Something else to deal with? The next steps

For those of you who read my blog regularly, you will be aware that I had to have a test last week to determine whether I had a duplication of chromosome 15, which my father and brother have. We are considering our choices for having a Huntington’s free baby and this new information and test was a massive curve ball.

Please see the first post here…

Our consultant at Guys advised that the results would be back in two days. After a four day wait (the NHS hey!) the results came back and they were NEGATIVE!

I can’t tell you what a relief it was for both myself and Mr Bouche. Lots of tears flowed and we had a good conversation about how we wanted to progress.

It came to light at the appointment that we had misunderstood genetic exclusion testing. This is where we will provide the hospital with our blood as do our parents and they create a genetic profile. We then try to get pregnant naturally and at 12 weeks they do a test on the foetus. We believed that the test would be for the HD gene and thus if positive, I would have the gene. We were very anti this as I do not want to be tested. However, what actually happens is they test for the baby’s genetic make up. Lets say My Dad is A, my Mum is B, Mr Bouche’s Dad is C and Mr Bouche’s Mum is D. A, B, C and D are made up of two parts (inherited from our parents, parents). So only one half of A has the HD gene (the part from My Dad’s mum).

The prenatal exclusion test will consist of the genetics team testing the cells derived from our foetus and will check the DNA to see which combination of A, B, C and D the foetus has inherited. If the foetus has B and C or B and D we are good to carry on with the pregnancy. If the foetus has A and C or A and D the baby is at risk of Huntington’s disease and we will be given the option of terminating the pregnancy.

We have made the decision that we are going ahead with a natural pregnancy and will have the exclusion testing over the PGD IVF. We have also made a decision that we will only terminate two pregnancies. If the worst happened and we terminate two pregnancies, we will enrol on the PGD IVF programme.

It has been a hard decision to make but we feel that although terminating a pregnancy would be so difficult both mentally and physically, we feel this may be better than the emotional rollercoaster of IVF.

I know some people won’t understand our choice and may even disagree with terminating a pregnancy, we are living the devastation that has been caused by this awful disease. So we feel we are justified in making such a decision as we don’t want this disease to destroy anymore lives.

Bouche x x x


7 responses

  1. Sending all my love to you both, you’re being so strong & honest about everything. If people don’t agree with you, that’s their problem and maybe they should live your lives for a while before they judge.

    I am keeping literally EVERYTHING crossed.


  2. Hello, I just want you to know that you are not alone out there. I have been going through a similar situation over the last 5 years…. My first pregnancy was lucky and I now have a healthy hd free 4 year old little girl. Since then I’ve endured 4 devastating rounds of prenatal testing along with 2 failed IVF PGD cycles. It seems like our chances aren’t 50/50 anymore. Both routes are equally devastating and stressful in different ways. Only you can decide which way is right for you at any time.

    Hang in there. You will eventually get the healthy baby you’re hoping for, and looking back afterwards, nothing else will matter.

  3. Hey just wanted to say, that I decided to get tested for HD at the age of 24. I tested positive for the inherited gene so one day I will have it.
    When it came time to plan for a pregnancy my husband and I originally decided to have the fetus tested as well.
    Once we talked about it more, we decided that we wouldn’t abort the fetus if it tested positive, so we didn’t do the test at all. Knowing there’s a 50/50 chance my daughter will one day have it as well, doesn’t scare me anymore like it once did. Because she will get a decent life span, regardless and like my husband said, she could of been born with a million things wrong with her from the get-go, HD is only going to affect her down the road.
    anyway, nice blog!

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