HHT. Learn more: http://t.co/bYftj3mJXq pic.twitter.com/zpJsbhLbeL

— Cure HHT (@curehht) January 17, 2014

HHT — the facts

— HHT is a genetic disorder of the blood vessels.

— Approximately 1.4 million people suffer from HHT worldwide making it uncommon, but not rare.

— The main symptoms are nosebleeds and red spots on the hands or face, in the mouth or eyes.

— If the affected blood vessel is small, it’s called a telangiectasia. Telangiectasias most commonly occur on the face and hands and lining of the nose and mouth. They are the cause of the red dots and the nosebleeds.

— If the affected blood vessel is large, it’s called an arteriovenous malformation or AVM.

— These commonly occur in organs such as the lungs and brain. These can lead to serious complications such as brain haemorrhage and stroke.

— There is no cure.