Today we spent most of the day in Morgantown, at WVU in the infusion center. Cady is very, very tiny for her age. At 16, her bone age is 144 months (12 years exactly) and on the growth chart, she would be the size of a normal eight year old. She has not begun puberty yet, and this began to concern some of her doctors. We first investigated whether her bone age correlated with her chronological age to determine if she needed estrogen to begin her cycles.. it obviously did not correlate, and since it is reasonable that a 12 year old might not be on her menses yet, estrogen therapy was not pursued. No sense pushing her into something that she's not ready for, and there's clearly time that she may do it on her own. Once it was established that hormone deficiencies were not the culprit in her delayed puberty, then growth hormone studies were ordered. From previous, and relatively recent, MRI brain scans, it's evident that there isn't anything structurally wrong with Cady's pituitary. Now we just have to make sure it's doing what it's supposed to do hormonally. That's what today was about. Cady was given IV access and an infusion of arginine to stimulate growth hormone secretion. Then she was given a clonidine tablet for the same reason. Every 30 minutes blood was taken to test for growth hormone. I should learn the results in about two weeks.. If the results come back deficient (no one expects them to, we are all betting that the PA and mitochondrial energy deficiency is enough to stunt her growth), we have a small window of time to supplement Cady with growth hormone and encourage growth. At 144 months, Cady's bones have experienced about 93% of their growing period. If in fact she is deficient and receives supplementation, we may just squeeze another two inches out of her before she stops growing.. she'll top the charts at a whopping 4'8". I'm betting that her growth hormone is not deficient, that her bones and pubertal growth spurt will correlate for her like they do everyone else, just later. I'm still betting she'll get those 2 inches on her own. She may be 21 before she gets them, but I bet they're there.
Propionic acidemia brings with it a whole host of other systemic problems. We see a Geneticist for specific management of the disease itself, an eye doctor to watch for possible optic nerve atrophy associated with PA (she has none), there are sporadic cardiology visits to monitor for cardiomyopathy (again, none, Praise God), now endocrinology is following us for delayed puberty, gastroenterology follows her for treatment of the gut flora that is a common culprit in rising ammonia levels and subsequent liver and brain damage in PA, and since her coma of '09 that destroyed her auditory nerve, we also see audiology, as she now wears hearing aids. Another common problem with PA is osteoporosis, but thankfully again, Cady is unaffected by this, as her bones may be young, but there is no abnormality in mineralization or density.
Despite all these things, Cady is happy and loving. There is no one's heart that she can't melt. And there's not a day that I take her presence with us for granted. What a blessing that is in itself.
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