Yesterday was a LONG day. We drove to Gainesville, Florida and back - leaving at 5 am and returning at 7 pm. We met someone last year who offered us a place to stay when we went down there next, but I couldn't remember who offered that, so down and back it was!
Dr. Miller is just a fabulous human being. When Rafe and I saw her last year, it was the first time I'd felt any hope for Olivia's condition. She was just so cheerful and upbeat about Livie's future that it eased a knot I didn't even know I had until that moment. This is our third visit, and it was exactly the same. She has this energetic aura about her that is simultaneously intense, enthusiastic, cheerful, and highly skilled. She bounded into the waiting room, recognized me and said, "Is this Olivia?!! I hardly recognized her, she has grown so much!!" Dr. Miller immediately swooped Olivia up into her arms and started cooing and talking to her. She spotted another beautiful PWS child in the waiting area and went over to say hello to them. In a flash she had both children on her lap, hugging and playing with them and introducing them to each other. There was a part of me that had a momentary panic wondering if the other child was sick (Livie's immune system is still compromised) but I trusted that it would be all right. I just have that much faith in Dr. Miller that I felt Olivia couldn't possibly get sick in her arms!! hahaha :)
She is now 21 lbs and 31 inches long, perfect for her stage. We were able to show off how much more she could do - including trying to stand when held upright. I mentioned my concerns about her defecating as much food as she was taking in; asked about her nutrient absorbtion; the difficulty eating lately (it's starting to take between 45-90 minutes to feed her each meal); her W sitting, biotene vs mi paste, and if we could test for carnitine, calcium, etc. I did forget to ask about a sleep study, but I feel that if it was warranted at this time she would have mentioned it.
The answers were both surprising and validating. Surprising because all the issues we've been having with her are innocuous taken seperately, but they apparently added up to some valid issues due to PWS. Validating because sometimes they seemed so minor that I almost felt I was making too big of a deal by commenting on them, but something didnt' seem right to me. Olivia was prescribed carnitine after Dr. Miller accurately told us the behavior of a child who is low on carnitine - sleepy during the meal, almost passing out sometimes, then immediately perking up after they are done eating. DING! Solution one.
Olivia is going to have a lot of bloodwork/tests done in the next few weeks. A fasting lipid test to find out if her body IS absorbing what it needs to. Apparently there is a period of time in some PWS children where they don't absorb much and we have the symptoms of constantly dirty diapers. Dr. Miller mentioned the medical term for it but I can't recall it. It also could be a virus that migrated from the cold she had into her intestinal tract - the time frame is right. She said it sometimes migrates after the cold has run its course and that would be about this past week.
That test is going to be a struggle - it's hard to do a blood draw on PW children, because their low muscle tone prevents the ability to hold the blood vessels in place as well and they "roll" when trying to draw blood. The solution is to hydrate the kids as much as possible before the draw. Olivia is not a big fan of water, and that is the only thing we can give her for 12 hours before the lipid blood test.
We're also doing free T4, IGF1, IGFPB-3, Carnitine Profile, BMP with Ca, Mg, Phos, 25 OH Vitamin D3, Liver Function tests. All of those will be done at MUSC in Charleston since our local hospital doesn't have the ability to do all of them. I'd rather one stick for all of those than 2 if possible.
She recommended theratogs to support her sitting to keep her from the habit of making a W with her legs; and threw in the bonus recommendation of using Sure Steps for her feet. Dr. Miller noticed that Olivia was already standing with assistance and that her feet were pronating. She mentioned that many PT's will wait till she would actually be walking, but she feels that since she is standing on her feet, the earlier she learns the right habits the better it will be for her feet. We were supposed to get a prescription for that also, but in all the hubbub of issues, it was forgotten by both of us. I will just have to email her and ask for it or ask my own pediatrician for it.
I've posted about my Biotene issues on here, but Dr. Miller said we could use the drops only, not the paste or gel, just a couple times a day, especially before speech therapy. Mi Paste is less for salivary issues and more for teeth protection, so it wouldn't work for our needs.
One of the most interesting pieces of news was that right now Olivia is still getting hungry AND satiated. I told her that I felt that Olivia showed definite signs of not wanting to eat more after eating a decent amount and I was worried that we would teach her body to override what little signal it did have and ignore her feelings of hunger/fullness. Dr. Miller agreed. She feels we should no longer try to feed her by the numbers as much as we have been, but instead follow her hunger cues. It was very exciting for me! This doesn't mean she won't suffer from the hyperphagia, but just that she doesn't suffer from it right now. There is still time for a miracle cure! Yes, I know it's a long shot, but I'm finally hoping for one.
We'll be back in 6 months. At the 2 year mark, Dr. Miller will also have a speech therapist there to check for apraxia. If it is there, then the ST will work with us/our ST to correct that.
All in all, it was a great visit. A lot of questions answered and some positive affirmations on how well Olivia is doing. It is hard not to compare your child with others who have the same syndrome and wonder how far behind she is. Considering her extremely rough start, she is much farther along than anyone anticipated. I am so grateful for our Tricare insurance, my family, friends and support systems. Without all that, she would not have achieved as much as she has.