Living With HHT
Pic: Tony McCullagh, Fingal Independent.
Dara Woods talks to Tony McCullagh from Fingal Independent and tells how HHT affected her life…….
Swords Castle will light up every night until the end of this month as Fingal’s gesture of solidarity with people around the world living with rare diseases.
Rare Disease Day 2022, which takes place on February 28, is an international awareness-raising campaign, first launched in 2008. There are 300 million people worldwide battling a rare disease, among them Swords woman Dara Woods.
Dara (59) suffers from a condition known as Hereditary Haemorrhagic Telangiectasia (HHT), a multi-system vascular disorder seen in around 1.4 million people globally.
Although the condition can affect organs such as the brain, lungs, liver, spleen and GI tract, symptoms can vary from mild to severe in each individual. In some cases, regular nose bleeds can be a red flag for HHT.
HHT is notoriously difficult to diagnose, resulting in up to 90pc of cases going undetected, according to Dara. It’s an autosomal dominant genetic disorder, meaning that each child born to an affected parent has a 50pc chance of inheriting the gene.
Sadly, this turned out to be the case for Dara’s two children.
Dara, who was almost 40 when eventually diagnosed, explained how HHT causes blood vessels to rupture.
“If members of your family have a history of unexplained and recurrent nosebleeds, you need to have a conversation about getting checked for HHT,” she said. “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, 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.”
Dara said while she regularly suffered from nosebleeds as a child, they became more serious from the age of 25 until her mid-40s.
“I even had to be taken out of the exam hall when I was doing my Leaving Cert Irish as I bled all over the place,” she said. “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 Dara and her family. 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.”
Dara contacted the HHT National Centre that had been set up in the Cork hospital by Dr Brady and was told to bring her children with her. Her son Paul was almost 13 at the time and daughter Katie was a year younger.
Dara had her bloods taken and her 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,” Dara said. “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 Dara’s genetic blood test confirmed a HHT diagnosis. Earlier tests in Cork had revealed the beginnings of GI bleeding, although her lungs and brain were unaffected.
There were some extremely tragic times ahead. In 2004, Dara lost her father at the age of 68 to what she calls “this damned disease”.
In the summer of 2012, HHT claimed the life of her son, who was just 22 at the time. This June will mark the 10th anniversary of his death.
“He had just finished his degree in environmental science at DCU and had handed in his thesis,” Dara recalled. “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 night before, he had sent us a lovely email telling us how fabulous the past four days had been – he was just so happy.”
After their son’s death, Dara and husband David set up HHT Ireland to provide information about the condition and offer support to other families. She has dedicated herself full-time to this cause and says she is 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,” she stated. “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 checked every five years.
“She’s living a wonderful life in Barcelona,” Dara revealed.
As for Dara herself, she describes her health as good, although she continues to get nose bleeds and can suffer from fatigue at times.
She said those living with HHT require regular monitoring and blood transfusions. She stressed that CT scans are essential in determining if major organs, such as the lungs or brain, are affected.
“X-rays will not tell you anything,” she warned.
With one in 5,000 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,” said Dara.
“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 check if the major organs are affected,” she added.
HHT Ireland is part of the Rare Diseases Ireland umbrella group and is also a member of HHT Europe.
There are approximately 6,000 rare diseases in the world. The motto for Rare Disease Day 2020 is ‘rare is many, rare is strong, rare is proud’.
Following a request from HHT Ireland, Fingal County Council agreed to light up Swords Castle in the Rare Disease Day colours for one week.
The landmark building at the heart of Swords will be lit every night up until the official day of the event on February 28.
Dara is asking people to take selfies of themselves in front of the castle and post the photos on social media, using the hashtag #lightup4rd.