Joys and trials of a child with Wolf-Hirschhorn Syndrome at RAREfest20

The impact of discovering your child suffers from a rare disease cannot be underestimated – and Tom Almeroth-Williams makes no attempt to gloss over the moment he and his partner Hélène were told their daughter, Julia, has Wolf-Hirschhorn Syndrome.

The moment came just two weeks after Julia, now three, was born at the Rosie Hospital.

“Usually it’s more like 11 months – this was early because of our living in Cambridge,” says Tom, who works in the research communications team at the University of Cambridge.

“In fact when we’ve spoken with doctors and pediatricians they ask: ‘Was it a good thing to have had the news so early?’ They were thinking that maybe it’s better not to know for a while, and it was an unbelievable trauma but from that moment on it’s helped so much mentally, it’s meant we were able to plan better, and also it’s great to be armed with so much knowledge.

“Often the parents are told when their child is aged around one, or they are asked: ‘Why is your child so skinny, aren’t you feeding her properly?’”

There are probably fewer than 50 children in the UK with Wolf-Hirschhorn Syndrome, a genetic disorder characterised by delayed growth, poor muscle tone, a distinctive facial phenotype and seizures when younger.

Tom, who will appear with Hélène, a project manager in environmental services, and Julia in a film to be shown at RAREfest20 on Saturday, “downloaded all the research ever published” about the disorder following the diagnosis.

“It’s not progressive fortunately, all being well we’re looking for more and more progress in the coming years,” adds Tom. “There are pretty unpleasant seizures – Julia has been in Addenbrooke’s 20 or 30 times, including four or five times in intensive care on a ventilator, but she bounces back amazingly. After the age of five the seizures tend to tail off, but many parents find that aspect the most upsetting.”

Like any parent, Tom takes pride in the progress his daughter makes.

“It’s 50/50 whether she will walk but it’s getting better – she’s standing and can take supported steps. It feels miraculous from when we were sitting in a white room hearing the diagnosis and all your hopes and dreams are stripped away from you,” says Tom, adding that the pain of this moment has since been overlaid by a renewed sense of the wonder of life as Julia has grown into a loving and sociable child.

“All the things we completely take for granted... the last three years have completely changed our outlook. Nothing Julia does leaves me less than full of awe and wonder, even when she’s being naughty.

“I would never have guessed she’d be so affectionate, she loves people – the syndrome comes with as many gifts as challenges, she loves human company so much. When you first get the diagnosis you don’t dare dream, then you realise your child is going to have a fulfilling life and bring joy to others and herself...”

Wolf-Hirschhorn Syndrome is caused by a deletion of genetic material near the end of the short arm of chromosome 4 of the 23 chromosomes making up the human genome. Chromosome 4 spans 186 million base pairs and represents 6-6.5 per cent of the total DNA in cells.

Every child with the syndrome is unique, depending on the number of deletions. The condition is not inherited, says Tom, who is also father to an unaffected six-year-old son.

“The condition was identified in the 1960s,” he explains. “There’s been lots of research since the 1980s. It’s not fully understood – Julia’s condition could have been much worse, for instance many sufferers have heart conditions. In more than 90 per cent of cases it’s not inherited, it’s a de novo deletion, so very early on in the pregnancy – probably days or weeks – 50 genes from the short arm of chromosome 4, ie one part of one chromosome had 50 genes missing. It could be hundreds for others with the syndrome.

“They don’t entirely understand how the symptoms line up with the disease – it’s not just a number, it’s where those genes are missing from.”

But with today’ advances in science, could there be a solution on the way?

“We’re not looking or wanting for Julia to be cured,” says Tom. “I don’t want to live in a world where there are no children like Julia, I can see the amazing light they bring so, yes, the science is important but we need to look in the mirror and ask: ‘Is there a need for us to change?’

“It’s an outrage so many mothers have to give up working to care for their child, and the postcode lottery for teaching support. Life is difficult enough without bureaucratic wrangles and we’ve had enough of them.

“I also believe Julia will have a fulfilling life and other children and adults will benefit from her being here. So it’s a balancing act.

“Probably like everyone else our knowledge of rare syndromes was next to nothing before this happened. I’d never heard of a genetic deletion, so a lot of this is about removing fear, and that means tackling misunderstanding and ignorance.”

‘A Journey of Hope’, which features the Almeroth-Williams family, will be screened at 9.45am at RAREfest20 on Saturday. The event is organised by the Cambridge Rare Disease Network. Free registration available here.