Wednesday, 1 September 2010

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.

No comments:

Post a Comment