Hello to my international reader!

I have chosen to have this category » Nail Patella Syndrome» written in English, therefore more available to english spoken people that are interested in this topic. Some earlier part of this category is written in my lanuage Norwegian, but if you are special interested in some earlier parts I can translate it for you and send it to you on e-mail. This part of the «blog» or whatever I choose to call it will contain mostly of scientifically grounded material. Many doesent know much of this syndrome, 1 of 50000 inherits  it, some spontaneous, which mean that mutation in the lmx1b gene suddenly appear without a parent carrying the mutation). NPS is a autosomal dominant condition, wich means that one of the parent need to carry the mutaion in the gene in LMX1b . It is important to understand that we all have different mutation in our gene pool, therefore we are all different and it is many variables that can make different outcome.

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Here are some links for more detailed information about the syndrome :

http://www.npsuk.org

http://www.omim.org/entry/161200

http://www.nhs.uk/Conditions/nail-patella-syndrome/Pages/Introduction.aspx

https://www.ncbi.nlm.nih.gov/pubmed/15562281

A documentary about NPS on youtube:

https://l.facebook.com/l.php?u=https%3A%2F%2Fwww.youtube.com%2Fwatch%3Fv%3DGc848b4TYRY%26t%3D603s&h=ATMeTq6vDeY7n7vEhqLAayBDB5ERtdNQWAOuRY-LhLk5ZxOaDXC5dbCqRW9FxqeCb3Di9o8HysWI60YQdyr5B9w5IY-mTpYiOXGNrKztdy6GNM4iq0oJW-wksLaN9wcFBaMw0MREsBTSiyLqixT0KLYVDcM&s=1

https://rarediseases.org/rare-diseases/nail-patella-syndrome/

I will later post some pdfs ( sheets)  for you to download! 

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Do you got other interesting links ? Please post it in the commentary felt.

Here is my short story, I will write more eventually. I am Belinda, 32 years old got a bachelor degree in Information technology and entreprenurship ( vestfold university collage) . Im currently living an hour south from our capital Oslo in Norway. Im  born with hip dysplasia , both hips and it was late corrected. I took my first step when I was 3 1/2. Im somehow » a late bloomer» .Nail Patella Syndrome is a «underdeveloped kind of syndrome» , and why we all are som different is a complex question. Why do we get mutations is a interesting question, that no one can answer. The question why is not so important in my point of view.

This is how it physically affects me:  I got some underdeveloped legs, super small nut of a kneecap, hip hyper mobility,only underdeveloped nails, hand mobility,ankle failure, underdeveloped back that caused an injury, and issues with my central nervous system ( psychologically: hyperactivity and concentration issues)  and IBS I got some issues in my daily life, but with help aids my life is getting more easier. Walking for me is extremely painful, got nerve pain in legs, back,and sometimes in my arms. Some, or many have pointed out to me that I am a bit hyperactive, possible have something to do with my CNS. But I am happy and content, some struggle makes we stronger I belive. I have accepted myself being a bit different, why choose not to?

Since having my computer degree, I have started a little it-company . I work with different aspects in computer technology : teaching elderly and other groups, graphics ( photoshop), web solutions and software problems and Software. Without the human understanding of the use of IT the computer doesn’t have any value. Im interested in entrepreneurship ( Lean startup , osterwalder etc) , medicine, forensic science, science,

Im currently on disability, but works on an off ,depending how my day is. After many years witch crouching, I now use a wheelchair. But also walk a bit, though.I have an electric handicap scooter and I love being outside.  Finally I’m free again, at the same time not.

In 28 years I didn’t know about this condition, one day I googled myself. Got it confirmed by an genetic.  And I finally got an answer to why I’m different in some ways. My half brother also got the condition, my dad was the carrier of the gene. He sadly died in a accident before I was born. My dad was Finnish and my mother is from Grenada. So Im kinda of a street mix, or what is called. It is only my mum and I living here in Norway. My mother struggle psychologically . In many ways Im like my mothers mum, and some ways off course not. But Im so lucky that I live in Norway, we got one of the best health care system in the world. My mother decided to stay in Norway due to my many problems, I admires for taking that bold decision.  I am also lucky because I got the best boyfriend in the world. He accepts me like i am and helps me when Im in a struggle. An expression says that you need to be healthy to be sick, in and out of hospitals have cost me a lot,  money and time. If you are an international reader and having this syndrome, I will belive that you will understand what I’m talking about.

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What is your story? 

I hope that in the future we will get a better understanding of the syndrome, but for know many doctors knows little about it.

I will highly recommend that if you are visiting a doctor, bring a sheet with info about NPS, to better explain to your doctor about how the syndrome affects you. Remember this is a seldom syndrome, that many doesn’t understand due to it complexity.

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I will later post more , thank you for your time. And at last, Im a Norwegian and got some difficulty with some english phrases and words please respect that. 

Mvh Belinda M, Tønsberg, Norway.

Here is the Norwegian translate of the text :

oversetning-av-teksten-blogg

 

 

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