Explorers in the World (of Rett Syndrome)

World-Antique-Map1024768Today being Columbus Day in America (and please, let’s not get political here ; ) ) got me thinking about explorers. So many brave men and women who left their countries to find what was beyond the known. Can you imagine setting sail upon the ocean, believing (but not sure) that the world was round? To have that nagging thought in your mind, the one you’ve been told all your life…that the world was flat and that you would drop off the planet if you went beyond the horizon? Those people that set out to map the world, to find new lands, new pathways from here to there, whether it be mapping the oceans, the river-ways, mountain passes or going into space, we are all in their debt. I feel the same for the doctors and researchers that do the same with Rett.

AndreasRett_WienerVorles_crop

Dr. Andreas Rett

In 1954, when Rett syndrome wasn’t even on the map, Dr. Andreas Rett noticed two girls in his waiting room with similar hand-wringing motions. From that moment, the race to discovery was on. He began seeking out children in Europe with similar life histories and symptoms. Meanwhile, in Sweden, Dr. Bengt Hagberg noticed the same thing in 1960. In 1983, The Annals of Neurology published an article by Dr. Hagberg and his colleagues. Rett syndrome was given it’s name, honoring Dr. Andreas Rett, and a disorder, once unknown which affected families that surely felt they had dropped off the edge of the world, was given a horizon to reach for.

By 1999, my daughter, Katelin, was 6 years old. Our journey, lost in the wilderness of “what the hell is wrong with my child” lasted four years. We had stumbled, fallen, climbed mountains named “I don’t know” and “Nothing” and “Do the Best You Can”, forged rivers of tears called “Frustration”, “Grief”, “Loss” and “Fear” and then!….Ruthie Amir, a research fellow on the Baylor University research team lead by Dr. Huda Zoghbi, discovered the MECP2 gene, which, when mutated, causes Rett Syndrome.

Now, there are explorers of science delving into the unknown, mapping the MECP2, its tributaries of variants, its make up. They’re seeking out the pathways that lead from disorder to treatment to cure. They travel over the mountains of “Needing Grants” and “Time” and “Hope We’re Not Too Late” and through valleys of “That didn’t Work”. Still, they forge ahead, stalwart. And here’s the thing, they aren’t doing this for Glory or for God and Country. They’re doing it for our children, for us.

So, in my heart, on this day named for an explorer, I am thanking you, the doctors and researchers and pharmaceutical companies that see the horizon and don’t believe you’ll fall off when you get there, but instead will have gone full circle and found the promised land for us.

To read more about the history of Rett syndrome and Dr. Andreas Rett visit RettSyndrome.org.

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One Response to Explorers in the World (of Rett Syndrome)

  1. emilyjosmom says:

    Great post, Mel. We echo your thanks to the researcher/explorers!

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