The rare disease story

Adapted from an address in March 2011 by Foundation President Frank McKeown to a professional services industry group.


Most people reading this have at least some idea of the personal impact of HSP. For many with this disease, they have spent years walking normally, to participate in sports normally… and then to have these abilities taken away more and more over time. This is not something any of us would want for ourselves or for our loved ones or friends.

But there is a story about HSP beyond this. HSP qualifies medically as a rare disease (occurs in less than 1 in 1,000 people) and would still be considered a rare disease even if it were five times as prevalent. Around 1 in 14,500 people has HSP. However, rare diseases are not so rare. There are more than 6,000 registered rare diseases, and what’s more, 80% of rare diseases have a genetic basis. So there are almost 5,000 rare genetic diseases. What makes a genetic cause for disease significant?

In 2000, the human genome – the map of our DNA – was discovered. In the decade since, there have been enormous advances in understanding genetic diseases, and how genetic mutations affect the function of the cells in our bodies. In the next few years at the most, it will be possible to get our unique personal genome mapped at a cost that is not prohibitive. Having this map of our genetic makeup will likely be critical in applying cures to diseases like HSP.

Foundation President Frank McKeown

There is more optimism than ever that the key to a cure for genetic diseases will be found… rather it is considered a question of ‘when’ rather than ‘if’. Because the area is so new, much of the research being done, including the stem cell research that the Foundation funds, is groundbreaking and significantly advancing the quest for cures. Money spent on this quest, whether public or private, is money well spent.

By contrast, with many high profile diseases, the causes remain unknown, despite the attention of established high profile, large professional organisations with significant assets and facilities in Australia and around the world. After decades of research work, some are little closer to identifying a treatment or cure. It appears that they are highly likely to be around in 20 years. I would like to think that we, and many other smaller charities for rare, genetic diseases are not… cures will have been found and the charities will be largely redundant.

Another thing that makes rare genetic diseases as a whole more relevant than we might at first think is this fact: On average, each of us has 8 genetic mutations that have the potential to cause a significant disease or disability. Not just those with HSP… everyone has, with 99% probability, between 5 and 11 genetic mutations with the potential to cause significant disease or disability. A recent, reliable scientific study in the US population came up with an astounding finding, and a good reason why the issue of rare diseases is worth everyone’s attention: 1 in 10 people has a rare disease that is either life-threatening or significantly debilitating.

Now you think to yourself “I know a lot of people and there is no way that 1 in 10 has a significant rare disease”… and you are right, you don’t know them. We have all heard about Multiple Sclerosis, Cerebral Palsy, Cystic Fibrosis, Motor Neurone Disease and Down Syndrome, but how many of us have heard of Moebius syndrome, Guillain Barré syndrome, various different forms of epilepsy and seizures, conditions with bone tumours or serious digestive disorders? How many of us have even heard of HSP’s close cousins – Primary Lateral Sclerosis, or Charcot-Marie-Tooth disease? Go to this rare disease database and click on any letter… see how many names there are that you have never heard of.

Many of the people with rare diseases are not in mainstream society or have a regular place in the workforce or the community. Many are in care, or confined to home, and are restricted in their ability to work. This covers a multitude of diseases including various forms of mental impairment similar to Down syndrome, physical impairment such as HSP, metabolic and physiological diseases that affect the immune system; people who need operations every year to remove bone tumours… and so on. 10% of the population… think about that!

The other name for rare diseases is ‘orphan’ diseases and this is because they are neglected. They are not statistically important individually – just not enough people have them to warrant a lot of attention. They are not politically important individually – can’t justify public expenditure (tax dollars) on the research required. They are not commercially important – pharmaceutical companies can’t make money even if they do come up with a successful therapy because of the lack of breadth of application.

However, when we start to talk about something that affects 10% of the population directly, and an even larger percentage when we consider the impacts on family and the health care system, it puts a different perspective on things.

So how can we legitimately consider all these separate diseases collectively? Most researchers believe that a breakthrough cure on any genetic disease significantly boosts the chances of finding a cure for a whole bunch of related genetic diseases. In the case of HSP, there are a suite of genetically caused neuromuscular diseases that are medically pretty much in the same basket. A breakthrough on any one of these is likely to point the way to finding a breakthrough in many of them. This is the important glue that binds almost 5,000 rare genetic diseases together.

Whether we are thinking about HSP or any other of the almost 5,000 rare genetic diseases, remember:

  • We all carry significant genetic mutations.
  • 1 in 10 of us has a significant rare disease.
  • advances in genetics research are rapid and real, and
  • cures are no longer out of reach.

Just in April this year in Perth, the first meeting in Australia of different groups representing the interests of people with rare diseases was held. This will continue to gather momentum as organisations like ours seek to collaborate with similar organisations to secure a better deal for all. Collectively we can have a political voice where we cannot individually.

It is no coincidence that the government allocation for medical research, which was under threat of being cut in this year’s budget, was left intact. The announcement last month, August 2011, of government support for a National Disability Insurance Scheme is another reflection of building our collective voice and gathering momentum. Let’s all do what we can to ensure this continues.

Make your voices heard!


photo © Cynthia Sciberras 2011


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