I was almost 40 when eventually diagnosed!
I truly believe that if members of your family have a history of unexplained and recurrent nosebleeds, you need to have a conversation about getting checked for HHT. I come from a family of bleeders – my father, granny, aunts and uncles all suffered from nosebleeds – but we just assumed it was a family trait
The nosebleeds usually start when you’re a child, they can get worse as you grow older and are lifelong. There is often a tendency to dismiss nosebleeds as not being serious, but they really should be called nasal haemorrhages because they’re not always little trickles. It’s also important to point out that many people have healthy nosebleeds, so we have to be careful not to upset or scare anyone.
While I regularly suffered from nosebleeds as a child, they became more serious from the age of 25 until my mid-40s.
I remember having to be taken out of the exam hall when I was doing my Leaving Cert Irish as I bled all over the place. They had me lying on the floor in the girls’ toilets, but I just wanted to get back in to finish the paper because I needed the points!
In 2000, a segment on the Late Late Show changed everything for my family and me. Dr Adrian Brady, from Mercy University Hospital in Cork, appeared on the programme with the father of a little girl who had tragically passed away from HHT. Her condition had only been diagnosed after her death.
My dad had been watching it and told me that a helpline number had been given out on the show. I had two children who were nose bleeders so I didn’t have an option – I knew I had to arrange to have a genetic blood test.
I contacted the HHT National Centre that had been set up in the Cork hospital by Dr Brady and was told to bring my children with me. My son Paul was almost 13 at the time and my daughter Katie was a year younger.
I had my bloods taken and the children were screened through an echo bubble test. CT scans revealed arteriovenous malformations on both their lungs. Katie’s were microscopic and would just require future monitoring. However, Paul’s condition was far more serious.
They told us that Paul was quite ill and he got very upset at the time. I remember his friends would always put him in goal as he didn’t have the energy to run the length of the pitch, but we now realised this was because his poor lungs weren’t functioning properly. Things were now starting to make sense with this diagnosis.
Paul needed surgery to embolise the bleeding vessels and a pioneering technique allowed doctors to go in through his groin, which was done under local anaesthetic.
Within three months, the results of my genetic blood test confirmed a HHT diagnosis. Earlier tests in Cork had revealed the beginnings of GI bleeding, although my lungs and brain were unaffected.
Sadly, there were some extremely tragic times ahead. In 2004, I lost her father at the age of 68 to what I call “this damned disease”.
In the summer of 2012, HHT claimed the life of my son Paul, who was just 22yrs at the time. June 8th is forever etched on my mind.
Paul had just finished his degree in Environmental Science at DCU and had handed in his thesis. He had gone to Paris with his girlfriend and their plan was to travel around Europe and work in bars – he couldn’t wait to get going.
After five days, I got a phone call in the middle of the night to say that Paul had died in his bed in Paris. The evening before, he had sent us a lovely email telling us how fabulous the past four days had been – he was just so happy.
After Paul’s death, myself and my husband David set up HHT Ireland to provide information about the condition and offer support to other families. I have dedicated myself full-time to this cause and I’m doing it in Paul’s memory.
I know if it had been Katie who had been taken, Paul would have wanted me to do something like this. We found that we had nobody to talk to after Paul died, which was another reason for setting up HHT Ireland.”
Thankfully, Katie, now 30, is continuing to do well and is screened every five years.
She’s living a wonderful life in Madrid now.
As for myself, my health as good, although I continue to get nose bleeds and can suffer from fatigue at times.
Those patients living with HHT require regular monitoring and blood transfusions. CT scans are essential in determining if major organs, such as the lungs or brain, are affected.
X-rays will not tell you anything.
With 1:5000 worldwide living with HHT, it’s estimated that 1,000 people in Ireland have the condition. However, 90pc go undiagnosed.
People are walking around with these ticking time bombs because they don’t know about it.
If you have any concerns, you must go for genetic blood testing to rule it in or out. If ruled in, you then need to have the major organs screened by HHT experts to know if they are affected.