Shout Huntington’s Aloud

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

Note: This blog piece has been submitted Margaret Black. Margaret is an HD family member and is sharing her experience finding out about having HD in her family. Thank you to Margaret for sharing this with us.

A Reason, A Season Or A Lifetime

I can’t remember who told me, but someone once said that things, or people, come into your life for a reason, a season, or a lifetime. I wasn’t exactly sure what they meant at the time, but it all started to make sense many years later.

My earliest memory was around age three, at my Granny’s house, Teviot, where I spent most of my childhood. As a child, I completely accepted that Granny Maisie was the dominant character, running the house, maintaining a large garden, and being the “go-to” figure for all family decisions. She was the much-loved matriarch of the family. My Grandpa was clearly in poor health, I only ever remember him sitting in his armchair; twisted and fidgety. He seemed uncomfortable, with a dark kind of sadness across his face, which lifted when he saw me. He would make an effort to smile. In the afternoons, Granny would read to me from my comic, the Twinkle. My favourite story was about Nurse Nancy and Dr Jingle. Granny suggested that I could be Nurse Nancy to Grandpa, and therefore I started helping him with little everyday tasks. For the next three years, I was proud to be the person helping with my Grandpa’s food tray, bib and feeding cup, in my role as Nurse Nancy. In March 1973, my Grandpa passed away, five days before my seventh birthday, leaving my Granny and his four children devastated. None of the family were aware that Granny was also harbouring a family secret, which would emerge many years later and effectively ruin the lives of every one of Grandpa’s children and grandchildren.

In October 1996, at age thirty, I finally learned the family secret. I had been born into a “Huntington’s family”. At the time, my mother described it as ‘Huntington’s chorea’, a name which changed over the years to Huntington’s disease (HD). I personally think the chorea part of the name is more appropriate, representing the jerking movements of the patient. Disease suggests to me something that you catch; involving tablets, medication and a possible cure. I soon realised that there is no cure for Huntington’s disease; treatment is limited, varied, inconsistent and often controversial- making diagnosis a bitter pill to swallow.

There is no rhyme or reason as to why Huntington’s strikes, and continues to strike generation after generation. Each child with an affected parent lives with a 50:50 risk of developing the disease.

To me it felt like a death sentence, which hung over me and clouded my judgement for the next seventeen years.

A chance meeting, an inquisitive mind, a desire to learn more and to help others in my family brought me into contact with a Huntington’s specialist. Over a period of years, my “season”, a special rapport was built up, and conversations took place that only she and I totally understood.

The testing process, uncertainty, positive results, negative results, impact on future generations, guilt, frustration, tears…

A life sentence.