Having an invisible illness means that when I want to, I can hide it! But... when I want it to be seen I won't always be believed. And that is my diagnosis story in a nutshell!
Did that image get your attention?
Of course it did... a hamster on a laptop... something is obviously not right. It is like this with illness sometimes. You see something out of the ordinary, like a wheelchair or some other form of aid and immediately you think "oh, that's different, they are disabled", but then when something seems 'normal' you don't always notice it.
And that is okay! I would never ever ever expect for someone to simply know I was disabled, because they cannot see it. It is okay to assume when you see me in the street that I am not disabled because there is no way you could never have known. However, it is when someone questions you with "why are you using the disabled toilet, are you really to lazy to walk to the womens loo?" or "you do know someone who is actually disabled might need to use that" it starts to really upset you after a while. Of course I just suck it in, say to myself 'god forbid they ever get sick one day and feel what i go through' and move on with my day. But if there is one type of person you would think to be very open to invisible illness, they would be a medical professional, or at least that is what I thought...
The first symptoms
My first symptoms started to begin in Year 10 when I was about 14. In fact, I even remember the specific class it would happen in because I was so convinced it was something to do with the atmosphere in the room haha! (I now know that it was just because it was the place I wrote the most essays!)
(Beware of this awful throwback to GCSE History... it may be too soon for some of you!!) It is a Monday afternoon and I am sat at the back of Mr Mosdells History class. He tells me to answer the 50 mark question on why the Romans built the Aquaducts and I lift up my pen to begin writing. All of sudden, my hand goes numb without explanation and I sit staring at my hand wondering what on earth just happened. Then Mr Mosdell walks over, claims it is the most silly excuse he has ever heard and makes me write my essay anyway, tearing up in pain. For the next 3 days, I cannot feel anything in my last 3 fingers besides an awful pins and needles sensation.
After a couple of days I begin to get really worried. Am I dying? Did I get some infection? Maybe I have meningitis? Gangrene? What even is Gangrene? Could this be Ebola? What are the symptoms of the bubonic plague? Every question I could possibly ask myself was circulating my brain like a wildfire. This was it, I was 14 years old and according to Web MD I had 3 days to live...
I tell my mum something is not right and she gives me that look every mother gives when they know it is PE tomorrow. But I continue to make sure she knows I am deadly serious, the internet said I was a goner and I am not leaving her sight until I am listened to. (She did apologize for not believing me when I was eventually diagnosed... If I wasn't so upset at the time it would have been a brilliant told you so moment... I really missed out on that opportunity)
She reluctantly agreed to let me speak to my doctor, and booked me an appointment for the next week.
The Doctors
I can only assume that no one likes the doctors, and I am no exception. But you never expect a doctor not to listen so I went in ready to explain my problem. My Doctor tries to blame it on everything under the sun, from anxiety to growing pains, until he eventually settles on the fact I must just be lying.
Like with my mum, i refused to leave until he listened, and he too reluctantly agreed to do something about it. One month later I was booked in for a nerve conduction test...
My Nerve Test
I read up about the test 10 times online before I even walked into the hospital. I was terrified and so sure I was about to be electrocuted. But if it made everyone believe me it was worth it!
We walk in and the nurse (who was actually really kind) strapped me down to the bed. At this point I am freaking out. My head throws out every logical explanation and I begin to fear for my life. It turned out the straps are to stop my reflexes being too strong and kicking her in the face haha!
Soon the test began and her jaw dropped. My mum looked at her and all she said was "this isn't possible... she has the nerves of an 80 year old.". Had I not been out of my mind with worry, realizing Web MD may not actually be failing me this time, it would really have been a brilliant moment to turn to my mum and give her that 'told you so stare'. But before I could get comfortable my nurse had to say to me "I am sorry, your doctor has only booked you in for a 10 minute slot. He said he did not believe you and not to waste the whole hour." My Jaw dropped. My mums jaw dropped. All she could do was apologize and tell me to come back after clinic. Bearing it mind it was 10am, we then had to waste until 5pm in the town around the hospital, worrying about why I was broken! Then we went back to clinic and I was once again strapped into the machine.
The nurse was not wrong. I genuinely had the nerves of an 80 year old for some reason, but she could not tell me why. And we ended the nerve test with a million more questions than answers.
Dr Carmichael
I was immediately referred to the neurology specialist for my area, a woman called Dr Carmichael. She scared me a lot at first because I was so sure she would not believe me either. We had to travel back to the hospital to see her and she gave me a full physical examination.
She moved every limb, poked every joint, prodded reflexes I didn't even know I had. She even made me stand up for her about 20 times so she could see the way that I did things. The worst part was when she examined my feet which are very very ticklish!! She sat us down and said that she was very sure I had some sort of nerve condition. I had slow reflexes and the way I stood, walked, sat and did most things was not 'normal for someone my age'. The words 'genetic disease' stumbled out of her mouth and everything just became a bit of a blur. I was thinking too much to be paying attention to her and before long the appointment was over.
My Blood Test
After this shock discovery I was sent for an immediate blood test to get to the bottom of my condition. At this point I had only been for about 2 blood tests in my life (I have now had about 100 or more haha!) It is safe to say I was petrified.
My mum was holding my hand, and me (the 14 year old) was staring at the winnie the pooh stickers on the wall. (You better believe I was given a winnie the pooh sticker for being a brave girl... i needed it!)
The wait for my answer then began...
The Letter Arrives
One day I get home from school and my mum tells me to sit down on the sofa. She has that look on her face that she usually gives me when something super bad has happened. I was so worried someone had passed away, until I saw a letter with the hospital as the return address on the envelope.
She clearly had been upset and I begin to get worried. I read the letter and I just cry. I was scared, angry, relieved to have answers, almost every emotional all at once.
The letter told me that I had a deletion in my chromosome 17, and that I only have one copy of PMP22, the gene that codes for the protein that makes myelin sheath. This is the first time I had ever seen the words "Herditary Neuropathy with Liability to Pressure Palsies" and I was so upset. I cried for ages, and that is about all I remember from my initial diagnosis.
So I had... a doctor that didn't believe me, a nerve test that dragged out over an entire day, a meeting where I found out about genetic diseases and an awful letter. But at least I had an answer!
I am going to stop this blog post here, but look out for a Part 2 in the near future with the follow up of what happened after that letter! I do not want things to get too long as this story itself was set over a period of quite a few months already!
I hope that you enjoyed reading Part 1 of my diagnosis story and that it helps you guys get the treatment you deserve. Never ever give up! I will expand on this in part 2, but honestly push push push your doctors!
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