At 5 months old Tom was given the diagnosis of DiGeorge syndrome (also known as VCFS or 22q11.2 deletion syndrome).

This is the second most common genetic condition after Down’s syndrome but we had never even heard of it.

A missing piece of Tom’s 22nd chromosome means that Tom’s heart, immune system, palate, muscle tone, calcium levels and development are just a few of the ways in which he is affected. In fact there are over 180 characteristics of this syndrome and no two individuals are affected in the same way.

The diagnosis for us as parents was devastating and life became a constant round of medical appointments and specialists. The feelings of desperation and isolation were overwhelming.

We were advised to get in touch with the Max Appeal charity through the immunology clinic Tom attends. Along with the abundance of information and advice that Max Appeal gave us there was a great sense of relief that we were not alone in coping with Tom’s diagnosis.

Max Appeal, among other things, runs numerous events, provides support to families and individuals, supports research to expand knowledge of the condition and makes it possible for families to get together and talk informally.

Our lovely friend and neighbour, Graham Allen, is cycling from Lands End to John O’Groats in June 2014 to raise money for Max Appeal, in support of Tom.

Today, Tom is a happy, mischievous 4 year old. Medical appointments are still a big part of his life and although his future development and health needs are still an emerging picture we feel blessed to have Tom in our lives.