I recently noticed some changes in the nailbed of my right index finger. So I went online and found more information on Nail-Patella Syndrome, the genetic disorder I was diagnosed with as a child.
The doctor at that time (I was five or six, 1962-3) called it "Fong's Disease." A doctor when I was 21 (1978) called it "Patella Syndrome." Most sources refer to it as Nail-Patella Syndrome, or NPS. I've never before seen much information on it.
The current number for distribution is 1 in 50,000, so it's not particularly rare, though I've never met anyone else with it. Carriers have a 50% chance of passing it on to children. About 20% of us have spontaneous mutation in gene LMX1B. Neither of my parents had the syndrome, and had no memory of relatives showing symptoms, but they might not have known what to look for. None of my six siblings show signs, nor any of their children, so I tend to believe I'm in the spontaneous or "sporadic" group.
Some families have carried the mutation for generations and just saw the symptoms as family traits.
Symptoms vary widely in the affected population. My presentation has been very mild, with only the very odd thumbnails, thin flat index fingernails, and square knees, with somewhat thin calves. I have spurs on my pelvic bone called "iliac horns." There were some kidney problems as a small child. I've never experienced any disability, though I've never considered marathon running. Or wearing miniskirts. Kneebends are not my favorite exercise.
But it looks like that index fingernail is going the way of my thumbnails, and some of my toenails are showing some slight changes, too. All cosmetic, and nothing to worry about. I never planned to be a hand or foot model. But I mistakenly thought this was a "one-off" deal with all the damage done by time of birth. Not so.
There are real problems that can come up. Glaucoma turns up in a lot of us, and renal disease can be a problem, to the point of needing dialysis or kidney transplant. Arthritis might become a problem. These things I didn't know until last night, and will require more attention in the future.
I even found a woman's homepage with a forum to discuss NPS. And some people have serious things to discuss, as in lack of extension in their arms, displaced hips, clubbed feet, missing or malformed ligaments and tendons. Many had extensive corrective surgery or bracing as babies and children to correct twisted limbs. Many have had various knee and elbow surgeries, and a few have had kidney transplants at relatively young ages.
So now you know what I know. I didn't know there were so many of us or how debilitating it could be.
What about that Internet?