One of the wonderful things about this blog and the Chiari forum is that I get to meet some amazing people.

Kelly is just one of those such people. We often get all wrapped up in our own little worlds and think that it couldn't possibly get more complicated.

Well it can. There is a lot of talk about Chiari being possible a hereditary disorder, there isn't much evidence either for or against as not enough research has been carried out due to the number of patients currently affected and being able to research each individual and the fact that the condition can be asymptomatic.

well, stories like this keep cropping up. Maybe there is some truth in it?

Kelly, Thank you for letting me share this on the blog.

MY LIFE WITH CHIARI MALFORMATION

My name is Kelly and I am 30 years old. I was diagnosed with the Chiari I Malformation in the Autumn of 2008.

For a few years I had experienced headaches, nosebleeds, 'black outs' and a whole host of other problems but each time I went to the doctors I was advised it was 'nothing'. At one appointment my GP advised that my headaches were due to my tying my hair up in a ponytail too tightly! Several appointments later he was getting fed up of seeing me and advised that I was depressed and had underlying mental issues that needed addressing… erm "no"!

My husband suggested a holiday to calm us both and give us some peace for a couple of weeks. Not a bad idea I thought, I was wrong. For starters the flight was excruciating, the pressure in my head was intolerable, I even asked a flight assistant if there was the possibility of landing but as we were going to Menorca (a 2.5hr flight) and we'd been in the air over an hour it was quicker to land as per the flight plan than turn back. I spent the last part of the flight crying over the airplane toilet as blood poured down my nose and my head felt ready to explode. When we finally landed I was bedridden for a good 2 days, it was 30 degree sunshine and I didn’t want to miss it so I forced myself to 'get on with it'. I pulled round and began to enjoy my holiday. My husband has been teaching me how to swim so he suggested, one very hot day, that we spent some time in the pool for me to learn how to swim under the water, ideal to learn so we could go snorkelling. However, each time I tried to stay under the water the pressure on my head felt immense, this worried me and my husband so much… at this point we thought I might have a brain tumour!!! The rest of our holiday was subdued and I was constantly worrying about the flight home, we even tried to arrange sailing home but to no avail. My worries were confirmed as the flight home was identical to leaving; the pressure, headaches and nosebleeds.

As soon as we got home I booked in to see my GP again, this time my husband came with me and we didn’t take no as an answer. My husband demanded an MRI scan and I was booked in 6 weeks later. However between seeing my GP and getting my results I had another drop attack (one of many) but this time I happened to be at the top of my house stairs and fell right to the bottom, some 13ft! Needless to say I ended up in hospital bruised and battered with a banging headache!

When I finally got my results back 8 weeks after the MRI scan I was advised to go to my GP, I did and guess what, he couldn’t read them, no surprises there he isn’t a neurologist. He also didn’t apologise for saying I had depression. He did, however, pick up on the diagnosis of Chiari Malformation. He couldn’t tell me what it is or what it meant for me so he referred me back to the Neurologist, in another 8 weeks time (by this time 5 and a half months have passed since my holiday). In between getting my results from the GP and seeing my neurologist I started researching Chiari and found so many people with the same symptoms as me, it was a comfort of sorts to finally have a diagnosis that didn’t involve me being depressed.

While I was waiting to see my NHS neurologist my manger work reminded me that I have private medical insurance through work, I got in contact with BUPA and the rest is a blur, it all happened so quickly. I was referred to a brilliant NS called Mr Ross at Nuffield in Leeds and my condition was explained. The day I saw Mr Ross I had the hardest decision of my life to make. Do I undergo what appeared to me as a "life-threatening" surgery or deal with the terrible agony of the headaches with the possibility of my conditioning worsening? After careful consultations and discussions with my surgeon and family, I decided to undergo the operation.

On the morning of Feb 24th 2009 I arrived at Nuffield hospital, Leeds, and went directly to my room to be prepared for what was a long road ahead of me. The nurse entered the room and began to run IV lines as my husband, mum and brother stood by my side holding my hand and taking my mind off what was ahead. Before I knew it, the nurse said it was time to go to pre-op where they would give me some medicine to make me drowsy. The doctor allowed my husband to come into the pre-op room where we shared a few moments together as we both cried. The nurse gave me some medicine and I quickly got very groggy. Then it was time, time to say goodbye to my husband, my best friend. The last thing I remember from there is being wheeled away and lying face down on that table in that extremely cold and scary room.

5½ hours later I woke up in the High Dependency room. I remember not being able to lift my head because it felt heavy and I was very stiff. I also remember getting sick because of the morphine they gave me. All I wanted was to see my family. I remember talking with the nurse and laughing because she said I had the biggest family she has ever seen...there were 15 people in the surgical waiting room just for me. Finally the time came I recovered enough to see my family and 4 days later I was discharged to come home and only had the road of recovery ahead of me. Today, now 1 year later, the headaches and pain have subsided, I'm undergoing physiotherapy to help with my posture and recovery but I am now experiencing life as it should be.

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My mums side of the family have always joked about the 'family bump', referring to the large bump at the back of our heads, what we didn’t realise was the impact this family trait has. Also it's not a bump it’s the deformity in the base of the skull. Through my diagnosis and my subsequent research we have learned that Chiari CAN be hereditary.

My mum's story is longer and more complicated than mine, so I won't go into it all but a very condensed version is; she has been treated for 15 years for varying forms of vertigo and high blood pressure, none of the medicines have ever worked. When I was diagnosed I passed a list of symptoms to her and she ticked off most of them as traits she's got. I pushed her to go back to the GP but like me she'd lost faith that anything would be done. Eventually she gave in and went to the GP, explained my story and asked for an MRI ("just to be on the safe side"). Amazingly her GP agreed and she was referred to the same NS as I had been. The rest is history… the MRI diagnosed Chiari and on the 15th December 2009 my mum underwent decompression surgery, she's only 7 weeks post surgery but doing fantastically. And her headaches and drop attacks are a thing of the past.

My brother has some symptoms but isn’t too bad at the moment and my uncle has been treated for a form of epilepsy for over 10 years with no relief in symptoms. My brother and uncle are now under review, waiting to see Mr Ross and hopefully will be diagnosed and decompressed.

Early detection is the key; awareness of recent advances made in the diagnosis of CMI is paramount in preventing permanent neurological damage to the patient. As CMI remains undetected in the patient, syrinx is more likely to develop. Many doctors consider syrinx the single most dangerous condition associated with CMI and recommend immediate surgery to resolve it - even if the patient is asymptomatic. Unfortunately, the damage that syrinx inflicts upon the spinal cord is irreversible. Early detection can prevent most, if not all, spinal cord damage in patients with CMI. This, again, stresses the importance of early diagnosis and treatment of minimal CMI.

Would I have the surgery again? In a heart beat, it's not easy, the recovery is long and at some points seems never ending but the quality of life, hell just the life you get to have is worth a few months of hell. When you've been living with Chiari all your life what's a few more months?