In recognition of World Rare Disease Day, you can read our personal stories of life with HHT:
Aodhan Quinlan from Cork:
Aodhan’s Story: On Aodhán’s 56th birthday in 2006, he suffered a stroke. 5 years later in 2011, he was found to have a Pulmonary (lung) AVM, as a manifestation of his HHT. This was successfully embolised at the National HHT Centre, in The Mercy University Hospital in Cork, under the care of Drs. Adrian Brady & Terry O’Connor. Aodhán’s recovery has been such that he cycled 5500 km (3800 miles) across America, from Los Angeles to Washington DC, in 2012, and he has subsequently guided others on cycling trips in Ireland, Poland, Vietnam, Laos and Cuba. Aodhán remains very fit and well, other than suffering from heavy nosebleeds, especially in response to temperature changes. HHT remains part of his life, but successful treatment of his pulmonary AVM has maintained his healthy, active lifestyle and protected him from further strokes
Mary Fox from Dublin:
Mary’s Story: “I was finally diagnosed with HHT in 2016 after 30 years of suffering with severe nosebleeds and its side effects. My nosebleeds started around 1988. I had my nose cauterized for the first time in 1990 and since then many times. In 2015 it was cauterized five times in one year. Nobody seemed to know what was wrong and it was very scary. Every time I went out socially I would go laden with tissues and a change of clothes and I could never wear white. There were times when it was so bad that A&E was the only option.
In 2015 I had an accident and during my recovery I asked my surgeon did he know anybody who could help me. Finally in 2016 I was put in touch with an ENT specialist who diagnosed HHT. My relief was immense to get a proper diagnosis. I was referred to Mercy Hospital in Cork where genetic tests and others were carried out. I was very low in iron and my haemoglobin was on the floor. My three children were tested and two of them have the condition and one of my grandchildren also has the gene. My daughter has an AVM on her liver and my son has one on his lung. Both will be monitored for the rest of their lives.
The good news is I have had my nose lasered twice and I take iron supplements which has brought my iron and haemoglobin levels up to almost normal levels. Also the nosebleeds have greatly reduced ,so all in all a very positive outcome for me.
I am not out of the woods but the improvement is great and knowing about my condition is a positive thing in every respect.
I am involved with HHT Ireland – a patient support group and having that support is of great benefit to me.”
Christian from Norway:
Christian’s Story: Christian was just 3 years old when he suffered a sudden brain haemorrhage due to HHT. Although Christian was not formally diagnosed, his mother was aware of HHT in the family and informed the ambulance crew and the doctors immediately. Due to the quick reaction time and knowledge of HHT by both Christian’s family and the team of doctors & surgeons, his life was saved. Today he continues to recover and is doing well