Today is Rare Disease Awareness Day so I thought it was time for me to answer a few questions about being diagnosed with a rare disease, if you have any more, please feel free to ask in the comments and I promise I’ll get back to you.
Why did it take so long for them to figure it out?
Most people eventually diagnosed with a rare disease have been through countless consultants (I’ve seen 11). It has taken 4 years and lots of misdiagnoses before I got to this point. Normally Doctors are fitting people in to boxes A, B and C. Rare diseases aren’t even on their spectrum at the beginning, after all, they’re rare, what are the chances this patient will have it? It has to happen to someone though.
You have to be a proactive patient if you’re in this situation. Chances are the Doctor will only see one case in his lifetime, so hours sunk in to medical papers about it aren’t going to benefit his career. His time is better spent learning about the patients that present in his clinic everyday – I get that. You need to do your own research.
If someone hasn’t heard of the disease, I think it’s kind of cool that I can teach them something by the end of the conversation and that has to be a good thing.
If they know what is wrong, why haven’t they fixed you yet? Most of the time if you’re diagnosed with an illness, Doctors will be armed with an infantry of drugs, procedures and treatments to combat it. You might have only heard of the first on the list but the others are there, waiting as a back up incase things don’t really work out. Of the 7000 rare diseases, only 2% of them have approved treatment. So what do they do? What tends to happen is Doctors will try things experimentally but prescribing drugs for ‘off-label’ use comes with it’s risks, there’s a reason it isn’t a “recommended treatment” and if you’re unlucky you might find out why.
Surely someone is working on a cure?
Drugs companies make a fortune from creating treatments for common illnesses but when it comes to researching a rare disease, it just isn’t a good investment for them. Research for rare disease relies on charitable donations, special grants and accidental findings. If they have managed to secure funding and produce a drug that might work, and made it through to a drugs trial, they need to find enough people to try it out and there just isn’t enough of us. If they pull all this off, they will be lucky to break even.
Today marks the 30th anniversary of the Orphan Drug Act. An act put in place to reduce the impact that money has on finding treatments for rare disease. There’s now firm procedures in place in the UK that make sure your local medical services make the decision. It goes a bit like this:
I go in armed with research and present my idea to the Consultant. I need to convince him that the risks of taking an orphan drug are worth the potential benefit – he’ll be dealing with the fall out if they make me worse. Once he is on side, my case has to be presented to my Primary Care Trust for them to way up the cost benefit. Orphan Drugs are ridiculously expensive, and it will come out of their budget. Just to show you how expensive, one particular orphan drug is £230,000 a year for a 60kg adult. That’s a lot of money for something that might have absolutely no impact.
It hit lunch time today and I had a massive craving for a good bag of crisps. I opened the cupboard to a grim scene; no crisps, not even a cracker. What’s a girl to do?
If you know me well enough you know I’ll have a go at anything. So today it was time try my hand at making crisps. I don’t have the energy to mess around with frying things, I need things to be quick and simple, so armed with two small Albert Bartlett Rooster potatoes, here is how I did it:
Thinly slice your lovely reds (or whites if you fancy) on a mandolin – if you don’t have one, your cheese grater might have a slice function.
Blot the starchy liquid off between sheets of kitchen paper and spread around the outside of a microwavable plate.
Ping for 4mins, turn and repeat until just slightly golden. You’ll need to keep an eye on them, mine take 6mins at 750w.
Transfer to a cooling rack to really crisp up.
Now it’s time to season. I kept things simple with just salt and pepper and boy were they good! My cute little crisp packet is just made from folded up baking paper – perfect to shake them around in.
You’re done, probably under 10mins. They haven’t seen a drop of fat or any sneaky flavourings but you’d never know that these weren’t “the real deal”.
If you’re counting calories, or just looking to rustle up a quick snack, I dare you not to love these.
This year Mother’s Day falls on the 10th of March in the UK. It’s one of those occasions that everyone seems to forget about until it is right under their feet and a panic of children stampede the shops. Don’t be one of them!
Your gift doesn’t have to be expensive, most Mums would rather just spend a bit of time with you than see you spend your money. Both mine and Matt’s put up a protest whenever we try to treat them but tough I say, they deserve a little something to say thank you for everything they do for us.
So here are some Mother’s Day treats to suit a variety of budgets (between £7 and £40). My favourite pick has to be the National Trust’s Beachwood and Bramble candle. I love the design and it’s nice to buy something that helps to protect our countries favourite places.
I thought I’d join in with the tag and share some random facts:
When I was little, I used to read Encyclopaedias cover to cover. I’m sure some of you are cringing for me but I’m glad I took such an interest in learning, I think it really helped me out at school.
