I have mentioned on and off on this blog that I'm disabled. I've never really felt the need to fully explain what my disabilities actually are until now.

I have Nail Patella Syndrome (NPS), a rare and genetic condition which causes problems with kidneys, bones, nails and more. It is said that 1 in 50,000 people have this condition. It has 50/50 chance of being passed down to your future children and there is no indication how severe it will be affected by this condition. (For example, out of my 3 siblings, only 2 of them have NPS however I am the one who has the most issues as theirs is non-existent - this doesn't mean they won't develop anything later on in life.) You can read more about it here: http://www.nhs.uk/conditions/nail-patella-syndrome/Pages/Introduction.aspx

So how does it effect me personally? The main problem I have is to do with my knees not being formed properly. As you can see in the picture, my knees look a bit odd compared to what people's knees usually look like. This is due to lack my kneecap in one leg and a bit of one in the other. For me this means that I'm not able to bend my legs alot and they are almost locked into one position. This causes problems in my hips as I have to walk from them rather than my knees (stairs are a killer). I have been under the hospital since birth and have regular checks, but it is said by my doctor that this problem with my knees is a mutation of the NPS and he has not come across anyone else who have heard of this problem within NPS. (My doctor has flown across the world giving seminars about my legs - apparently I am a medical marvel... L O L.)

My legs have definitely got a lot better with age. They are at the point now where I feel like I do not need them to be operated on anymore as I feel that this is as best as they're going to get. I have a little bit of movement and my muscles are getting stronger which is definitely a positive. I've had several operations which have tried to stretch the muscles through the use of an ilzarov frame (i.e the holes in my legs.) I was in a wheelchair for the most part of my childhood, whereas now I don't need to use one for my legs (I do however, need to use one for my fibromyalgia which will be a different post.)

My wrists have not formed properly either which means that I am not able to turn my hands over. This doesn't really cause much issue in my day to day life, taking change from cashiers usually results in me dropping it all though...

There is no cure for NPS, just managing it through painkillers and regular checkups. Due to advances in technology, tests are able to show early on whether or not your baby will have NPS. When we are ready for children, we have decided that we're going to go through with a procedure called pre-implantation genetic diagnosis which is similar to IVF however they will only implant eggs which show that they are not effected by NPS.

So that is my disability! Thank you for taking the time to read this post, I feel relieved that this information is out there now.

1 comment

  1. This is strange. I didn't know about this disease or disorder before. I read your whole post and came to know about this disease. Thank you for sharing this information with us.