We had our counseling appointment at the U of M last year. Just as I expected, didn't learn anything we didn't already know. But that's ok. The doctor gave me some great information to help with my goal for the New Year. And I also shared my blog with him, so he can keep up with Genevieve and her care. I thought it was great that he wanted to keep up with her story, I WANT doctors to be interested in EHK, for them to want to learn about it, know about a case, even if they are not treating it.
So what is everyone's goals for the New Year? It's a new year, a new start for many.
I spent a good portion of 2009 sort of grieving I guess you could say. While pregnant, I was told everything was great with my baby and she was healthy. When Genevieve was born with EHK, I was definitely knocked off my feet. I was angry. It was nothing we knew about. Nothing we had ever even heard of. I had emotional breakdowns often, even after getting on "happy pills". I finally feel at a good place with her EHK. I feel I have truly accepted it and am at peace with it.
When Genevieve was in the NICU after she was born, we felt so alone. We felt as if we only had one another. Her doctors had no answers for us. Not even after giving us the skin biopsy results. They had never seen EHK. Had only heard of it from textbooks. Very rarely will doctors even see an actual case in their careers even. We turned to the internet and researched Epidermolysis Bullousa (which they first thought it was before a skin biopsy was performed), not a good idea to turn to google. When she was diagnosed with EHK, we again turned to google and it still wasnt a good idea, but our only options, so no one could really tell us much. That is how I've gotten most of our facts, and information. Google. I turned to the FIRST (Foundation for Icthyosis and Related Skin Types) and asked if they had any contacts for me in Minnesota with experience with EHK. They had no doctors for us, but put me in contact with a lady in Bloomington, who has EHK. She then put me in contact with 2 other families. We now have 4 contacts in Minnesota with EHK, and 6 or 7 contacts in other US states with EHK... thanks to Babycenter.com, FIRST, friends, and our blog.
My goal for 2010 is to start a program for EHK Survivors. People of all ages are welcome. Family members of people with EHK. Obviously people with EHK. Etc. A place for them to get information. Talk to other EHk families. Specifically for EHK. There is nothing like this. Ideally I want to be contacted when a family has a baby with EHK symptoms, whether by a nurse or the family themselves, to be a helping hand to the family. To help them through that tough NICU stay when no one has answers. To let them know it'll be ok and what they can expect. Or contacted after the baby has been diagnosed. I dont want any family to feel alone through that time. After I am contacted, I will talk with the family and see if I can put them in contact with another EHK family in their area (if there is another family) so that they can become friends for a support system. I'd also make sure they were in contact with all the members of the program. So for my fellow EHK families that read my blog, if you'd be interested in participating and being a part of this goal, please email me at aschmaedeka @ yahoo.com and put EHK in the subject line.
We have some very exciting things to look forward to in the next 2 months. First, we get to meet some of our closest EHK friends, Jenny and JJ (Jeremiah). I've written about them on here a few times. They live in Colorado. When JJ was born and in the NICU, his nurse gave Jenny our blog address (no idea who his nurse was or how she got our blog address). Everytime I think about how we were put in contact it just warms my heart. JJ is only 2 months younger than Genevieve, so our families are kind of taking on EHK together. We share advice, we turn to eachother for shoulders to cry on and break down on, and even just to talk about everything. They will be here in Minnesota at the Mayo Clinic at the end of January. Hopefully they can get some answers there for JJ's EHK. He has a very severe case. He's spent a lot of his life in the hospital with infections and nothing seems to be improving his skin. Andy and I will be going down there to meet them and have dinner one night. Myself, and another EHK family (HI TONETTE!) are going to drive down there another night for dinner as well.
Here is a picture of handsome JJ
The other thing we have to look forward to is Genevieve's 1st birthday on February 8th!! I can't believe it's been a year. That's crazy. I was looking through old posts on here last night and I saw the video of her rolling over. I choked up a little. It's seems like just yesterday that I took that video, and really it was months ago! I remember choking up when she rolled over too. It was such an accomplishment for her. Now she is standing and will take 2 or 3 steps if you're holding her hands. Man. She's growing so fast. She has recently finally shown an interest in crawling. I think she just wants to be mobile so badly, that she cant figure out how. haha. She's trying so hard. Soon though. I hope. You can tell she is so sick of staying in one spot.
Genevieve's skin is doing very well. We continue to have sores on her feet, but it's only when we are picking at the build up. She had a blister on Christmas on her calf, but I'm almost positive it was only because I was holding her the entire time Xmas eve and Xmas day, so shifting her between arms and what not. So she is doing GREAT. I am still working on her saying Mama. I'll say Mama, she'll say Dada. She has recently starting to say "Hi Dad" and will lift her arm up and wave. It's really cute. It's always when he's in the kitchen and she'll be on the floor in the living room. haha. She's got quite the personality now. She makes tons of different faces, and will giggle after making some of them.
I guess that is about it for us. We have an ENT appt this week to get her ears cleaned, and an eye appt the following week just to check and make sure her EHK isnt affecting her eyes. Nothing too overwhelming.
I hope everyone had a happy and safe holiday season!
Anna.
Genevieve LOVES to watch Elmo.
She also loves her elmo.
With her new blanket that her Auntie Alicia made her for Christmas.
