Something else to deal with?

The past month has raced by and before we knew it, we were fast approaching our appointment with the PGD team at Guys hospital. Last Friday, I received a message from our genetic counsellor asking us to come in earlier so they could go through some history and dot some i’s and cross some t’s.
I can’t pretend this didn’t make me nervous and over the weekend, I tried to keep it to the back of my mind.

I woke yesterday full of nerves and apprehension. Mr Bouche and I made our way to Guys hospital and were met by the genetic counsellor and taken into a room. She explained that the PGD specialist had looked into my family history.

My brother had been diagnosed with a duplication on chromosome 15 a few years ago. At the time, because I was well the doctors believed I was unaffected. However, with advances in genetic medicine it now seems you can be a carrier and not be affected by any symptoms.

So what does this mean for me? My brother inherited the chromosome duplication from Dad and thus I have a 50/50 chance of inheriting it. So I had to have a blood test to determine whether I have. My brother is fairly well but as he has inherited it from his father the symptoms are mild.
However, as a woman, if I was to pass the chromosome defect on to my children the effects are a whole different ball game.

So if didn’t have to worry about passing huntington’s on, I now have to worry about chromosome 15 duplication. This defect can cause birth defects, growth problems, seizures, cleft palate, communication delay and mental retardation.
Thankfully, they have taken my blood and I will have a result back later this week. I would be lying if I said this new information hadn’t put me on another leg of the emotional roller coaster but I have to wait for these results patiently. I also have to stay away from google! The temptation to research is there but I must resist until I know whether we have this to deal with.

To be continued ….

Bouche x x x


2 responses

  1. Pingback: Something else to deal with? The next steps « Bouche in the City

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