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Newborn Screening- A Primer with Dr Lucy McKay, CEO of Medics4RareDiseases

Newborn Screening- A Primer with Dr Lucy McKay, CEO of Medics4RareDiseases

by | Oct 11, 2023 | Education, Summit, Treatments

What is Newborn Screening? Who is screened, and for which conditions? What is screening’s role in the wider provision of care for rare diseases? Among a panel of people with different expertise, Lucy will facilitate a diversely informed discussion centring around the UK Newborn Screening Programme at RAREsummit23. As Lucy explains, this NHS service is available to everyone in the UK and has a very high uptake from the general population. However, outside of specific arenas, it is seldom talked about.

 

Dr Lucy McKay

I sat down with Dr Lucy McKay, CEO of Medics4RareDiseases, to talk about her journey into the rare disease community and about Newborn Screening. Having spent a significant portion of her years as a junior doctor in a Paediatric setting, Lucy has hands-on experience with the Newborn Screening process in the UK. Lucy also has a dual perspective on Newborn Screening, having grown up alongside a patient group that she then went on to volunteer and work for in a number of roles. Lucy’s brother died before she was born because of a rare genetic metabolic condition which now has a treatment but is still not screened for in newborns.

What is Newborn Screening? Who is screened, and for which conditions? What is screening’s role in the wider provision of care for rare diseases? Among a panel of people with different expertise, Lucy will facilitate a diversely informed discussion centring around the UK Newborn Screening Programme at RAREsummit23. As Lucy explains, this NHS service is available to everyone in the UK and has a very high uptake from the general population. However, outside of specific arenas, it is seldom talked about, especially in comparison to topics such as whole genome sequencing or approval of medications for rare diseases.

The following write-up of our conversation acts as a primer for those attending the panel discussion, generating reflections, emotions, and questions to bring to the table.

Lucy McKay

“It is time for Newborn Screening to be examined in a more open forum, in a transparent dialogue with the larger rare disease community and beyond. Are we all talking about the same thing, or is there an assumed level of knowledge, and we need to bring more people into the discussions?”

Newborn Screening in the UK

When people talk about “newborn screening”, they are more often than not referring to the Blood Spot Test (or Guthrie Test) which is offered to all neonates on the fifth day of life. The Blood Spot Test is just one of a number of screening tests that are performed at birth as part of the larger NHS Newborn Screening Programme.

Lucy explained that, simply put, screening is a way to identify when an apparently asymptomatic individual may be at risk of a specific condition. Despite its name, it is not a test as such because it does not serve to diagnose a disease. Rather,it  indicates if a condition may be present before a person expresses any symptoms. It is helpful to think of it as the beginning step on a pathway to diagnosis if the result indicates that a specific condition may be present. In neonates, the Blood Spot Test is one of three screening tests included in the Newborn Screening Programme, alongside a hearing test, and a physical examination.

Early on, Lucy raised the concern that a lot of attention is paid to only this element of the Newborn Screening Programme. Having performed countless “baby checks” in a post-natal department she believes that the physical examination could be seen as one of the earliest opportunities to pick up early signs of an underlying condition. Especially as the physical examination is then repeated in infancy at 6-8 weeks of age so follow up is already built into the NHS system.

Parents and legal guardians provide consent for newborn screening and uptake of the Programme is approximately 96% of all births. The Blood Spot Test involves taking a small blood sample from the soft part of the heel of the foot. The healthcare professional will prick the neonate’s heel with a lancet similar to those used for blood glucose tests. They will then transfer four drops of blood ontoa  special card, called a blood spot card. The healthcare professional must be well-trained in performing the procedure because there are specific regulations on the size and density of the blood drop. 

In the UK neonates are screened for nine rare genetic conditions, including Sickle Cell Disease, Cystic Fibrosis, Congenital Hypothyroidism, some Inherited Metabolic Diseases, and Severe Combined Immunodeficiency. Most babies won’t have a positive screening result for any of these conditions, but for those who do the benefits of screening can be enormous. Screening allows for prompt follow up with diagnostic tests ensuring that these diseases are identified early. This is vitally important for those conditions which have the best outcome if they are treated or appropriately managed before the child shows any symptoms.

