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World Rare Disease Day: Banbury dad shares his family’s story
28/02/2022
Four-year-old Zachary Tombling suffers from Menkes syndrome
Today is World Rare Disease Day and a Banbury dad has chosen to talk about the rare condition that affects his son in an effort to raise awareness of the condition.
Four-year-old Zachary Tombling suffers from Menkes syndrome – a disorder that affects copper levels in the body that results in a child not gaining weight, weak muscle tone and seizures. The symptoms develop from infancy and children often do not live past the age of three.
Zach was diagnosed at the age of 9 months. It is a condition that affects around one in 250,000 children.
James Tombling is Zach’s father. He said: “The condition itself is horrible because it’s a terminal condition so its like living with a death sentence.
“Buts its all the stuff it causes. He has seizures, he’s got very low muscle tone so he’s unable to sit, walk and talk. He’s not able to communicate and he’s fed via a peg [percutaneous endoscopic gastrostomy].
“He’s fully reliant on others to do everything for him.”
The family recently discovered that Zach now has what is effectively unrelenting epileptic activity in his brain.
During the pandemic home support for the family was difficult, although they are now going through a process with the community nursing team to get additional help.
Respite care is provided by Helen and Douglas House Hospice in Oxford and Zach often attends with relatives so he gets to spend time with them.
Despite everything Zach has to deal with he still manages to bring joy to everyone he meets, with his cheeky smile, resilience and absolute love of life.
James said: “He has some very upset moments and moments of real distress. But in between that he is very happy and takes everything in his stride.
“He’s a very happy, bubbly boy when he’s stable. It’s a pleasure to be his dad.”
James and wife Steph have another son, Leo, and are expecting a daughter soon. Even at the young age of two Leo is learning how to help care for his older brother, who he adores.
James has this advice for others who may find themselves in a similar position: “You have to go day by day and look for the small things that are positive and the little bits of happiness you can find.
“Our lives have been turned upside down – our kid has been given a death sentence and no one wants that.
“You wonder why’s it happened to my child, why can’t it be me.
“When I look at him and see everything he’s struggling to go through and he’s still able to crack out a smile and laugh at my very poor attempts at humour, it just gives you a bit of strength that its not as bad and there is some light there.
“You just have to hold on to the beautiful moments as long as you can”.
You can listen to our interview with James here.
Published: by Banbury FM Newsteam