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    February 29th (or rather, the last day in February) marks Rare Disease Disease Day. I, unfortunately, was born with a few rare diseases.

    I was born with:

    Optic Atrophy - this means that part of my optic nerve missing. If you shine a light in the back of my eye, (I won't allow you to do this because it's painful) you will see that my optic discs are white. If you look at the back of the eyes of persons eyes who doesn't have optic atrophy, their discs are pink. This has led to me being colourblind (I started losing my colour vision at 15) and a condition called Nystagmus. Nystagmus is where the eyes move involuntary. I am registered partially sighted because of this and am unable to drive. My problem with being colourblind is tints / shades rather than red / green or yellow / blue. There is currently no cure. As for the prognosis - this is actually unknown. Some people have virtually no problem as adults and some people go blind as adults. Most people are diagnosed around the age of 11. I was "accidentally" diagnosed just before 21 - they were checking the pressure in the back of my eyes and discovered that my discs aren't the colour they should be. I am now at the stage where things like reading large print are becoming increasing difficult.

    Arachnoid cysts - These can be found mostly in the brain; but are sometimes found in the spine. They're pockets filled with fluid. Depending on who you believe, they cause no problems at all. But a lot of us with the condition, also have a lot of serious medical conditions. One of the most common problems (and it's a serious problems I have) is migraine. And no, it's not "just a headache..." I'm just under 4 years post arachnoid cyst diagnosis and have spent almost 4 years with migraine of some description. It's taken some 3 years to find some decent pain relief. Unfortuantely for me, the only medication that works, causes a lot of side effects. I currently have hearing difficulties because of the medication I'm on.
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    (Original post by Tiger Rag)
    x
    :jumphug: I'm sorry to hear about this TR I hope you're not in too much pain right now — thanks for creating important awareness!

    I suffer from Chronic Migraine. This means I have some form of migraine for at least 15 days of every month. The effect this has on me is very frustrating. Often making me drowsy, unfocused, nauseous (usually sick), hypersensitive to touch sound and light — and various other things including almost constant neck pain (this is my aura, I know I'm getting a migraine when I begin to experience dull neck pain). I'm not sure if this qualifies as "rare" per se but it still very much sucks :sadnod:. According to the Migraine Trust, 1% of the population suffer from this condition — as of yet there is no "cure". I am now 'tolerant' ("immune") to paracetamol and cannot take it! It's very frustrating indeed :yep:
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    (Original post by iEthan)
    :jumphug: I'm sorry to hear about this TR I hope you're not in too much pain right now — thanks for creating important awareness!

    I suffer from Chronic Migraine. This means I have some form of migraine for at least 15 days of every month. The effect this has on me is very frustrating. Often making me drowsy, unfocused, nauseous (usually sick), hypersensitive to touch sound and light — and various other things including almost constant neck pain (this is my aura, I know I'm getting a migraine when I begin to experience dull neck pain). I'm not sure if this qualifies as "rare" per se but it still very much sucks :sadnod:. According to the Migraine Trust, 1% of the population suffer from this condition — as of yet there is no "cure". I am now 'tolerant' ("immune" to paracetamol and cannot take it! It's very frustrating indeed :yep:
    Thanks

    I've found that paracetamol does nothing for me too. I currently have to take 100mg Topiramate (Topamax) daily and imigram nasal spray as pain relief. Can't take beta blockers due to having asthma.

    As a teenager, I did get the aura which is actually pretty frightening! I thankfully don't get this any more. I do get the hypersensitivity to noise and light. Although, they're normal for me; just worse during a migraine. They are also both migraine triggers.
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    (Original post by Tiger Rag)
    Thanks

    I've found that paracetamol does nothing for me too. I currently have to take 100mg Topiramate (Topamax) daily and imigram nasal spray as pain relief. Can't take beta blockers due to having asthma.

