Have I passed this deadly disease to my children?
After testing positive for genetic condition Huntington’s, Charlotte Raven was faced with difficult choices about her family’s future – but remains optimistic
Ihave Huntington’s disease (HD), a terminal, neurodegenerative genetic illness which typically manifests in mid-life. Now 48, I have been symptomatic for seven years and may have as few as another 10 left. My life is measured out in doctors’ appointments, visits from my occupational therapists, menu plans, care assessments and endless to-do lists with everyday tasks broken down into their component parts. My carers come in for a few hours every weekday but it still doesn’t feel like enough.
Life with HD feels like running to stand still. I can’t work or think straight. I’ve just spilt coffee over my favourite top and nearly flooded the bathroom by leaving the tap running. I need to eat a high-calorie diet but can’t cook. Being middle-class, with neighbours who never drop in for a cuppa, has left me feeling so isolated that I’ve started to fantasise about going to live in a commune. When my carers leave, London feels like a difficult place to be.
Meanwhile, my friends are all getting promotions and enjoying the fruits of their labours. They do try to support me, but visits have to be scheduled weeks in advance, juggled between work and young children.
I have two young children myself, who are at risk of developing the disease, so I’ve been watching the controversy about “designer babies” with steadily mounting indignation. Some commentators have suggested that prospective parents with Huntington’s should be denied the opportunity to ‘fix’ their embryos’ faulty DNA – one I would have taken, had it been open to me.
My father didn’t tell me that HD was in the family until after I’d had my first child, when I was 36; my husband is still angry with him about this, but I can only think of how difficult it must have been for him to keep such a terrible secret.
It seems he did consider telling me when I first got married but, after writing out a list of the pros and cons (his customary approach), decided that the cons outweighed the pros.
He was only officially diagnosed a few months before my daughter was born, and even then he was too scared to tell me himself – I had to hear it from a family friend. But at least all of this helped explain why he had always been so reluctant to talk about his childhood.
We spent years agonising about impossible decisions. Should I take the test to see if I had the HD gene (I did, and was surprised to learn that very few people do)? Should we have another child (and would I be able to look after them if we did)? And what, in any case, is the optimum age at which to tell a child that they have a 50 per cent chance of inheriting a deadly disease, for which they cannot be tested until they reach 18? In the event, hope won over apprehension and our son was born, five years after his sister.
In this difficult place, I have been
‘Now 48, I have been symptomatic for seven years and may have as few as 10 left’
cheered by scientific developments. The last time I saw my neurologist, he was excited to announce that the first stage of a clinical gene-silencing trial had been successful, which is to say no side-effects were observed in the subjects. The next phase will take place next year, and he says I might be eligible. When the drugs were tried on HD mice, they got better. This is great news: the best I was hoping for was to not get worse.
The atmosphere in the clinic was very positive – strikingly so, as they’re usually so focused on not giving false hope to HD families, that they can seem decidedly downbeat. The HD Buzz website, which promises research news written in plain English by scientists, is another case in point. They usually factcheck media stories about wonder drugs that turn out not to be true (I used to consult the site whenever someone sent me a link to some unverifiable flim-flam, then instantly regret doing so), but this time even they seem cautiously optimistic.
One of the most difficult things about this condition is the feeling of impotence. It’s hard to accept that nothing you do makes any difference. I’ve spent many fruitless hours trawling the internet for “neurodegenerative” supplements or lifestyle shifts, but nothing I’ve found has looked like salvation for longer than a week or two. My father used to take fish oil and colloidal silver, but it turns out he was just being superstitious. I’ve read that exercise can “halt disease progression”, but HD Buzz says that this Australian study’s claims have been exaggerated. I smoke half a joint every evening because I’ve heard it might help with some of the symptoms, but HD Buzz(kill) says it might make them worse.
A few days after my appointment, I found an article about gene-editing, which is apparently quite different from gene-silencing but could still be helpful to me. When I try to read it, though, I can’t get much further than “The design and application of tools to change DNA is called geneediting” before my eyes start sliding off the page.
It’s very frustrating. My HD brain finds information hard to process, which makes journalism very difficult. I can’t mentally multi-task or concentrate like I used to. I started writing a blog because I was struggling with deadlines, but now I’m struggling to work out what you’re supposed to do with a blog. I want people to read my work, but I’m writing everything with a muggy mind.
I like research-based journalism, but can only produce life drawing. My critical faculties have been blunted.
My father died in a nursing home last October, aged 83, as a result of HD complications. In his last days he was taken off the drugs that had made it impossible for him to talk and suddenly seemed to want to tell us everything – sometimes, with enormous effort, he would even make a joke. He was himself to his last breath, still raving about his father’s legendary Cornish pasties, and I will always be grateful for that. He told us how much he loved us and, typically, that he was worried about me, which he said was “only natural”.
My children have been dealt a very difficult hand. HD alters your personality, and I was one scary mother before I found the right combination of medication for my depression/aggression. I was keen to talk to them in an age-appropriate way about that, but may not have managed to (“You were really mad, Mum”); there was no big reveal. The illness has shaped their lives but not defined them. My 12-year-old helps me out at home when my carers aren’t there. She is a compassionate soul but hopefully not too burdened by responsibility for me.
I’m worried about them, which is only natural. But now, for the first time, I feel able to reassure them about the future, confident as I am that HD will soon be a treatable condition.
No one can say exactly when, but this is a golden age for genetic research and the outlook has never been more promising.
Still, it is a race against the clock, and while my children are in mortal danger and there may be a way to save them, we simply don’t have the time for endless “moral maze” debates about designer babies.
If I was still a columnist, and well enough, I might have the energy and rhetorical wherewithal to marshal all the necessary arguments against the charge that scientists are “playing God”, but it’s too late for me now. All I can do is watch, and wait, and hope that my children can wriggle free from their genetic destiny.
‘I can’t mentally multi-task or concentrate like I used to’