Imogen Green, four, has a condition so rare she was the first in the UK to be diagnosed. MARION SAUVEBOIS talks to her parents about coping with an illness which has baffled the experts 

MYHRE syndrome... at last doctors had put a name to the disorder behind the bewildering symptoms which had plagued her daughter since birth.

Questions raced through Stacey Green’s mind: What were Imogen’s chances of a normal life? Would she suffer? What next?

Before she could ask anything, the geneticist announced Imogen was the only known case in the UK and handed her an internet printout.

Beyond the brief facts gleaned from a Google search, they were clueless about the condition.

Stacey gripped the sheet of paper utterly powerless and made for the door holding her two-year-old close to her.

She swore to get answers, for Imogen.

“They just said there was no treatment,” says the 32-year-old from East Wichel. “They didn’t know anything more themselves. They gave me the printout from Google. If you look up Myhre on Google that what’s it comes up with - a couple of genetics websites.

“When I got home we researched it ourselves to find more information, another family, just anything.”

Imogen’s was a difficult birth. She was brow, meaning her forehead was the first part of the body to enter the birth canal, forcing Stacey to undergo an emergency caesarean.

The baby was not breathing and had to be resuscitated. Soon Stacey and husband Nigel noticed a flurry of seemingly benign but obvious abnormalities on their child.

Two of her toes were fused on each foot, her little fingers curved in and the back and front of her head stuck out a little too much.

Imogen was also unable to open one eye. Doctors put it down to temporary facial palsy caused by her traumatic birth. But as the months went by the palsy did not fade.

“We trusted the doctors,” says Stacey. “They never said it was something to worry about. They didn’t seem concerned.”

“It’s your first child, you don’t know any different,” adds 42-year-old Nigel.

This was only the beginning of the long catalogue of ills that would befall the infant. Imogen struggled to feed and hardly put on any weight. At 16 weeks, she became gripped by a violent cough at night.

By the time she was eight months old, her parents were consulting no fewer than nine doctors to understand and treat her various symptoms and find ways for her to hold down solid food.

It became apparent Imogen could not walk with her feet flat on the ground. A physiotherapist confirmed she had limited joint movement and, to this day, the four-year-old wears splints.

In January 2013 she contracted pneumonia and was rushed to hospital. A lung and chest X-ray showed a malformation of the spine. Shortly after, a heart murmur was picked up.

“It came to a point where every appointment something new came up,” says Stacey with a sigh. “They kept finding problems with our child. They didn’t know what was causing all these problems - they didn’t know what to say to us.”

Eventually Imogen was referred to a geneticist to try and pinpoint the overarching condition lurking beneath the glut of puzzling symptoms.

Doctors initially believed she suffered from Alagille syndrome, a rare inherited disorder that affects the liver, but the test came back negative.

Far from comforting her parents, it raised more questions about the mystery illness which continued to evade consultants across the region.

Stacey and Nigel were told Imogen would be enrolled in a study to test all her genes one by one and identify the root cause of her problems.

When Stacey received a call from the geneticist’s office in February 2014 asking her to come in, she made nothing of it, assuming this was routine ahead of the study.

Instead, on the day of the appointment two geneticists and a counsellor met her and Imogen. The verdict had dropped: she had Myhre syndrome, a disorder so rare she was the only known sufferer in the UK.

“I cried and cried,” she recalls. “Finally we had a reason and a name for everything that she had and people could just stop guessing. But it was quite overwhelming and scary. They said she was the youngest diagnosed with it in the world. They didn’t know anything about Myhre.”

Just two more cases of the extremely rare genetic disorder have been diagnosed since 2013 in the country.

Myhre syndrome is caused by mutations in the SMAD4 gene and leads to developmental delay. Other symptoms include short stature, unusual facial features, bone abnormalities, hearing impairment, congenital heart defects, joint stiffness, and narrowing of the voice box and windpipe.

The first patient was diagnosed in 1981 and with just 40 reported cases across the world, it is impossible to predict how the condition may affect Imogen in the long term.

“We know it’s progressive but there are not enough people with it to know if she will live or if she could die,” says Stacey, stealing a glance at her daughter.

“The children we know who are past their late teens have not been able to live independently because of their lung problems or limited movements or they’re not able to look after themselves because of their learning disabilities.

“It’s all so fresh. All we can do is wait and see. What worries us is Imogen’s cardiac problems. The children we know who have needed a transplant have not survived. We asked the hospital to test her heart but they won’t until she’s a teenager. By then it could be too late.”

In a bid to give her the best chance at a healthy and relatively normal life, Stacey and Nigel have spent the past two years poring over international medical journals and contacting specialists in Paris and America.

They regularly bring the latest research to Imogen’s consultants - she is currently seeing 22 specialists for each of her separate health issues. Frustratingly, many choose to ignore the bigger picture and continue to treat each ailment in isolation.

“More and more now, when we’re going for guidance and help, we’re actually telling consultants about Myhre,” says Nigel, a Nationwide employee.

“They’ve never even heard of it. We worry it could cause more damage because they don’t know how to approach it. They don’t treat the condition as a whole, but every issue individually.”

The couple also set up a website to find other Myhre sufferers. They have since built a small network of ten families in the UK, France, Belgium, Italy and America who share their concerns, valuable medical information and updates through a Facebook group.

“The future is unknown but we had to be proactive,” says Nigel. “We are all in the same boat. It could be vital information about the syndrome.”

Along with the other two families affected in the UK, Stacey recently applied for a grant of up to £18,000 from charity Jeans for Genes to travel to America and meet the foremost expert on Myhre syndrome and finally gain a sliver of insight into the complex disorder.

“I just want to get the best for Imogen and I want to make sure she’s given as many opportunities as she can to have a good life. We have to be positive for her.

“It’s a fight and we’ll keep fighting for Imogen.”

Stacey is keen to speak to parents whose child has been diagnosed or may be suffering from Myhre. To get in touch email myhresyndrome@btinternet.com.