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.
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.
JJ Miller says
You know I wish you the best of luck and hope that they find somethign that works, quickly. So unfair – but you’re strong and doing everything right. Much love doll x
Vicki Higham says
Much love back 🙂 x
surly kitchen says
I’m so lucky with all of my specialist. My GI doctor specializes in Eosinophilic esophagitis, and the hospital I go to has is one of the top 5 GI depts in the USA. I’m so blessed to live in the US with the best health care available. I wish you could see my GI dr, he is amazing! i was correctly diagnosed with eosinophilic gastritis after my first endoscopy. he can’t find the cause, but he can treat the symptoms. i wish the same for you.
Vicki Higham says
I’m hoping to be going to see a Doctor in London. I think the problem is that the lower GI versions are even more rare. Is it Cincinnati you go to? I’m so glad to hear you have an amazing Doctor xx
surly kitchen says
No, my doctor is at Univ of NC, Chapel Hill. the whole GI dept is divided into specialties: crohns, colitis, etc. i’ll keep my fingers crossed for the London dr. to come through. you could look into the mayo clinic; they sometimes give “scholarships” to non-US residents and will treat you for free, or a nominal fee. they are specialists in everything there. it’s in Minnesota.
Janice Pattie says
So difficult when the condition is rare. Hang in there and keep fighting.