How Do I Choose?

When I saw my specialist on the 20th August we had a frank conversation about my illness. In that conversation I told him that I've been informed that other individuals in my family tree have had either related tumours or other indicators that he asked me way back at the time of diagnosis to find out about. When he first asked me about this I outright asked both of my parents whether anyone had the symptoms he was interested in. Both parents said no. At the risk of sounding like Jeremy Kyle, one of them lied outright.



Just before I went to my appointment on the 20th I spoke to my parents on the phone. *She* told me that someone in the family tree has got one of the major illnesses that my specialist had asked me to find out about. I asked why she didn't tell me when I asked and she said, "you're making a big fuss over nothing". I explained, as calmly as I could, that it was my specialist who wants to know, not me. Of course that changed everything and she told me about a number of people who had the exact symptoms I asked her about in the first place.

At the appointment I told all this to my specialist, he said that this "new" information changes things significantly and he wants me to have a DNA screening to look for a mutation on Chromosome 11. This is an Autosomal Dominant condition which affects a protein called Menin. Menin is responsible for the regulation of cell division and when there is a corruption of this type it causes tumours to grow in the Endocrine system but also can cause huge levels of Calcium in the blood which in turn leads to problems such as Kidney stones.

He told me that if he'd had all this information at the beginning he'd have encouraged me to get tested straight away. The fact that my 1st cousin had a Pituitary adenoma for which she had surgical intervention would have been enough for him to do a DNA screen "just in case". With the family history now apparent he is even more convinced that all isn't well on 11q13.

The condition he's looking for is called Familial Multiple Endocrine Neoplasia Type One (fMEN1). If one parent has the mutation they have a 50/50 chance of passing that to their child. There are 1:30,000 people affected by fMEN1 and worldwide the approximate number of individuals with it is 209,107.



I have until Friday to decide whether to consent to the DNA screening. If this was going to have an immediate impact on any other person then it would be really easy for me to say yes. As it's not particularly going to affect anyone other than me I'm caught between getting it done just to know one way or the other and not getting it done because really it doesn't make much of a difference. To be honest, I know that if it came back as a positive result I'd have even more attention on me than I already do and as I already hate that I certainly don't want any more.

During this afternoon I rang the NHS Organ Donor and Blood Transfusion service to ask if a positive result would impact upon my eligibility to donate. Blood Transfusion person said I'm already ineligible to give blood because of hypothyroidism so the question isn't relevant. Organ Donor person tried her best to help but she couldn't find a single thing on her database about fMEN1 and being a donor. She said that the only thing she can suggest is that I stay on the register and if my organs ever are able to be donated the Dr's who are expert in such things will make a decision based on my full medical history.

That part about my full medical history is making me swing towards getting the test done. That way, if my organs are ever considered for transplant, the medics will have all the information they need. If it's negative then brilliant, if it's positive then they'll know what to do.


Factors making me not keen on the test are;
Money - this is an expensive test and I already get so much from the NHS I feel appalled at what I cost them.
Time - doing the screening takes a lot of time for the medics and approximately 12wks minimum for results.
Consequences - can I justify this when it's only going to change things for me and no-one else.
Statistics - 1:30,000 is so rare that I don't believe it's possible I'll test positive.


So, that's the decision I have to make. I've been pondering on it for days and I'm no closer to an answer. Read more!

Learning

I've not been writing here because I wanted to condense everything into one post. Thank you for the kind comments, just knowing someone cares is helping me to try and keep going.

I wrote before about finding out Dad isn't well. Since then a lot of things have come to light and I'm far from being surprised by that but I am feeling somewhat disappointed. Dad was diagnosed almost 18mths ago, he doesn't seem to realise this which is a blessing. He's been tried on Aricept but it was discontinued, with advice, because of the side-effects he was experiencing. Dad doesn't realise what Aricept actually is, he thinks it's for hypertension. I've bought a couple of books to try and help me understand what's going on for him, to be honest I'm floundering with this one. All I want is to help/support him as much as possible so I thought that getting a couple of books about others who have experienced loved ones having this illness would be as good a place as any to start.

Things with me seem to be sort of calming down. (jinxed it now)

Saw my specialist yesterday to discuss my latest MRI and blood tests. He feels confident that we can monitor things with regular blood work, six monthly clinics and another MRI in July 2011. Further to that he is arranging for me to have a range of other blood tests done, most of them I've had before and it's just straightforward annual monitoring (liver, full blood, fasting glucose etc) a couple are new to me, one which I can't remember the name of because it sounded complicated and the other is a DNA screen for chromosome mutation.

The DNA is specifically looking for irregularities on Chromosome 11 which results in tumours forming in the endocrine system. My tumour was/is in my Pituitary Gland and was a macroadenoma (part prolactinoma, part non-functioning) I use is and was interchangeably because surgery removed almost all of the disease but there is some rogue tissue still there. The reason my specialist is getting the DNA screening done is because he feels it may be the case that I have a disorder called Familial Multiple Endocrine Neoplasia Type 1 (fMEN1) He's basing that on my illness and the fact that a number of family members have had problems with high calcium resulting in intervention being necessary. Also because two relatives have had endocrine tumours.

It sounds a bit drastic or scary to be having this done but I really feel that this is a positive thing to be investigating. If the test comes back positive I will be able (hopefully) to be monitored for signs of other problems coming to light so they can be dealt with fast and with minimum fuss. If it comes back negative it's one less thing to stress about. Due to this I can't see any drawbacks to consenting to having the DNA test done.

So, that's where I'm at. There are other things I could write about but these are the main two right now.
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Oh Well

So, I had a little jaunt to hospital on Wednesday. I don't remember a thing about it and I've lost yesterday too. No bad thing, just a little weird. It's not like memory loss from alcohol or illicit substances. Anyway, I've got a set of results in my grubby paw so at least I know what's going on.

