What care and support is available for those with deletion 22q11 syndrome?
Genetic Disorders As many as 60,000 people in the UK could have the rare genetic condition 22q11 deletion syndrome, but are not getting the medical care and support they need.
Supporting families affected by 22q11.2 deletion syndrome
Contact: 01761 462578
Helpline: 0300 999 2211
“Current estimations report that 22q11 Deletion Syndrome affects one in every 4,000 people, but a recent paper suggests prevalence of 22q11 could be as common as 1 in every 1,000,” says Dr. Alex Habel, Consultant Peadiatrician at Great Ormond Street Hospital for Children. If this is the case, as many as 60,000 people in the UK could have the condition, but are not getting the right care.
Put very simply, 22q11 Deletion Syndrome is a condition caused when a small piece of chromosome 22 is missing. The deletion is responsible for a wide range of conditions including Velo Cardio Facial Syndrome and DiGeorge Syndrome, which are generally referred to collectively as 22q11 Deletion Syndrome.
As with many genetic diseases, diagnosis of 22q11 Deletion Syndrome is difficult due to the different ways the disease presents itself in individuals. Some of the most obvious symptoms include a cleft palate or structural heart condition. However, children may also experience problems with frequent infections, hormones and growth, hearing, spine, muscles, kidneys, learning and emotional difficulties, and mental health problems as they develop into young adults. The type and severity of symptoms varies from child to child and change as the child grows, which is why Dr Habel believes a multidisciplinary approach to treating the disease is vital.
“We are beginning to understand how genes control the development of the condition” continues Dr Habel. “And that if you don’t diagnose and treat it early, a patient’s condition can deteriorate and the costs for the family and for the State will be that much greater.”
In order to meet the complete needs of patients, Great Ormond Street Hospital for Children was the first in the country to establish a specialist, multidisciplinary clinic devoted to caring for those with deletion 22q11 Deletion Syndrome. The team include, paediatricians, psychiatrist, specialist feeding and speech and language therapists, and access to social care teams and educationalists who work together to advise how to manage children so they can live a full and meaningful life.
In addition, new guidelines have recently been issued in a Max Appeal Consensus Document to guide medical professionals across the country to improve the level of care provided to all patients with 22q11 Deletion Syndrome across the UK.
Whilst early diagnosis would help medical staff provide more targeted care, Dr Habel acknowledges that there are still a lot of unknown factors that need to be addressed before testing for the syndrome becomes part of routine neonatal screening. “A simple blood test can identify if a child has 22q11 Deletion Syndrome,” explains Dr Habel. “But it doesn’t tell us about the severity of the condition, or what issues that individual may have. There is still a lot of research that needs to be done so we can take the right approach.”
Dr Habel is confident that with continued investment on research and an increased multidisciplinary approach, more patients can live with an improved quality of life. An All Parliamentary Group for 22q11 Syndrome has been set up with a group of MP’s to help raise both awareness and understanding of the needs of these families, their children and adults living with the condition.