Happy Holidays!

Oh the presents!

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.

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.

Pictures!!! WOOHOO!

our little lady bug on halloween.









her masterpiece on our kitchen floor










Shes finally able to start standing up!

two little teefers

Last week I noticed that Genevieve has two little teeth coming in! One broke through completely already and the other has a corner out. They are her bottom front ones. So exciting!

Sorry this is a quick and short update, it's late.

Here's a recent skin picture taken tonight. She looks GREAT!

dada, dada, dada, daddy!

So Genevieve has always been a chatty little girl, just like her mama. But over the last weekend she's actually started making word sounds. She is successfully saying "dada", "nana", and "baba"... no stinking "mama" though! It's ok though. Pretty soon she will I'm sure. She doesn't understand yet what "dada" means, but she sure loves to say it to Andy!



(you can even hear her say "daddy" in the video)

so proud of my little lady!

seriously...

seriously, could she be any more beautiful?

color changes.

Genevieve is doing well. We had PT today, and I discussed my concerns with her crawling, so we are now going to focus on getting her to stand and then walk. New exercises are always fun. Her PT couldnt get over how big and old she looked today, I'm pretty sure it was only because she (Viv) was finally in a onesie and pants, and not a sleeper like she has always been in. But who knows. She is now 8 months old (as of yesterday). I have no idea, what so ever, where the last 8 months went. The build up on her face is really becoming noticeable now that it's changing colors. :( I tried to gently rub the build up on her cheek the other night while in the tub, and the next morning her cheek had a blister :( she took a tumble the other day while sitting on the floor and scratched her forehead against one of her toys (you can see the sore on her forehead in the picture), she cried for a few seconds, but she's a tough girl.

rain drops.

Genevieve is asleep so sweetly next to me, so I figured I would write. She is doing great. She felt rain on her face for the first time this morning (normally I try to cover her head when it's raining). I wish I could've snapped a picture of her face. It was the sweetest, most innocent look a little girl could have. She hasn't been falling asleep very well lately. She fights and fights and fights it some more. She's been in her crib since birth, so I know it's not from that. Andy moved her into our room the first night and laid her next to me. She reached for my hand, curled her head up next to me and fell asleep within 5 minutes. The following morning she wouldnt take her nap, so he laid her next to me in bed and she did the same thing. Last night, same thing on the couch. And during the day when I want her to nap, I have to lay next to her and act like I'm taking a nap with her. Maybe a little separation anxiety? I have no idea. We have recently switched to having Physical Therapy every other week. It was nice to have last week off, but excited to see Amy (her PT) this week. After talking to some of our fellow EHK families, I've decided to talk to her doctors this week to see if we can stop pushing her to crawl. She does fine with pressure and weight on her knees, but tummy time just isnt going well anymore. We no longer need to wrap her chest, but she screams in pain when placed on her chest. I'm also worried about the trauma to her legs if she were to start crawling. Out of the other families I talked to, none of the kids crawled. If they did anything of the sort, they walked on their hands and toes with their little butts up in the air. Most started walking at about 10 or 11 months. I'd rather focus on building up her legs muscles and getting her to stand and walk, and just skip crawling, rather than causing her pain trying to get her to crawl.

Well, my little girl is staring up at me, talking to me. I hope everything is well with everyone :)

a random but thorough update

It dawned on me that I had not updated recently! Whoops!

Everything is going well. Working on our appeal yet again. So keep your fingers crossed! We are still using cetaphil on Genevieve and it's working amazingly well! Her feet are still soft. Her skin has toughened up and she's no longer getting sores that easily. And she seems a lot more comfortable. Oh and her odor is gone!!! Woohoo! She is sitting up on her own now, and never wants to lay down. Her favorite game to play is "Genevieve says..." which is pretty much she makes a sound, and you try to make the same sound back to her. She loves it. She happens to be curled up next to me as I write this. This goes to show she is very much a mamas girl. We laid her in her crib to go to sleep and she wouldnt stop screaming. After a long time, we decided to just bring her into bed (which very rarely happens), and Andy laid her down next to me, she reached up and grabbed my hand, nestled her head up next to me and fell asleep within 5 minutes. MAMAS GIRL all the way. She now has PT every other week, rather than weekly. We have finally found pants that go on and come off of her very easily without hurting her skin. Weather here is getting really cold, so Genevieve has a very cute hat collection going (ok so only two so far, but they are adorable!). Trying to figure out what to do for her feet this winter since socks usually end up with sores on her feet.

So enough of the random-ness. Not much is new on our end.

