Abby absolutely loves to get her toe nails painted! She is constantly bringing me nail polish and asking me to paint them. The other day, I painted her finger nails (a very light pink) for the first time. She was in heaven!!
Friday, May 17, 2013
Thursday, May 16, 2013
Amazing News!!!
I have VERY exciting news to share!! I found out today from our geneticist that a research organization in Canada believes they have found the gene that causes CCMS!!!! Isn't that amazing?! I can hardly believe it.
Abby is joining the study as a way for the team to confirm their findings. She's a "checker," of sorts. Because there are so few people with CCMS, they need as many people as possible to join the study. It can be done by a blood test or saliva sample (cheek swab), but we are doing the cheek swab for Abby. As I have said many times before, I'm not sticking her with anymore needles that I have to!
In addition, our geneticist is interested in gathering patient information for a case study. Her main focus will be on sharing FAIR information about CCMS. As you know if you've been following me for a while, the limited research out there is all very grim. CCMS is NOT the death sentence "they" say it is, so our geneticist wants to give physicians more realistic information so that they can in turn help the parents to make educated decisions. This could be HUGE in helping physicians to understand the need for providing aggressive treatment for newborns.
Please join me in praying for confirmation of the correct gene. This is a HUGE finding that no news station will pick up because it's so rare, but it matters to me...and about 10 others. :)
Abby is joining the study as a way for the team to confirm their findings. She's a "checker," of sorts. Because there are so few people with CCMS, they need as many people as possible to join the study. It can be done by a blood test or saliva sample (cheek swab), but we are doing the cheek swab for Abby. As I have said many times before, I'm not sticking her with anymore needles that I have to!
In addition, our geneticist is interested in gathering patient information for a case study. Her main focus will be on sharing FAIR information about CCMS. As you know if you've been following me for a while, the limited research out there is all very grim. CCMS is NOT the death sentence "they" say it is, so our geneticist wants to give physicians more realistic information so that they can in turn help the parents to make educated decisions. This could be HUGE in helping physicians to understand the need for providing aggressive treatment for newborns.
Please join me in praying for confirmation of the correct gene. This is a HUGE finding that no news station will pick up because it's so rare, but it matters to me...and about 10 others. :)
Wednesday, May 15, 2013
Tuesday, May 14, 2013
Feeding Update
I've stopped writing daily Facebook updates when Abby drinks all of her milk, but I did want to let you know how she's doing.
The girl has taken ALL of her milk FIVE out of the last SIX nights!! Every day is getting easier, and yesterday she even asked for more once she finished! I am amazed at her progress. Something just clicked with her, and I am thrilled!!
We are going to feeding therapy today, and I'm certain that her therapist is going to be just as excited as we are. This just means that we can focus more on chewing this summer...which means big steps toward independent eating!!
For those of you who are wondering, and because I haven't said it in a while, Abby will keep her tube until she has been taking everything by mouth for at least an entire year. Kids often stop eating when they are sick, which would mean we would have to give her a tube feed instead. We're nowhere near getting rid of the tube, but I am loving not having to wake up in the middle of the night to turn off the feeding pump. :)
My favorite thing about this is how happy Abby is that she is tube free. She gleefully announced, "Noooooooooo tubie tonight!!!!!" when I came home last night, then cheered for herself and said, "Abby, I'm so proud of you!" :) The girl cracks. me. up.
The girl has taken ALL of her milk FIVE out of the last SIX nights!! Every day is getting easier, and yesterday she even asked for more once she finished! I am amazed at her progress. Something just clicked with her, and I am thrilled!!
We are going to feeding therapy today, and I'm certain that her therapist is going to be just as excited as we are. This just means that we can focus more on chewing this summer...which means big steps toward independent eating!!
For those of you who are wondering, and because I haven't said it in a while, Abby will keep her tube until she has been taking everything by mouth for at least an entire year. Kids often stop eating when they are sick, which would mean we would have to give her a tube feed instead. We're nowhere near getting rid of the tube, but I am loving not having to wake up in the middle of the night to turn off the feeding pump. :)
My favorite thing about this is how happy Abby is that she is tube free. She gleefully announced, "Noooooooooo tubie tonight!!!!!" when I came home last night, then cheered for herself and said, "Abby, I'm so proud of you!" :) The girl cracks. me. up.
Monday, May 13, 2013
Flutter Byes
We're raising butterflies again! We did this two years ago when Abby was still very little (and very vented!), so it has been so fun to watch her become interested in their life cycle. Every day she torments them checks them out to see how they're doing, and the last 2 hatched today!
You may remember that two years ago, we had a special needs butterfly named Butter. Well, guess what? Apparently, we are the chosen family for all of the little ones who need some extra love, because we got another special needs butterfly this time around! This poor little guy has mangled wings. There have been many times that I thought he was officially in butterfly heaven, but then he would move around a little more. He's a resilient little guy! Guess what we named him?
