Being Punished for doing the ‘right’ thing

Those of you that have been reading my blog for a while will know I have a terminally ill father who is in the latter stages of Huntington’s Disease.

You may not have heard of Huntington’s, but it is a neurodegenerative genetic disorder that affects muscle co-ordination and leads to cognitive decline and dementia. My daddy is 55, he has no motor skills, cannot eat by himself, cannot stand, cannot wash himself, cannot speak although I can communicate to a certain degree with Daddy. I am a Daddy’s girl.

His diagnosis, when i was 13 rocked my world and eventually destroyed my family. My Dad inherited the Huntington’s gene from my Nanny. She was diagnosed a little after my Dad. My Dad was 37 at diagnosis and Nanny was 58. We know that Nanny inherited the disease from her mother, who was institutionised in the early 70’s (they didn’t know what Huntington’s was in those days). Nanny’s aunty Violet also had Huntington’s but was not diagnosed until she was 87 and she passed at age 92. It is probably important to mention that she was pretty well until this time and had a wonderful life. My Nanny passed in 2007 aged 71 after a pretty eventful life.

My dad is 55. He is confined to his chair, wheelchair or bed. He cannot use the toilet, he cannot tell me about his week, he cannot eat solid food but is so handsome and has a smile to light any room. He loves me. He loves my husband. I know this, because when we went to tell Daddy that we were getting married, Daddy cried. He held out his hand and held Mr Bouche’s hand so tightly. He looked at Mr Bouche deeply and looked at me and smiled. That was his blessing!

So here we are, almost 10 months after our wedding. Where Daddy booed when I came down the stairs and booed all the way through the ceremony, and we made a decision a month ago. We want to have a family and give Little J a brother or sister.

We made a decision, even before we got married, that we would do all we could to have baby that was Huntington’s free. I have not been tested. I am not showing any symptoms and I am very much a believer in living for now. I could be tested and they could tell me that I don’t have the gene, or that I have the gene and sometime in my lifetime, I would get Huntington’s. I am 31, I could be like Great Auntie Violet and not get it until I am 87. I don’t want to live my life, like a waiting game until I get Huntington’s.

So how do we have a baby that is Huntington’s free?

We could have prenantal testing. Where we would concieve naturally then our unborn child would be tested for the gene at 11 weeks. If the result was positive then we would have to make a decision whether to carry on with the pregnancy, plus I would know that I was carrying the gene. Terminating a pregnancy and giving myself  a life sentance are both options I am not keen on.

We had discussed the options, even before we got engaged and got married. There have been advances in genetic medicine and we always said if we could use an IVF technique to ensure we would have a HD free baby we would. Earlier this year, I read some articles and did some research. We learnt of an IVF procedure where they could screen my eggs for the gene, discard the ‘bad’ gene and go ahead with IVF with the good eggs. It is important to add that, We would not know if there were any HD effected eggs at all. I did some research into IVF and the success rates, and it seemed our chances would be in the region of 50 -70%.

On thursday, we went to Guys hospital to see a geneologist and a genetics counsellor. We discussed what we wanted and the family history (which they knew) and during the meeting it was decided that Preimplantation Genetic Diagnosis (PGD) IVF would be the best option. It was explained that my ovaries would be stimulated and that in itself could kill me. After further information was provided, I asked what the criteria for funding was. This type of IVF is £8000 a time! We were told that our age and the fact we were married was a plus, but Mr Bouche being a father to little J was a negative. We did explain that Little J had Aspergers and this was seen as plus. I also asked what the success rate of PGD IVF was and was told it was 20%. We were advised that we would be referred to the PGD team and should have an appointment in the next couple of months. We finished our consultation and got the train home. Thursday evening passed in a blur, there was so much information to take in.

Friday morning I woke up and showered. The information had hit me and I broke down. I sat in the bath, with the water from the shower beating down on me. All I could think of was 20% success rate and the posibility that we would not get funding. The baby, which I wasn’t sure I wanted right now, was all I wanted. I never realised how much I wanted a HD free baby and the reality was that it was going to be very hard.

It has been a hard couple of days. Mr Bouche has been amazing and has reassured me that we will do whatever it takes to do this. All we want is a baby free of this awful disease. We believe that the single most important thing you can do as a human, being wishing to be a parent is to give a baby the best start.

Why is it so hard to do the right thing and bring a person into the world free of gene that could destroy their world?

To be continued…

Bouche x x x

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3 responses

  1. Having only just met you, I didn’t know this about you and your family. How terribly sad for you all. All I can say really Jo is that I admire you for being so brave about the whole situation … especially when you broke down in tears, that is a show of strength, as weird as it sounds. I don’t know what I’d do in your situation, can’t profess to understand the first thing that you’re going through but I can only wish you and Mr Bouche the best of luck with whatever choices you make.

    Big Medway love on its way! x

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