>When people ask me about Abbie and her condition, it’s really hard to explain. When I asked her awesome geneticist, even he said it was hard to explain, so it made me feel a lot better that I’m usually at a loss for words because if a geneticist says it’s hard to explain, then it’s hard! I felt a lot less dumb walking out of his office that day.

If you research Beckwith-Wiedemann Syndrome on Google, this link will likely be at the top of the list:

http://en.wikipedia.org/wiki/Beckwith-Wiedemann_syndrome#Genetics

Thankfully, they define some of the clinical terms, such as macroglossia (large tongue), but they don’t define them all. Example: hemihypertrophy (part of the body being larger than other parts, affecting either one body part, such as a hand, or an entire side of the body).

But when you get into the genetics of it, it’ll make your head spin:

http://en.wikipedia.org/wiki/H19_(gene)

http://en.wikipedia.org/wiki/LIT1

http://en.wikipedia.org/wiki/Cyclin-dependent_kinase_inhibitor_1C

So what is my standard answer when people ask what Beckwith-Wiedemann Syndrome is? More or less, it goes something like this:

In the early part of the pregnancy, some of the chemicals or amino acids or those basic things got messed up. The parts of her genes that are supposed to send a signal to the cells to start growing, then stop, didn’t stop properly. So, the caused a chain reaction and it caused her to have the issues such as one side of her body being larger than the other, her tongue to be large and her intestines to be outside her body.

I’m sure this is wrong on so many levels, but for now, it’s the best way I know how to explain.

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