Research: Rare Disease Breakthrough and the Hope it Means

It’s not often I can talk about the rare disease my family shares and relate it to some real news in the research front.

Just two kids among many.

My guys hit Disney's Magic Kingdom ready to see it all. Here, Andy and Bobby pose in front of the Castle at Magic Kingdom.

I have included pictures of my guys before, and I will do so again, because you should know that when it comes to rare disorders, I kind of know a bit about it all. It was about 12 years ago we learned that our then baby boy had a rare disease called Rieger Syndrome.

Over the years I connected with other families, all over the world, to learn more about this syndrome and the other related diagnoses my guys all eventually shared.

We struggled in the same way millions of families have to help Bobby make the most of his vision loss (today his functional vision is considered exceptional) and I connected with yet more families.   We faced the fears of new parents worldwide as first one, then another, and then another were all diagnosed with not only Rieger Syndrome, but also autism and epilepsy.

Just when I realized my youngest child would join the genetic lottery that is our family, we added more to his small plate, as a preemie with a brain bleed, Cerebral Palsy, Apraxia, and seizures more severe than those we’d seen previously.  When I looked to the experts, I wasn’t looking at the specialists we trusted sometimes daily with our brood. No, I looked to the experts who became experts by default, not by choice.  I looked to other parents.

We’ve earned our stripes, this motley Moody crew of ours.  So when I see research that unequivocally points to progress in the race to understand the genetic code, I feel like something important has been accomplished.

For those who don’t understand the importance of the link that follows, consider this analogy:

Once upon a time, only the strong survived. Those who were hurt, those who were formed differently, were sent away to die, or killed at birth or upon injury. And then we learned how to treat the sick, mend the broken. And across the centuries, many were saved.

Once upon a time, we thought that many diseases could not be treated. We sent those diagnosed with them away to suffer and die, in silence. And then we learned about vaccinations. And many were saved.

Once upon a time, we thought that every child born with this condition or that one would die within months and we warned the parents, prepared them to say goodbye too soon. And they developed new treatments. With a single shot, many were saved.

Today, more than 30 million Americans (1), young and old, are living with a rare disorder diagnosis. The vast majority are non-fatal. Some day in the future, that number might rise, but with research, and information, and hope, many will be saved.

My family, and the millions across the globe, can be excited about research that finds connections and holds new promise, because it means a better future for those we love and millions more to come.  We aren’t looking to change those we love, to take away this vital part of their identity, for uniqueness is valuable.  We, instead, are hoping to shift some of the burden of pain and difference so that ours and so many other children can be unique because of who they are, not the disease they were born with.


1.) NORD. (2011). What is NORD? Welcome to NORD — National Organization for Rare Disorders. Retrieved May 17, 2011, from

The link will take you to a press release, which does a credible job of explaining the significance of these genetic findings. I would love to know what you think, about my words or theirs. How have you been impacted by a rare disorder?

Researchers looking at a rare disease make breakthrough that could benefit everyone.

MONTREAL, March 1, 2011 – By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer. “As a result of the Human Genome Project, we know the basic identity of essentially all the genes in the human body, but we don’t automatically know what they do in detail,” explained lead researcher Dr. Mark Samuels of the University of Montreal‘s Department of Medicine and the Sainte-Justine University Hospital Research Centre. “It’s like opening your car and seeing the parts, but not knowing what each one does. When a part breaks however, you learn how it fits with the rest of the machine. Working with people who have specific health or development problems linked to specific genes enables us to see how those genes contribute to our bodies’ development and functioning.”


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Filed under Advocacy, Rare Diseases, Research

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