Rare diseases: we are not even a drop in the ocean

You hear of rare diseases, but you don’t hear about rare diseases.

Unless you suffer from a rare disease, you hear the name, the words – a long string of Latin in italics and then garble, garble, garble: k-shhhhhh white noise.

There is a rare disease out there that affects about two and a half people per million. If it were saltwater, it is even less than a drop in the ocean. But sufferers are not a drop in the ocean…

I am one of those 2.5 per million people. In Australia, with a population of almost 26 million, that means there are probably, at this point in time, only about 64 other people in the country who have this condition. When I was first diagnosed 18 years ago, it was believed that I was one of four on the east coast.

To say Pityriasis rubra pilaris (PRP) is a journey is an understatement. It’s more like a boot camp. It’s more like a boot camp during wartime, and that war is on your own body.

The itch that started it

My ‘journey’ started with a little bit of an itch in my fingers. Then they started to peel. I had just begun a new job at a newspaper and thought that maybe I was having an allergic reaction to all the ink – (another rare condition).

Two weeks later the itch was becoming awkward, to say the least, and my face started to peel as if I had been skiing. I went to a doctor in Mullumbimby – he had no idea. He invited four other doctors who were working on the day in to have a look at me. None of them had seen it before and they threw a lot of possibilities into the diagnosis ring. Some of those diagnoses were really scary.

The doctor took a skin biopsy and the result came back inconclusive. Within a month I was at a very expensive dermatologist at John Flynn Hospital in Tugun. I’d been in the door less than five minutes before he diagnosed me with Pityriasis rubra pilaris. He said not to be too hard on my GP and that it wasn’t surprising that other doctors didn’t have a clue. He said most GPs won’t see this condition in their entire career. He had only seen a small handful of cases himself.

He basically said there was nothing I could do about it. Hopefully, it would go away in a year or so. He said ‘go home and rub moisturiser into your skin’.

I thought, that’s okay, I can live with that – a little bit of a red face and a skin peel for a few months – no problemo! Until, over the next few weeks, my life descended into hell. My existence became unbearable and I am not going to pretend that I didn’t contemplate ending it on more than one occasion.

What is it?

What is PRP? It’s a lot of things but basically, most humans lose a layer of skin every month. You don’t even notice it. With PRP you lose a layer of skin every three days or so – yes ten layers a month. Unfortunately it’s not a nice romantic loss – it doesn’t slough off like a snakeskin that you could make into a handbag. It comes off like peeling after sunburn or snowburn, it comes off in chunks and flakes and the skin thickens in many places to compensate for the loss.

It got to the point where I would go to work, drag myself through my days, and come home to sit in the bath for hours and cry. My children are STILL traumatised.

I was lucky. I know it doesn’t sound like luck, but I was diagnosed within six weeks of the first symptoms and the acute phase passed in about nine months tops. For some people, this ‘journey’ lasts for years. Some people are not even diagnosed for years and put up with this torturous condition to the point of suicide before they can get some emotional relief at least, and realise they are not going crazy. Physical relief is different for every person and for some people it never comes – it can be as rare as the illness itself.

So, I did what the dermatologist said. I went home and I rubbed moisturiser into my skin, and I rubbed moisturiser into my skin, and I rubbed moisturiser into my skin…

This just went on hour after hour every day.

There is something in this world worse than pain

The biggest lesson I learned from my experience is that there is only one thing in this world worse than pain: itch.

I learned that if I scratched myself until I was in pain, then the itch stopped momentarily as they both travel along the same neural pathways. It was much better for me to be in pain than to be itchy.

The skin on my fingers and my feet thickened and I was unable to open cans and hold tools. One of the symptoms is a thing called ectropion – my lower eyelids turned out and I constantly had red, watery and sore eyes.

I had no control over my temperature so I swung from hot flushes to cold shivers.

My body’s response was to try to replace the skin that I was constantly losing. I craved massive amounts of protein, and as we all know, we never eat exactly what we’re supposed to and between a lack of exercise and replacing the dermal layers, I put on a lot of weight as well.

All of this doesn’t even touch on the effects this had on my self-esteem. I constantly had a red face (I mostly still do). My face was peeling. My arms and legs were peeling. My body was covered in sore red lumps and  I was  growing very round and very unfit.

And I itched and itched and itched.

Chemotherapy wasn’t the answer

There was always the terrible itch. It cannot be described. At the time I went to the dermatologist he suggested that methotrexate was one of the main options to treat this illness (there are a wider variety of drugs recommended these days), but I decided that as he’d said it would only last less than a year, I didn’t want my body to have to suffer under the weight of a chemotherapy drug as well as what I was going through. I didn’t think it was worth putting that load on my body for something that was going to go away.

I’m not saying my treatment of PRP was the best way, but I have to say I am one of the very lucky ones who after no treatment at all, apart from topical creams and moisturisers, managed to shake off the acute symptoms after nine months. It was luck – it’s a lottery.

That was 18 years ago. I still have a few symptoms. Occasionally I get raised lumps on my arms and I constantly have a few on my legs and it can get a little bit itchy. Occasionally I get sore dry eyes and I still get splinter blisters under my fingernails – but that interminable need to scratch has stopped. Mind you, I have to say that I am super sensitive to anything that makes me itch now – even a hair on my back or my arm can send me into a scratching frenzy.

If there’s no money to be made from it, no one cares

This brings me to the other problem with rare diseases: No one wants to research a rare condition because there are too few cases for anyone to make any money out of a possible treatment. Methotrexate surely isn’t the best thing for this. That shit can kill you!

PRP-specific research projects in recent years can be counted on one hand, so we get good at asking Dr Google and joining online support groups. We learn from each other.

I try to go to the PRP Facebook pages on a fairly regular basis but I have to say, it’s very triggering for me. Alhough I feel terribly sad for the people there, especially the newly diagnosed, it’s not always easy for me to speak. I’m often overwhelmed with emotion and fear and sadness – sadness for the people who suffer and sadness for those there who are looking after a loved one with the condition, particularly those who are looking after children and babies.

PRP Awareness Month

It’s PRP Awareness Month. Why do I want you to be aware? So the next time, if ever, even if it’s only once, someone says to you, “I have Pityriasis rubra pilaris” you don’t look at them like they have an STD and walk off into your white noise. Instead, you can look them straight in the eye and say, ‘I have heard about that. I have heard it’s awful and I know you are not alone’.

I’m hoping people can become aware of PRP. I’m hoping people can become aware of all rare diseases. When you hear the words ‘rare disease’, don’t switch off. Don’t be seduced by white noise.

You are not alone

For those of you who have a rare disease, all I have to offer you is my love and support. For those of you that have PRP, the only thing I can say to you is, hopefully, this too shall pass (my mantra for the whole nine months, and beyond), and pass quickly – it did for me. I have been in remission for a long time. I am not a unicorn, it does happen.

But the most important message is: you are not alone. It feels like it. It feels like it a lot. The people who love and care for you don’t know what you’re going through and how it feels, but remember they are trying hard to help you, and really, would you wish it upon them just so they understand? I don’t think so.

Hang in there.

Join the PRP Alliance and find other people like you. The world won’t know about us if we don’t tell them.

There are not many of us, but we are not drops in the ocean, we are more than drops in the ocean – we are particles in a rainbow and we need to be seen.

If you want to know about PRP, this is a good page to explore.

If you have recently been diagnosed with PRP and you have turned to Dr Google, and this story is one of the very few search results, here is a wonderful resource, and over here is a terrific, welcoming, generous and caring Facebook group.

Don’t do this alone.