It’s likely you’ll have never heard of 22q11 deletion syndrome – a rare genetic condition that affects up to 60,000 people in the UK alone. Simply put, it’s a result of a small piece that’s missing from chromosome 22, and means that those affected can suffer from a wide range of conditions. Ultimately, it will depend on the individual how the syndrome presents itself – but it is common for sufferers to have a cleft palette or a structural heart condition.
Children with 22q11 deletion syndrome also often have problems with hormones and growth, muscles, hearing, the spine, and suffer from frequent infections and emotional and learning difficulties. Ultimately, the best chance of success for treating the syndrome is to catch it early – which is why the Great Ormond Street for Children has invested heavily in establishing a specialist, multidisciplinary clinic specifically for those with 22q11 deletion syndrome – the first in the country. The team at the clinic are made up of paediatricians, psychiatrists,speech and language therapists and access to social care teams, who all work together to advise on how children with the syndrome can have a full and meaningful life.
More than anything else, what 22q11 deletion syndrome needs is awareness, and support around it. The Max Appeal is a registered charity, and has been set up to help support families affected by the syndrome. It needs your help, and the help of all of your friends, families and contacts to help spread the word. The Max Appeal works tirelessly to host fundraising events, help share knowledge and advice, and provide much needed support to all that they can. Their work is key to future breakthroughs around 22q11 deletion syndrome, and helping both children and adults living with the condition.
For more information about the Max Appeal, please visit www.maxappeal. org.uk, or alternatively contact the helpline on 0300 999 2211.