Genevieve Mae

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?
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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.

Thankful...

So with the holidays here I took the opportunity to think about all the things I am thankful for. I am thankful for both my family and Andy's. While I do not always feel like I fit in with Andy's family, they have still welcomed me with opened arms and been there for us through everything. All the support from both our families have been overwhelming. I am thankful for our friends, far and near and also those we have parted ways with. I am thankful for Genevieve's diagnosis of EHK. It has helped me and Andy become the best parents we can be. We have learned how to have a voice and stand up for others when things just dont seem right. While it has tore our relationship apart at first, it has finally brought us together again. It has helped us to bond more with Genevieve and with one another. I am also thankful for our EHK friends. Without them, I don't where we would be right now. I have truthfully learned to not take for granted the little things that other people may not be able to do or acheieve.I am also thankful for Babycenter.com and the Feb 2009 birth board. The moms on there leave me speechless with their never ending support for us. Since I found out i was pregnant with Genevieve, they have been there for me. When Viv was born with EHK, they were there. When we needed help with things because we were down to one income after Viv was born, they all pitched in together and sent us packages galore of diapers, aquaphor, gift certificates, etc. When I set up our donation account for Viv's medical bills and Mayo Clinic account, they all donated. I know that no matter what time of day, if I need someone, I can call any one of them and they will be there. While they may not be able to completely relate or know what we are going through, they do their absolute best to help us.