My son has a rare bone disease. I watch him suffer with bone pain – it really does get worse when it rains. He uses a wheelchair and walker. I would do absolutely anything for him to make it better – thing is though – the system is so broken there is not much that I can actually do for him.
He is one of the more than 30 million people in the USA who have a rare disease (a disease that affects fewer than 200,000 people). 75 percent of these people are kids. For most of these diseases, these kids, there will be no treatment or cure for over 150 years. The system for rare disease is so broken. Can you even call something this ineffective a system?
There are almost 7,000 rare diseases. Most have no treatment. No medicine to make it better.
Basic research uncovers the mechanism of disease (what gene is involved and why). Basic research is great – the problem is making this information work for actual kids. The place between basic research and the local pharmacy has a special name – experts call it the valley of death.
Drug development is expensive and risky which means that for rare disease especially, the basic research gets stuck. Rare diseases, just like common diseases, need fancy sounding things like target validation, lead optimization, process chemistry, preclinical development, clinical trials, FDA application, and FDA approval.
More fancy words – we need to re-purpose existing drugs. We need incentives like drug exclusivity and patent extensions. We need natural histories and cohorts standing ready for rare disease drug development.
Everyone needs to work together – patient groups, researchers, pharmaceutical companies and regulators. Everyone does not work together, even though this means that kids suffer and die.
What can you do to help kids with rare diseases? You can wear jeans and jean ribbons. Seriously, it can be that simple. Why jeans and jean ribbons? Jeans seem simple to make, but it’s a complex process just like making you – one DNA building block at a time (A + T + C + G).
When my son is doing okay, I volunteer with for the Global Genes Project. It’s a unique opportunity to raise awareness for these kids – and support for the many different rare disease foundations. We could use your help – join our Facebook group, wear jeans and jean ribbons for rare, blog for us – anything. These kids have been invisible for generations – let’s change that and speak up for them.
Does the world really need more acne medicine?
– Let’s make science work for our kids.