By Jane Elliott
BBC News, Health reporter
When Tracey Page gave birth to her third child, Toby, she was expecting a normal delivery and healthy baby.
'He is a gorgeous little boy, but he has a lot of problems'
The pregnancy had gone as planned but within minutes of the birth there were problems.
Toby, who weighed 7lb 12oz (3.2kg) at birth, had difficulties breathing and was whisked into special care.
Doctors found he had a heart murmur and he was transferred to Southampton General, where he was diagnosed with pulmonary stenosis - narrowing of one of the heart's four valves, restricting blood flow to the lungs.
He was then also diagnosed with Hirschprung's Disease - a rare bowel disorder - and needed surgery to allow food to pass through to his intestines.
Because Toby had two birth conditions diagnosed, the hospital sent his case to the genetics department for further investigation.
And at the age of one month doctors said they suspected Toby also had Mowat Wilson Syndrome (MWS) - a genetic condition that impairs mental development. Five months later this diagnosis was confirmed.
"The first couple of weeks were horrendous," Tracy recalled. "I just could not believe it, he looked so normal.
"Initially, we were very shocked and extremely worried and frightened about the future, but you can't help but look at Toby and smile.
"He brings a smile to everyone he meets.
"This helped us through and enabled us to see the little boy behind the syndrome.
"He is a gorgeous little boy, but he has a lot of problems.
"He is a very sickly child. He is small for his age and although he is now two he only looks like a one-year-old."
The Page family knew nothing about the condition, which is thought to affect one in 10,000 children.
They researched it on the internet.
Tracy said: "The documented cases at the time were only of those very severely affected, so made for frightening reading."
Tracy found the support group comforting
The more they researched, the more they were forced to admit that Toby had the condition - sharing the facial characteristics, which include a prominent but narrow triangular chin, distinctive ear lobes and wide-set eyes.
"Once you have seen a child with Mowat Wilson then you can spot them a mile-off. We recently had a meeting and all the children looked similar.
"Talking to other parents and getting involved with the support group has helped a lot.
"All the children I have met with MWS are great kids, whose personalities seem to come shining through despite the considerable obstacles placed before them."
But she said that despite a diagnosis, families like hers are left with many unanswered questions.
"Because it is such a new condition, there is lots of research still to be done. There are so many things they cannot tell us, such as if it is life-limiting."
Many of those with Mowat Wilson were wrongly diagnosed in the past and recently a 48-year-old man was diagnosed in Birmingham.
Dr Nick Dennis, of the clinical genetics department at Princess Anne Hospital Southampton, agreed: "We don't really know how common it is because a lot of cases undoubtedly remain undiagnosed.
"At the moment this syndrome is well known to clinical geneticists but not to most paediatricians.
"From the number of cases we have seen here in the last few years I would guess it is at least 1 in 10,000 children - for genetic syndromes that is not rare."
MWS is a complex genetic syndrome caused by mutations in a gene on chromosome two or by small chromosomal deletions that remove one of the two copies of the gene normally present in cells.
Dr Dennis said: "It will usually only be diagnosed if a clinician recognises the characteristic pattern of abnormalities and orders the appropriate test, which is somewhat specialised and only available through a clinical genetics service.
"The test is sensitive in that it finds a genetic abnormality in the great majority of clinically typical cases.
"There is no specific treatment - just management of the various features of the syndrome by standard medical and educational approaches."
Nigel Lock, who founded the Mowat-Wilson Syndrome Support Group said a support network was vital to help families.
"Our members can meet face to face along with their siblings."