These five children are among 6,000 children born annually in the UK with a syndrome that does not have a name
YOU would never guess from their sunny smiles, but these five have conditions so rare they could each be the ONLY person on the planet to have it.
They are among the 6,000 children born annually in the UK with a syndrome that has no name. CLARE O’REILLY asked their mums how they cope with life, and such an uncertain future.
‘Terrifying as he would stop breathing two or three times a day’
Louise James, 40, is a full-time mum from Bristol. Her son Scott, eight, has a genetic neurological condition. Louise says: “My pregnancy with Scott was normal, but within six hours of his birth, he stopped breathing.
He was resuscitated but it started a pattern where he’d stop breathing two or three times a day.
It was terrifying but doctors couldn’t find a cause so they gave us resuscitation training.
The tests had come back normal so they hoped he’d grow out of it.
But things were getting worse.
He’d have seizures in his sleep and his ‘startle’ reflex was accompanied by bulging eyes, which would last for 20 seconds.
When he was 13 months old, the seizures kept him awake for 23 hours.
He was very poorly and after a three-week stay in hospital it was suggested it could be a genetic condition.
But his results don’t fit any existing genetic syndrome.
He has symptoms of some others but he could be the only child in the world with whatever he has.
He gets swollen joints and isn’t very mobile, he’s mentally and developmentally around two years old.
He also has a visual impairment and a heart defect.
While he’s one in a million, in lots of other ways he’s just like a normal little boy.
He loves trains, his trampoline, sausages are his favourite and he’d do anything for some Pringles.
Accessing treatment hasn’t been easy – when you have a diagnosis you know what to ask for.
People say it shouldn’t matter, but we don’t have any prognosis or treatment for him at all.
He might not make it to adulthood or he could live to old age, not being able to help him is so tough.”
‘I wouldn’t change Ivy for the world, I just wish we could help her’
EVENTS planner Tonya Fay, 34, is a mum to Darcy, four, and three-year-old Ivy Grace who is undiagnosed although she does have- some symptoms of Down’s syndrome.
Tonya, from Harwich, Essex, says: “Despite scoring a perfect ten on the newborn tests, a week after Ivy came along, she was still in a foetal position.
She also had double eyelid folds – a friend’s son had just been diagnosed with Down’s syndrome and their eyes looked the same so I thought that’s what she might have.
She was referred to a paediatrician but she didn’t have any other Down’s symptoms.
When she was six months old she was very short and had a large head circumference.
She had more tests for common syndromes but they came back with nothing. It wasn’t a relief though, it just made me realise what she had was exceptionally rare.
She was tiny for her age and, while she’d develop like her big sister Darcy, who is 13 months older, she’d also forget how to do things. She would walk, then forget for a few days how to do it.
By two she had developed all her teeth but they were all rotten despite her being breastfed and not having had any juice at all.
The specialist dentist we saw said they had only ever seen teeth that bad on a child with Down’s.
She was referred to a geneticist at Great Ormond Street who agreed she had something but said diagnosing her was going to be like trawling the whole ocean for one fish.
Ivy is warm, loving, she adores her sister and doesn’t let anything hold her back.
I wouldn’t change her for the world. I just wish we could help her.”
‘The best use of our energy is to make Mia as happy as we can’
JO WOOLLARD, 33, is an administrator for the NHS who lives in Maidstone, Kent, with partner Nick McDonald, 37, an IT worker.
After having daughter Mia in 2014, Jo realised something wasn’t right. She says: “Mia was breech but when she was a few days old I noticed she wasn’t suckling properly.
She had bad reflux and would scream like she was in pain.
Lots of her milestones seemed delayed.
By nine months old she still wasn’t focusing on me at all and was diagnosed with visual impairment. But she was still behind.
A few weeks after we got a letter suggesting she might have Joubert syndrome, which is a mental and physical disability.
I was in a state, no-one had said anything to us at all about a condition like that.
An MRI scan confirmed she didn’t have Joubert, which was a relief but we still didn’t know what she had.
I was still attending baby classes but it was getting more isolating for me – all the children were developing and Mia wasn’t.
She’s four now and we still don’t have a solid diagnosis.
She doesn’t walk or talk, she can’t feed herself or sit unaided.
She cries a lot too which is heartbreaking as it seems like she’s always in pain but can’t verbalise it to us.
Nick spent months reading everything he could, but realised we weren’t going to get an answer.
No one can tell us right now what she has so the best use of our energy is to make her life as happy as we can.
Mia has gone through so much but she is an amazing little girl and we love to see her beautiful smile.”
‘She can do a lot but not knowing is frustrating’
ACCOUNTS assistant Michelle Ritter, 42, is mum to six-year-old daughter Eleni, who has an unidentified syndrome.
Michelle, who lives in South East London, with Eleni, son Denny, seven, and partner Steve, 44, says: “When Eleni was born at home two weeks early, the ambulance crew suspected she’d broken her arm in the delivery so we went to get her X-rayed.
But we found her radial bone, which connects her elbow to her wrist, was missing.
She also only had four fingers and no thumb on her right hand.
Her body seemed unusual, she was scrunched up and her shoulder looked strange.
I turned to Google and found Klippel-Feil syndrome, a bone disorder where neck bones can fuse together, but she didn’t fit every symptom.
When she came home she developed just like her brother Denny had. He was one when she was born.
But at six months old, she was referred to a spinal surgeon.
We were told she had horseshoe kidneys – that they were joined together – nasal sinus tract and a dermoid cyst made up from residual embryonic cells.
She has a great set of individual specialists but no one who’s looking at the bigger picture so she hasn’t had a firm diagnosis.
She’s on target with all her peers and has even done some things ahead of Denny – like riding a bike.
While we know she can do a lot, it’s frustrating not knowing what she has.
A diagnosis would mean we could plan for the future but a lot of her specialists say that as she’s developing normally that’s all that matters.
She’s our world and we adore her.”
‘His milestones were delayed, he has no speech’
KELLEY Fulford, 32, from Eastleigh, Hampshire, has a nine-year-old son Theo, who has no speech and cannot yet be diagnosed.
Kelley says: “I was meant to be under specialist care when I was pregnant with Theo because of his reduced movement, but I was never referred.
Scans showed his proportions weren’t what they expected either, his head was large but his torso small.
When he was three days old I took him to A&E because he wouldn’t stop being sick.
Then at three months he was referred to an ophthalmologist as his eyes were moving involuntarily of one another.
He wasn’t like his peers and I knew there was more going on. When he was nine months I took him to the health visitor and refused to leave until he was referred to a paediatrician.
I was told he had plagiocephaly – one side of his head was flat. It’s considered a cosmetic procedure on the NHS so we paid to have him treated.
He was referred to a neurologist who did so many tests but nothing conclusive came back. He also has stomach issues, which have never been diagnosed.
Theo is part of the 100,000 genome project, which is focusing on diagnosing rare conditions, but so far nothing has matched his genetic sequence.
Until a new symptom appears, there is nothing anyone can do to help.
He has no speech and his milestones were all delayed. A diagnosis for us would mean understanding.
I don’t know if he’ll start speaking at some point, whether he’ll grow old, whether he’ll fit into society.
Every time a letter drops on the mat from the hospital, my heart races and I think ,‘Could this be it? Are we a step closer?’
One day, I hope I’ll get the letter we want.”
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