In today’s blog: HNPP, MCTD and POTS! What the hell are those I hear you ask? Exactly.
I’ve been procrastinating awfully about making this blog for three main reasons: (1) It makes me sad to think about sometimes (2) my disabilities are just part of me, knitted into the very fabric of my being, so it’s difficult to explain the differences to other people because… this is just who I am. And (3) I find disabilities very boring.
But I’m going to keep this Vaguely exciting for you!
I have two disabilities from which other symptoms and conditions come. They’re both genetic, I didn’t catch them from anywhere and I can’t pass them on to anyone through contact although sometimes I pretend I can when people are rude because that’s always faintly amusing. They are: Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Mixed Connective Tissue Disorder (MCTD).
HNPP is a disorder of the peripheral nerves- that’s the part of your nervous system outside the brain and spinal cord. It includes the cranial nerves and spinal nerves as well as their roots and branches. These nerves control the functions of sensation, movement and motor coordination.
In the most simplified terms:
Our nerves are supposed to have a coating around them called the myelin sheath, much like plastic insulation around electrical wires. I’m missing one of the two genes that creates that sheath so my myelin is very fragile and more susceptible to injury. Just the slightest pressure, stretch or repetitive movement on the nerve causes sections of the myelin to be lost leading to weakness and palsies.
Due to this, signals don’t get to my brain properly. It can take me a very long time to process anything and I have to be vigilant with my limbs, making sure they’re not too cold or have picked up an injury I didn’t notice.
Palsies (bits of me being paralysed) can last for days, weeks or even years. There is no way of knowing when they will come back or to what degree.
Mixed Connective Tissue Disorder (or ‘Disease’- doctors can switch between the two in the same sentence, oddly) is an autoimmune disease in which the body’s defence system attacks itself. It can have arthritic, cardiac, pulmonary and skin manifestations.
MCTD causes chronic joint pain, muscle inflammation, hyper-mobility, pulmonary hypertension, random fevers, digestive issues, fatigue, problems healing, joint dislocation, swelling and malaise.
Malaise is possibly the weirdest symptom you’ve ever heard of. It means ‘my body is saying something isn’t right. I don’t know what… but it isn’t right’.
As such, my immune system is terrible. If I stand next to an ill person I will get whatever they’ve got. If they sneeze near me then let’s just write off the next month. I’ll be in bed.
Around 80% of people with MCTD will have problems with their oesophagus- Personally, I find it incredibly hard to keep food down and sometimes I struggle swallowing. Dry food is my enemy and yogurt is my friend. I will eat soya yogurt with savoury food if I have to and it’s actually surprisingly delicious.
80% of people will also have problems with their lungs.
Not necessarily the same 80% as the oesophagus!
Only 10% of people have neurologic abnormalities and I’m unfortunately one of them. I have cognitive issues and I get vascular headaches- which feels like all of the muscles and blood vessels across my head are tightening and crushing my skull!
Secondarily is POTS, Postural Orthostatic Tachychardia Syndrome,
This affects the body’s autonomic nervous system- the things your body does without you having to think about it. My body thus just doesn’t regulate itself. I get hot flushes in the snow or on the beach, I start freezing on a warm summer’s day or a crisp autumn one and I randomly faint because my body has suddenly realised I’m standing.
It’s worse if I’ve done something the day before or haven’t gotten enough sleep but it can also just happen whenever for no reason.
The crossover of my disorders also affects my hearing, vision and energy levels. Very sweetly, my body is just constantly trying to heal itself.
New stuff seems to go wrong with me all the time and it’s horribly frustrating because just when I think everything is under control… suddenly it isn’t again!
But life with a disability isn’t all horrible and it doesn’t mean I have to be miserable.
The Happy Ending
If you’re reading this because you or someone you love has just been diagnosed with one of these conditions, the most important thing I can say to you is: it’s going to be okay. As a teenager I had all of these big plans about how my life would be, but then I paralysed both of my arms for a year and a half, had a medical procedure that went wrong and spent two years going in and out of hospital. It took me twice as long to do my A Levels as everyone else and it was bloody hard- I had to dictate my answers whilst lying on the floor in the dark. But I did it. I was determined to go to university and I did. I was determined to find someone who would love me regardless and I did.
It is going to seem like such an uphill struggle after your diagnosis, but this is just a part of who you are and it’s your life now. Find the fun, find what makes you happy, give yourself a break but keep achievable goals in mind and you’ll be okay.
And yes, some days all I do is vomit but I’m married, and I own a house and I have two adorable little doggies so I’m proud of how far I’ve come.