Shocking mistreatment of mother in rare disease case

Shocking mistreatment of mother in rare disease case

By Mike Scialom-
Published: 21:26, 09 December 2018 | Updated: 21:29, 09 December 2018
Unique Feet at RAREfest
UNIQUEfeet at RAREfest
Rebecca Pender came from Glasgow to share her story at the recent RAREfest event, a world-first rare disease conference open to the public.

Her talk at the Guildhall was tremendously moving. In the Q&A, an audience member started crying as she tried to thank Rebecca for sharing with her story in a public place.

“I get strength from people like you,” she said. Another member of the public said joyously: “We’ve found our tribe.”

The theme of sharing stories that were previously out of the public eye was almost universal at RAREfest. Many families have suffered s they sought treatments – 95 per cent of rare diseases have not one single approved drug treatment. Even getting a diagnosis proved an Olympian task for Rebecca’s daughter, Hannah.

Afterwards I asked Rebecca, pictured, about her story.

RAREfest 2018 at the Guidlhall - Rebecca Pender from Glasgow consoles upset audience member
RAREfest 2018 at the Guidlhall – Rebecca Pender from Glasgow consoles upset audience member
“Yes I made a member of the audience cry and she made me cry right back!” she said. Her daughter Hannah has 8p inverted duplication/deletion syndrome. This rare chromosomal anomaly is characterised clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia/progressive hypertonia and severe orthopedic problems.

But perhaps worse than the disorder was the official response to it. “Hannah was nearly two when she was diagnosed,” explained Rebecca, “but I fought for her when she was born, she had a sacral dimple and an incredible cry, unlike anything I’d ever heard, very high-pitched.

“She was flat-footed and her toes overlapped and folded in on each other. She couldn’t hold her head up at six months. At 14 months she was still not sitting up so she had very, very delayed milestones.

“Nobody wanted to know. I was an over-protective mother [the authorities said], I was making things up. I had Munchausen by proxy, they said – that I was making up mental health problems, which then caused me to have mental health problems.

“I watched There She Goes, on BBC4 by Shaun Pye, that was about a child with a rare disease, David Tennant plays the dad. It was like a common story. Then, when we did get believed, we have to get her DLA (Disability Living Allowance) renewed annually as the condition ‘might change’.

Daniel Zeichner Dame Mary Archer at RAREfest
Daniel Zeichner Dame Mary Archer at RAREfest
“It was a battle to get her into a school. We were homeless for 13 months as we were renting from a rogue landlord, we were made homeless 24 hours after my third daughter was born, and the council couldn’t find us somewhere suitable.

“It’s a constant battle to get services, to be included, and challenge people’s perception of her to be included.

“If I can come to events like this and speak publicly it can stop future families from going through what we have had to go through. It’s about changing the narrative, so it’s putting the person at the centre of the care process and getting rid of the hierarchy. Yes doctors have experience, but so do we. We need the children to survive and thrive. Hannah nearly dies as when she was poorly the doctors said it was viral and gave her Calpol. Situations like these need a proactive response not a reaction. If Hannah had had antibiotics it would have cost a lot less than 10 days in hospital – five of them in an emergency ward.”

CamRARE collection at RAREfest
CamRARE at RAREfest
RAREfest brings life sciences to the Guildhall

RAREfest brings life sciences to the Guildhall

By Mike Scialom-
Published: 16:52, 06 December 2018 | Updated: 17:31, 06 December 2018
Heartwarming, uplifting and informative, the world’s first-ever festival on rare diseases drew huge crowds to the Guildhall at the weekend (November 30/December 1).

RAREfest was organised by Cambridge Rare Disease Network (CamRARE) to “engage, educate and empower” those with rare diseases, their families, researchers, clinicians and support groups.

The event opened on Friday evening with introductions by Alastair Kent, OBE, the former director of Genetic Alliance UK.

“A few years ago it would not have been possible to have filled a hall like this,” he told the 200 attendees. “There are now 8,000 rare diseases affecting 3.5million people in the UK at some point in their lives. But it’s not just about a medical condition, we’re going to see some real stars to make us aware of the way that society can be changed for the better.”

First up was Abbi Brown, a CamRARE founder and Cambridge graduate born with osteogenesis imperfecta (OI), a genetic disorder which means her bones are extremely fragile and prone to breaks or fractures. Abbi related her experiences as a cox while a student, and described how easily her bones break. She did this with a sense of humour which has seen her perform at the Edinburgh Fringe.

Abbi was followed by a troupe of dancers, the children’s dance group Unique Feet. I wasn’t the only one to have a tear in my eye while watching their performance, they were so brave and powerful. In the interval I spoke with one of the dancers, Chloe King, aged 13, from Bar Hill, who was there with mum Jackie and dad Paul. Chloe has dyskerotosis congenita – a weakened immune system that doesn’t fight off infection. Like every rare disease sufferer here they and/or their families are very clued up about the mechanics of the disorder. Jackie explains that Chloe has a dysfunction of the telomere.

“The telomere is at the end of a chromosome and it’s like a shoelace, and the lace frays at the end and that’s the cells misbehaving.”

“My bone marrow gets low,” adds Chloe. “Half way through the day I get exhausted.”

Treatment options are increasing. Research is aimed at getting the body to restore the bone marrow more efficiently. The Kings are a lovely family and, like so many of those present, trying to imagine what they must have been through makes me tear up again.

RAREfest 2018 at the Guidlhall: From left are Adam Pearson, Dagmar Bennett, Paul King, Chloe King, 13, and Jackie King. Picture: Mike Scialom
RAREfest 2018 at the Guidlhall: From left are Adam Pearson, Dagmar Bennett, Paul King, Chloe King, 13, and Jackie King. Picture: Mike Scialom
Next on stage are Adam Pearson and Dagmar Bennett. Adam is a campaigner who suffers from neurofibromatosis, which causes excess skin to grow, especially but not exclusively facially. “It just happens,” he says of his condition. Dagmar is an artist who produced a sculpture of Adam as part of a course at the Centre for Appearance Research in Bristol: the work took seven months.

