A Parent’s Perspective: Simone

How did you find out about Zanes diagnosis? Zane was born 4 weeks early as I had pre eclampsia. Being born so early he was only 6 pound  and showing signs of being born early. Lots of sleeping and ended up being tube fed the first few days due to being unable to suck. We were in hospital for 11days and on the day we were released was the day the hospital called and advised we need to head back to the hospital as Zane needed treatment. At this point we were not too alarmed as it sounded as if he needed an injection or meds and all would be good again. We went to the hospital and were advised of the condition and given a pamphlet. We were advised we had to go to RCH the next morning and they would provide us the treatment. We arrived at the hospital a bundle of nerves and at the time terrified of seizures (as per the pamphlet we got) 3 months earlier I had lost my 3 year old sister to epilepsy and she often had seizures. We were scared there could have been a link. We soon realised as we walked through the hospital that our situation was certainly a lucky one compared those of the kids we saw. Our minds and hearts eased once hearing the treatment and we soon felt relief. Knowing this was manageable put us at ease. I remember the dr saying “you are both really calm. Normally this is pretty hard for people to hear.” I think personally I was trying to wrap my head around it and understand. But we also felt ourself lucky it wasn’t something much worse that would mean our son didn’t get to come home from hospital. 

What are the challenges you have faced from the point of diagnosis to now? So many, trying to understand what is normal behaviour and what might be PKU related (First child). Trying to find the way that worked for our son in regards to how we wanted to treat his PKU. We decided on the you are different and that’s ok policy. He would have different meals to us and we adopted a strict you don’t eat what your given your hungry until your ready to eat it. This was also adopted with formula. We took the stress away of worrying “he didn’t have 3 today like he was meant to” and worked on the behaviour we wanted from him in regards to eating and drinking. He is currently drinking all formulas/tablets without issues and is not fussy with food. Zane was also a toddler who seemed to be unable to “think about it” (in his words he “couldn’t even think about it”) when faced with having to concentrate or come up with answers to some things or even just patience to attemp something new he really struggled. He would head butt the floor no matter the surface. We had to try and find ways to help him to self regulate. We later found out at the age of 6 he has ADHD and a processing issue. Which is tricky learning at school. We are currently looking into Autism and PDA. All of which are extremely difficult to attempt to manage and not get into arguments or frustration battles when managing PKU.

What’s your daily routine like? (Formula, medication, food) Zane has Ritalin and microtabs in the morning with an air 20 supplement. Snacks on fruit usually the. Has a sandwich for lunch and another air 20 around 2.30pm. After school he will have some more fruit or maybe some granola bars, pretzels or veggie chips. Dinner is currently slim pickings with it being either veggie burgers, free pasta or pizza. I have been lazy cooking food! He will also have chips most weeks multiple times. I am excited to have a copy of Sasha’s cookbook and have been cooking a few of the recipes. Zanes loving it! 

How did you educate your family & friends? And did you face any difficulties explaining PKU? Educating is hard because just like everything until you’re going through no one truly understands. They think they do but they just don’t. No matter how it’s explained I find people still often dismissive. Like it’s not a big deal. For friends and family it was a conversation about the importance of the little things. Trying to have them understand the importance of what foods have proteins in and that just because one day he had something it doesn’t mean you can. have it again that day. 

Any advice for others? Fussy eaters – from as soon as they are aware they can decide to eat or not eat this is where although you will be exhausted and not wanting to, it’s where your will power and strength needs to kick in. If they refuse the food you’re providing DO NOT FUSS. You getting worked up either provides them with entertainment and fun because mummy makes funny faces I’ll do that again or you associate that behaviour with frustration/anger and then it’s no longer a safe space. Keep it calm and know they won’t starve themselves. Eventually they will eat what you’re providing. And the more this happens the fewer the tantrums/refusal occurs. At least this has worked with Zane super well. We would have stand offs and there was no way I was giving in. He didn’t realise how stubborn I was haha.