    As a teenager, I did get the aura which is actually pretty frightening! I thankfully don't get this any more. I do get the hypersensitivity to noise and light. Although, they're normal for me; just worse during a migraine. They are also both migraine triggers.
    That's actually surreal that you experienced the same aura! Some people have told me their aura is loss of sight temporarily…. which would absolutely terrify me! I'm just glad it's a dull neck pain to compliment my pounding migraine versus something worse… I've tried Topamax and found that it didn't really help me out too much. Currently I use co-codomol and when the pain is incredible (only allowed to take in very bad cases), Tramadol. I can live with the hypersensitivity to noise and sound but do you experience the touch symptom? I find it unbearable to have clothes touching my skin and walking becomes a total nightmare because on top of the dull thud we all know and love(!!!) my clothes are rubbing on my skin and eugh…. it's unbearable! I can't allow anyone to touch me either, simply lying down and not moving for hours on end is the only comfortable thing to do. Very annoying!

    Thanks for your response :hugs: it was really insightful for me — sound and light also trigger mine too :yep:
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    (Original post by iEthan)
    That's actually surreal that you experienced the same aura! Some people have told me their aura is loss of sight temporarily…. which would absolutely terrify me! I'm just glad it's a dull neck pain to compliment my pounding migraine versus something worse… I've tried Topamax and found that it didn't really help me out too much. Currently I use co-codomol and when the pain is incredible (only allowed to take in very bad cases), Tramadol. I can live with the hypersensitivity to noise and sound but do you experience the touch symptom? I find it unbearable to have clothes touching my skin and walking becomes a total nightmare because on top of the dull thud we all know and love(!!!) my clothes are rubbing on my skin and eugh…. it's unbearable! I can't allow anyone to touch me either, simply lying down and not moving for hours on end is the only comfortable thing to do. Very annoying!

    Thanks for your response :hugs: it was really insightful for me — sound and light also trigger mine too :yep:
    I've not had any problems at all with touch. it's just the noise and light that cause problems for me. I had my first migraine as a teenager and I remember we were in drama messing about with lights and it was a half day. I came home and just cried because I was in so much pain.

    I was told not to take co-codamol and I can't remember why now.

    I've tried all kinds of medication. It either doesn't help or has some really unbearable (or is it unbareable?) side effect.
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    (Original post by Tiger Rag)
    I've not had any problems at all with touch. it's just the noise and light that cause problems for me. I had my first migraine as a teenager and I remember we were in drama messing about with lights and it was a half day. I came home and just cried because I was in so much pain.

    I was told not to take co-codamol and I can't remember why now.

    I've tried all kinds of medication. It either doesn't help or has some really unbearable (or is it unbareable?) side effect.
    Probably because of its narcotic properties :sadnod: — I was told to be careful with it too… but it does seem to have a little effect because of the codeine — I remember mine too! I was 6, maybe 7 and I was playing with my younger brother when I experienced this sharp pain in my head and had to go to hospital because my parents thought something really serious was going on! :eek:

    Ever since then I've experienced them frequently… Yep! That happens to me too! I keep my phone and my mac etc. on really low brightness so as to avoid it :yep:
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    (Original post by Tiger Rag)
    February 29th (or rather, the last day in February) marks Rare Disease Disease Day. I, unfortunately, was born with a few rare diseases.

    I was born with:

    Optic Atrophy - this means that part of my optic nerve missing. If you shine a light in the back of my eye, (I won't allow you to do this because it's painful) you will see that my optic discs are white. If you look at the back of the eyes of persons eyes who doesn't have optic atrophy, their discs are pink. This has led to me being colourblind (I started losing my colour vision at 15) and a condition called Nystagmus. Nystagmus is where the eyes move involuntary. I am registered partially sighted because of this and am unable to drive. My problem with being colourblind is tints / shades rather than red / green or yellow / blue. There is currently no cure. As for the prognosis - this is actually unknown. Some people have virtually no problem as adults and some people go blind as adults. Most people are diagnosed around the age of 11. I was "accidentally" diagnosed just before 21 - they were checking the pressure in the back of my eyes and discovered that my discs aren't the colour they should be. I am now at the stage where things like reading large print are becoming increasing difficult.

    Arachnoid cysts - These can be found mostly in the brain; but are sometimes found in the spine. They're pockets filled with fluid. Depending on who you believe, they cause no problems at all. But a lot of us with the condition, also have a lot of serious medical conditions. One of the most common problems (and it's a serious problems I have) is migraine. And no, it's not "just a headache..." I'm just under 4 years post arachnoid cyst diagnosis and have spent almost 4 years with migraine of some description. It's taken some 3 years to find some decent pain relief. Unfortuantely for me, the only medication that works, causes a lot of side effects. I currently have hearing difficulties because of the medication I'm on.
    Ah I remember you saying your doctors have seem to have come to the conclusion that your hypersensitive hearing is caused by your medication.

    Still not a clue what has caused mine but I'd like it gone.

    I don't really have anything rare wrong with me, but I do seem to be taking after my mum in the illnesses department. She along with many other illnesses suffers from fibromyalgia and arthritis and I have been showing symptoms of both for several years now. Particularly fibromyalgia, which I have been informed could be the cause of the unusual nerve **** ups in my body. As when I'm ill say with a cold or at UTI or food poisoning or whatever my body goes into overdrive and my skin becomes painful to touch until I'm better, it sucks.
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    (Original post by SophieSmall)
    Ah I remember you saying your doctors have seem to have come to the conclusion that your hypersensitive hearing is caused by your medication.

    Still not a clue what has caused mine but I'd like it gone.

    I don't really have anything rare wrong with me, but I do seem to be taking after my mum in the illnesses department. She along with many other illnesses suffers from fibromyalgia and arthritis and I have been showing symptoms of both for several years now. Particularly fibromyalgia, which I have been informed could be the cause of the unusual nerve **** ups in my body. As when I'm ill say with a cold or at UTI or food poisoning or whatever my body goes into overdrive and my skin becomes painful to touch until I'm better, it sucks.
    :jumphug: I'm really sorry to hear about your mum and your suffering too
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    (Original post by iEthan)
    :jumphug: I'm really sorry to hear about your mum and your suffering too
    Thanks, it's okay.
    My mum has it a lot worse than me. Thankfully my pain is minimal while hers is severe, my symptoms are mostly mental processing problems, tiredness, difficulty sleeping, headaches ect. Also very sensitive to light, but that's a different condition.
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    Ah, I forgot it was today!

    I also have a rare health condition. Ehlers-Danlos syndrome, hypermobility type (HEDS). Though, I've also been told I could have mixed type (even rarer! :eek:) due to various vascular issues (so I potentially have a mix of hypermobility type and vascular type; vascular type (VEDS) can kill you). I inherited it from my dad (most likely), but they haven't been able to pin point the gene that causes HEDS, though they do know what causes VEDS. Which ever type of the syndrome a person has it all stems from a collagen defect of some description.

    There are very few people in the UK that can properly diagnose people with EDS and in London, where I'm from, there's only one doctor who specialises in it (he runs a clinic at UCL). He's only private though!

    Main issues are very loose joints that are prone to dislocations/subluxations, stretchy skin which bruises really easily and scars easily, also, relating more to vascular issues, I'm prone to passing out, etc.

    Whilst my type(s) are among the more common for variants of EDS in general, some of the subtypes are extremely rare and occur within only one family (:eek3:). But still, EDS in general is pretty rare.

    There's also no cure for EDS, only symptom management.

    Sorry to hear about what you go through. It's not easy at all! :hugs:
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    Aww tiger, I'm really sorry you have to go through that, and I really hope they find a cure for you.

    The only 'rare' ish conditions I have is a tooth inside my gum that hasn't come out yet which has led to a delay in braces and the requirement of a dental surgery.

    I also have a patch of blonde hair on the back of my head which is weird, considering the rest of my hair is brown. It always grows back blonde, it's really weird..

    How are the advancements going for your conditions, Tiger? How close are they to a cure?
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    (Original post by KyleH123)

    How are the advancements going for your conditions, Tiger? How close are they to a cure?
    I have no idea, sadly. With the Nystagmus, they doing all kinds of trials on drugs, mostly epilepsy drugs, which incidently, are ****ing horrible. I currently take one and we've had to current change the dose because the side effects are absolutely horrible.

    I was once told they were doing some stem cell treatment for the optic atrophy. But I've heard nothing more since.

    There seems to be nothing in regards to the Arachnoid Cysts. But it's one of these conditions that no-one takes seriously at all.
 
 
 
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