The RareChildNeuro 75% Fact

By Carol A. Dutch – Senior Director, Patient Engagement, Lumos Pharma

Thanks to the human genome project, thousands of diseases and disorders have been identified and most of these can be characterized as rare and inherited. Facts like “There are over 7000 rare diseases identified” and “There are more than 350 million people in the world living with a rare disease” are points of information that are widely used to help bring awareness and a voice to all rare diseases worldwide.

And this week, on Feb 28th, World Rare Disease Day, we can add a specific awareness fact to this important list- The RareChildNeuro 75% Fact. Over 3000 genetic diseases affect the neurologic system. Of these, 75% of them affect children and babies. Seventy-five percent! That equates to over 2,250 neurological disorders affecting the neonatal and pediatric population.

It is because of genetic testing and global open-source sharing genetic databases, like OMIN-Online Mendelian Inheritance in Man® and the Monarch Initiative, facts like these can be discovered. The identity of these rare pediatric neurological diseases has given way to find treatments and better management. In some cases, it has been life-saving and life-altering; in some cases, it has been informational but also heart-breaking.

I don’t know how many of those 2250 rare child neuro diseases – “the 75%s”- have a patient organization, but I do know that whether one of those groups has 40 or even 4000 affected individuals in their group, they now know that they are not alone and there is strength in numbers.

Last week, on Feb 21st, 2018, a group of 11 Texas-based rare child neuro patient organizations, “the 75%s”, got together to start looking at how their similar needs could be harnessed to help spur Texas-centric legislation and research to help these children and babies. Thank you to those 11 groups who answered my email to meet at our Austin headquarters and sit around the table and talk. It is just the beginning of what we can do together and how our numbers can add up to a stronger voice to get traction.

On World Rare Disease Day, I celebrate their causes, endeavors, and achievements. Let’s make sure that size of the numerous faces behind “The RareChildNeuro 75% Fact” starts to build the necessary awareness that is needed to get more research, treatments, services, access and our attention to this vulnerable group.

*The RareChild Neuro 75% fact has been uncovered through the work of the Child Neurology Foundation and Global Genes workgroup. For more information, go to http://www.childneurologyfoundation.org/programs/rarechildneuro/