A BABY was diagnosed with a rare syndrome after being born with an ear on the right side of his cheek.
Vinnie James, who’s just four-months-old, has Goldenhar syndrome – an extremely rare condition characterised by the abnormal development of the eye, ear and spine.
Vinnie James with an extremely rare condition – Goldenhar syndrome[/caption]
His parents Grace and Rhys noticed a small ear on his cheek after he was born[/caption]
Vinnie was also born without a right eye[/caption]
His parents Grace, 25, and Rhys James, 26, noticed a small ear on their newborn son’s cheek after he was born and he was rushed to intensive care.
At two-months-old little Vinnie, who was also born without a right eye, was diagnosed with the condition, and has since undergone surgery to have a tracheostomy fitted when he stopped breathing.
Vinnie has started to undergo the process to have a prosthetic eye fitted and will need a surgery to relocate his ear in the coming years.
Rhys, a business owner, from Bridgend, Wales, said: “When Grace gave birth, he wasn’t breathing, so they rushed him over to a table, and I didn’t know what to do, I went into the toilet and started praying.
“I then noticed a small ear on his right cheek, I didn’t know what had happened – I was really shocked in the moment.”
Grace had a smooth pregnancy and had been unaware of Vinnie’s condition before he was born.
Vinnie was born on November 9, 2024 but was immediately rushed to the intensive care unit at Glangwili Hospital, Carmarthen, when he wasn’t breathing.
He was put on a ventilator for an hour after he was born and doctors told his parents they suspected he might have Goldenhar syndrome.
Rhys said: “We didn’t know what it was, we were really shocked and had no preparation for it. We sat there, confused and tired.”
They stayed in Glangwili Hospital for four days before being moved to Heath Hospital in Cardiff – where Vinnie stayed for 61 days.
After an initial discharge meeting, Vinnie’s doctors conducted a sleep study, but when he stopped breathing he was rushed into surgery.
Rhys said: “He was a month and a half old when they had to give him a tracheostomy.
“After surgery, he was on a ventilator, but doctors started to realise his lungs were too strong, and he was breathing against the machine, so he was off the ventilator within a week.
“It was really amazing, we knew he was progressing.”
After the surgery, Grace and Rhys spent time completing training on tracheostomy care, including how to pass a nasogastric tube – a tube that passes through the nose into the stomach – to feed Vinnie.
Despite his progress, Vinnie’s tracheostomy still has to be suctioned multiple times a day, and he is more prone to illnesses and infection.
He has suffered from two chest infections since being discharged from hospital.
Vinnie is now under the care of Great Ormond Street Hospital and has begun the process to get a prosthetic eye fitted.
He will also need a surgery to relocate his ear in the coming years.
Vinnie’s parents now must travel from Bridgend to Great Ormond Street Hospital, London every two weeks for his eye appointments – with the cost of travel and living expenses becoming overbearing.
Fundraising help
A GoFundMe page was set up to help support Vinnie’s parents with these expenses – and has raised £4,900 so far.
Rhys said: “It’s the biggest blessing we’ve ever received.”
Vinnie’s mum, Grace, is now a full-time carer for their son, having formerly been a receptionist.
Rhys said: “When I have a day off, I don’t get paid, so the money is the most amazing thing for us in this situation.
“We wouldn’t be able to do it without the money, I’d be in a lot of debt.”
With thousands raised, the family’s worries about financial aspects of Vinnie’s care can be less of a burden – but there are still countless procedures and surgeries in Vinnie’s future.
Vinnie is now under the care of Great Ormond Street Hospital and has begun the process to get a prosthetic eye fitted[/caption]
He will also need a surgery to relocate his ear in the coming years[/caption]
Rhys added: “I can’t even put into words how much this will help.
“We say the soul is more important than facial features, but for his quality of life, it will matter to him.”
Despite all the challenges, parents Rhys and Grace have stayed positive.
Rhys said: “We’re still new to this, but we’ve learned to adapt to the situation and use it as a positive to spread awareness for those who suffer from disabilities.
“We want to push people to contact us, if they feel like they’re struggling – we’d love to speak to people and tell them how we got through this journey and give them advice.
“Hopefully Vinnie can inspire a lot of people.”
Support Vinnie and his family by clicking here.
What is Goldenhar syndrome?
Goldenhar syndrome is a rare birth defect that affects the development of the face, ears, spine, and other organs.
The condition gets its name from Maurice Goldenhar, the researcher who discovered it in 1952.
Goldenhar syndrome is rare, with experts estimating between one in 3,500 and one in 25,000 babies are born with the condition.
The exact cause is unknown, but it occurs because of a change in a chromosome.
One of the most common signs of Goldenhar syndrome is hemifacial microsomia.
Hemifacial microsomia often causes an underdeveloped jaw, cheek and eye on one side of your face.
Some people have one unusually small ear (microtia).
Others may be missing one ear (anotia) or have hearing loss.
Up to one in three people with Goldenhar syndrome have underdevelopment on both sides of the face.
They may also have problems with their kidneys, heart, lungs or spinal bones (vertebrae).
Up to 15 per cent of people with Goldenhar syndrome have a type of intellectual disability.
Other Goldenhar syndrome symptoms include:
- Cleft lip or cleft palate
- Congenital heart defects
- Dermoid cysts on your eye
- Hearing loss
- Hydrocephalus
- Obstructive sleep apnea
- Missing eyelid or other tissue (coloboma) and vision loss
- Scoliosis, a curved spine
- Speech difficulties
- Strabismus (crossed eyes)
Rarely, healthcare providers may detect signs of Goldenhar syndrome in a fetus.
The condition is usually diagnosed at birth.
Source: Cleveland Clinic
