Saturday, December 5, 2009

Results are in...

I decided to call the U of M yesterday to check and see if Genevieve's genetic testing results happened to come back early. To my surprise they have! The genetics counselor was nice enough to tell me the results over the phone, but we are still keeping our appt on Dec 22nd to discuss what all the results mean for Genevieve.

For some information, there are two types of EHK mutations. One is a mutation with the KRT1 gene, and then the other is a mutation with the KRT10 gene. The KRT1 gene affects the palms and soles and the KRT10 gene, does not. When I say it affects the palms and soles I mean that the palms and soles of a person affected with KRT1 EHK has super thick callous like palms and soles. The skin will be very thick and often discolored. And obviously KRT10 is normal palms and soles. The way I explained it to my mom is that with EHK a persons skin reproduces at 300times faster than the average person.. but with KRT1 mutation the skin on the persons palms and soles reproduce at say 500 times faster than average and the rest of their body at 300times faster.

This is an example of a KRT1 mutation

Are you ready for the results?

Genevieve's gene mutation is KRT1. So her hands and feet are affected. It was nothing we werent expecting, so we are ok with the results. Her hands and feet have always been pretty bad, but I believe we are doing an amazing job at keeping her build up to a minimum, especially on her hands and feet. Her hands usually just look like they are chapped from the wind or something along those lines. And they (her hands and feet) dont seem like they cause her any pain, so that's a plus. Once we know more about what this means for her (at the appt on Dec 22nd) I will update again.


  1. That's just like Ivy. We didn't have the genetics done, but I'd guess she's got the same mutation. We started using a urea cream on her hands and feet and that has been keeping them nice and soft without any cracking.

  2. Thanks! I will have to look for some :)