What's New
L1 Syndrome
L1 syndrome is a genetic condition occurring in males that usually includes hydrocephalus, mental retardation, spasticity of legs and clasped (adducted) thumbs. L1 syndrome is caused by an abnormality (mutation) in the L1CAM gene. Different types of mutations result in different disease characteristics, but disease severity is variable, even in affected members of the same family. This occures in about 1 out of every 60,000 males. Alex has ALL of the symptoms, so it makes since to us now that we found out why. Alex also has seizers and acid reflux. There isn't much more information I can give you on L1 syndrome, since little is known about it, with it being so rare. I would love to find parents out there with kiddos that have L1, please email me if you do!!!
What does this mean for our family?
I have taken a blood test to see if I am a carrier of this. If I am, then 50% of the male children I have will be like Alex, and 50% of the female children will be a carrier. I think (and pray, we wanted another child) it was a random mutation though, or there would be more cases in Mom's LARGE family. For Alex, this means nothing. We will continue tharpy as we have and keep striving to make him the best that he can be. This helps to explaine why he is the way he is, including his small size. BELOW is a picture of alex's tummy. You can see the Shunt tubing in his belly :-)
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