Manny and I are extremely happy that we were able to go. Unbeknownst to us, the gastroenterologist we met with, Dr. Kathleen Motil, is actually the leading G.I. specialist for Rett girls in the world. Two decades ago, the life expectancy after the diagnosis was bleak. After Dr. Motil's work and understanding of all that Rett girls need, she has doubled the life expectancy through her work at the Rett Center and in her own research.
She spent over 2 hours with us, an appointment that began at 7:30 a.m. sharp (yes, that was a rough wake-up call!) and went almost to 10, listening to our concerns and then addressing her own for Anna. I'll save the medical terminology and textbook jargon for after a night of subtle drinking, but the big news that is that she doesn't think Anna needs a feeding tube at this time. She wants to give her another 6-months to see how she does, and as long as we can pinch a bit of chubs off her belly and her thighs, she is okay with our Miss Anna. We were quite relieved that we don't have to do this right now.
We are changing up some medications and replacing PediaSure (which I thought was expensive enough) with a different nutritional supplement, Vital Jr. This runs about $160 for a case of 24 cans, which will last a week or two at the most. Right now, I am touching base with our insurance company to see if they will cover it with Dr. Motil's consult letter and high recommendation, and if not, hmm... Back to the drawing board and lots of, ah hem, assertive phone calls.
I'm also trying to navigate through the resources the IRSF provides, but all in due time. (Probably tomorrow.)
Anyway, after finishing with Dr. Motil, we headed downstairs to see Dr. Jeffrey Neul, our new developmentalist who is also a pediatric neurologist and Rett researcher. He actually works with the doctor and researcher who discovered the gene that causes Rett Syndrome, Dr. Huda Zoghbi, who also conducts all of her research out of Baylor College of Medicine, which houses the Rett Center, in association with Texas Children's Hospital. Confused yet? I hope not. It could be attributed to that terrible run-on sentence that I am just too tired to correct right now.
Our meeting with Dr. Neul was very productive. It was quite a grueling process going through Anna's developments, milestones, delays... It was such a meticulous process, trying to remember every skill we acquired, lost, and regained. One thing we were able to take from Dr. Neul was that he thinks Anna has already experienced her first major period of regression, from the time she was 6-months to 14. We are in now what he calls a stablization period. On a preliminary basis, it seems as if she has found a baseline. We won't know for sure until age 4 or 5, when we can possibly better evaluate the seriousness of her condition. He gave us a glimmer of hope when he told us the genetic deletion Anna has is a smaller one on the C terminal, and is more often associated with milder cases versus severe.
While he was quick to assure me there is no certain way of knowing, and only time will tell, we all know that Anna will teach us as much if not more than we will teach her, and the most important thing to do is to keep her healthy and nourished. Rett girls tend to have Vitamin D and calcium deficiencies, so we are also starting her on a special multivitamin to keep her bones strong and immune system working hard.
As Anna nears two years old, despite her lack of hand movements and speech, she is one feisty gal who is learning how to manipulate many situations. For instance, when Dr. Neul and I were discussing whether Anna waves hello or goodbye, I told him she used to all the time, but now she mainly just flaps when excited or upset, despite us trying every time one of us leaves or comes home. The next thing I know, Anna starts yelling and waving her right hand. It was as if she was saying, "Whatever Mom! Look what I can do, I just choose not to do it!"
The nurse we met with before signing Anna up for the natural history study (where they track her growth and development to gain more knowledge on Rett's) told us to make sure we give her choices. If it's time to eat, show her two foods and let her pick. Even if she isn't pointing or verbalizing, she will look at the one she wants. The nurse shared a few stories of girls who were able to pick out their clothes in the mornings just by their moms holding up two separate outfits.
It opened my eyes even more, to see, once again, Anna showing me she is so smart despite these limitations. The human body and the human spirit will find a way, no matter what.
The natural history study comes to New Jersey twice a year, and once we can get an appointment there, we no longer have to go to the Rett Center (as long as we are study participants). Sometimes it takes a year to get an appointment at the clinic they set up in New Jersey, so we may have to head back to Houston one more time before then, but long-term, it looks like we can see Drs. Motil and Neul a few hundred miles closer to home.
It was a good trip, filled with lots of new knowledge (we weren't teaching the doctors or nurses about Rett's this time!) and a new comfort in the Rett community that seems to be a close-knit one. Next year, Manny and I have our eyes set on the annual conference, a weekend filled with meeting Rett families and listening to leading doctors and researchers in the field. This year's conference is in a few weeks in Colorado, and I don't see that logistically happening at all. Plus, I don't want to go there with my L-I-T moments still flaring up. It's just been since the end of February that we've found this all out, and when I think all that we have accomplished in 2 months, I am happy. There's still a lot to be done, but one day at a time, right?
1 comment:
I am learning so much from you guys not just about Retts but life in general! I know I say it often but I am VERY proud of you! You are amazing! Love you!
Post a Comment