Author: fundraising

HOPE. This is what we have all felt with the news from the Ionic trial. Living with HD as a family member is always having that black cloud just over the horizon, looming angrily to remind us all that time’s winged chariot is zooming along. But now we have light…not a lot, but it’s there. How good is that?

It reminds me of the famous expedition by Apsley Cherry-Garrard (what lovely name, Cherry to his mates) who was on the Antarctic expedition with Scott at the beginning of the 20th century. Off he went with 3 colleagues in the depths of the Antarctic winter – which means total dark 24/7, plus -50 degrees and a howling wind, to go and find out how the Emperor penguins reproduced. Nobody then knew.

They travelled for several days and then disaster struck. Their tent blew away. The men faced the fact that without it…they were doomed. It was too cold to survive. They couldn’t cook without its shelter or sleep or get out of the devastating wind and cold. They were miles from help and no way of summoning any. When HOPE… they found it snagged on an overhang.

I feel HD is a bit like that journey. Because it’s dark and cold and you know disaster looms. And now we have found the metaphorical tent in front of us. We can travel forward.

Cherry’s team didn’t know if they would get the precious egg. They didn’t know if they would survive to get back to Scott’s hut. But they knew they had a chance.

We all now have that precious chance to conquer this disease with its cruel progression. We can get back to the hut. And so we enjoyed Christmas. We all played games, and drank and ate enough for several expeditions. We went to the alternative Cinderella at the Citizens Theatre and laughed. We walked along the beach and took photos, just discernible in hoods and jackets. The teenage two argued and emptied the dishwasher ( it’s YOUR turn, it’s not, I did it last time…) and the dogs had a go at each other, and 3 of the adults did the Turkey Trot with Euan coming in at a fast time, and we ate Boxing Day Buffet and drank some more.

It was fun. And if January is now a bit dank and dreary and dry…spring is on its way. And at least we are not shuffling round in a circle with an egg on our feet- the fathers that is. Mums are off in the oceans swimming and fishing. When Cherry came back to London he took the hard won egg to the Natural History Museum where he had to wait in the corridor for some time, and was treated with less than courtesy. Poor guy!

We have our egg, and it needs nourished, and money, clever clever people, and HD+ve people who are brave enough to go on the trial. We will get there I am sure of it…and it’s so good to have that hope.

 

Barbie Short, January 2018

Stronger Together was the theme for this year’s European Huntington’s Disease Association conference held in Sofia, which I was fortunate to attend in September.

Over the course of the three days I met the most dedicated, bravest, happiest, people from 28 countries across Europe and the world. People had travelled thousands of miles eager to hear about the latest research, the approaches that are being used elsewhere, to meet and make new friends and to stand together to fight this debilitating condition that knows no social, race, or age barrier.

Snapshot of Bulgaria

Bulgaria – as the host country – shared their progress since 2014 despite a number of local challenges. Typically, a lack of public and professional awareness has delayed diagnosis, or worse still, resulted in wrong diagnosis. Also, families living in remote hot spots, in isolation, with fear of stigma are faced with a distinct lack of good practice. There is progress, but obstacles such as no psychiatric input, no palliative care, no specialist care and a chronic lack of health care outside the capital city mean there is still a long way to go.

HD research and the future

For me, the most inspiring session was lead by Sarah Tabrizi, Professor of Clinical Neurology, from London, who ‘stole the show’.  Her presence, enthusiasm and passion were screaming for all to hear. She has been working in HD research for 21 years and her confidence in finding a treatment for HD was the hope we all needed to hear. She was adamant that HD will be treated in the same way as diseases like cancer and HIV are treated now and that is will not be the terminal disease we now see. She enthused that current treatment undergoing clinical trials give very real hope for the future generations living with HD.

Gene Lowering

The real hope is in what some call ‘gene silencing’ but Sarah referred to as ‘gene lowering’ therapies. The key being early treatment, that is to treat before it starts. The delivery method of choice currently is to inject directly into the spinal fluid, ventricles or brain tissue. This treatment is not reversible so is higher risk. This approach has now reached the second phase of human trials and shows to be very hopeful at stopping the disease before the symptoms cause disability for the person.

IONIC Trial

This exciting development of a single strand of chemically altered DNA which reduces the HTT protein level is the first clinical therapy supporting the attack of mutant protein. The drug is injected into spinal fluid but the target is the brain. Forty six patients with early HD from Canada and Europe are currently taking part in human trials.  There is an ‘open label’ extension for participants which means it is progressing well in terms of safety.

Gene editing – is also raising real hope.  A scientist discovered by accident that bacteria could destroy DNA. For a person with increased repeats related to HD this means finding the mistake, deleting the mistake and correcting the number or repeats. This is still in the very early stages.

On reflection…

The conference was overwhelmingly a positive experience for me. The unique opportunity to be emerged for three days amongst Europe’s eminent ‘leading lights’ on HD and HD families from across the globe was both exhilarating and exhausting!  The combined passion, enthusiasm and dedication of the speakers and the delegates was evidence if it was ever needed that ‘Stronger Together’ is the only way forward.

Without doubt I would encourage others to attend this annual conference – intellectually and socially there is so much to be gained from meeting like-minded people.  I came home genuinely optimistic, energised and more hopeful about the future of HD. 

Annette Brown
Senior HD Specialist
SHA Lothian