On the 23rd of September, at Dudhope Castle in Dundee, NHS Tayside Charitable Foundation hosted the launch of a new arm to the charity. This is HHT Scotland, the country’s first dedicated to raising awareness of, and supporting those with, a little-known genetic blood condition called HHT (Hereditary Hemorrhagic Telangiectasia). HHT was first discovered in the late 19th Century, known initially as Osler-Weber-Rendu syndrome, though over 125 years later research is only now beginning to gather steam. There is currently no cure. Each time a child is born into an HHT family there’s a 50/50 chance of passing it on, and symptoms can vary hugely. Abnormal blood vessel formation can lead to telangiectasias and arteriovenous malformations that commonly cause nosebleeds and gastrointestinal bleeding. This bleeding occurs on the lungs, the brain or the liver, and may develop in childhood, or later life. With 1 in 5,000 people having the condition and only half of those diagnosed, many doctors still not knowing what HHT is and so many patients unaware of the dangers for themselves or for future generations, the creation of HHT Scotland matters. It also matters to me personally as I, my daughter, brother and my mum have HHT, too. So did my nephew Joshua, who died on the day he was born, in 2017.
Back in 2013, when I was first diagnosed with HHT shortly before my eldest daughter was born, I heard that once upon a time the great Scottish writer Robert Louis Stevenson had HHT. Somehow this was comforting. Few of us will ever achieve as much as the author of Kidnapped, The Strange Case of Dr. Jekyll and Mr. Hyde and Treasure Island and I’m not comparing myself to him. But I was an admirer of Stevenson’s work and did feel somehow part of a long lineage of folks with chronic illness who managed to live good creative lives in spite of – or even because of – their circumstances. (I’m laughing here, because I’ve just sneezed as I type, which has set off a nosebleed that’s covered the keyboard on my laptop with red. It doesn’t take much. I get nosebleeds multiple times each day. Mornings, nights, in the shower, on the move, in lecture theatres and on stages. And my version of the condition is relatively light.)
These days I think of Stevenson’s case differently. In fact, we don’t know for sure he had the condition at all. Rather, he suffered symptoms that suggest he may have had it. (Genetic scientists Alan E. Guttmacher and J.R. Callahan wrote about this in 2000 in an article in the American Journal of Medical Genetics.[1]) ‘May’ is the key word here, and in this way he’s strangely typical. Then and now, so many people go undiagnosed and on average it takes several decades before people even find out they have it. Meanwhile, they wonder, and do what they can. In Stevenson’s case, he gave his mystery condition a bitter nickname, ‘Bluidy Jack’, referring to the pulmonary haemorrhages he suffered, possibly inherited from his mother, who had similar symptoms. Stevenson once wrote, ‘When I spit blood I write verses,’ which is a phrase I’m increasingly fond of, as it suggests he was spurred to make something of his life, especially when he felt medically vulnerable. Of course, in the 19th Century no one could tell Stevenson exactly what he was suffering from. It was all rather vague, as things often are for patients these days too. When I look back at the long history of my own family, there are many people closely related to me who may have had it. They couldn’t know for sure, and we can’t be sure after their deaths, though we can work towards improving diagnosis and testing in the future, also patient support.
This was the whole focus of the launch event for HHT Scotland. I was glad to be one of many voices sharing their experiences, also their hopes for the future of the charity. HHT Ireland seems to be a good model to be inspired by. Cure HHT in the US leads medical research. Up to now there has been no equivalent in Scotland.
We learned the nature of my nephew Joshua’s version of HHT when his mum was 31 weeks pregnant, realising with horror that his chances of being able to survive birth were slim. But we all hoped anyway. At the time, we were in shock. Though we were used to myself and my mum having regular nosebleeds, none of us in the family realised HHT could be fatal.
After Joshua died, we were all looking for ways to cope with his loss and I personally felt guilty for having lived with nosebleeds for years but never got myself tested. In talking to Joshua’s mum in the months and years that followed, I learned her biggest fear – like the parents of so many children who live short lives – was that he would be quickly forgotten, as if he’d never lived at all. I have made a living from writing the stories of real lives, not least several biographies. I began to wonder if I could do anything useful rather than simply anguish. What might the story of Joshua’s life look like, read like? Where might it begin and end, and how could we work together to document his life in a way that avoided completely tragic framing? Whose life get to be remembered and why, I wondered?
