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.
My Longtime Goal Has Come True
5 weeks ago
6 comments:
Isn't it amazing how much more we know sometimes then our own doctors? Kaela being so rare we come across this quite often. I know it's scary putting our babies through the MRI so young. Kaela had one and had to be put under anesthesia when she was 5 days old so I understand what it's like. Just make sure the doctors are aware of her condition that are doing the anesthesia and you will be okay. Waiting is the hardest part. Kaela has to have another one in Aug. and I know that's going to be even harder because she's going to be scared vs. at 5 days she was clueless...not to mention the no eating before hand. Not eating and Kaela don't mix well :) anyway- I'm glad your visit went well and hope the rest go just as well. You have two gorgeous girls and you are right Sam will always be there for her baby sister! It sure doesn't take long for them to bond does it?!
Just remember your feelings are completely normal. I don't know if any one ever jumps up when they hear that their child is going to be different. The issue is that the term "different" takes on a whole new dimension.
I have to say Preston having achon does not affect my everyday life. It's there, but it does not define him-it's just a part of him, just like his hair color and eye color.
Want to know my biggest fear when Iwas pregnant and found out about possible dwarfism? I was so worried that he would look like an alien baby. I thought he would be stared at and pointed at. (He isnow, but for much different reasons :-) )
I bet one thing that has happened to you is you have changed. I know I did. Certain things prior to having Preston that meant the world, now mean nothing. I find I am more understanding and patient-although part of that comes from just being a mom.
Remember-you were picked for Anais for a reason.
Hugs!
Kim, I felt the same way when I was pregnant. I remember when Anais was born I kept on telling my husband to go look at her because i was so scared of what she might look like...
You know, I HAVE changed. I am much more accepting and understanding than I was before...not sure about the patience thing though! LOL
I loved kims comment. I'm excited for Jeff and you, and all the information you have found. I really like the pro-active attitudes you both have.
I know EXACTLY how you feel. When I first found out about Cole's dwarfism, I was beside myself and thought that life was over. Then I started hearing and seeing other children so much worse off and I was thankful that I got to spend every day at home and not in a hospital. Over time it becomes so much easier.
Cole had an MRI when he was 5 weeks old and we were able to do it without any anesthesia. They did it with a sleep and hunger deprivation. Sounds worse than it was. We didn't let him sleep for like 4 hours before hand and no food. Then, right before the MRI, he got a big warm bottle and fell fast asleep. Amazingly he stayed asleep the entire time. He was so young that it worked, but his second one he was put to sleep. Maybe that could work for Anais?
Anisa and your family will be just fine! Having a confirmed Achondroplasia dx is just the beginning to a amazing experience!
Medically and personally! Our babies are special and our families are better because of it!!
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