Tuesday, July 29, 2008

Back from the geneticist

We are in Salt Lake City for Anais' first visit at the geneticist. We saw Dr Rope this morning and it went pretty well. I do have to say that we didn't really learn anything new though which shows how much research we had done!

First, they measured and weighed her. She weighs 8 lbs 14 oz and is 19 1/2 inches long at 7 weeks. Then we talked to a genetic counselor who took our family history, pretty much the same thing the genetic counselor in Las Vegas did when I was pregnant. Then Dr Rope came in and told us a little bit about achondroplasia but it became pretty obvious that we knew a lot about it already. We told him our concerns and worries. We have been a little concerned about sleep apnea because she always sounds so congested and snores almost everytime she sleeps. He did not seem too worried but still wanted to play it safe and check her foramen magnum and make sure she doesn't have spinal cord compression. He also scheduled a sleep study for this Sunday night. The MRI to check her foramen magnum is early Monday morning, right after the sleep study. They do have to give her general anesthesia for the MRI because she needs to stay still. I am a little nervous about that...she is so tiny and there is always a risk associated with anesthesia, but we have to do it. Besides that, he just said to come back when she'll be about 1 year old. What I loved about him is that he said that we could email him anytime with any questions/concerns we might have and that he will reply within 24 hours...that is very rare coming from a doctor!

Now since the MRI and sleep study on Sunday were not planned and we have an appointment with another geneticist down in Las Vegas on Thursday because we also want someone who can follow her closer to home. We are going to fly back down to Las Vegas tomorrow with Anais to take her to the appointment and then fly right back to Salt Lake City until Monday. Sam will stay here with Jeff's mom. I will post pictures from the trip to Salt Lake City when I get home since the camera's battery died and the charger is at home.

I wanted to share my feelings about today. When we walked out of the hospital, we saw a little girl who was probably around Sam's age, about 4 years old, she must have had some form of cancer because she had lost all her hair. It really affected me and I just felt so sad for her and her parents. It made made see that things could be a lot worse and maybe I should start being thankful that Anais doesn't have a life threatening disease. When I was first told that my baby had achondroplasia, I seriously felt like it could not be worse, that my life was over and I would never be happy again. I need to remember that it most definitely could be worse.
Another thing that reassures me is when I see the love Sam has for Anais. I KNOW that Anais will always have her big sister by her side to guide and protect her.
Anyway, overall today was a good day for Anais and us.

Wednesday, July 23, 2008

Visit at the pediatric endrocrinologist

Today, Anais had her first appointment with a pediatric endocrinologist, Dr Dewan, here in Las Vegas. It actually went really well and Jeff and I really liked him. We were hoping he would be open-minded about Human Growth Hormone and Achondroplasia since this seems to be a pretty controversial matter in the LP community. Much to our surprise he was really knowledgeable about achondroplasia. He said that there haven't been a lot of studies about the effect of HGH on achondroplasia but also said that since 2005, recent studies have shown very positive results. He felt that HGH treatment would definitely help Anais. He said that we should start treatment when she 2 years old since the growth from birth to 2 is mainly nutritional and not hormonal.The first 2 years of treatment are apparently the most effective ones. Anyway, we were pretty pleased and really feel good about Dr Dewan.

We want to do this for Anais because we feel like we should give her all the chances we can to give her a more "normal" life and more independence. I honestly don't really understand why this is so controversial in the dwarf community. We are not trying to "change" her, we are just trying to be the best parents we can and really do what we feel is best for her. I do understand that we can't all agree on how to raise our children, even when it comes to health issues.

Sunday, July 20, 2008

Daddy's girl

Sam is SUCH a Daddy's girl and it looks like Anais will for sure be one too. I do have to say that Jeff is such a great Dad, the best.
He ALWAYS wants to take care of his girls and loves them so much. I wanted to post these pictures of Jeff and Anais because you can really see the bond they share, it is so precious.
Also, in these pictures Anais is in her favorite position. She loves to be held upright against our chests with her head tilted back...it is so funny to see. We of course came up with a little nickname for her because of that position. She reminds us of the Great Sphinx in that position because of the way her head is extended and her arms are below her chin. Anyway, WE see the resemblance! LOL

Thursday, July 17, 2008

Nice break from the heat!