Yep. Butter Junior.
I let Abby name two, and Caleb named two. (Butter was sort of a group effort). Abby named her two Milk and Cheerios (can you see where her mind is?!), and Caleb named his Cookie and Katelyn. So we have:
Butter Junior, Milk, Cookie, Cheerios, and Katelyn. :)
The names crack me up!
Pictures are coming, but I wanted to at least be able to blog a tiny bit...I have been SO busy with no signs of stopping. Craziness!!
You may remember that two years ago, we had a special needs butterfly named Butter. Well, guess what? Apparently, we are the chosen family for all of the little ones who need some extra love, because we got another special needs butterfly this time around! This poor little guy has mangled wings. There have been many times that I thought he was officially in butterfly heaven, but then he would move around a little more. He's a resilient little guy! Guess what we named him?
Yep. Butter Junior.
I let Abby name two, and Caleb named two. (Butter was sort of a group effort). Abby named her two Milk and Cheerios (can you see where her mind is?!), and Caleb named his Cookie and Katelyn. So we have:
Butter Junior, Milk, Cookie, Cheerios, and Katelyn. :)
The names crack me up!
Pictures are coming, but I wanted to at least be able to blog a tiny bit...I have been SO busy with no signs of stopping. Craziness!!
Friday, May 10, 2013
Ordinary Days
This video is so, so, so true. I have a unique perspective on this, being the mom of a little girl without a known life expectancy. I can say that some of my favorite memories have been the "ordinary days" we've had...watching cartoons on the bed, making silly faces in the mirror, having family cuddle time, singing along to The Imagination Movers in the car...it's about finding the every day miracles.
Grab your tissues, folks! You're gonna need 'em.
Grab your tissues, folks! You're gonna need 'em.
Wednesday, May 8, 2013
Oh, Genetics....Part 2!
I have to say, genetics went much better than I expected! I actually really liked the geneticist, as well as the fellows that also came in. They were all very social with Abby and identified themselves as pediatricians with a specialty in genetics. BIG distinction there.
The only picture they took of her was for her file so that they could put a face with a name...just a regular old cheesy grin! No pictures of perceived imperfections, or even mention of them.
Another thing I really appreciated was that the geneticist recognized that I have a lot of knowledge about Abby's syndrome and didn't try to talk down to me. She answered questions and explained things well, but she also acknowledged that I may even have a better understanding of CCMS than she does! She especially loved how much contact I have had with other CCMS kids and was very interested to hear how they were doing.
We talked at length about the choice we have to join a research project. Her perspective was different than any other I had heard though, and I found it interesting--and true! She said that our reason for joining should be so that we can help change the view of CCMS. If doctors are able to read about the success stories like Abby's, then possibly they will stop viewing the syndrome as the absolute death sentence it's portrayed!
It was certainly an interesting perspective and it has been the topic of quite a few conversations the last few days. I can say that we aren't entirely opposed to it now--and learning that they could just do a saliva sample instead of blood definitely helps our decision a bit!
After discussing my reasoning with the geneticist, she agreed to write an order for Abby to get a chest xray. I have really wanted to know how the ribs are looking, and we haven't had an xray since she was just 4 months old. Just how strong are those ribs? We are waiting anxiously for the results!
I thanked the geneticists profusely for the sensitivity and compassion they showed. I left there with a smile on my face, believe it or not! And don't worry, the momma bear claws stayed in. No need to bring them out! :)
The only picture they took of her was for her file so that they could put a face with a name...just a regular old cheesy grin! No pictures of perceived imperfections, or even mention of them.
Another thing I really appreciated was that the geneticist recognized that I have a lot of knowledge about Abby's syndrome and didn't try to talk down to me. She answered questions and explained things well, but she also acknowledged that I may even have a better understanding of CCMS than she does! She especially loved how much contact I have had with other CCMS kids and was very interested to hear how they were doing.
We talked at length about the choice we have to join a research project. Her perspective was different than any other I had heard though, and I found it interesting--and true! She said that our reason for joining should be so that we can help change the view of CCMS. If doctors are able to read about the success stories like Abby's, then possibly they will stop viewing the syndrome as the absolute death sentence it's portrayed!
It was certainly an interesting perspective and it has been the topic of quite a few conversations the last few days. I can say that we aren't entirely opposed to it now--and learning that they could just do a saliva sample instead of blood definitely helps our decision a bit!
After discussing my reasoning with the geneticist, she agreed to write an order for Abby to get a chest xray. I have really wanted to know how the ribs are looking, and we haven't had an xray since she was just 4 months old. Just how strong are those ribs? We are waiting anxiously for the results!
I thanked the geneticists profusely for the sensitivity and compassion they showed. I left there with a smile on my face, believe it or not! And don't worry, the momma bear claws stayed in. No need to bring them out! :)
Subscribe to:
Posts (Atom)