Lou Needs a Unique Identifying Number, Too

Lou Needs a Unique Identifying Number, Too
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We already have social security numbers, dates of birth, addresses, license plates, heights, weights, and ICD-10 codes. Isn’t that enough? No. It just plain isn’t enough for people with rare diseases. We need one more number. A unique identifying number that can cut through all the mustard, all the red tape, all the layers of bureaucracy and put together the pieces of the puzzle.

My son, Lou, who has Angelman syndrome, has participated in every clinical trial we could get our hands on. In our minds, those studies were his ticket out. Out of the frustration and irritation and out of the isolation and aggravation of Angelman syndrome. He is 21 years old now, and he has been in clinical trials for 20 years. Each time Lou is in a clinical trial, we fill out similar forms about his abilities and daily routines, like when he first rolled or sat or walked.

Yes, Lou walks. He took his first steps when he was 4 years old. Wait, was he 3, almost 4? Or 4, almost 5? I can’t remember now. I do remember going to church that week and standing up to tell the whole congregation the good news. They had watched us struggling with baby Lou when he was an infant on my lap, unable to nurse easily, difficult to comfort. And they had struggled with us as we sought a diagnosis to explain why he wasn’t sitting and standing and taking steps when he should have. And they had cried with us when we put a name to the problem, Angelman syndrome, and learned that Lou might never walk, or feed himself, or sleep through the night.

And then, when he took steps, walking all on his own, across the sanctuary, all wobbly, from my lap to a familiar face across the aisle, the whole congregation just squealed and clapped with glee. I’ll never forget that moment of triumph for Lou, defying all expectations, unsteady but moving forward into the loving arms of the congregation, as I burst into tears.

But, I can’t remember exactly when that happened. Was he 3? Or was he 4? I think it was January, but I don’t know for sure. The next study Lou joins will ask me this question, but I might get it wrong! This fact, the date of his first steps, is important. Somewhere, in a medical record of a clinical trial, the exact moment of Lou’s first step is recorded and that is a crucial fact. If each study could link to all the other studies through a magic number, unique to Lou, these facts would form a line describing his development. A little piece of data that can unlock a mystery.

If a treatment works, if a new compound succeeds, maybe other kids with Angelman syndrome will take their first wobbly steps at a younger age than Louie did. Or at least a younger average age than the average of all the Lous who have gone before. And that will be success! That will prove that the drug, the compound, the gene therapy, is working.

That moment of Lou’s first steps is a dot on a graph somewhere in a medical record on a piece of paper in a file in a warehouse, and maybe also in an electronic file in the ethernet. If that piece of information could be filed under a unique identifying number assigned only to Lou, it would connect all the information collected about him over all the years he’s been in all the clinical trials in all the gin joints in all the towns in all the world.

Lou needs just one more number. A unique identifying number. A global unique identifier. GUIDs are good! With that secret, all-powerful number, Lou’s first steps in California so long ago would be important steps not just for one little guy in a church full of blubbering friends, but for all of Angel-mankind.

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Note: Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Angelman Syndrome News, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Angelman syndrome.

Terry Jo Bichell is a neuroscientist researching biomarkers and outcome measures for severe rare genetic neurodevelopmental disorders and is the mother of an adult son with Angelman syndrome.
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Terry Jo Bichell is a neuroscientist researching biomarkers and outcome measures for severe rare genetic neurodevelopmental disorders and is the mother of an adult son with Angelman syndrome.

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