I’ve always been a keen singer. I’ve had the privilege to perform with the English Touring Opera and for a Royal Opera House tea dance at Covent Garden.
I totally love Bruce Springsteen & The E Street Band – I’ve got tickets to see him in July and I can’t wait! He’d be on my “must see” before they die list along with the Rolling Stones.
I seem to know some really peculiar things, that came in handy for my job of writing pub quizzes when I was 18.
I love a good conspiracy theory. My Sister will tell you tales of 11 year old me constructing a pretty good argument that Tupac was still alive.
I spent a lot of Summers in France when I was growing up. My Great-Aunt lived over there and we’d go most years to visit and do some travelling. To me it was the perfect childhood holiday and they’re memories I will cherish. If we weren’t lounging around in hammocks in her orchard we were visiting Châteaus. She’d teach us to paint and take us on dusk walks to feed the farmer’s donkey sugar cubes. I looked forward to sitting in the sun and digging in to a big bowl of Moules-frites and wine tasting in the caves at the side of a sparkling river. Ahh…
I play piano, guitar and bass- since my hearing loss started I’ve become pretty out of practise, I had a bit of a paddy and sold my bass but I’m hoping to treat myself and get back in to it.
I’m pretty laid back. Probably my best and worst quality rolled in to one.
My music taste is pretty diverse. I grew up in a house where there was always music playing so I love some of the oldies and I seem to use songs to catalogue my life. If I think back to a memory I almost always link it to what we were listening to at the time or the latest CD I’d bought.
I used to really enjoy pushing my body to it’s limits (oh the irony) I’ve done the Keswick to Barrow (42miles) a couple of times. One year I did the entire walk then completed a full bar shift! Now that’s dedication.
I actually enjoy doing laundry just don’t ask me to do the ironing!
I used to run long distance for my County when I was at secondary school.
I’ve had a tremor for my entire life. It used to embarrass me when people noticed it but it doesn’t bother me now. No one knows what causes it.
When I’m trying to get to sleep, instead of “counting sheep” I redecorate each room in the house in my head. I find it so relaxing!
My digestive disease has only ever been diagnosed 300 times in the entire world!
I was a bit of a maths geek at school and sat my GCSE and AS level a year early.
I’m a little too in love with the colour grey. I’d paint every room in a shade of grey if I could. I’m surprised my blog isn’t that colour.
3 years ago this Easter I hopped on a plane to Australia on my own. I’d booked it 2weeks before. Sometimes I’m pretty spur of the moment.
I’m a savoury girl. I’d take a pack of crisps over a chocolate bar any day of the week.
I really want to go to Morocco. I’m absolutely in love with the idea of Marrakech and it’s wonders.
I’ve always loved PC games, mainly point and click or sim strategy games. Dungeon Keeper and Theme Hospital are two of my favourite oldies.
I once had a poem published in a book when I was about 11.
I love sour and fizzy sweets. The more they make you screw your face up the better!
Everyone I know well calls me Victoria or Vix – they never call me Vicki.
My feet are always really cold but I can’t ever tell.
The week the film Wimbledon came out with Kirsten Dunst, 8 people told me that she reminded them of me – I can’t see it at all!
Until last year, I’d never lived anywhere other than the first house my Dad built for us 23years ago.
I started my own business, won an Enterprise and Vision award for it and then sold it on a year later.
I used to be a Brownie Leader. My name was “Little Owl”
If you’ve read this far you’ll notice I tend to over use exclamation marks. I just want you to know I’m saying things enthusiastically!
Spring has been peeking around the corner this week and with it comes my need for tuna pasta salad.
I always find I eat better as the weather warms up, I want more fresh vegetables and this pretty much ticks my lunch time boxes. It’s the perfect thing to pack up for work, easy on the budget and doesn’t need to be heated up. I like to make a big batch of this at the start of the week, that way there’s something in the fridge that I can easily grab that’s healthy and doesn’t need any effort.
Using my fitness pal, this comes in at 262 calories per serving (47g carbs, 1g fat, 17g protein), plenty of room for dessert I’d say.
Enough for 4 lunches:
250g cooked cooled pasta
185g tin of tuna, drained
8 cherry tomatoes, cut in to eighths
1 grated carrot
3 spring onions, diced
1 table spoon of lighter than light mayo
1/4 tsp English mustard
There aren’t any directions really, just mix it all together.
It’s one of those “what’s in the fridge” recipes but I like to add peppers, celery, avocado, butter beans- whatever we’ve got in. Let me know if you try it!