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Rare disease day
Former Member
Posts: 1,875,648 The Mix Honorary Guru
Today is Rare Disease Day. A rare disease is classified as a condition that affects less than 1 in 1,000 (or less than 1%) of the population.
I am in the unlucky situation of having 2 (possibly 3) rare diseases. One of which, it took me 4 years before I even found one person in the UK (and that was by accident!) with the same condition as myself.
People are welcome to, if they wish, to ask me any questions they want about the conditions I have. In short:
- I have optic atrophy. You have an optic nerve that goes between your brain and eye. Those of us with optic atrophy have some of the nerve missing / the nerve has died. We are colour blind, have vision worse than normal and sometimes have other eye conditions. Because there's no visible symptoms (my eyes look like everyone elses eyes - the damange is behind the eye) and no actual test for the condition, I was diagnosed purely by accident. For many, it's genetic and that's how they end up with the diagnosis. Or it's because of illness or accident later in life and they end up with the diagnosis that way.
- I have arachnoid cysts on my brain. My brain didnt develop the way it should have done and there's sacs filled with spinal fluid (you are meant to have spinal fluid; but I have it where you shouldn't have it) in my brain. Depending on who you talk to, there are no symptoms to this condition at all. I've had a huge battle with the doctors over the last few years to get some decent pain relief and for someone to actually listen to me. Unfortunately, at least one GP has admitted that she believes I'm imagining all the pain I'm in. I currently have to take daily medication called Topamax, which is also given to people with certain forms of epilepsy. It's well known as Dopamax because it makes many of rather dopey and causes some issues with concentration. Medication such as paracetamol, aspirin and ibuprofen don't touch the pain one bit.
I am in the unlucky situation of having 2 (possibly 3) rare diseases. One of which, it took me 4 years before I even found one person in the UK (and that was by accident!) with the same condition as myself.
People are welcome to, if they wish, to ask me any questions they want about the conditions I have. In short:
- I have optic atrophy. You have an optic nerve that goes between your brain and eye. Those of us with optic atrophy have some of the nerve missing / the nerve has died. We are colour blind, have vision worse than normal and sometimes have other eye conditions. Because there's no visible symptoms (my eyes look like everyone elses eyes - the damange is behind the eye) and no actual test for the condition, I was diagnosed purely by accident. For many, it's genetic and that's how they end up with the diagnosis. Or it's because of illness or accident later in life and they end up with the diagnosis that way.
- I have arachnoid cysts on my brain. My brain didnt develop the way it should have done and there's sacs filled with spinal fluid (you are meant to have spinal fluid; but I have it where you shouldn't have it) in my brain. Depending on who you talk to, there are no symptoms to this condition at all. I've had a huge battle with the doctors over the last few years to get some decent pain relief and for someone to actually listen to me. Unfortunately, at least one GP has admitted that she believes I'm imagining all the pain I'm in. I currently have to take daily medication called Topamax, which is also given to people with certain forms of epilepsy. It's well known as Dopamax because it makes many of rather dopey and causes some issues with concentration. Medication such as paracetamol, aspirin and ibuprofen don't touch the pain one bit.
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My parents are convinced that the 2 conditions are related. It's not that unusual for someone with an eye condition to have a neurological condition on top. Only one member of the family (one of mum's half sisters) has an eye condition. Hers is completely different and is genetic.
Both conditions are currently incureable and most of the time, I do end up having to try and educate the medical profession. Frustrating!