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Daniella’s rare genetic condition didn’t stop her from having a baby

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Daniella, 33, from Reading was born with Apert Syndrome, a rare genetic condition, that affects the fusing of bones. It can cause the skull bones to close prematurely and the bones in the hands and feet to bind. Daniella shares how she hasn’t let her condition stop her, and thanks to IVF with PGD, is enjoying being a mum:


“As a family group worker at a children’s centre in Reading, I spend my days helping mums to have fun with their little ones and learn through play.


“I’ve always believed that one day I will also be a mum. But although my Apert Syndrome developed by chance, as a gene changed before I was born, my children would have a fifty percent chance of inheriting the gene from me.


“As I approached 30, I started researching if there is any way I can have a baby whilst ensuring I don’t pass on my condition. I saw my GP who referred me onto the John Radcliffe Hospital in Oxford. There my consultant recommended I undergo IVF, as although I don’t have any fertility problems, during this treatment, thanks to pre-implantation genetic diagnosis (PGD), embryos can be tested for a genetic condition, ensuring only embryos free of it are used.


“Taking this approach, I could either freeze my eggs now and wait until a later date to go through IVF to fertilise and test them, or I could move ahead with IVF now, using donor sperm. After considering both options, I decided to move ahead as a single woman.


“In the UK the HFEA approves which conditions can be tested for with PGD. Despite there being around 600 inherited conditions on their list, Apert Syndrome didn’t appear. But my consultant was fantastic and worked tirelessly with the HFEA, to ensure my condition was allowed. This took months and months to achieve, but I was over the moon when, two and a half years after first seeing my GP, I finally received my letter saying that I could proceed with my treatment at Oxford Fertility.


“Once at Oxford Fertility, everything moved at a much faster pace. I saw one of the clinic’s specialist counsellors, to make sure I had thought through all the implications of IVF, especially using donor sperm. Then one of the donor team talked me through my sperm donor options. There were so many, from a raft of international sperm banks, to the clinic’s own sperm bank from local donors. I decided to use the clinic’s bank and based my choice on the donor’s characteristics.


“As I have a heart condition, I was also referred to a heart specialist, as the team wanted to make sure my body would be safe when pregnant, for both me and my baby.


“I was then ready to start treatment. I was given a pack of medicines personalised to me, which was well organised and ran like clockwork. My injections all seemed to go OK and I didn’t have any of the emotional side effects I’d heard about. I produced lots of eggs, that fertilised well. These were genetically tested, identifying two precious embryos that were Apert free. I was overjoyed. One was transferred into my womb and the other frozen, which felt like good insurance.


“The clinic was such a lovely, pleasant environment, including the treatment room. I even arranged for acupuncture just before and after my egg collection and embryo transfer appointments in its alternative therapy service.


“The hardest part for me by far was the two-week wait after my embryo transfer. In-fact I couldn’t wait, and took a cheap test from my local supermarket two days early and couldn’t believe it when a line appeared – it was a miracle, I was pregnant!


“Luka safely arrived this July and is just amazing. He is such a chilled little baby, he only gets a little grumbly when he is hungry. I just can’t believe he is here.


“I am so glad I didn’t put my eggs on ice and wait. This is the right time for me. Had I not, I wouldn’t have my baby now. I’ll never regret it.


“No one know what the future holds, I felt at ease the whole way through, especially with the support of my friends, family and Oxford Fertility. It’s the best thing I’ve ever done.”

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