Last week, we had Collin's long-awaited visit with the endocrinologist. The quest for growth hormone began last summer when Collin's geneticist mentioned somewhat off-handedly that Collin would probably benefit from growth hormone since it can be very helpful in children with low muscle tone/strength. That was all he needed to say. We immediately started our own research, polled our other doctors, and started trying to get in with the person we saw as the best pediatric endocrinologist in the city.
It's hard to believe that I could still have been naive after a year and a half of working with the medical system on Collin's behalf, but I really did think that I would be able to just explain our situation and the doctor would approve growth hormone for us. Instead, we learned that Collin had to actually show evidence of a growth hormone deficiency in order to receive growth hormone therapy (crazy thought). There were two ways he could do this: one was to do a blood test to see whether his body made enough growth hormone. This test turned out to be a fairly traumatic experience for both of us and revealed that his body does make sufficient growth hormone anyway. The second option was to wait until he was two years old and see if he was low enough on the growth chart to indicate that his brain does not dispense sufficient growth hormone even though his body makes it. As the day for that appointment drew near, I practically cheered every time Collin's nutritionist visited and told us that he hadn't grown and I gave Collin lots of pep talks about staying short.
The endocrinologist informed us that Collin had not, in fact, grown well over the past six months. He is quite a lovely man and easy to talk to and he treated us to a thorough discourse on the pros and cons of starting growth hormone at Collin's age (few, if any, cons) and an exhaustive recounting of the studies that have been done on possible side effects of growth hormone (the short version is that there really aren't any for Collin). At several points, I was totally confused as to whether or not he was recommending the treatment, but as soon as I finally had a chance to tell him that we were in favor of starting treatment as soon as possible, he broke into a smile and said that he felt we had made the right decision but that he hadn't wanted to tell us what to do. I suppose I could have told him as much at the outset and saved him some time.
It also turns out that growth hormone is beneficial in more ways than growth curve and muscle strength. It improves the function of virtually all organs (we're especially excited about liver support since Collin has been on some major meds and the ketogenic diet is no picnic for the liver, either), it stimulates the optic nerve to grow and improve in function (see next section), and it increases appetite, which we're hoping will be helpful in what feels like our never ending struggle to get Collin to eat. Between insurance approval, acquiring the growth hormone, and getting trained in giving the shot, we're hoping to be up and running within a month.
Yesterday, Collin had a checkup with his ophthalmologist, whom he hadn't seen in over a year. The doctor had previously expressed concern that Collin's optic nerve might be pale and small and I also wanted to make sure his retina looked healthy since he is on oxygen every night now. The basic message I got, after sorting through some inconsistent comments that I suppose just come from not seeing Collin very often, is that Collin is still extremely farsighted, but that glasses would not help him at this point. Also, though most of his vision issues are cortical (originating in the brain), a small percentage could be from his optic nerve itself. If that's the case, we're keeping our fingers crossed that the growth hormone will be able to give Collin's vision a boost!
All in all, it's been a positive week in the doctor department. Collin did end up picking up a cold this weekend (I write that calmly, but I'm really shaking my fist in the air because he ALMOST made it through cold and flu season unscathed), but we're hoping is super awesome immune system will fight it off quickly and prevent a trip to another doctor.