Genetics Counselling- Stage 1

After we saw the psychiatrist with Max a few months ago and he took a detailed history, he asked if we would like to be referred to genetics.  With every professional we’ve seen over the last year making some comment about my X chromosome we decided to be referred.  We had the appointment a couple of weeks ago with a lovely woman who drew a family tree, took a very detailed history and then explained the options available to us.  I told her about the boys births and how they weren’t textbook which appeared to make no difference really to what she was saying, although her specialty is genetics so why would it?  It seems that it IS my chromosome that has affected the kids, and may have caused miscarriage etc etc but it’s not conclusive………yet!

As a parent I feel guilty anyway, I think it’s part of being  parent anyway but now I feel really crap.  I know logically there’s nothing I could have done differently, no one had mentioned the X factor and I was told there was little risk as I was with a new partner.  But I still feel it’s my fault.  So I had a bit of a wallow for a bit, but then that doesn’t help anyone so what will help?  Well they took a blood sample off Max to run DNA and to check for 66 X chromosome abnormalities- technology has advanced, although they have discounted fragile X.  He was really good giving blood but then I was waving a Mars bar at him for when he was finished.  The geneticist also asked if we wanted to take part in the 100,000 genome study which maps as much as they can at the moment and then more as technology gets better.  It shows like cancer markers and stuff, so we will have to have a session of counselling before signing for that.  They will also compare it to Max’s for now to see if there are any blatant defects.  I’m not explaining it very well am I but there was a lot of information and I’m not remotely scientific.

I know there’s no cure or nothing I can do for my family in the immediate future and the tests may come back with a definitive “yeah, you broke your kids!” which I will have to deal with but it may help other families.  It may help my daughters make informed decisions when it comes to them having children.  So after thinking about it, we’ve decided that if they want us on the study they can have us.  I don’t really like the idea of people having my DNA, I obviously read too many books where people have been set up by the cops, but I feel I should do it.  I am not one for eradication and making perfect humans (eugenics?) but I am for education and informed decisions.  Maybe we can narrow down some diseases and syndromes and find better ways to educate and understand those affected.  I don’t think we should try to eradicate people who are different- where would the world be without those who think differently?  It would be nice though to make life easier for those who are different.

As I get older I realise I don’t know anything.  I have my core values and morals but I find I fluctuate about other stuff so much.  There’s no black or white in so much of life, it’s all shades of grey.  I find that my feelings come second to what I believe is best for my family.  I think, honestly, that if it was up to me I wouldn’t go down the family genetic route but I have to think about everyone.  I love my boys, but it’s hard and personally I wouldn’t not have them in my life (oh that’s bad writing).  If I’d known, I would have had them anyway, because there is so much good too, so much love and you get to share a different world, but it is bloody hard work- not least educating people who have no clue how to treat someone different.  If my daughters don’t want to take the chance of living this life again with their own kids then that is up to them and I fully support them.  Maybe we will get some answers, maybe we won’t but I will always try to make my children’s lives better- all four of them.  Information is never a bad thing, is it?

 

xx

 

Discharged from paediatric services.

  • We had an appointment at the hospital on Tuesday.  Now this post may be a bit random at times because I’m still trying to process it.  The consultant has discharged Oliver from the paediatric hospital service aged 5.  There’s nothing they can do for him.

Now on one hand it’s nice to have some honesty but on the other hand it’s 20 years since Max was diagnosed and there’s still nothing they can do?  I know the NHS is at breaking point, so I understand them wanting to lighten their books and get rid of cases where they can’t do anything. But it feels like we have just been basically told to get on with it.  The doctor said “yes his behaviour might be unmanageable now but it may calm down as he grows up.  We have no sleep clinic here it’s miles away and I don’t know how you go about referrals” which made me ask who does know?  Apparently family support groups can help but they are full round here and aren’t really able to help anyone else at the moment.  Social workers are overworked and we aren’t an at risk family so no chance of getting one of them.  School nurse should know more.  If anymore non-autistic behaviours arise see GP for a referral.  The problem is as I learned through Max, is that all behaviours are put down to autism once they have a diagnosis.

I feel quite alone now and that it’s down to me doing the speech therapy work- we have a great ST, he sees her once a month and she has given me her phone numbers so I can check I’m on the right track.  School aren’t doing his IEP’s, he actually got sent home with homework last Friday and asking around it was the same as everyone else’s- Finding Nouns.  So you can guess how well that went down.  I know he’s my child and my responsibility, but surely school should be doing their part as they agreed to take him and the extra funding he came with.

I wonder if deep down I was expecting more from the professionals, if I was expecting science had moved on in 20 years.  I suppose it has in a way because the doctor made sure to point out to me that it was probably something from my genes that made him this way.  It’s always nice to hear that.  We have our first appointment at genetic counselling next month so we’ll see what they say.  I think overall I feel abandoned.  It’s down to me and the ST to reach him and make him fulfil his potential- whatever that may be.  I am not trying to make him conform, like school is, I’m trying to find a way into his world and share mine and maybe meet somewhere in the middle.  I’m trying to find a way to ease his frustration and make him happy.  I’m trying to stop the violence and tantrums and tears.  I’m trying to get people to realise he’s just as important as everyone else and has a voice and rights.  I’m trying to make him know he’s loved, no matter what he does.  I’m not worried he will fail- he can’t, I’m worried I’ll fail him.

He’s different- not less.

 

xx