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My Personal NPS Story
My Nail-Patella Syndrome was inherited from my mother ... through her father (my grandfather). By comparing notes with other NPSers, we have recently been able to trace the NPS in my family through the EDDY name back at least as far as 1608! Of my grandfather's 6 siblings that lived to adulthood, 4 of them had NPS. My grandfather had 3 children and 2 have it, including my mother. She had 5 children, and 3 of us have it. I have 3 children, and only one of them has it....of course, it has to be my only daughter ...but she's lucky, hers is very mild....mostly just the thumbnails one slightly "bent" elbow....everything else appears normal although her knees are "cranky" and achy when she overdoes it with sports or dance, etc. I also have one niece and one nephew with it. As you can see, it is very dominant in my family, but the severity of it seems to vary significantly from person to person.
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Of all those in my family that have NPS, I seem to have the most severe symptoms. I have a minuscule concave sliver of nail on the outside corner of my thumbs that tends to flip up and get caught on everything, so I keep it cut short! My forefinger nailbed is very small and round, with a split and concave half nail ... the rest of my nails are normal. Most of the others in my family have fairly normal forefinger nails, but the nails on their other 3 fingers are "warped" and weak...Mine are normal. My knees are "square", with large radial heads and very small kneecaps (less than 1" in diameter) that are on the outside of my knee instead of being centered in the front. My elbows straighten out and are normal, although most of my family members with NPS have the "bent" elbows...some have only one elbow slightly affected (like my daughter and my 2 sisters) but others like my mother and my grandfather have/had both arms bent at a much more severe angle. My hips are also affected. They are quite narrow and the pelvic bones have the iliac "horns" or "spurs" that showed up when I had pelvic x-rays during one of my pregnancies. I also have scoliosis (side to side curvature) and lordosis (swayback). My scoliosis isn't too severe, but is getting worse with age. One of my sister's is quite severe, to the point where her internal organs are being compressed to the point that if it goes any further, she will need surgery. When I was born, I had talipes (club feet) and my legs were all twisted up in each other, with one tucked up behind my head. Needless to say, my poor mother had a very long and painful delivery (not a C-section)! At the time, they told my mother that it was because I was her first child and she was small...I didn't have any room to stretch out. I spent the first 5 years of my life in and out of plaster casts, but came out of it pretty functional ... just left me with one deformed foot that is 2 sizes larger than the other. This condition was never associated with the syndrome at the time of my birth because no one else in my family had ever had it, but now we realize that it is related to my NPS.
Luckily, no one in my family has ever had any of the related kidney problems, except that both my mother and I had toxemia of pregnancy and pre-eclampsia (kidney related pregnancy complications). Those kidney conditions are only temporary, and they go away after the delivery of the babies. I have found in my research that this, condition is not uncommon with NPS, so it might also be related.
Many of us, including my mother, myself, one sister and my daughter, also have glaucoma or abnormally high pressure in our eyes...and we now know that glaucoma is also related to NPS.
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