February 28 was the  Rare Disease Day – the day of international recognition for the myriad of little known but devastating diseases that can affect us as humans. The message is awareness. Awareness for the existence and struggles of those afflicted.

Written by Chris De Sousa

Chris De Sousa Photo: Private
Chris De Sousa
Photo: Private

Rare diseases are rarer when less people know about them. Raising awareness is an essential first step towards finding a solution; without it, none of the ‘important’ stuff – research or drug development – could be achieved. It is only after awareness has spread far enough that we can organise a community and have a go at curing the incurable.

As far as the prevalence goes, Huntington’s Disease (HD) is definitely a rare disease. But as far as awareness goes, HD is far from rare: the community which thrives around it is amazingly large and vibrant. We should be massively thankful for this because, beyond any large amount of funding or new therapeutic avenue, it is this community that is our most promising asset.

One of the biggest displays of our community and how it can come together as a powerful asset is Enroll-HD.

Why is Enroll-HD so powerful?

Enroll-HD is a project which seeks to collect health information from you and me – people affected by HD – anonymously. Its mission is to understand the progress of HD.

I have enrolled and I do not know if I am affected. Over the next 30 years of my life, the hard-working people at Enroll will diligently test and observe me. If I go on to develop the disease, they will be able to see what kind of changes have happened to my brain and body over that time. If I don’t, they can still use the measurements they have collected as a control, a comparison against the people who have become affected.

Today is a day about raising awareness, to increase the numbers in our rare communities, to organise ourselves towards finding a solution.

All of the changes that they observe in me, and the thousands of others who have already enrolled, are important news because they are happening in real time. It is one thing to test a dissected idea in a lab; it is another to watch the whole disease in action over a lifetime. None of the treatments that make their way out of the lab will mean anything unless we can integrate them into our understanding of the real thing. It is Enroll-HD which is helping us do that.

How exactly?

Firstly, we need to be able to know if the treatments we deliver are effective. We won’t know this unless we know what disease progress looks like without treatment. HD progresses over a lifetime. It takes a committed effort to observe people that long, and make it mean something. Enroll will observe thousands of people in exactly the same way for as long as it takes – until we understand all we need to know.

Secondly, we need to be able to figure out when to deliver treatments: do they work most effectively before a patient manifests; will they work after a certain point; are different treatments effective at different stages? We can’t start answering these questions until we can define, in fine detail, how the disease evolves. Enroll tests and tracks us in many different ways, and if anyone thinks of another detail we could measuring, it will soon be measured.

Thirdly, we need to be able to find candidates to test new treatments. Not every person with the disease, or the potential to have it, is appropriate for every study – our lives and the manifestation of the disease vary by many degrees. As Enroll participants, we are collected under one roof, ready and easily identifiable; saving researchers a lot of valuable time searching for us.

Enroll is a big solution, to a big problem

There is a lot we need to know about the progress of HD before we can understand how to effectively treat it; things that we can’t dissect in a lab, that need to be observed as they happen in our bodies over our lifetimes.

Unfortunately, our lives are long and complex and the answers to these questions are complicated. To have the best chance of figuring them out we need to observe a lot of people and have the patience to do it consistently over a long time.

This requires coordination; something that could never be achieved if awareness were never raised.  Enroll is a unique and important project because it mobilizes a community of people that are aware and pushes them to become part of a collaborative solution.

Today is a day about raising awareness, to increase the numbers in our rare communities, to organize ourselves towards finding a solution to our problems – whatever problems we may be afflicted by.

Enroll relies on our HD community – it only has power in large numbers. By enrolling, you support the community that makes our disease a little less rare. Enroll for the future of HD.


To learn more about Rare Disease Day, go to www.rarediseaseday.org