Living with a rare chromosome disorder
PUBLISHED: 10:20 18 June 2018
Many of us have gene and chromosome abnormalities that we don't know about and that don't appear to affect us. With Chromosome Disorder Awareness Week beginning on Sunday, we meet a family who have discovered how a tiny gene change can have extreme results.
The excitement of their new baby turned into fear and worry for parents Emma and George Bartlett the moment Harry was born.
Everything, apart from the last few weeks of pregnancy when Emma had excess amniotic fluid, had pointed towards a normal, healthy baby - until that second.
Newborn Harry was so floppy and cold one of the medical team at the Norfolk and Norwich University Hospital described holding him as like trying to hold water.
He had a broad nasal bridge and Emma and George first thought was that he had Down’s Syndrome.
Emma said: “I started to realise that something really was not right. It was all a bit of a shock.
“I had that feeling that I was floating on a cloud looking down and that everything is not happening. It felt surreal.”
Harry failed to improve over the next 30 minutes and was taken to NICU (neonatal intensive care) and Emma began to panic.
“We didn’t even know if he would make it,” said Emma.
The family, who live just west of Norwich, worried incessantly as they learnt he had central hypotonia (muscle weakness) and a number of dysmorphic (physically different) features.
Over the next few days, weeks and months Harry had many tests and scans. He was home and feeding well but failed his hearing test, there were worries about his vision and he was still floppy.
At one point Emma couldn’t imagine the future. Brain scan results showed Harry had a rare brain abnormality called Subcortical Band Heterotopia, which causes intellectual disability and can cause seizures.
“It was really hard and I have to say that I was struggling and that I didn’t know how I was going to cope,” said Emma.
But with his hearing aid fitted, Harry started to progress, his eyesight improved – he now has the vision of a three month old – and Emma’s positivity took over.
“I have had bad moments but moping is not going to help Harry. If I am positive, Harry will become whatever he can.”
The medical team believed he had a chromosome disorder but with approximately 600 different conditions causing hypotonia, it wasn’t going to be easy to discover what was going on with Harry.
Tests showed his chromosomes were intact so the fault lay with individual genes, somewhere.
Emma and George had heard of chromosome disorders and knew they were often behind all sorts of symptoms, from social, emotional and learning difficulties to deafness, heart and digestion problems, hyper mobility and hypotonia. But they had no idea there were so many chromosome disorder variations.
“Most people have abnormalities that don’t cause any symptoms,” said Emma, whose knowledge of genes, chromosomes and medical terms has expanded considerably since Harry’s birth.
“Trying to locate individual genes is like trying to find a spelling mistake in a bible,” said Emma. But finding Harry’s brain abnormality was a big clue to locating the gene change and within five months he was diagnosed as having the rare genetic disorder Baraitser-Winter Syndrome Type 1. There are less than 50 documented cases in the world and only one other with his exact gene change.
A diagnosis helped the family; they joined Unique, the rare chromosome disorder support charity, and a Facebook group of other families with the condition.
“We now have a little more certainty about his future, not a lot because the spectrum of this disorder is broad, but we do know that there is no degeneration.
“Every step of the way he has been defying all the predictions.” adds Emma, adding that big sister Annabelle, three, is super proud of her baby brother.
“She is amazing with him, so helpful, so gentle and so loving.”
Harry wasn’t expected to be able to sit until he was one or walk until he’s two, but at eight months he can sit unsupported for a few moments and his legs will bear his weight.
“He is happy and content all the time. Now I have got over my initial angst and able to see his progression and get smiles, he is just my baby and he has so much love to give.
“He has been dealt a really rough blow but he just has this determination to get on. I hope that people will learn from him that life is not that bad, his glass is half full, not half empty.”
Emma and George are in training to run the Norwich 10k in August to raise money for The Norfolk and Norwich University Hospital NHS Trust Charitable Fund as thanks for the awesome support for their family.
Emma says: “We have been so fortunate to receive so much help and support from the start. As Harry’s condition was evident at birth all the referrals he needed were in before he left the hospital. He receives help from physio, occupational therapy, teacher for the multi-sensory impaired, portage, neurologist, neonatologist, health visitor, ophthalmologist, optometrist, audiologist, community paediatrician and the geneticists. We rarely have a week where we have no appointments,” she adds.
Support them at www.justgiving.com/fundraising/emma-bartlett4 and www.justgiving.com/fundraising/g-bartlett1
For more information about rare chromosome disorders and Chromosome Disorder Awareness Week contact Unique on 01883 723356, www.rarechromo.org