Did you know that this week is National Icthyosis Awareness Week? Well, it is. So as a mother to a child with ichthyosis, here is a piece of ichthyosis information for you... Ichthyosis is a family of skin related diseases, characterized by dry, thickened, scaling skin and effects more than one million Americans. I will post more info through out the week :)



one of Genevieve's new hats

appeal....DENIED.

Quick update... letter came yesterday. Medica denied our appeal again.

now on to plan B.

update with lots of pictures

Genevieve is doing very well. We brought her in to her pediatrician to have cultures done on her feet and by the time we got in, her feet looked great and no longer needed to be cultured. So we took that time to just ask questions. Found out more warning signs to watch out for with infections. What hospital we should bring her to. What would happen if we brought her in to the hospital. Asked more questions about the "what ifs" she got chicken pox. We ask a lot of questions all the time haha. Physical therapy is going great still. Genevieve actually fell asleep at the last session. Our PT had her laying on her belly on the swing, with her knees under her body, and Genevieve just mustve been exhausted. We recently decided to switch from Aquaphor to using Cetaphil Moisturizing Cream. It's just like a thick lotion. Her skin is look AHHHHMAZING! Her heels even look great. With the Aquaphor it looked like hard skin on her heels and felt like a shell on her heels. With the Cetaphil they are actually soft! :) The redness of her skin is going down as well. She seems comfortable with it and since her skin is looking amazing we will stick to Cetaphil now.

We have our Genetics Screening on Tuesday. Pretty much they are just talking to us about all of the Genetic factors and discuss the testing with us so we can make a decision if we want to do the Genetic Testing. Although, we already know we want to. They called me yesterday to get family history. I had smart ass comments I wanted to make to some of them, like if my brothers didnt have kids by choice or infertility. And if Andy and I were related. Yup they asked that. It was a good thing I was at my brothers house when they called and that my mom was there. I did not know very much about our family health history, nor did I know ages of some of my deceased relatives.

We had my cousins wedding last weekend. Genevieve was great through the whole thing. She stayed up partying til 11:30pm too lol. Little Stinker. A lot of my family who had not had the opportunity to see her, got to, so that was nice. She was very well behaved, and insisted on screaming bloody murder through the best man's speech lol.

She has also had her first experience sitting in a public high chair. Andy and I decided to go to Perkins for breakfast (something we did almost every weekend up until Viv was born) and she did really well in it. Then I decided to sit her on my lap and Andy gave her a tiny piece of my muffin. She started to choke, I got it out, then she threw up all over me! But she didn't seem phased by it, and I'm glad she's ok.

her poor little feet.

We spent much of last night trying to decide whether or not to bring Genevieve into the Emergency Room. She has been breaking out worse than usual lately, and her sores have been "different". Normally the blisters don't have much fluid, and lately they've been full. Normally they're pink, and lately been bright red and some even bleeding. She's also had a ton more than usual. Yesterday she was rather lethargic. Didnt want to do anything. Didnt want to sit up. Didnt want to go in her jumperoo or stroller for a walk. Didnt want any of her toys. Just wanted to lay on her back and be left alone. I tried reaching a nurse at the ER twice, only to sit on hold for 20 minutes each time before becoming overly frustrated and simply hanging up. I talked to two of the families we know with similar skin diseases and they said they'd bring her in. By then, Andy had already laid Genevieve down in her crib, and she was already asleep, so we decided to wait til this morning to do anything. I'm now waiting for her dermatologist to get in at 1pm and call us to let us know when she wants to see us to do a swab test to test for an infection. It'll be today or tomorrow. So that's all that is going on...

Here is a picture of her feet from last night....

short update

appeal was typed up, only to have our printer ran out of ink halfway through printing it. so after being hand written, it was sent in. We will have a response to the appeal within 30 days. wish us luck!

Physical therapy is going to switch to every other week (instead of weekly) starting in October going til the end of the year. At the beginning of December she will be re-evaluated again.

That's all I have to say. Too much going on in our lives (nothing to do with Genevieve) to really have much to say these days...

So have some pictures.

mayo clinic update.

