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! :)
Comments
I am so glad that appointment went well, "Mama Bear"!! ;)
"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!". You know more about CCMS than she does!! Not surprising!! Experience is the best teacher!! ;-D
--Raelyn