'1 in 15,000': Baby born with rare condition thriving due to life-saving scan
ITV News Meridian's Mel Bloor has been to meet Jessica, Jake and Sunny Young at their home in Stanford in the Vale
Jessica Young was just 36 weeks pregnant when her son Sunny was delivered by emergency caesarean section at the John Radcliffe Hospital.
A routine scan had revealed that she had placental insufficiency and Sunny wasn't getting enough oxygen or nutrients. What followed was a two month ordeal to save his life.
Shortly after he was born, Sunny was diagnosed with Beckwith-Wiedemann syndrome.
The genetic condition, which affects one in 15,000 babies, causes parts of the body to grow too much, including the tongue and one side of the body.
It also increases the risk of childhood cancers.
Sunny spent 62 days in hospital while he received care. His mother, Jessica, says it was the experiences of others which helped make everything more manageable.
"When Sunny was first born, one of the first things that I did was look online for other people who have been through this, and it made it feel a lot less scary," she said.
"I found somebody on Instagram who had posted lots of videos and photos of their son's experience and it just made it feel so much more manageable."
Ten months later and Jessica and her husband, Jake, say Sunny is now thriving although he'll have to have regular check-ups until around the age of seven.
Although there's no cure for the disease, most children grow up to be healthy adults so the Young's are focusing on a positive future together.
Jesssica Young, Sunny's mother
Jessica and Jake are walking 62km across the South West Coast Path to represent the first 62 days of Sunny's life spent in hospital.
As well as raising money for charity, the couple are set on raising awareness of Beckwith-Wiedemann syndrome more widely.
They also want to thank staff at Oxford's John Radcliffe Hospital for the life-saving action they took after Jessica's pregnancy scan and the SSNAP charity, which supports newborns and their parents.
Jake said: "Because it's so uncommon, and when you hear it's a syndrome, you feel like this could be really bad. You're not really too sure.
"So to get more awareness out to people, you know, that there's a lot of support there, it's quite reassuring to think, well, you know, this is going to be okay."
What causes Beckwith-Wiedemann syndrome (BWS)?
BWS is caused by abnormalities at chromosome 11p15. There are a number of different abnormalities that we see.
The names are quite complicated, but are important to the doctors so they can give you the right advice.
Most of these cannot be inherited and have a very low chance of happening again in the family. These include:
KvDMR hypomethylation (this is the cause of 50 per cent of children with BWS).
Paternal uniparental disomy 11p15, often written UPD 11p15 (20 per cent).
H19 hypermethylation (five per cent).
What are the signs and symptoms of BWS?
The most common features of the condition include:
Increased height and weight at birth or in childhood.
Asymmetry of growth, for example one arm or leg larger than the other (hemihypertrophy).
Large tongue size (macroglossia).
Low blood sugar in the first few days or weeks of life (neonatal hypoglycaemia).
Umbilical hernia or other abdominal wall defect, for example exomphalos where the intestines and sometimes other organs such as the liver remain inside the umbilical cord but outside the abdomen at birth.
Some children with the condition are at risk of Wilms' tumour of the kidney.
Other features of the condition include subtle alterations in the shape of the ears and, rarely, cleft palate or a congenital heart defect.
Tumours other than Wilms' tumour, for example hepatoblastoma (childhood liver tumour), occasionally occur in childhood but are much less common.
Learning difficulties are not part of the condition other than in the very small number of children with a complex chromosome abnormality.
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