Sorry for the lack of update in the last week. Genevieve had her 6 month check up... shes up to 16.5lbs and 26.5inches! She's getting so big! Her ear still bothers her, but it's healing. She's been super crazy crabby the last few days... tylenol is back on a regular basis again. :( Her ped said her gums were swollen but no signs of teeth anytime soon. So I dont know if she's in pain from that, or if the humidity lately is bothering her skin... or if her skin is just hurting her in general. :(

We were informed that Medica did not approve our request to be seen at the Mayo Clinic. I wont lie, I broke down when I got that information. I just want answers. Her derm is great, but only has experience with one other family and when we ask questions we dont feel she's confident with her answers. We want answers from someone who has more experience. Like the mayo clinic. They also have treatment options that have shown 90% improvement in EHK cases... so we want to know more about that. My daughter is in pain all the time. Holding her gives her sores. Changing her diaper gives her sores. If it were your child, wouldnt you want to know about possible treatments that could help elimate some of the pain? Wouldnt you want to have your child be seen by someone with more experience? Medicas reasoning was that there are plenty of dermatologists IN NETWORK who can see her. The statistic is that only 1% of dermatologists have experience with EHK. From what I've gathered, most EHK families do not even have a dermatologist. But we are just supposed to take her to another random dermatologist without experience? no. I dont think so. I plan to appeal the decision, of course. I did decide though to take the rest of this week off from everything medical. I needed a break. I needed a few days to free my mind of it. I plan to call Medica tomorrow to find out what I need to do for the appeal, so I can get it rolling on Monday.

We are hopefully getting our membership to the F.I.R.S.T (Families of Ichthyosis and Related Skin Types) Foundation. We've been meaning to since Genevieve was born and we just havent had the $40 dollars to get the membership. =/ They do a large conference every 2 years for their members to meet and spend time together and get information. The next one is in Orlando, FL in June of 2010. It is very important to me for us to try our best to attend that conference. I believe we would benefit from the experience. It's at disney, and Genevieve will be too young to enjoy of any of that, but I figure it's the last summer that we will be able to travel with her on a plane without having to get her a seat as well... and who knows when they'll get back up within the driving distance for us (the last one was in Chicago). So I have been trying to get some things calculated out with that so we can try our best to save up for it.

After recent talks with family and friends about the Mayo Clinic and future medical expenses for her and her medical needs in general... we have decided to set up a donation account for people to donate money to help us meet her needs. If you are interested in donating to Genevieve... http://genevievemae.bbnow.org/


now time for some pictures.

my mom did that picture for me of Genevieve. I LOVE LOVE LOVE it.


shes so cute when she sleeps... and check out those chubby thighs!




my favorite picture.

appointments, appointments, appointments.

Let me go back to the beginning of the week. On Monday while Viv was taking a nap on my lap, I noticed that there was a thin layer of dry blood inside her ear and along the edge of her cheek, so I laid her down and went and got a qtip wet and gently cleaned it off. She slept through it, and a half hour later I noticed it was bloody again. So I cleaned it again and tried to watch to see where it was coming from and couldnt figure it out. So I immediately called the doctor and made an appt for that day. Turns out we need to make her ear cleaning appts closer together. Her left ear was completely clogged with skin and wax and she had been pulling on it and sticking her fingers in it for a few days at that point. Apparently she scratched her inner ear with her nail, and thats what was bleeding :( poor little girl. her pediatrician cleaned out her ear a bit and said that if she starts pulling and sticking fingers in it again to call and get her ENT appt sooner (it's at the end of September).

We had our neurology appt yesterday morning. Genevieve checked out great. The only concern was that she doesnt have much muscle in her legs. We've been told to keep up with physical therapy... and try to put more weight on her legs by doing things like her jumperoo. And physical therapy yesterday went great as all. She's doing great with sitting up :)

I contacted our insurance today. They are still making a decision about our Mayo Clinic appointment. I'm remaining hopeful that they approve our request and will pay for our Mayo Clinic appointment. If not, we will have to cancel. We cant afford to pay for it all. :(

Well it's been a while. My mind draws a blank as to what I've been so busy doing. Genevieve is doing great. I cant believe shes 5 days shy of 6 months old. Seriously where has the time gone? Before I know it she will be a year old. Must capture more memories on camera.

We have a very busy month and a half ahead of us. So busy that I get overwhelmed just thinking about it. I believe at last count we have 14 appointments in the next month and a half. Including quite a few pretty big appointments. We see the neurologist on Wednesday. We have our appointment at the Mayo Clinic at the end of the month. We see our regular derm again. And we have our genetics screening in this month and a half too. Lots of time that Andy has to take off work to go to these new appointments, and somehow it's supposed to be ok for him to go out of town. We just cannot afford for him to take any more time off work, and we have things every weekend too... so he doesnt have much time to make up these hours that we cannot afford to lose. But nomatter how many times I explain it to him, he just doesnt "get it".. or better put, he just doesnt understand. So thanks, lets add more stress when it comes time to pay bills and we dont have the money. Anyways. Due to this, I will most likely be cancelling some of these *big* appointments so he can go out of town and i wont have to worry about time he has to take off for these appointments. UGH.