Lucy described one benefit of screening for rare genetic conditions through the Newborn Screening Programme:

“Screening provides a unique avenue into inclusive healthcare because it is not subject to human factors. No matter your socioeconomic background, the language you speak, the area you live in, your baby will be offered the Newborn Screening.

As Newborn Screening has an exceptionally high uptake rate for those conditions, included diagnosis is far less likely to be influenced by social and health inequalities. This is not only beneficial for patients and families but for designing healthcare services and treatments based on knowledge of the real patient population, not just those we know about.”

Image depicts the small hand of a newborn held by the hand of an adult

Starting the Conversation

However, the concept and process of newborn screening is not without its challenges. One challenge has become increasingly pressing: due to 20 years of health science innovation we are able to diagnose and treat many more rare conditions than are currently being screened for. Therefore the field of rare genetic conditions has changed dramatically in a relatively short period of time and NHS services, including the Newborn Screening Programme could be seen as having to play catch up in a recently difficult health and economic climate.

It is important that the general public understands what the purpose of newborn screening is, what data is collected, and how it will be used, in order to give informed consent on behalf of a child. However unless you have been impacted by a rare condition yourself or through a loved one it may be difficult to fully grasp what the implication of screening, and especially a positive result will be. 

Then there are those who have a deep understanding of what the implications are of not screening for certain diseases – those who live with, care for someone or have lost someone to such a condition. With knowledge of the perils of late diagnosis when treatment it is only natural that groups are asking about how different conditions are considered for inclusion in the Blood Spot Test.

“I have seen firsthand the potential of new therapies to transform an individual’s life. However, we have to ask ourselves: why invest huge efforts and money on treatments, which can make a life-saving or life-changing difference to the lives of those with rare diseases if we are not optimising the delivery of them through screening?”

We hope you will join Lucy at RareSummit23, and the rest of the panel, to learn about the basics of Newborn Screening in the UK and hear the perspectives from different experts on this much talked about (but not universally well understood) subject.

There are just a few tickets left – get yours today.

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Joe Clymer – Supplementing The Medical School Curriculum One Rare Disease at a Time

Joe Clymer – Supplementing The Medical School Curriculum One Rare Disease at a Time

by | Sep 23, 2023 | Community, Education, Unique Feet

Joe Clymer is a 5th-year medical student. Over the summer of 2023, he completed a 75-hour internship with the Cambridge Rare Disease Network. This internship aimed to identify common problems that families with rare diseases face and create a set of resources to help. Joe describes his inspiration, findings, and future plans in the following blog.

 

What I did during my internship

I spent about 10 hours speaking to families and reading about common problems. I spent the next 65 hours researching what they told me in detail and drawing on my clinical knowledge to find new solutions.

I have just finished five years of university, encompassing four years of medical school and one year of specialised Emergency medicine (EM) teaching. Before starting at CamRare, I spent my days in the back of ambulances or diagnosing patients in the emergency department. My year in EM was high-octane and exciting and not full of older adults falling over or teenagers with the flu. So why, on my summer off, did I make the change to work with a rare disease charity? The short answer is that I believed in what they wanted to achieve. The long answer is to read the rest of this blog.

Image shows a young male with light brown hair raising his hand 'hello' and dressed in a diving suit.

Why I chose CamRare

I started at Keele University at the age of 18. I was fortunate to get in first time due to my preparation, dedication to medicine and a healthy amount of luck. When I arrived, I thought I knew I had to learn the science and treat patients. How wrong I was. As I later learned, good medicine is about holistically treating the individual, not the disease. It’s about biology, psychology and sociology. I also learned how societal inequalities, like race and wealth, affect health outcomes.

Let me give you an example. In Stoke on Trent, the city I trained in, there is an 8-year difference in life expectancy between the rich and the poor: same city, GPs, and NHS services. The only difference is finance. Throughout medical school, I became more aware that these differences exist. I came across the CamRare internship, and by working with them, we aimed to provide free information to help make healthcare more equitable.

