So, overall Rufus has no diagnosis. But there are parts of his body that do have a diagnosis. And yet, he doesn’t present as a clear cut case. Natch.
The largest piece of the jigsaw is Congenital Nephrotic Syndrome. After some costly genetic testing, they can’t find a blip in the wiring here.
Nephrotic syndrome is a condition where the glomeruli do not work properly and leak a lot of protein.
The protein is lost in the urine so, in turn, not enough protein is left in the blood to soak up the water. The water then moves from the blood into body tissues and causes swelling or puffiness. The medical term for this swelling is oedema. Nephrotic syndrome occurring in the first three months of life is called congenital (present at birth) nephrotic syndrome.
This is where it gets hazy. Rufus has lots, and I mean a truckload, of protein in his urine. Bodybuilders should be hunting down his special lemonade. And yet, after an initial period of swelling, as of now, nearly three years later, it hasn’t returned. The protein in his blood somehow stays relatively static. It’s half of what you or I function on, but somehow he keeps it in a manageable state despite his hole in his bucket kidneys.
The primary problem in congenital nephrotic syndrome is in the kidney, specifically the glomeruli, causing leakage of proteins. In the long term, this defect usually leads to a decline in kidney function with eventual kidney failure. Initially however, the problems are caused by the loss of proteins. Proteins have a lot of very important functions in our blood. As mentioned above, they help regulate the amount of water in our blood vessels, so with proteins lost in the urine, children with congenital nephrotic syndrome can swell up.
So, yes, a biopsy has confirmed the first bit is true. But nope, as yet, and with one hand a rabbit’s foot and the other clutching heather, we haven’t seen a return of the swelling.
Proteins have many more functions. Specialised proteins called antibodies are an important part of our immune system. If antibodies are lost, children are much more likely to get infections. Proteins also act as carriers for many substances in the blood such as hormones and lipids. Therefore, the regulation of these substances can be disturbed in congenital nephrotic syndrome. Proteins are also important building blocks for our bodies in general so children with nephrotic syndrome often have difficulties in growth and development.
This is all true for Rufus. And yet, rather than just finding growth and development a little difficult, he’s found it Rubik’s Cube hard. It’s fair to say he and growth and development fell out somewhere along the way, occasionally making up, but they’re more like pen pals now.