Health

9 year old boy has diagnosed with 1 in 2M condition ‘stone man syndrome’

A schoolboy has been diagnosed with a deadly one-in-two-million condition called “stone man syndrome” that is causing him to grow a second skeleton.

It means a simple knock or sneeze could be catastrophic for nine-year-old Ellis Grant as it could cause his soft tissue, muscles and tendons to turn to bone.

His painful symptoms were a mystery until his mum Suzanne, 40, happened to flick through a newspaper on her lunch break one day and read a story about a child with the crippling disorder.

Doctors had been left baffled after years of tests, but they finally diagnosed Ellis with ultra-rare fibrodysplasia ossificans progressiva (FOP), which inevitably leads to death as there is no cure.

No effective medical treatment is known for the disease, which gradually limits a person’s mobility and can make it difficult for them to speak, eat or breathe.

The medical mystery causes the body’s tissue to be replaced by bone outside the skeleton, usually moving from the neck and shoulders down the body and into the limbs, according to Genetics Home Reference.

There are only about 800 confirmed cases in the world – and Ellis’ parents fear he will lose his ability to move his arms or even walk.

Currently, he walks with a slight limp and the vertebrae in his neck are fused, so he cannot look up or down.

Ellis’ building society manager mum, of Linsdale, Bedfordshire, said she doesn’t like the term “stone man syndrome”, but it’s the best way to explain her son’s condition.

She said: “You can see the penny drop when they realise that he’s literally growing a second skeleton, which will restrict his movement more and more over time.

“Something a simple as a cough or sneeze could be life-changing for Ellis, as he could pull a muscle and cause a flare up.”

After a textbook pregnancy and problem-free birth, Suzanne – who has another child, Hope, 11, with her operations manager husband Rob, 42 – said a midwife’s throwaway comment that Ellis’ toes looked a little unusual was in fact the first sign of what was to come.

Suzanne said: “His big toes turned under the rest of his toes, so they did look unusual, but we were told it was likely just bunions which would improve over time.”

Over the coming months, Ellis seemed perfectly healthy – although he was slightly delayed hitting milestones like rolling over.

But at four months old, he suffered what Suzanne now knows to have been a seizure.

Though it is unclear whether it was related to the FOP, it triggered the start of a series of tests, which eventually led to a diagnosis.

She recalled: “He suddenly started screaming and had twisted his body into what I can only describe as a C shape.

“I picked him up and his eyes had rolled into the back of his head. We saw the doctor, who thought it was likely to just be colic.

“But, over the next few weeks, the same thing happened intermittently until he had an episode in front of the doctor, who realised it was a spasm.”

Referred to Milton Keynes University Hospital in Buckinghamshire, Ellis had numerous tests, including MRI scans, lumbar punctures, where a needle is inserted into the spinal canal to collect fluid for diagnostic testing, and an ECG to check his heart.

But, as FOP is so rare, nobody realised it was the cause of his problems.

Then, in 2014, he went to a friend’s party feeling perfectly fine – but returned with a lump on his neck, that had sprung up from nowhere.

Suzanne said: “I knew there had to be something underlying tying all of this together. A little while later, I was on my lunch break at work, flicking through a paper, when I noticed an article about another little girl with FOP.

“It could have been about Ellis. The toes, the lumps that come from nowhere – it was all there.

“I was convinced he had it and showed the piece to the doctor.”

Meanwhile, Ellis had been due to have corrective surgery to his toes.

But, fearing the procedure, which would involve breaking a bone, could cause untold difficulties if he did turn out to have FOP, Suzanne asked for further tests to rule it out first.

Referred to an expert at Oxford’s John Radcliffe Hospital, initial findings were unclear – but a genetic blood test eventually led to a positive diagnosis.

Suzanne said: “I remember being angry. The best minds in the country had been working on this, yet I’d stumbled upon what was wrong with Ellis in some random newspaper one lunchtime.