To be perfectly honest I don't care very much about what's wrong. More medication, another test to be done (this time under GA) and then surgery to follow. I don't have a treatment plan for the other issue yet but I'm guessing that'll be a second surgery for the same problem as before.

It's almost funny. I probably need two separate operations and I know fine well that it'll be two different appointments and admissions for those. I don't totally get why the NHS can't have some system by which the two operations are done at the same time and the investigation I need under the GA in that same slot. Surely, that'd save money, time and effort?

Got to confess, I feel more than slightly guilty about all of the resources I'm taking from the NHS. Factor in all the drugs, tests, appointments, scans and various other bits and pieces and they must be spending an absolute fortune on me. Who am I to take all of that and not give anything back? There are so many people on waiting lists and yet here I am taking up all that time and money. I'm not even allowed to donate blood because the Blood Transfusion Service keep saying no.

I get totally confused by the blood grouping system so I can't even talk about any of it. My biology isn't too crash hot when it comes to remembering letters and what they mean. Strange because I memorised the Periodic Table with ease and can still remember most of it now.

Ok, I'm starting to meander so will sign off just now.
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Please Remove The Batteries

I need to be asleep right now. Obviously I am not or I wouldn't be writing this. Tomorrow is going to be a pivotal day for me and although I'm not really all that worried about what's going to happen I suppose that it's natural to be apprehensive.

I'm not a fan of hospitals, being a patient is slightly preferable to being a visitor because at least that way I can pretend to be asleep so I get left alone. I have to go to hospital tomorrow (today) for a test to be carried out. It's my 2nd attempt to get this procedure done, the first attempt was a disaster.

I'm not scared of the test, the drugs I'll need to have, the results or even the potential treatments if things are not as they should be. No, none of that worries me. I suppose I have a slightly Kamikaze approach to life which probably stems from not really caring about what happens to me. I had major surgery a couple of years ago and I just didn't care.

The thing keeping me awake right now is other people.

Four friends said that they would see/speak to me today (yesterday) in anticipation of this investigation getting done. One came to see me, one called me up, two essentially told me to ^")£!! off. I can't be bothered with that kind of crap, if you say you'll do something then do it and if you say you're going to but have no intention of doing so then don't pretend.

There's a FaceBook group called; "Oh I'm Sorry, I Forgot. I Only Exist To You When You Need Something From Me" and that pretty much sums up 99% of the relationships that I have with people. They contact me when they want someone to listen, need to 'borrow' money, think I could offer them some sort of help/advice.....then vanish like a burst bubble when they've got what they want for the time being. Meanwhile, I am basically left with no-one.

Now, I know that sounds incredibly self-centred and 'woe is me' or even attention seeky. It is, however, a statement of fact.

Part of the problem is that I hate bothering people with my stuff, I'd far rather listen than talk. I get bored of listening to myself inside my own head so why would I inflict that on someone else? So I withdraw, shut myself away and generally try to disappear. Then I get told not to do that and I should be reaching out for support. I can't win.

Truth is, I hate being me. I've always known, from being a tiny child, that I am worth nothing. One parent validated me, loved me, cared for me. The other abused me, hated me, tortured me. I am not what one of my parents wanted. No matter what I did, how much I achieved or how hard I tried to please, it was never going to be enough.

The evening before I had my major surgery the parent in question came to my bedside (i had specifically said no visitors). I don't know how they knew where I was, which hospital, what ward I was in...they stood there at the foot of my bed and said; "I only came for myself, I never came for you. What would people think if I hadn't come to see you and you die." Just before they walked in I had got a message saying they were on their way. I was hooked up to a machine to measure my BP, Sats and stuff. It went totally crazy when I heard this parent was coming. Classic fear response, I was experiencing the whole fight/flight thing.

My other parent did as I asked and stayed at home. We talked by phone and it was very calm and loving conversation.



If you're reading this I wonder what you're thinking. You might be thinking that I'm an ungrateful brat who should appreciate what they've got. You might be wondering why one of my parents detested me so much. You probably have a belief in your mind about which parent it was who rejected and abused me. You might consider that my physical reaction to the news of the imminent arrival of a parent was extreme and that I faked it. I wish I knew what you are thinking.




So, I'll tell you the answers and let you make your own mind up.

People often say that I'm too grateful. That I thank them when it's not needed.

My parent didn't want me because I was a totally ordinary child. They were hoping that I would be born with Regular Trisomy 21. The disappointment that I was completely healthy meant that they rejected me on the spot. No attachment was ever formed. They wanted a child who would gain them special attention, praise for being so caring, lots of medical appointments and other professional involvement. Like my surgery; "I only wanted you for me, what would people think if I never looked after my child with that condition." Is what I imagine would have been thought if never said.

If you're thinking that it was Dad who rejected and abused me, you're wrong. He was both parents to me, did all the caring/bathing/reading bedtime stories/playing with me in parks/taking me on walks etc etc etc. The other one just lived in the same house as us and made our lives a miserable living hell. To the outside world she was kind and a true Christian lady. Behind closed doors she was a manipulative figure of terror. She wanted a child with Down's Syndrome so that I would be always under her control, no threat to her either intellectually or socially. She wanted the attention that parents of special children get. Then she ended up with me.

I never faked the reaction that I had to the news that she was going to be arriving at my hospital bedside. The machine had been happily measuring my vital signs for the entire afternoon and never particularly showed anything other than normal levels. It only went off on one the moment I was told she was coming. I wouldn't know how to fake that, surely you can't deliberately make a machine like that respond in a certain way?



I wish I knew what you are thinking now.
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