Genevieve Mae: December 2009

Saturday, December 26, 2009

Genevieve had a pretty good Christmas. We spent Xmas Eve with my Mom's side of the family and Santa came to visit over there. Genevieve immediately went for his beard!! The girl loves hair, what can I say? lol. Christmas Day was spent with my Dad's side of the family, as well as with Andy's family later in the day. The only thing I wish I couldve changed was for my Dad to be with us for Christmas, but I totally understand that he couldn't make it up from Phoenix. Hopefully we can get down there in the Spring so Viv can meet her only Grandpa. She got tons of clothes for Christmas, which is GREAT, as well as some books, movies, only a few toys (thankfully, since our living room is crowded with her toys already... I swear she has more toys than ToysRUs!), and her beloved Cookie Monster puppet! For 2 months now, everytime we go to Target in the toy area... the second she would see this puppet, she would light up and smile. So of course she had to have it for Xmas, thanks to my Dad :) I made sure to take it out of the box before I wrapped it so she could have it right away, and sure enough when she unwrapped it and I opened the box, her eyes shot to me, and shot back to Cookie like "really mom, can I have him?!" it was absolutely adorable. I'm happy she had such a good Christmas. Oh and a white Christmas at that! We got so much snow here... probably roughly a foot fell Xmas eve and Xmas day. It's beautiful... however now it's all turning to ice, so the roads suck.

We have our Genetics Counseling appointment on Tuesday (it had to be rescheduled), so they will be telling us more information about the KRT1 Mutation. I doubt it will be anything we don't already know, but we wanted to keep the appointment just in case.

In just a few weeks we will be meeting our amazing EHK friends from Colorado, Jenny and Joel. Their son, Jeremiah, is 2 months younger than Viv and has a severe case of EHK. They are coming to be seen at the Mayo Clinic, so we will drive down to have lunch/dinner with them. I'm super excited for it. They've been our "closest" contact, as we are kind of going through it all together since the kids are so close in age.

I'm sure I will update again after our Genetics appt on Tuesday. As for now, I'm freezing and must go! I hope everyone had a great and safe holiday!

pics from xmas.

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.

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.