“I wanted to show Adam’s character,” she told the audience. “I was trying to get into the psychology, to use art to break down barriers.”

“We are bombarded every day by media images of how we should look,” noted Adam. “For people with disfigurement it can be absolutely paralysing.”

He has devoted his life to changing opinions. “As a campaigner I believe everything you do should serve a greater purpose.”

Adam and Dagmar’s powerful collective voice was followed James Risdon, who plays recorder. James’ rare eye condition, Leber’s Congenital Amaurosis, means he learns his repertoire from Braille. His music, with piano accompaniment, is accomplished and mesmerising, and is followed by another powerful voice, Michael McGrath. Michael is the first person to have been to both the North and South Poles despite having limb girdle muscular dystrophy (MD). Just as his body started shutting down on him, he raised his game and did things people said were impossible. His charity, Muscle Help Foundation, highlights what fighters many people with rare diseases are: Michael’s was an uplifting, life-affirming talk on an emotional and enchanting evening.

Saturday’s events were no less astounding, with talks about the incredible progress the medical sector is making to cure many rare diseases as new genomic data is integrated into medical practice. The main hall became a forum for stalls run by companies including Horizon Discovery, Abcam, No Isolation, The Wellcome MRC Cambridge Stem Cell Institute, LifeArc (the new name for Medical Research Council Technology), CamRARE, Heterogeneous, Pfizer and Microsoft.

RAREfest 2018 at the Guidlhall: BBC4 camerawoman Ila Mehrotra
RAREfest 2018 at the Guidlhall: BBC4 camerawoman Ila Mehrotra
I bumped into a BBC4 camerawoman, Ila Mehrotra, who’s part of a crew covering the festival, which had 600 visitors during the day.

“I’m working on a film about the history of genetics and particularly the context of eugenics,” said Ila.

Ila says eugenics started in the early 20th century before being highjacked by the Nazis in the 1930s.

“Eugenics, historically, was gene selection,” she said. “It was very much the preservation of the ‘most fit race’ which in the 1930s when it came out was the white race and scientists washed their hands of it completely.

“We’re looking at the positive aspects of how it can help people. We have Adam (Pearson) as a presenter and a black woman so we’re looking at it as a humane programme – it’s only just begun.”

Friday evening, RAREfest 2018 at the Guidlhall
Friday evening, RAREfest 2018 at the Guidlhall
Visitors are offered headphones to hear the talks while walking round the stalls. There’s a film festival which is packed out. The speakers I hear are wonderful, and the questions are very well informed. So who else is listening?

“Lots of people we’ve spoken to today are passers-by,” says Harriet Gridley, head of business development UK at No Isolation, a Norwegian firm which produces a robot, AV1, which can help children learn at home if they condition prevents them going to school. “They’re out doing their Christmas shopping. That’s wonderful because it means the topic is broadening out to the wider community.”

“It’s a mix of professionals and members of the public,” said architect Vaila Morrison, whose daughter’s rare disease is making her reconsider the built environment.

“It’s been brilliant, what a brilliant day,” said Abcam co-founder and deputy chairman Jonathan Milner later in the afternoon. Dr Milner was also at Dr Anna Middleton’s talk. Dr Middleton isfounder and Head of Society and Ethics Research at Connecting Science in the Wellcome Genome Campus. Her work has addressed the issue of how genomic data should be made available. So far the sector seems to consider it acceptable that a person’s genomic data should be made available to all research organisations, but the recent work by a Chinese scientist – gene-diting an embroy which was then born – has highlighted a difference of views. People are expected to be donating their genomic data to science but the industry is seekign ways to charge for the use they make of it. Intriguingly, differentnations see this issue in different lights. Dr Middleton’s study showed that Russians and Portuguese are happy for all genetic information to be shared for free: Britons, Australians and Germans, on the other hand, are less keen. The public is entitled to ask what would the information be used for? We’ve all seen what happened with Facebook, where an apparently innocuous sharing platform turned out to have a very dark underbelly. The issue of trust is crucial in what happens next, but one thing’s for sure: those attending this ground-breaking festival have found their tribe, and the support networks they need are now being built – all thanks to CamRARE.

The AV1 robot is designed and built by Norwegian firm N oIsolation. It assists children with learning difficulties and can act as a companion to home-bound rare disease sufferers. Picture: Mike Scialom
The AV1 robot is designed and built by Norwegian firm No Isolation. It assists children with learning difficulties and can act as a companion to home-bound rare disease sufferers. Picture: Mike Scialom
Dr Sarah Leiter, a junior doctor Addenbrooke’s Hospital, lives with a rare condition – albinism – herself. She said: “RareFest proved a unique opportunity to educate the general public about rare disease but also to bring together local stakeholders. We hope that through this work we will improve the lives of those with rare disease.”

Jo Balfour, RAREfest and CamRARE events manager, said: “Our RAREfest launch event, with performances by those living with rare conditions, was widely applauded by those attending for its diversity, inclusion and for breaking down barriers. We’ve be delighted by the positive feedback on our main exhibition which exhibitors, speakers and attendees alike applauded for its excellent networking opportunities and for drawing in large numbers of the general public. The buzz and excitement over the weekend has been fabulous!”

The hope now is that RAREfest will be an annual event: the weekend certainly showed the demand is there.

Ann Middleton is head of society and ethics research, Connecting Science, Wellcome Genome Campus
Ann Middleton is head of society and ethics research, Connecting Science, Wellcome Genome Campus