Patti: Recreating A Family’s History

I am a carrier of Fragile x, my sister is a Fragile X carrier, as you would assume my mother is too.

We have four affected males in our family. I have also been through two PGD IVF cycles.

My brother who is now 50 and has Fragile X, is now living independently with carers coming to help him cook meals and clean. Everything else he does himself.

He mows the lawns, makes his own bed, gets himself dressed, showered, makes his own lunch everyday and makes his own breakfast in readiness for his day, 5 days a week at the Endeavour Foundation. A bus collects him everyday and brings him home. Proof that even though people are intellectually impaired they are quite intelligent. With his carers he goes grocery shopping and he knows what he needs. He has been independent for 8 years now.

For many years my parents battled with him to get him in the car to go to our annual Christmas get togethers which was 3 hours away. Well after 49 years of #winning!… he lost, mum and dad left him with respite on Christmas day last year after 49 years everyone survived! He had a great day and so did they!

I embarked on having children, knowing I was a Fragile X carrier. I fell pregnant, I had a CVS under the care of Queensland Genetics and Dr Pritchard and I had a non-carrier female, Mia. My second child, Connor, was through PGD; at this stage I had educated my gynaecologist on what Fragile X is because he didn’t know he hadn’t heard of it. He received some information on two centres in Australia who offered PGD, one was Perth and one was Sydney. Well Sydney won.

We had two cycles, the second cycle I had four embryos in, knowing 50/50 chance of them splitting after the PGD and turning into four. I was told at the transfer, the female embryo didn’t look strong at multiplying but the male looked strong. In December 2003 I gave birth to a healthy boy.

It was a long hard road that I went into not knowing what was next. I wanted children and I realised “it is what it is” no one was coming to help me.

Based on results I feel blessed.

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Fragile X Association of Australia is a registered charity, funded by donations and fundraising. Donations of $2.00 and over are tax deductible. Your donation will help us support families affected by Fragile X, and to increase awareness of Fragile X associated conditions.

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