Life with HNPP... What is it?

If this is your first time on my blog, you have likely never heard of HNPP. So, what is it? And how does it affect me?

Who else hates totally serious blog posts? Because I know I do! But sadly this is one topic that it is hard to make loads of jokes about! (Don't worry I will test my comedic ability and still try!)

What is HNPP?

Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is a peripheral neuropathy, a disorder of the nerves. HNPP is a nerve disorder that affects the peripheral nerves,—pressure on the nerves can cause tingling sensations, numbness, pain, weakness, muscle atrophy, and even paralyzation of affected area.

English please? In basic terms, HNPP is a very rare genetic nerve disorder that is thought to affect around 1 in 20,000 to 1 in 50,000 people in the UK. Though it could be extremely under-diagnosed like many other invisible disabilities! It is caused by a deletion in one of my genes, specifically called PMP22. (Please send me a spare copy if you have one) Unfortunately there is no cure for my condition, which means I have to live with it every day with no proper way to tell when a palsy will hit me.

What is a Palsy?

In super simple terms a Palsy is a flare up of my condition. I am not a dictionary so I do not know why they call it a Palsy, but I do know that it brings pain! Palsies can affect me differently every single time, so I never know how severe it will be. They can range from my arm tingling for a few seconds, to very bad pain in my arm for weeks. The longest for me that a palsy has ever lasted was 3 months, in which the last 2 fingers on both of my hands had constant pins and needles. It was certainly horrible, but there is much much worse that could have happened!

How do you solve a Palsy?

In short terms, you can't fix it.

Having a Palsy is never a nice experience, whether it lasts for minutes or months, but they are simply a fact of life for someone with HNPP. I do take Gabapentin, an epilepsy medication, which can take the edge off the pain, but there is nothing I can do to stop a Palsy once it happens. Plus the medication I take makes me very very tired and constantly thirsty! Some people try all sorts to try and get their palsies to go away, and I do not blame them! But HNPP is genetic, which means it is just hardwired into my DNA. I will not get better, and that is something I have had to accept! (Do not worry, I am not broken... I am unique!)

Can I prevent Palsies?

Yes! This is one of the saving graces of someone with HNPP! Preventing palsies is not always possible, but throughout our lives we can find our own little lists of things that help us stay safe. Because a palsy is caused by compression in my nerves, there are a few things I am told not to do...

-Sit cross legged -Stand with my arms folded -Lean on my elbows -Lay, sit or stand in one position for too long (this makes sleep a nightmare!) -Grip onto things for too long (i.e: pens, cutlery)

-Kneeling -Playing instruments like guitar -Carrying anything by the handle, such as a suitcase or plastic bags -Using Scissors -Knitting -Wearing high heels at all -Walking for over an hour -Lifting weights -Painting -Many more things I will go into detail on another time :)

Does anything else help me prevent them?

I have special splints that go on my wrists, that I will show you at a later date! These keep my arms straight and protected, and can be worn overnight to prevent me from getting injured. I have separate splints for the day and the night, but I don't wear them much outside my house because they embarrass me! I also have insoles for my shoes, because HNPP can cause this thing called Foot Drop, which brings with it a whole load of new problems! At my age though, this is only just starting and so I am still not very knowledgeable about it. So I will have to explain that better in another post :)

I will do an entire new post about ways I can prevent and treat my Palsies! :)

Why does HNPP Happen?

The basics is... GENES!

It is not contagious, but I have a 50% chance of passing it on to my children :( But that is a post for another time! <3 HNPP is caused by the deletion of one copy of a gene called PMP22. It is sat on Chromosome 17, or at least it should have been before it decided to take a road trip! The lack of the gene in my body means my body cannot make up the protein needed to create strong Myelin Sheath. Myelin sheath is essentially a bubble wrap protection for your nerves, and whereas everyone else has super strong myelin sheath, mine breaks very easily! And once it is broken it takes ages to fix, leaving my nerves damaged and exposed for long periods of time. This is why it can be very painful, annoying and cause me temporary paralysis! :o

Because it is caused by genes, there is currently no cure, but science may change this sometime soon!

What are the symptoms?

If you are worried you might have HNPP, then please speak to your doctor! The symptoms are very vague and can be easily confused with other conditions and vice versa! I am not a doctor or professional in any way, but these are the symptoms of HNPP that I noticed... -Weakness (such as in limbs) -Extreme Fatigue -Leg/Foot/Ankle swelling -Bad grip functions -Less reflexes -Extreme periods of weakness or loss of sensation -Muscle Cramping

If these symptoms scream out to you, you could maybe have HNPP! But it isn't all bad! Get yourself checked out :) I will update you regularly about my progress and life with HNPP! :D If you have HNPP yourself, or know someone who does, do not worry! <3 Things will be okay! <3 Contact me if you ever want to chat!