Anyways. Happier times. Genevieve is still doing amazing. She can pretty much sit up on her own now. And she is back to eating solids. She had a little bump with apples (she developed a small rash on her cheek)... so we put solids on hold for a bit, but before apples she tried carrots, sweet potatoes, and pears. She has now added "na-na's" to the list... and i must say, she loves them (but what kid doesnt love bananas?). She has learned to go "mmmmmmmm" after many weeks of me saying it for her when she would eat... and also in attempting to help her learn to say "mama" haha. She sucks on her top lip. And sucks on the corner of her bottom lip. Its really quite cute. She's also started to "hug". We've also gotten to hear a few actual laughs out of her... where before it was as if they got stuck haha.

So the next month and a half is busy busy for us all. We have those major appointments for Genevieve (plus weekly physical therapy appts and a 6 month check up with her ped). We have a wedding for a friend of Andys. We have my cousins wedding. We have a bridal shower. A baby shower for another cousin of mine. Andy's brother has a car cruise and car show going on down in Northfield. I guess after looking at my calendar its a busy next 2 months (august and september)... the last half of september we have 2 appts each week. Oh man. Oh!! And the most exciting thing of the next month... I have planned a together for us to meet the other families in Minnesota with Genevieve's skin disease!! All but one family (we know 4 other families in MN with EHK) have confirmed being able to show up. So it will be an amazing day. We are meeting at the MN Zoo so the kids can have some fun, and there is both indoor and outdoor stuff (in case of weather).

Cute story about Genevieve... Andy, Viv and myself ventured to Babies R Us over the weekend to buy a baby gift for my cousins shower, I'd love to say what it is but I'm not sure if she reads this lol... we got home, and I showed Genevieve and she totally stole it. She started hugging it and didnt want to let go. It was the last one at that store, so today I had to go on an adventure to the other Babies R Us stores nearby to try and find another one for my cousin. lol.

I'll get some updated pictures soon, but here's one for now :)

She was enjoying her "na-na's"

please pray for little Stellan

His little heart is not doing well. He needs our prayers now. If you don't follow his blog, follow it now. He, and his family, are truly amazing and inspirational.

http://www.mycharmingkids.net/

News Story

This story was brought to my attention by another family with EHK.

It really explains EHK in terms that everyone can understand.

She's on the move!

Well sort of. haha. Genevieve has started to roll from her belly to her back, successfully. Which makes physical therapy exercises a pain in the butt! The second you get her to her belly to do tummy time she wants to roll over! Little stinker.

She had an Xray done last week because they were afraid she had hip dysplasia... but we got the call yesterday and everything looks great. we just have a stubborn little girl who doesnt like to lay her legs straight lol.

She is continuing to make great strides with physical therapy. she LOVES tummy time and screams when you flip her back over, even if she's fussing. She is sitting up almost by herself... she'll be doing it in no time. I have confidence. She also loves to sit up. She gets super excited.

I also cannot believe how much she talks. talk talk talk. that's all she does! It's adorable.

She's also becoming shy. She just loves to cuddle when I'm holding her and we are around new people (or just people in general). She cuddles her cute little face as close to my chest as possible and doesnt want to look at people, and hangs on for dear life.

So I am a very proud mama

The improvement Genevieve has made in the last week blows me away. She didnt have physical therapy this week because her PT was out of town... so we've been working very hard on her exercises. Man oh man, she's doing great. I can actually hold her to my chest with one hand and not fear her falling backwards because she cant hold her head. She will do tummy more than once a day without fussing. She actually will lift her head and look around and move her arms and put them back under chest. She will do tummy time both with a boppy and without and have just as much improvement both ways. She pulls on your hands now when you pull on her arms to pull her up to sit up. Where before you felt horrible because you were simply pulling on her arms and she couldnt fight you back about it. She can almost sit up all on her own. She will sit in her jumperoo and hold her head up and look at toys and try to play, where before she would be unhappy and rest her head on the side because she couldnt hold it. All this improvement in the last week. I am so incredibly proud of her.






Viv had a check up on Friday.. just a quick one to see how her reflux meds are working. Things look great. She is up to 15 pounds 1.5 ounces!! She's getting so big! :) Her pediatrician is a little concerned about her right hip. Therapy seems to only be correcting one of them, so if it's still a concern at her 6 month check up in August, we are going to schedule an ultrasound to be done on her hip to just check things out. With her improvement in the last week, I doubt it will be needed.

Oh and we started oatmeal! She's still iffy on it though haha.




and she's a thumb sucker now!