Newborn

A syndrome is a collection of symptoms found occurring together in a pattern. Dr Angelo DiGeorge described one set of symptoms. A similar set of symptoms were described by Dr Shprintzen and he called this Velo-Cardio-Facial Syndrome (VCFS).

DiGeorge Syndrome and VCFS are usually caused by some missing genes on one of the 22nd chromosomes, called a 22q11.2 deletion. This tells the location where the genes are missing from, rather like a genetic address or postcode.

There is no known cause in 90% of cases as neither parent has DiGeorge syndrome. It is a problem of the human race, or a natural phenomenon, or just plain bad luck!

It is vital to understand that there is nothing that could have been done to prevent or cause this to happen:

IT IS NO-ONE'S FAULT!

Your baby was destined to have DiGeorge syndrome from the instant of conception. Either the egg or sperm from which the baby was made had those genes missing and no-one yet knows why that happens.

Babies with DiGeorge syndrome can have many problems or just a few. It is very broad spectrum. Each baby will be different.

Please be re-assured

with your love and support your baby has an excellent chance of growing up to enjoy a completely 'normal' life.



The most frequent problems include:

q a heart defect - your baby will be seen by a paediatrician who will help you with this.
q difficulties with metabolising calcium (which can cause seizures), - this is treated with medication.
q a poor immune system (due to the lack of a thymus gland), - your baby may be more susceptible to colds, chest and ear infections.
q Feeding difficulties/reflux (nasal vomiting of milk), this is usually due to a problem with the soft palate and can be treated when the child is older. This is the more prominent feature associated with VCFS.
q Mild developmental delay - your baby will reach the usual milestones but may take a little longer to get there.

Further information is readily available and we are very happy to talk through any questions or problems you or your family may have.



The group has been set up by parents whose babies have been treated on Ward 11 at Birmingham Children's Hospital to provide information and support to other parents whose children are diagnosed with a 22q11.2 deletion/DiGeorge Syndrome/VCFS.

Please feel free to contact us or visit our web site where you will find pictures of children of varying ages, we will be happy to send you any information if you do not have internet access. We also have merchandise available to purchase.

Membership of the group is free.

Max was born on 5th November 1998. He had complex heart defects (no arterial link between his heart and his lungs, a large hole along with other arterial abnormalities) and he was unable to metabolise calcium. He suffered necrotising enterocolitis at four days old. He then suffered repeated collapses and finally died from overwhelming septicaemia on 1st March 1999 when he was almost four months old. Max was a beautiful baby whom his parents are proud to have bought in to the world but longer would have been nicer!

"Max Appeal!" has been assisted by Micro-Doc (Stourbridge) Ltd, Black Country Micros, IBM Computers, Geoff Hill Charitable Trust, Ty Europe, Dudley Round Table, AC Lloyd (Builders) Ltd, Wright Hassall & Co. (Solicitors) and the Millennium Festival Awards for All programme (National Lotteries Charities Board), Bank of Scotland and Mr G Hamilton