Grace's journey

Doctor Appointment Today!
SO today we went to go see Grace's geneticist and genetic counselor to get an update on paperwork, update on Grace's files, and to sign off on permission to share her picture and files to Dr. Dobyns (leading Microcephaly Researcher). I didn't really know what to expect at this appointment, and obviously, neither did Dr. Tezcan!
When we first walked in, they were stunned! She said, "is this Grace?" And we were like..."um...yeah." And she was just so happy to see how healthy she looked! She said, "I was NOT expecting to see a Grace looking like this!" And while saying that, she pinched the chubs on her leg. We discussed developmental aspects, and we shared with her the signs that Grace can do, showed her how she crawls (pretty fast these days) and about other developmental things we've seen her do. She asked about eating, and told her we were still working on transitioning to adult food, as she's having issues with the chewing rather than just sucking. We let her know Grace was on Pediasure for the extra calories and she goes, "oh, so how much of that does she get a day? One bottle?" And I was like..."Um...no...like...3-4 8 ounce bottles a day." She whipped her head around and went..."WHAT??? Are you serious???" So after that bit of excitement we realized that with Grace's low muscle tone (because of the 7Q36 gene deletion) we need to be VERY VERY careful that she doesn't get overweight, as she WILL NOT be able to carry herself crawling or walking. As she gains more weight, it will take away from space available to the muscle to grow, as well as making her too heavy! And even though we are feeding her that much, she was actually less weight than before! She's back to 19.5 pounds for some reason...
Anyways, she was super excited to see that Grace was crawling, and she didn't see any sign of autistic features (which I'm super excited about) and her communication skills (the little ones I miss like making eye contact, looking when her name is called) made Doc so happy! She and Kelly (genetic counselor--basically the translator for when we go over the genetic stuff) couldn't get over how well Grace was doing. From further checking, Grace has a high palate in her mouth, so they said to keep an eye on her eating and make sure no food goes up into her nose, and she confirmed my (and the PTs thoughts) that Grace will need braces to fix her feet, as they are curving inward. She was also measured for length and head circumference, but I didn't get those measurements, but once I email the doctor to get them, I'll add them to here!

One thing that I was worried about...among tons of others...was that when I take Grace's picture, sometimes her left eye's pupil (in the picture) turns out a pink to even yellow color, and I've seen in researching that that could be a sign of a tumor in the eye. But she checked it, didn't see a mass, and said it's probably because that's the eye with the dilation problem, so it's just catching the light at different angles and depths. Phew, that's good. We also discussed the idea of a walker, and I explained to her that both land and water PT's say to wait until she's older, that way we give her a chance to learn on her own. But I also let her know about our walker experience, and that I don't want Grace crawling while her peers are walking, and that I want to push her a bit to be upright and mobile. I even told her about the PT's worrying about her becoming dependent on the walker. She totally agreed with me, actually both of them did. They totally agreed that she should get a walker now, and actually have two other patients with similar issues that they gave walkers too, and they were fine in transitioning to walking. But they did say the mother's had to be really pushy to get what they wanted. She said it'd be great for Grace to see that she can walk rather than just crawl, and when she realizes it, she might be more willing to try on her own to walk. She definitely sees Grace walking independently (without a walker) in her future, just at her own pace. SO that's wonderful news, and when the PT and Infant Specialist come tomorrow, we will be discussing getting a walker for Grace! I'm so EXCITED!!!!

So a good day...and at the end, Dr. Tezcan said something that just made my heart melt...we were discussing that as Grace gets better, she won't need to be followed as frequently as she is now by Dr. Tezcan. And I said, "well, I'm glad we are seeing you now! I love that you guys see us as people, rather than just a number. You guys don't get us in and out, hurry up. I like that you take our time seriously, and are slow and patient with us." And she said, "oh, no, we don't see you guys as numbers at all. Grace is a wonderful child. Will I ever forget her? No. She will forever be remembered. She's been so influential in my life." And that's ALL I WANT GRACE TO BE!!! An influence to others!! WOO HOO!! In 16 short months, I know for a fact that Grace has influenced and touched someone else's life (other than just mine and the rest of her family!) Oh that's so wonderful. So all in all a wonderful doctor appointment. And here's a picture :)
Amanda