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Thursday, 28 February 2019

Today is a special day, which is why I am bringing you one EXTRA blog post this week! Today is Rare Disease Day 2019, and living with a rare condition myself I thought that this was be an great opportunity to talk about my Rare Disease.

So, I have Nail Patella Syndrome. "What is that?" I hear you ask. Don't worry, you're not alone in that as literally no one has even heard of it. Not even most of the doctors I have come into contact with, which is fab... To be quite honest with you all - I'm not even sure I know what it is most of the time, despite having lived with it for my entire life.

Nail Patella Syndrome (NPS) is a genetic condition which is caused by a fault in the LMX1B gene (whatever that is.) What is even more rare, the fault in the gene can occur even if there is no previous family history of the condition. So, if you have a parent with NPS then there is a 50/50 chance that they can pass it down to any offspring they have. The diagnosis of NPS can be made at birth, especially it is made aware that it runs in the family already. There are some treatment options that they can do to prevent the faulty gene being passed down in your blood line (something that I will be doing), which I will talk about in another post.

Quite frankly, the name "Nail Patella Syndrome" is quite misleading as it can affect so many parts of the body, as well as nails and knees. NPS is a condition which causes problems with the nails, bones and kidneys. However, everyone with NPS can experience it in different ways. I will delve into my symptoms of Nail Patella Syndrome in a future post as I may be here all day otherwise.

Unfortunately there is no cure for Nail Patella Syndrome, but there are several treatment options available to help manage the symptoms you may experience with the condition. Yearly urine tests are required with NPS to check the health of the kidneys, and blood pressure will be monitored too. Glaucoma tests and dental exams should be done regularly also to keep them in check.

So that is a brief overview of what Nail Patella Syndrome actually is. Like I said at the beginning of the post, if you haven't head of it before then you really aren't alone in that! I hope this post has been somewhat educational - Let me know if you have any further questions in the comments.

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