Finding Harmony.

There has been a lot of news coverage recently about the new genetic screening tests that may be rolled out across the NHS. “Harmony” is one, a sample of maternal blood is taken and foetal DNA is separated from it and analysed for the 3 most common genetic defects, Trisomies 21 (Down’s Syndrome), 18 (Edwards Syndrome) and 13 (Patau).

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This new test is justifiably causing a lot of upset amongst the Down’s community, being seen as a new and improved way to assist in eradicating Down’s Syndrome from society. Eugenics, genetic selection, encouraging parent’s to abort their child as a mistake or anomaly. It is an uncomfortable, sobering subject for any parent of a child with Down’s.

I agree with this entirely and in no way endorse a targeted campaign aimed at “eradicating” Down’s, but, I do think that testing has it’s place.

At the end of the day, knowledge is power. I had prenatal testing. An ultrasound delivered a risk of 1 in 5 for Down’s, and I opted for chorionic villus sampling, when a sample of placental tissue is extracted via a needle into the abdomen and examined at a genetic level, which confirmed that my daughter did in fact have Down’s.

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Devastation was my initial reaction, but that soon turned to acceptance and determination, and I put the knowledge to good use. I told family, I told friends, I told random friendly pregnant women I got chatting to in queues and I got the knowledge out there. I researched, considered and digested as much information as I could and prepared myself and everyone else for what was ahead. There were negative reactions of course. I ignored those, combatted them with positivity.

It helped me. It really did. I find talking about things, bouncing ideas about helps me get things straight in my head, and by the time she arrived, we were as ready as we could be. There was no post birth bombshell, exhausted and emotional after delivery. No breaking the news to excited family, champing at the bit to get their hands on the delicious smelling newborn, struck dumb by the “bad news” and no coming to terms with it whilst trying to be a brand new parent. And that has to be a good thing.

So you see, I think testing is a valuable asset if used in the right context. And I can see the benefits in non invasive testing. I’m not convinced by Harmony, it’s still a screening test, anyone who’s results come back “high risk” is encouraged to have amniocentesis or CVS, and having lived through the hell of waiting for those results, the 2 week wait for Harmony results is just extending the agony. But there is definitely scope for improvement.

And I don’t begrudge women the right to termination. I could never do it myself, and each little person I hear about, who won’t live to light up someone’s life, breaks my heart a little, but it’s personal choice regardless of my opinion and I try not to judge. What is right for me isn’t necessarily right for everyone else.

Testing is a tool which can be put to good use. The problem lies with the hands in which it is placed, and this is the biggest issue. Doctors, midwives and the other health professionals involved in antenatal care, the training they receive and the way that they deal with frightened women faced with an uncertain future, have a great deal to answer for. It appears to be very rare that anyone has anything positive to say.

Ask any parent who’s child has Down’s about their experiences with medical professionals, and the answers are pretty universal. Negativity from the moment of diagnosis. Offers of immediate termination. Terrifying tales of children with no quality of life, a burden, a drain, mention of “institutions”, get rid of it and have another go. Those same parents will tell you a personal story that reads quite differently.

I understand that doctors strive for perfection, they are scientists after all, and perceived defects are to be frowned on, mended, dealt with, erased, BUT this is life. And life isn’t perfect. Who is to say what perfect actually is? To me, my daughter is the youngest of the three most perfect achievements of my life.

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If genetic testing went hand in hand with unbiased support, information, up to date fact based knowledge and counselling, Down’s might become more common, or it might disappear, who knows? But whatever happened would be through women’s well thought out and informed choices, making the right decisions for themselves, and not through a heavily weighted campaign of outdated information and negativity. And just maybe, that information and support might change peoples minds.

6 thoughts on “Finding Harmony.

  1. This is such a good balanced article and I completely with every word. We didn’t go for antenatal testing because of the associated risks but it would still have been really helpful to have the knowledge prior to giving birth. We definitely do need more knowledge and as children with Down Syndrome are educated differently now, we’re seeing it completely differently to how people of generations ago did.

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  2. Beautifully written as always; and I have to says that every picture of Lucy that crops up on my newsfeed brings a smile to my face – I can only imagine how much joy she brings to your lives. I hope that people take heart from your posts and realise the positive side of having a child like Lucy. x

    Like

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