My son (Alex) was born with a condition called 22q11.2 deletion which means there is some missing genes on the 22nd chromosomes. This affects about 1 in 1200 people and is the second most common cause of congenital heart disease (babies born with heart defects) after Downs syndrome. Other common issues caused by the condition are:

• Feeding problems
• Immune deficiencies
• Distorted features (long fingers, small ears etc)
• Seizures due to calcium deficiencies and spinal disorders
• Cleft palate problems
• Severe speech disorder
• Mental issues in late teens/adulthood
• Ear problems
• Kidney issues

Unfortunately the NHS is largely ignorant of the condition and Alex was nearly five before he was diagnosed despite the signs being very obvious (heart surgery needed at seven weeks, speech delays etc). Sadly this is an all too common occurrence.

Max Appeal is a charity that supports families affected by 22q11.2 deletion (also known as DiGeorge syndrome or VCFS) and is doing fantastic work in trying to get more awareness of this condition and fund research into it and also offer support to families affected by it. I am very proud to do my bit for them.