Jeff wanted to go to Salt Lake to get some work things organized so I thought the kids and I would go too so we could get away from the crazy heat we've been having here. Sam was really excited to go see Nana and Papi (grandpa in french). She got to play with all her cousins! While we were there, we took the kids to the zoo since our zoo here in Vegas isn't very good. When we used to live in Salt Lake, we would take Sam to the zoo pretty often...I'm not sure who had more fun, her or us! LOL
We also took Sam to a pretty cool children's museum, but we had to leave in a hurry because Anais threw up on me, that was fun...NOT! Poor Anais throws up a lot after she eats.
While Jeff had to work, I did some shopping with the kids which was interesting at times...like when Anais threw up (yes, again) and Sam peed in her underwear at the same time! I also took Sam and Anais to a petting zoo where they have all kinds of farm animals. Sam really enjoyed feeding them and she also got to ride a pony.
Besides that, we didn't really do anything but it was so nice to just relax and not have to do the everyday stuff (dr's appts, errands, cooking etc...)
Also, for two nights in a row, Jeff's mom took Anais with her and WOW, what a nice break that was for us. We had two restful nights!

We just got home this afternoon and it is still just as hot but it is good to be home. We are going to Salt Lake again in about a week because Anais has an appointment with a geneticist up there on the 29th.

Anyway, here are some pictures of our trip:

Before we could leave, Sam had to make sure I had packed her suitcase right, she is so controlling...I wonder where she got that? LOL

Here are some pictures of the zoo:

Sam and her cousin Aiden at the zoo

Pictures from the children's museum:


Just hanging out:

Petting zoo:

Anais enjoying the petting zoo LOL

Friday, July 11, 2008

I'm in Holland

When the doctors announced us that Anais would most likely have achondroplasia, I was so scared...I was completely lost.
A good friend of mine (thank you Michelle) sent me an inspirational poem about having a "different" child. I don't think she realizes how much it helped me, and still helps me. At that time I felt like my life was over, I thought my child would never be happy and have a good life. Now I am starting to understand that Anais' happiness depends on Jeff and I. She CAN and WILL be happy and have a good life. It is still hard at times but I need to remember that I must be a good parent and that as long as she is loved she will be fine.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.
But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Wednesday, July 9, 2008

Bedtime cuddles

So every night when Sam goes to bed she wants to hug and kiss Anais. Last night as we were laying down she told me: "mom go get the camera and let's take pictures"...so here they are, they turned out pretty cute!

Now you know what we'll be doing tonight at bedtime! LOL

Tuesday, July 8, 2008

Anaïs' story

I have been wanting to start a blog after seeing how much it helped me to read blogs where parents were talking about raising a child with achondroplasia. So, this is it..I finally decided to just go ahead and do it.

I thought that for my first post it would be appropriate to tell Anais' story.

In May 2007, Jeff and I decided that it was time for us to have a second child. We were ready and felt that Sam was old enough to be a big sister. Four months later I was pregnant. This pregnancy was a tough one compared to my first one. Every screening test would come back abnormal but we never got a straight answer as to what was going on. Then, when I was about 30 weeks pregnant, I had an ultrasound and the doctors told me that the baby's arms and legs were measuring short. At first they didn't really think anything of it and told me the baby would probably just be short...kind of like me. They said that just to be safe, they would check again in 4 weeks to see how she was growing. Four weeks later, she was still measuring short and her head was now measuring big. The doctors then told us that they strongly suspected that it was achondroplasia but that we would have to wait until the birth to know for sure. These last weeks of my pregnancy were the longest and hardest weeks of our lives. We went through a roller coaster of emotions that I won't even go into.

On June 6th 2008, I had my C-section and Anais was born at 7:51AM. After a bunch of tests (CT scans, x-rays, genetic blood test) the diagnosis was confirmed.

We have been going through so many emotions and we are now determined to give this little girl the best life we can and to love her unconditionally. I can honnestly say that even though she is only 1 month old, she has already taught me so much more than I could ever think. I find myself being more accepting, which is quite frankly a quality I lacked.
My husband Jeff has been absolutely amazing, from the minute we learned about Anais' condition he was fine with it and was ready to give her everything. He truly is a role model for me and I am thankful to have him as my husband and as the father of my children. These kids have an amazing father...just ask Sam and she'll tell you! :)

Here are some pictures of Anais' birth:

Sam showing off her new little sister, she was so excited!
Sam, Anais my mom and me.