Jean's story

In August 1993 our son was born and was diagnosed with a rare condition known as Proteus Syndrome. It is a congenital condition ie. the abnormalities are defined at birth, although some may not be fully apparent and will develop with age.

In simple terms Proteus Syndrome shows itself as an asymmetrical - one sided -overgrowth of almost any part of the body together with a variety of other tissue abnormalities, such as warty lesions on the skin and various soft tissue lumps. The overgrowth is both in length and circumference. The most characteristic forms of overgrowth are asymmetrical enlargements of the skull, the part of whole of one or more limbs, skeletal abnormalities such as bony lumps and spinal deformities, glaucoma from abnormal blood vessels behind the eye and the overgrowth of internal organs, such as the kidneys, spleen and lobes of the brain. At present it is not known what causes the condition.

The syndrome was only identified in 1979 and in 1983 a German paediatrician gave the name of Proteus Syndrome to the condition. The name was taken from Greek mythology, to emphasise the changing nature of this condition - Proteus , the Old Man of the Sea , who could change in shape at will to avoid capture.

When he was born, our GP had not encountered the condition and we were referred to Gt Ormond St Hospital for Sick Children in London who were already treating a small number of children with Proteus. He has been attending GOSH ever since, both as an in and out patient.

He is affected in the left side of his body, with his hand and arm up to and including the shoulder blade, experiencing significant overgrowth - his hand, at the age of eight is larger than an adults. With related complications, he has to attend Gt Ormond St Hospital regularly - one year requiring 14 visits, with 3 in patient stays for treatment and operations. From the age of 18 months he has had operations to his hands, fingers, back and upper leg with regular laser treatment for his associated birthmarking. We have been supported throughout by our local paediatric consultant .

He is fortunate in that his legs are not unduly affected, however, a lot of children have severe overgrowth of a leg / foot which gives them great difficulty in walking - a foot can easily become distorted to a difference in shoe size of 4 -5 sizes, in length and circumference.

It is difficult to predict how a child will be affected in future years. Proteus causes growth spurts at different times during a childs life, for example one finger or toe may suddenly experience accelerated growth and become disproportionately large or one foot or hand which had been normal may begin to overgrow.

A further complication is the occurrence of thrombosis in the veins. These can be trauma related - caused by knocks, etc. They are extremely painful, usually require the taking of an anticoagulant to thin the blood and reduce the clot and can cause deep cell cellulitus - infection - requiring specialist antibiotic treatment. For an active child, you can appreciate that these are not good news as we can testify!!

Proteus is a very rare condition, there are approximately 30 - 40 families in the UK where Proteus has been identified and when our son was born there was no support group available for parents and children to turn to. Four years ago, one parent decided to start a support group, which was named Proteus Family Network UK and soon after I took on the role of secretary for the group.

Gradually the group has grown. We hold annual family weekends, having speakers from Gt Ormond St which gives the opportunity to get together and share experiences and issue Newsletters 2 -3 times a year. We have a Medical Board supported by consultants at Gt Ormond St and are applying for charity status.

We aim to support families by distributing information, giving support and advice as appropriate, often just listening when a parent is coming to terms with the news that their child has been diagnosed with Proteus. We also try to help practically for example, by locating places where specialist shoes of differing sizes can be bought, and parents can obtain non standard clothing which will fit overgrown limbs, etc. - with an overgrown arm it is impossible to buy a shirt for a boy, pyjamas come in pairs but the right size for the 'bottoms' will not fit the top so 2 pairs have to be brought and gloves are nearly impossible to locate - yet very necessary - you can see the problem!

Proteus is a difficult condition to live with, but as a family we move forward together supporting each other and he gets as much out of life as any other child his age. No doubt there will be other difficulties to overcome in the future, but we are sure that as a family we can overcome them.