Max Appeal!
Supporting families affected by DiGeorge Syndrome, VCFS,22q11.2 deletion.

What is DiGeorge syndrome, VCFS,22q11.2 deletion?
A syndrome is a collection of findings or symptoms that has been seen recurring over and over again in patients. They are often referred to as congenital defects. Congenital essentially means that you were born with it.

These conditions are caused by some missing genes on one of the 22nd chromosomes: a '22q11.2 deletion'. There is no known cause in most cases as neither parent is affected. It is a fault of the human race, or a natural phenomenon, or just plain bad luck!

There are over 180 congenital abnormalities associated with the deletion including; complex heart defects (usually of the aorta or pulmonary artery); difficulties with metabolising calcium (which can cause life threatening seizures); a poor immune system (due to a missing thymus gland); reflux (constant vomiting of milk requiring tube feeding); and often a palate problem that may cause speech difficulties.

Dr. Angelo DiGeorge noticed the collection of findings of heart defect, calcium problems and no thymus. Dr Shprintzen noticed heart defects, palate problems and certain facial characteristics together and he called this Velo-Cardio-Facial syndrome.

A genetic test has only been avialable within the last few years. It is the most frequently occurring chromosome deletion affecting as many as 1 in 1,800 births and the most common cause of congenital heart defects after Downs syndrome.

Who is Max?
Max was born on 5th November 1998.  He had complex heart defects (no arterial link between his heart and his lungs, a large hole and other arterial abnomalities), his thymus gland was missing and he was unable to metabolise calcium. He suffered necrotising enterocolitis at four days old. This is literally an internal death of the intestine which then becomes infected with gangrene, he had to have 75% of his small intestine removed and a stoma created (a bag). Max then suffered repeated collapses and finally died from overwhelming septicaemia on 1st March 1999 when he was four months old.

Max was a very resilient and beautiful baby who endured ceaseless pain during his short life and his family are very proud of him.

What is 'Max Appeal' for?
Max was treated on the cardiac ward for babies at Birmingham Children's Hospital where the diagnosis of DiGeorge Syndrome is not infrequent. The shock of firstly learning that your baby has a heart defect is great but then to be later informed that this is due to a genetic fault and that there are multiple abnormalities that could potentially affect your baby is a trauma that many people can not absorb easily.

Thus we offer support to other parents because this is a life changing event for everyone as these babies require a lot of medical intervention and, when they get home, a lot of extra support and dedication from their parents.

'Max Appeal' has been assisted by DiGeorge Charity Golf, Micro-Doc (Stourbridge) Ltd, Black Country Micros, IBM Computers, Geoff Hill Charitable Trust, Ty Europe, Dudley Round Table, AC Lloyd (Builders) Ltd, Crosbee & Atkins (Builders) Ltd, Wright Hassall & Co. (Solicitors), Disney Ltd, Staples, Royal Bank of Scotland, the Millennium Festival Awards for All (National Lottery Charities Board), Aimee and Francis Durning and many others.  Thank you!

Membership of the group is FREE, please visit our website if you would like to know more.
www.maxappeal.org.uk