Hi, I’m Gemma and here’s my perspective on receiving our daughter Amelie’s PKU diagnosis.
I’d had an enjoyable and fairly normal pregnancy with Amelie. She is our first, so we were filled with both excitement and worry at the same time! I was 2 weeks overdue when I was admitted to hospital to be induced – Amelie definitely developed a character from the womb, she does things when she’s good and ready! She had a pretty dramatic entrance to the world, having to be rushed to have an emergency caesarean, when her heart rate plummeted however Amelie arrived safe and sound thanks to the wonderful staff at our maternity unit.
I remember just staring at her; she had the biggest blue eyes and chubby cheeks! We spent some time in recovery and we were soon taken up to the ward, where we spent 3 days before being discharged. We were glad to be home, where the usual stuff followed figuring out what to do with this little human!
"We were glad to be home, where the usual stuff followed figuring out what to do with this little human!"
After a few days, we went to the local clinic to have the heel prick test. Her dad and I were both feeling nervous, but it got us out of the house, which felt like an achievement in those early days! To be honest neither of us paid much attention as the nurse listed the conditions they were testing for, although ‘Maple Syrup Urine Disease’ did stick in my mind because of its unusual name. We were told to expect the results in the post in a few weeks’ time, but it was sooner for us…
"We were told to expect the results in the post in a few weeks’ time, but it was sooner for us…"
On the day we received the news, we’d been to have some photos taken of Amelie and we’d just got back. I’ll always remember that knock at the door. We weren’t expecting anyone and certainly not a nurse. She asked to come in and began explaining that there was a positive result from the heel prick test. She explained the condition and took another blood sample. It was all a bit of a blur from there…. I just remember crying – a lot. I couldn’t get my head around it and couldn’t understand why we were now being told our baby had this condition. Had I done something wrong during pregnancy? Was it something to do with what I’d eaten? None of this, of course, had anything to do with it.
We were told that we needed to go to the hospital the following day to have the diagnosis confirmed. We had convinced ourselves that the first test was wrong, and this nightmare would go away but the consultant confirmed that the second test was also positive. I held Amelie so tightly. I kept thinking ‘why her?’, ‘why us?’. I tried to be practical and ask questions, but I just remember crying and wanting it all to go away. I’ll always remember how amazing the consultant and the dietitian were. It felt like they scooped us up and no matter how awful it felt to receive the diagnosis, they were going to make it ok. We had a plan and that made me feel a little more in control of the situation and able to do something for Amelie, having felt so helpless so far.
"I’ll always remember how amazing the consultant and the dietitian were. It felt like they scooped us up and no matter how awful it felt to receive the diagnosis, they were going to make it ok."
I was told I needed to stop breastfeeding immediately and express milk, while Amelie was given the special formula milk to bring her phenylalanine (phe) levels down. I was reassured that as soon as Amelie’s levels had reduced, we could start to reintroduce breastmilk as part of her natural protein allowance. I vividly recall that experience; panicking as I hadn’t brought anything to express with and wondering whether I’d be able to breastfeed again.
The days after the diagnosis were a bit of a blur. We had a lot of visitors and I remember holding Amelie and not wanting to let her go. I focussed on all the things she would miss out on, experiences we wouldn’t be able to enjoy and that we were responsible for all of this. However, I’ll always remember the advice our dietitian gave us – that it was ok to feel sorry for ourselves and for Amelie for a bit, but that we should always focus on the positives and what she would be able to do.
"I’ll always remember the advice our dietitian gave us – that it was ok to feel sorry for ourselves and for Amelie for a bit, but that we should always focus on the positives and what she would be able to do."
The time of the diagnosis is still an upsetting memory and there are occasions when we allow the negativity to creep in, but we think of all the things she will be able to do and remember our dietitians’ advice. I am biased but Amelie is such a bright, funny and happy little girl who will be able to achieve everything she wants to in life and won’t be held back by the condition…She enjoys everything a girl her age would – colouring, playing with puzzles and toys, role play with her dolls and kitchen, going to the park, bouncing on the trampoline, dressing up, singing and dancing!
Amelie also enjoys going to nursery; playing and learning with her friends. Over the years the nursery staff have really got to grips with the condition. They make such an effort to ensure she eats similar foods to the other children and that she takes part in food related activities. Communication and organisation have been key for us. Our next big milestone is school…she’s due to start in September and we’re feeling a little nervous as she just seems too little at the minute! I’m confident though that she’ll love it as much as nursery and I think once we and the dietitian have spent some time with the school to prepare them, the condition will just become part of school life.
It’s said that an average of one in ten thousand babies are born with the rare genetic condition, phenylketonuria (PKU). That’s the equivalent of just nine people in a full capacity Wembley crowd. Yet, despite extreme rarity, and against huge odds, my newly wedded wife, Nichola, and I - both diagnosed at birth - recently celebrated an ‘all PKU’ marriage. Now, with our big day existing only in our memories, these are our tips for organising a PKU wedding:
