Local boy with rare disease continues to amaze and spread joy
With World Rare Disease Day being recognised on the 28th of February, we have spoken to local dad, James Tombling, whose son Zachary suffers from Menkes - a condition which effects around one in 250,000 children (a). Menkes causes a deterioration of the nervous system and halts physical development at the normal rate. It causes weak muscle tone and those with Menkes, like Zach, suffer commonly from seizures. Despite this, Zach never fails to bring joy to everyone he meets - his cheeky smile, resilience and absolute love of life continues to motivate his parents on a daily basis.
“Although it’s initially scary and you start questioning things you usually wouldn’t, we’ve started to realise what we’re going through is actually an experience shared in some way by many people - elderly loved ones suffering badly from dementia, family members who are suddenly struck by illness; they’re all horrible things to go through,” said James. “But we have a lot to be thankful for. Most children with Menkes don’t make it past the age of three - Zach’s four and turning five in October.
“It’s different for different families so it’s important to navigate this in a way only you feel comfortable, children are incredibly perceptive and can often sense your feelings even if you’re trying to hide them. It’s important you’re honest and open with you partner or family members who are involved, as when you start bottling things up or shutting people out, you might start hurting yourself and those you care about.
“Just because something has happened to you, you can’t let it define you. Zach is so resilient, he goes through a lot; he’s having seizures a lot at the moment and it’s difficult but we just want to help him do the things he loves. He has a wonderful relationship with his little brother, Leo, and we have another baby on the way. There’s a lot to be excited about.”
One thing Zach has always loved is swimming! Before his condition deteriorated, he would swim at Frank Wise school pool with local swim school, Water Babies Bucks and Beds. Leo, who just turned two, still swims with Water Babies and now, Tamsin Brewis, Director of the baby swim school, is organising a special lesson for Zach, so he can get back in the pool safely and relive his favourite activity with his mum and dad.
Tamsin told us, “Our focus has always been making sure our little swimmers create the best memories in the pool with their parents. In Zach’s case, he used to swim with us and we miss him dearly. But we’re committed to helping families like Zach’s, meaning we’re happy to adapt and give him a special session so he can do what he loves with his family. We know that swimming from a young age helps muscle development, visuospatial skills and even cognitive function, so it’s incredible what we can do but it’s even more important that we help Zach and other children like him,” she added.
“Zach and Leo’s relationship is pretty special. Sometimes we catch them lying down and staring into each other’s eyes - they don’t speak, but you can tell they’re communicating in some way. Most of the time it looks like they’re scheming something!” Said James. “Zach’s Menkes has altered all of our lives, but it has made us appreciate every moment we have had with him, and we will never lose those. He’s just a normal boy living an extraordinary life, we’re all so incredibly proud and grateful for the gift that he’s given us.”
To find out more about Menkes, visit: https://menkesfoundation.org.uk/, or if you’re interested in finding out more about Water Babies, visit: https://www.waterbabies.co.uk/
(a) https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/pediatrics/menkes-syndrome/