Monday, December 6, 2010
Last week I received a phone call from two of the girls Doctors. This always makes me a little nervous because it never seems to be good news. Lucy's Genetics Doctor was calling to give us the results of the genetics testing that she had over the summer . She has a deletion on chromosome x in the region of the gene for Duchennes Muscular Dystrophy. The good news she said was since girls have 2 x chromosomes that the other x will take over and she should not develop the full blown disease. The bad news is she is at a very high risk for developing cardio myopathy . She will have to have a thorough heart exam every year to monitor her heart function . If she has children her son would have a 50 /50 chance of developing the disease and a daughter would be a carrier. But the really great news is SHE CAN ADOPT!!! When we adopted Lucy 4 years ago the only special need that was in her file was cleft lip and torticollis. Lucy has become the poster child of all the "Unknowns " that you are to be open to when adopting a special needs child. Every organ in her body is affected with some health problem that we did not know about when we adopted her . The first year home , it seemed like she spent more time in the hospital than at home. But after 4 years home she has grown stronger and stronger each year. She is now doing great ! In January she will have surgery on her solitary kidney, but that should be the only surgery for her this year . This little girl has been such a joy . She has the most contagious laugh of anyone and can make me smile just by looking at her .
The other Doctor that called was Gemma's Hematologist. He was calling to tell us the next step in the attempt to remove the excess iron from her body . Since the daily dose of Exjade was not working and producing too many side effects , the next option is a daily infusion . She will go to the hospital on Tuesday for a test dose to make sure she does not have any reactions and then the home nurse will come to our house and train Ed and I on how to administer this daily . ( Yeah) We are praying this works because the final option is to stay 4 days a month in the hospital on IV. chelation . Gemma will then have her blood transfusion on Wed.
Gemma has the cutest little personality and boy does she love to eat . She can smell food a mile away. Her big Buddha belly grows larger every day and she love her best friend ... Teresa.
Teresa , well she is doing OK. I don't think she has gotten back to her base line yet . (before she became so sick last month from a common cold). For the past week her face and eyes seem to be a little puffy , she also has a little cough that comes and goes . We head back to CHOP on Friday to see if the Sildenafil has had any effect on her lungs and heart . I can't say that I think it has made a difference but I am hoping the echo will show better results. She continues to have the best attitude about life . She walks around all day telling me how happy she is . From something as little as singing a song in church (her favorite church song is the Alleluia , and when it comes time to sing it I think the whole church can hear her) to making Christmas cookies, she just loves life.
Experiencing life through Teresa's Eyes has been such an amazing journey . Even on the bad days she finds such joy in the smallest of things. I never thought one little soul could teach me so much . I see now how much I really do not know about life.
Enjoy the little things in life... for one day you'll look back and realize they were the big things.
Posted by Our Family at 12/06/2010 08:30:00 PM