“I really appreciate the NHS, though, it is absolutely fantastic. Doctors can’t be expected to be experts on everything and FOP is incredibly rare.

“But the what ifs are immense, and I still think about them now. What if I’d never read that article? What if the doctor hadn’t believed me that day? What if Ellis had gone ahead with his operation?”

Once Ellis was diagnosed, the family was put in touch with a charity called FOP Friends.

Suzanne said: “I was told not to Google FOP, as I’d only focus on the negatives, so I emailed the charity instead. That same night, the co-founder, Helen, called me and stayed on the phone for an hour while I sobbed.

“She was fantastic. She listened, and told me she couldn’t take away the diagnosis, but she could help me to understand it.

“She put me in touch with some local families, who were a huge help, when we met. I went for lunch with some adults with FOP and seeing them, how they had jobs and partners and lives, was so helpful.

“Here they were, talking so positively about something that I thought was my worst nightmare. All I’d been focusing on was what Ellis wouldn’t be able to do. I’d wake up every morning scared – but now I had hope.”

While she is determined to stay positive, Suzanne explained how Ellis’ condition is progressive.

Currently, he walks with a slight limp and the vertebrae in his neck are fused, so he cannot look up or down.

He also has some learning disabilities – although it is not known if these are a result of FOP.

Admirably, Suzanne has pledged to be as honest as possible with her boy.

She said: “My biggest fear is that he won’t be able to lift his arms up to give me a hug, or that his jaw will fuse and make it difficult for him to talk.

“But we try to focus on what he can do now, and give him those memories for when the day comes that he can’t. He loves Riding for the Disabled, swimming and playing with his sister.

“Sometimes, he asks questions that, as a parent, I don’t feel ready to answer. But I don’t want him to be afraid, so I would never lie to him and tell him as much as is appropriate for his age.

“He asked me the other day if he’d need a wheelchair. The honest answer is I don’t know. But I said, ‘You don’t today Ellis, so let’s focus on that’. It’s a balance between letting him be a nine-year-old boy who has fun and keeping him safe.”

Now, Suzanne is speaking ahead of Jeans for Genes Day 2018 on 21 September.

This year, FOP Friends – who have been an invaluable help to the Grants – will receive a Jeans for Genes Day grant, to provide a residential weekend at Centre Parcs for 13 families.

Poignantly, it was on a previous weekend to Centre Parcs that Suzanne met the mother behind the story that led to Ellis’ diagnosis in the first place.

She said: “I thanked her, adding that because of her, I want to speak out, too. It’s a very personal story, but if I can help one other family, I’ll be happy.

“FOP Friends have been incredible. It’s fantastic to have that support from someone who is living through it.

“They’ve taught me that it’s okay to have down days – but it’s not okay to unpack and move into the gloom, to dwell on those dark thoughts. Because tomorrow will be better.”

What is fibrodysplasia ossificans progressiva?

According to Genetics Home Reference, the disorder causes muscle tissue and connective tissue such as tendons and ligaments to be gradually replaced by bone outside the skeleton.

It is caused by mutations in the ACVR1 gene, which gives orders for producing bone morphogenetic protein (BMP) type I receptors.

Those receptors help to control the growth and development of the bones and muscles.

For FOP sufferers, the second layer of bone constrains movement and is usually noticed in early childhood – first with the neck and shoulders before it spreads down the body and into the limbs.

People with the condition progressively lose mobility as the joints become affected, and they may be left unable to full open their mouth, making it difficult to speak or eat.

GHR said: “Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs.”

Any trauma to the muscles – caused by a fall, for example – may cause muscle swelling and inflammation, followed by rapid ossification in the injured area.

The flu or other viral illnesses can cause flare-ups.

People with FOP are usually born with malformed big toes, which helps to distinguish the disorder from other bone and muscle problems.

They may also have short thumbs and other skeletal abnormalities.

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