This is a brand new event run by Cambridge Rare Disease Network to try and broaden awareness and discussion around rare conditions, celebrate diversity, showcase research, medicine, science and technology…. and inclusive design!
Cambridge is actually our local city, and it’s amazing to find ourselves in the heart of one of the most active hubs of genetic research and hi-tech industry! In the past, CRDN have run rare disease conferences for the experts in the field, but this year it’s all about reaching a wider audience and bringing different perspectives together! From genetic researchers to rare people (like my J), from medical professionals to patients and families….!
And it’s a free event!
A launch evening on Friday 30th November and an all day festival on Saturday 1st December at the Guildhall in Cambridge (as it’s seated you do have to book tickets in advance for the Friday evening segment) and you can find out lots more info on the CRDN website here: #RAREfest
J and I are going to be involved in various different ways throughout the festival!
The first thing is that J* has become a #RAREambassador for the #RAREsolutions school’s competition, running parallel with the festival! The competition is open to all secondary and sixth form students throughout the UK to inspire the next generation of scientists, designers and engineers to think inclusive!
There are three challenges which require a design solution, and you can view them all and enter here (the closing date has been extended to 12pm Monday 15th November so there’s still time if you have an awesome idea to share!): #RAREsolutions
One of the challenges is set by us, and is based around an issue very close to our hearts, and that is, inclusive playground equipment (or lack of choice thereof!). This is our video (didn’t the kids did so well!?)…. https://youtu.be/Y1quMHkrwlg
The second thing is a performance on launch night!
This year J (well our whole family really!), have become members of Unique Feet, CRDN’s group for families of children with rare conditions. It’s been lovely to meet more children and families in our area, who are living with the challenges of rare disease, and we’ve enjoyed taking part in various fun inclusive activities, from horse riding to trampolining!
To help illustrate the amazing spectrum of diversity that makes up the rare community, the children have been working with Studio Wayne McGregor to create a dance performance that will form part of the launch night programme!
And finally, I’m going to be taking a stand at the festival on Saturday (1st December), as The Inclusive Home, to talk all things inclusive design and to highlight the need to be mindful of the social model of disability… particularly in the context of the (amazing, yet slightly scary) super speedy advances in genetic research!
Do come over and say hello if you can make it!
*(I refer to J & W by their middle initials most of the time because, other than me, all my family have first initial E and it gives her and her brother a little less searchability on the web – although of course I do tend to blow their cover from time to time!)
A family tragedy has prompted Kay Parkinson, founder of the rare disease charity Alstrom Syndrome UK, to create a conference encouraging joined-up thinking to help improve treatments, care and services for people with rare diseases. pharmaphorum spoke to her ahead of RAREfest18 to find out more.
On November 30th and December 1st this year, patients, clinicians, scientists and researchers will gather in Cambridge for a unique event: RAREfest18, a conference that aims to bring people together to improve the lives of those living with rare diseases.
Although rare diseases are classed as something that affects less than one in 2,000 people, it’s not that uncommon to have a rare disease. Around one in 17 people are affected by a rare disease, and about 80% of the 6,000 – 8,000 known rare diseases are genetically derived.
That’s why Kay Parkinson, who lost two children to the ultra-rare disease Alstrom Syndrome, is trying to bring influencers together at RAREfest18 – as interactions between people from a range of different backgrounds could prove to be game-changing in the world of rare disease treatments.
In an interview with pharmaphorum, Parkinson gave an example from personal experience – when she was attending a rare disease conference she met the CEO of the Canadian pharma company Prometic.
This chance conversation resulted Prometic trialling its PBI-4050, also used in idiopathic pulmonary fibrosis and other diseases involving scarring, in Alstrom’s Syndrome.
Encouraging data from a UK-based open-label phase 2 trial of PBI-4050 in Alstrom’s Syndrome were presented at the International Liver Congress, and the European Association for the Study of the Liver, earlier this year.
There is now talk of expanding the trial to other countries, and in order to encourage this kind of lateral thinking, Parkinson launched the first RAREfest in 2015.
Parkinson said: “When I started a charity we were warned off pharma, but they turned into our greatest allies.”
The event has already attracted speakers including the late professor Stephen Hawking who had the rare disease amyotrophic lateral sclerosis, biotech entrepreneur Dr Andy Richards, and Dr Segolene Ayme, emeritus director of research at the French Institute of Health and Medical Research (INSERM).
The goal for Parkinson is to take people out of their “siloes” and thinking creatively, and to raise awareness about rare diseases among the general public.
She said: “Much of the information and summits are very siloed. You see the same people all the time. We wanted to reach the general public.”
“We felt that there was not a nucleus place for the pharma industry to show what it is achieving, and charities to show what they need.”
While Parkinson is full of praise for the way pharma has supported rare disease patients, she says that there is a pressing need for more awareness amongst doctors
While specialisation in the medical profession can help with more common diseases, Parkinson says clinicians often struggle to look at patients in a holistic manner and fail to spot that a group of different symptoms are caused by a rare disease.
For example, Alstrom Syndrome is characterised by retinal degeneration, nystagmus (wobbly eyes), sensitivity to light, loss of hearing, obesity and insulin resistance.
But other features may include kidney and liver dysfunction, type 2 diabetes, fatty substances in the blood, poor cardiac function, and bladder and bowel problems.
Symptoms may develop at different stages and not everyone is affected by all of them, and even amongst siblings the symptoms can vary.
It would be easy for a clinician to treat any one of these symptoms – but to look at them together and make a correct diagnosis of Alstrom’s Syndrome is much more challenging.
This proved to be an issue while she was trying to get a diagnosis for her children, Matthew and Charlotte, who sadly died in their twenties as a result of the disease.
Parkinson said: “The individual components were diagnosed. They [clinicians] did not pick up heart disease, nobody put it all together. An eye specialist is not going to look at hearing loss. The whole thinking for rare disease needs to change.”
Patients with rare diseases are more likely to try and interact directly with pharma, or an expert in the field to try and find answers, she added.
“For rare diseases, you can’t pin your hopes on doctors, you pin your hopes on somebody developing something that’s not even there,” said Parkinson.
Rewriting the code
With so many rare diseases caused by faults in the genetic code, there is hope that technology like CRISPR offer the potential to treat the underlying cause of the disease, rewriting a patient’s genetic code to produce a cure.
There are already gene therapies on the market that use different techniques to overcome genetic diseases.
Parkinson hopes that these could lead to treatments for diseases such as Alstrom’s Syndrome but is realistic about the speed of progress.
“I hope it (CRISPR) may become an acceptable treatment. Costs will be involved, and a lot will depend on the funds going into it.”
“There will be lots of barriers to overcome. There are going to be great upsets before there are real breakthroughs. They don’t act like other diseases.”
“We have to remain hopeful as there are so few alternatives, I think huge challenges are still there as when you start intervening in humans it may take time to fully realise the implications.”
In the short term, Parkinson is hoping to drum up support, both financially and from increased awareness, for RAREfest.
While some of the events organised are based on arts and culture, Parkinson hopes they will foster an all-important dialogue between patients, doctors, pharma and wider society to help find new treatments or cures and improve care.
With organisations such as EURORDIS, the European umbrella group for a range of rare disease patient groups, and the Genetic Alliance working in a similar role at a national level in the UK, Parkinson is optimistic that progress will be made.
“Rare diseases are moving up the agenda, at least people are talking about them,” Parkinson said.