Esmee from the UK
Esmee had her heel prick test at 5 days old and like most parents we didn’t give it a second thought. 1 week later I got ‘the’ phone call that we will never forget, and over the next 24 hours, we learnt that Esmee was the first baby in the South West of England to be diagnosed with Homocystinuria since screening began.
I would compare my initial reaction to grief. I grieved for the uncomplicated childhood that we all wish for our children, and I grieved for the family life that I thought we had lost in some way. It was really tough and I took the diagnosis very hard in those first few weeks and months. I was lucky to have an extremely positive and hands on husband who totally took it in his stride, as well as a strong family that got us through those first few months with hope and optimism. On top of that, we were fortunate to have a fantastic medical team behind us who patiently answered hundreds of my questions/emails/phone calls.
Flash forward and Esmee is a beautiful, happy, healthy & clever 3 year old who has stormed passed all of her milestones. We are fortunate that Esmee’s levels have been consistently stable (illness aside) and that we haven’t had any issue with her accepting her protein supplement - in fact she loves it. She is starting to take a real interest in her diet now and she loves telling people that she can’t eat animals! She really takes it all in her stride with confidence, and she is the happiest heathiest little girl.
All those fears that I experienced in the early months haven’t materialised, and HCU has very much just slotted into our lives - just like any routine or way of life, it’s become our normal. Esmee goes to nursery, has playdates, has sleepovers, and gets to experience all of the joys of childhood like any other child. We have been on holiday lots of times as a family, and last year we did a 3 week road trip though the Rocky Mountains and stayed in 8 different places along the way. I can honestly say that HCU never holds us back, and actually it makes us more determined to give Esmee the best childhood.
I personally found my therapy in Esmee’s food, and I spent months planning for Esmee’s weaning journey. It really helped me through the process and gave me a positive proactive focus to move forward with. I started an Instagram page, @what_esmee_eats where I share my ideas, and I try to create recipes that can feed the family with a few amendments to suit everyone. It has been amazing connecting with low protein families around the world.
If I could give one piece of advice to other parents it would be to enjoy your baby and don’t allow the diagnosis to rob you of precious moments. It took me about 9 months to come to terms with everything, and after that it was like a light switch moment where the anxiety and emotions melted away. I get my moments don’t get me wrong, but they are far and few between now – it will get much easier and you will adapt.
The best advice I got from another HCU mamma was to introduce protein supplement on the spoon at the start of the weaning process before any other food. Esmee’s ‘first food’ was her supplement which she had alongside her low protein infant formula from her bottle. We made sure that she was getting all she needed from her infant formula (bottle), so that the second stage supplement could be given as tastes on a spoon without us having to worry about measurements. I cannot recommend this approach highly enough!