the pain in the arse that comes with having a “rare” condition.


YES there is an enormous pain in the arse that comes with having a “rare” condition….NOT in a physical sense…but in EVERY other way!

with a “RARE” condition you spend years and years trying to define (in my case) invisible layers of symptoms for almost 10 tens. It is SOUL DESTROYING as you know that your GP is listening, but your symptoms are so abstract and seeming unrelated to them, and effectively not proven to be there, that they get jotted down…but with no particular signposting happening initially.

with the value of hindsight, i have been symptomatic for too many years to count. The rough timeline of symptoms in my recollection is:

  • neck and shoulder pain back when i retired had already been an issue
  • irregular heart beat.
  • numb lower right leg – not so numb to walk on but weirdly not the right sensation
  • headaches
  • heinous headaches- starting to have numb cheek, or numb scalp,
  • headaches with extreme fatigue – sleepy days where 21 out of 24 hours may be sleeping
  • my 3rd, 4th and 5th fingers on each hand feeling like i have a rubber glove on them – again in that “in between” numbness – not completely numb and not moving, but not “right” and less reliable.
  • numb foot – soul of foot.

i mean, LOOK at that list? there are no dots to join.

eventually with some of the more serious headaches with numbness in A&E, we triggered the need to do an MRI.

the MRI showed up a defect which warranted an appointment with a Neurosurgeon.

The neurosurgeon appointment took MONTHS…and when i did see him the first line of action was to “disprove” the symptoms – to send me back on a waiting list – this time to a neurologist – to see if a non-surgical condition could be blamed for the symptoms.

THAT day was horrific. I left a clinic which i went to, FACTUALLY knowing i had 2 brain malformations, having had my morale shredded completely, and been given anti-migraine medication. It took me a few months of determined cluing up to recover the stamina to see that man again and very simply get BACK to neurosurgery  list.

With a RARE CONDITION the care is “regional” so tends to have clinics based in city, which obviously due to all the rarities being referred there have mad waiting lists! That isn’t their fault it is a creaking overloaded system – badly funded and inadequately allowed for!

Anyhow… many, many years later we have a label. Arnold Chiari Malformation.

So what changes?

I have HAD my neurosurgery- more than i had planned – 2 months more!…so January and February were inpatient….and strangely great fun…as everyone there was a rare condition, so political correctness was left at the door, and there was a feeling of at least being in the right place.

once you are “set free” it should be with some sort of reference book.

  • it should be clearly marked what happens next.
  • With who does what.
  • With a list of warnings for things to recall the regional unit for
  • with a summary of what is ok and what is not ok for both you and your GP
  • with SOME idea of who to contact.

i know my GP holds umbrella care. BUT in a rare condition, how is the GP meant to be clued in? Especially if, as in my case, you are the first with your condition in the practice.

A FURTHER pain in the arse for me, is that my condition – indeed MANY of the rare conditions are “brain” issues. So your brain, YES, governs everything….from sleeping,… to nausea….to period pains…to fluid retention. So WHAT management is for the GP and where is the cut off point when you get referred beyond them?

My condition, as possibly many others do, come with such a gamut of painful and neurological symptoms and mine also with mobility and vestibular problems.

So do i need:

  1. a pain specialist?
  2. a neurologist?
  3. an ophthalmologist
  4. a ophthalmologist
  5. this list could go on and on and on….

i DID find, through another patient, that we are entitled to see our trust’s ACQUIRED brain injury Team – and through it, am now working with an Occupational Therapist, and have a wheelchair for days out and a few adjustments for everyday. There is a doctor – a neuro physiologist associated with that plan, but am not sure that he is for me? i have seen the neuro psychologist at an early level.

This unit is a community clinic – for acquired brain injuries, which applies to me, NOT due to my condition, BUT due to the fact that i had a benign growth removed, also the fact that i had meningitis, and ALSO that i had hydrocephalus…so am definitely placed appropriately. BUT i found it through another patient who i met on social network!

Yesterday was a pain in the arse DAY…

PAIN was rotten.

and i am on a cocktail of medicines that am sure are not doing my inner organs a lot of good, and one that i sense my GP is not happy that i am on, but is trusting me to make wise judgement…. but this is the type of pain in the arse…

  • who do i go to for new main cocktail?
  • NOBODY except another person with your condition knows what a DAY feels like!
  • WHO take umbrella care and makes judgments? especially while i am at home?
  • who tells me “yes, you GET worse in cold weather!”
  • information is NOT easy to find and not easily assimilated.
  • who decides that if my medicine is causing constipation we need to change it….and to what??
  • who manages the neurological symptoms – if anyone??
  • what happens next?
  • who is going to sort out my EYE issues related to vestibular problems??
  • what is an acceptable level of pain?
  • who says YES the eyes are getting worse, so you need to go to so and so??
  • do i see my neurosurgeon again?? when??
  • is there a NORMAL pattern for this condition?
  • seems am permanently unsure and blindly waiting to see what happens next…and am trying to hang on to my sanity while nothing different happens…10 months after surgery….
  • i UNDERSTAND the fear in GP…as the territory does seem unmarked from here…and there are gaps in pathways -like the one i feel i am in!
  • HOW does the information flow from all involved to all others involved??
  • this is a COMPLETE pain in the ARSE.
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4 comments

  1. Unfortunately there is no normal pattern for your condition. I wish I had answers for you. The fact that you are in the system attending that community clinic is good, use the expertise of the clinicians there. Get them to make a referral for you to a pain clinic. You have come a long way in last 10 months and although progress is slow the bad days appear to be reducing or maybe it’s that you are learning to self manage your conditions. With rare conditions you need a GP who will treat your symptoms, if she’s not doing that you need to change GP’s!

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