I began writing and sharing excerpts with Joshua’s parents, who encouraged me to keep going. ‘I like it when you write about Joshua’, my brother said. So I wrote some essays, then some more, then eventually this became a nonfiction book called Joshua in the Sky: A Blood Memoir, an unorthodox biography of a short life and its long legacy in our family and beyond, also a book that tried to look unflinchingly at my own responsibility. Written with the full co-operation of Joshua’s parents, who remain anonymous throughout, it was the first book about patient experience of HHT published in the UK or anywhere across Europe. (I keep hoping I’m wrong on this – maybe someone will tell me of one I’ve not heard of, and I’ll be glad.) On the bright cover of my book, red dots amongst a rainbow signify the nosebleeds many with HHT experience, though that experience can be hugely varied. My brother has not had a symptom all his life, though his son had an extreme version of the condition that meant he was safer breathing in the womb than he was in the outside world.
Since the book’s publication in 2024, I’ve done lots of events related to it, as authors do. Luckily, a chapter won the Anne Brown Essay Prize, and the book was nominated for the Saltire Nonfiction Book of the Year Award. All very nice, especially as profits from the book went to HHT charities. That said, the launch of HHT Scotland was the first time I’ve ever shared our family’s story with other people with HHT. In fact, it was the first time I’d ever met anyone outside my own family with HHT. Ever. In any context. When one lady put her hand up and told her own story, her nose began bleeding as if on cue, and the whole room smiled. Our family’s was just one of a series of patient stories featured at the launch and I learned about HHT variations that are new to me. One after another, folk shared familiar stories which felt emotional, difficult, but necessary. It was a rare opportunity for sharing, but also for some hope.
The creation of HHT Scotland has been a long time coming. Richard Green, a Consultant Otolaryngologist and Honorary Senior Lecturer at NHS Tayside and the University of Dundee is the leading clinician involved and has been working towards this for years. He spoke at the event, as did Shelley McCarthy, the Charity Chief Executive who is a whirlwind of positivity – such people are essential for any cause. For the first time in over twenty years of public speaking, I had the pleasure of speaking alongside my own mum, too, at the launch. We both discussed our family’s experience before I read from Joshua in the Sky, concentrating on the moments leading up to his birth. It’s a personal book and it’s not always easy for people to listen to. But as I looked around the room then chatted to people afterwards, many of whom had moved me with their own stories, I was reminded of the value of personal storytelling when seeking to raise awareness. I want to listen to your story, I told them, and hope you might listen to mine.
For twenty years I have been telling the stories of real people, so I’ve had some time to consider what the value of that approach is. In the sciences the material value of new research may be obvious – in an HHT context, the value, for example, of new research in search of a cure does not need to make a case for why this might be useful. In my experience when it comes to the Arts and Humanities, for good reason, we often do need to make that case. At times I have doubted it. What is the point in telling stories anyway? What does it do? What does it change? What I was reminded of, in reading from Joshua in the Sky at the HHT Scotland launch and standing alongside my mum as she spoke of her own experience, is that emotional connection is key to moving any charity forward. When people are moved by the stories of real people they understand, through narrative, the emotional reasons why statistics, medical research and action matter, and they are more likely to act. They’re also better placed to reflect on their own experience and process that experience in a healthy manner. In this way, the arts and humanities can support other fields and work with them to tell stories that resonate far beyond one individual or one individual’s family. The launch of HHT Scotland was hopefully just the start of many more stories yet to be told.
Dr. Rodge Glass is Reader in Creative Writing at the University of Strathclyde
[1] This research is detailed in an article on Stevenson and HHT in Hektoen International, A Journal of Medical Humanities. https://hekint.org/2020/04/29/robert-louis-stevenson-and-hereditary-hemorrhagic-telangiectasia/
