Nail Patella Syndrome (NPS)

 

As I said in my Bio I was born with NPS which is a genetic abnormality, god do I hate that classification. Always sounds like the person having it is abnormal, well nothing I can do against it. Anyways, there are several “mutations” caused by NPS. The most prominent would be the Nails.

IMG_20150306_134242_edit-300x300As you can see here, the nails are kind of split, barely existent and a pain to cut. The degree of deformity varies from finger to    finger, as well as from person to person. It does not hurt but can be painful when growing up especially when you’re a girl and a teen. It’s even harder when you can’t really explain why your fingers look like this, most of the time you get accused of chewing them off. I just would like to see someone who can chew them of like this and not eat half his finger in the process.

Another symptom are the deformed kneecaps (Patella). They are often shaped irregularly, wavy like. To small and in some cases not existent at all. In my case, they are too small and weirdly shaped. That leads to days where the kneecap kind of pops of and moves loosely around, sometimes a muscle or sinew gets trapped under it and that hurts like hell. At other times, you might bend down to pick up something and can’t get up again, because the kneecap moved and locks you in place. Most annoying thing ever and embarrassing when you need someone who picks you up.

imagesThe deformity of the elbow is such that you can’t stretch it fully. As always the degree varies, some have trouble with both elbows other with only one. Same with the degree of how far you can stretch it, the range varies just as much. There are operations that can improve it, but as far as I heard, they are not always as successful as the patient hopes. In some cases, they gained degrees in stretching it but lost some in the other direction.  Again, this deformity does not hurt, but can be a fixation point for bullying throughout school. Implications in life are there as well, lifting heavy objects can hurt, and you can’t reach things high up where others with the same high can because they can stretch their arms. It can be a great annoyance.

Then another usually existing deformity is the iliac bones. On it’s own it is known as iliac horn disease. The bones are shaped as if they have horns; my husband says I have a pointy ass when I sit on his lap. That is basically what it is, the bones are more pointy and sometimes so much that sitting on a hard surface can be painful after a while.

Those are the usual deformities caused by NPS but there is much more to it than just the visible deformities.

In a high amount of NPS Patients Kidney disease are common, in some cases it can cause kidney failure. Anyone who is born with NPS should get a yearly check up on the kidneys, just to be saver.

Another thing is the open angle glaucoma, an eye disease that can cause blindness. There are treatments for it, but as with the kidneys regular checks help catch it in time.

Then there are those symptoms that are connected but nobody really knows why or how.

There have been many recorded instances where the NPS afflicted person has Dyslexia, ADHD, irritable bowel syndrome, and thin tooth enamel. There are also associations with muscle problems, fatigue and Fibromyalgia.

As you can see NPS is a far-reaching anomaly, causing trouble in different ways. One of the biggest problems is that it is considered rare, and because it’s not deadly it is less interesting for researchers. There is only one born with NPS every 50 000 births, which I personally don’t consider rare, but who am I to determine that.

 

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