I had originally meant to cover everything about the genetics clinic visit in a single post, but you know me. I get a little long-winded. So I decided to split it up, and now I’ll cover what I consider the truly meaningful stuff that came of the’s appointment.
I had mentioned briefly in the previous post that GI considered Namine’s failure to grow and gain weight to be what they termed “failure to thrive.” It is a term we’ve come to hear quite a bit. It means that the child in question is not maintaining a rate of weight gain along the average curve for his or her age group.
GI – and other Children’s Hospital departments besides – insisted on monitoring Namine’s growth along the curve set for average kids. Guess what? Namine is not average. She has caudal regression, and that will always make her height and weight less. To complicate matters further, Dr. Gordon – Namine’s special needs doctor – had a theory that Namine had some genetic condition that explained her petite-ness, and possibly kept her from gaining weight the way other kids gain weight.
Which leads me nicely into the latter part of today’s clinic visit. The geneticist told us that it would be a mistake to try to force Namine to fit in a growth curve meant for other children. The fact that she has femoral facial syndrome indicates that she has been and will be growing at a different rate. Her current rate of growth and weight gain indicates a slower rate; therefore, we cannot reliably depend on her height, or even her weight, as a way of measuring her.
Instead, he suggested, we ought to use several different things: her head circumference and arm span. Her head circumference has been taken before, but not her arm span. GI had always insisted on measuring her by total height or shoulder to knee, neither of which would work for someone with caudal regression. So moving forward, these things will instead be used to monitor her growth. Namine won’t be measured along a curve among her age group; rather, along her own curve. The important thing is that she moves along the curve the same way, and does not remain at the same point for a long period of time.
This, more so than the actual naming of Namine’s femoral-facial syndrome, is the meat of the clinic visit, at least to me. This is what matters – to know what we need to better care for her, to better understand how she differs from typical children. To be frank, not much of this meeting brought anything new to our attention (we did, after all, already know that Namine grew differently); it was nice, however, to finally have confirmation and agreement from a doctor.