Hugo de Savary's – living with learning disabilities.

As a young adult, my parents mentioned that I should think about getting a genetic test as there was a higher than normal probability that I might have an abnormality with my chromosomes. At the time it didn’t seem relevant, as having children was a million miles away and being brutally honest, the potential consequences of the results terrified me. So like many young people in a stressful situation, I buried my head in the sand and got on with living in denial.

Fast Forward 15 years the inevitable has happened, my wife and I are expecting a baby – unexpected! My previous denial has caught up with me and there is obviously no choice but to take the test…

The Consultation

The day of reckoning has arrived; I’ve been referred to the genetics department at St. Michael’s Hospital, Bristol. I have a brief meeting with the consultant geneticist who’s accompanied by a counselor to discuss how deep I want to delve into what they term, Pandora’s Box. This is my Matrix moment; do I take the red pill or the blue one? I have the feeling that science has leapt light years since my parents underwent this very process 29 years previous, and I’m told that many people have chromosome abnormalities which don’t necessarily manifest themselves due to probability and I am faced with what should happen if other abnormalities than those I am aware of are discovered with me. With help from the ‘team’ we draw up a scope of investigation with the aim of ruling out the high probability risks, whilst ensuring that nothing outside this is taken into account. By now I’m not only dreading the outcome, but also the size of needle to produce the blood sample. Needles are yet another area in which my denial has manifested. The nurse takes what feels like several pints – it’s over! …but then she says she needs more – apparently a mix up with the sample containers. After the second round, I faint. After a half hour lie down and promises of mentioning discharge from a separate department should I faint in the hospital lobby, I’m permitted to leave.

The Results

I feel like a student waiting for exam results, without the ability to feel how well they have gone. Kirsten and I have spoken about the what ifs and are still very much undecided about what happens should a problem be discovered, this is made all the more difficult without all the information to hand. Finally a week after the test, the lady on the phone kindly gives me the results and it appears everything in the scope of investigation is in order.

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