CamRare has a community called the Unique Feet (UF) Community. They are a group of families whose children have rare diseases and do fun activities together so their children can have a more normal life. My job was interviewing parents, finding out their financial and social problems, and working with the community to find solutions. I have made a resources page on different ways to get funding for children with rare diseases, which may directly benefit their children’s care. I learned in medical school that social and psychological factors are as important as medical treatment in managing chronic diseases. CamRare is a charity that recognises this and is working to assist.

As a medical student, I have a very narrow skill set, including communication skills, empathy, and an understanding of science. I possess a strong and thorough comprehension of the shortcomings of the NHS. Fortunately, these skills meant I was perfect for this internship. Our NHS is excellent at providing life-saving care but is less excellent at providing long-term care to patients with chronic diseases; try getting a GP appointment. I understand rare diseases and the NHS, so I was ideally placed to discuss problems and potential solutions around health and social care.

I also chose to work with CamRare because of their amazing work for parents and families with rare diseases. The Unique Feet project, described below, provides a community and care for people who would otherwise be isolated. But unlike most charities, CamRare doesn’t just do one thing; they also invest in raising awareness amongst doctors and research, putting patients in direct contact with industry and hosting an annual research summit to discuss ideas.

Who are the Unique Feet (UF) community

Since its birth in 2016, community and problem-solving have been at the group’s core. Mums meet for coffee, and parents share information about the benefits of child genetic testing by exchanging consultants’ phone numbers. (I’m unsure how the consultants feel about this, but if children didn’t wait six months for basic tests, their parents might be more patient). Suppose you have a problem with your child’s rare disease. Who better to ask than a group who’ve been through this before? Helping each other is at this group’s core, so I had no trouble getting interviews with these busy parents so they could help me type up their knowledge for the website.

CamRare is a particularly good support group because rare diseases aren’t that rare. 1/17 people will have a rare disease, with most starting in childhood. But if only five people in the country have the same disease, and you have no idea where they are, where do you go for support? The UF team arrange 2-6 activities a month for families with rare and undiagnosed diseases. With children and parents coming and mixing, it turned into a support group over the years. Parents shared stories about their problems, and others listened and gave advice. New parents joining had new problems discussed informally whilst climbing and pond dipping, and together, a community was built that advised and helped each other.

To further develop this community, siblings come to activities. It can be challenging for siblings of disabled children; they often get less attention and have more responsibility. At UF, children with and without disabilities play and interact together, and the parents love it because their children can be children in a free, non-judgmental space. What started as play for children has turned into a supportive community that is irreplaceable for parents.

 

Parenting a child with a rare disease is difficult. Many parents say they have felt isolated and question their parenting ability. But by attending events and speaking to other parents in the same position, the supportive community helps to listen and get through situations they have all gone through. I decided to look into support for parents and used quotes from our UF members to signpost parents to mental health services. It’s hard to accept support, but hopefully, by formalising it online so people know that others have gone through the same things, parents will be more likely to reach out.

What I learned

My first job was to sit down and interview the parents in the UF community. They would tell me the common challenges they faced and how they solved them. I would then take this information, read around the subject, and present it as a fact sheet on the website. These interviews were tough. I asked them to discuss their feeling about the worst days of their lives. We discussed mental health and the fear of not knowing if your child would survive. In my 8 hours of interviews, I saw what it might be like caring for these children and developed a deep admiration for the parents I spoke to. They’d battled through a difficult school system, nightmare social services visits, long delays on appointments, difficult-to-understand doctors and a sheer volume of hospital appointments that the best secretaries in the world would struggle to keep up with.

All of this went on for years, yet every one of them had volunteered their own time in their busy lives to sit and talk to me so I could share their information and perhaps make things easier for the next family; I believe that is the mark of a community that cares. The parents taught me a lot, and with their knowledge, I could move forward to researching their problems.

These interviews gave me invaluable exposure to rare diseases. Rare diseases often present complex medical challenges, and these interviews exposed me to a diverse range of conditions. This exposure helps broaden my diagnostic and problem-solving skills, as I have encountered conditions not covered extensively in my medical curriculum.

I also developed my communication skills. Families face unique emotional and psychological burdens due to the rarity of the condition and the challenges in obtaining accurate diagnoses and appropriate treatments. Interacting with these families enhanced my ability to communicate with empathy and sensitivity, skills that are crucial for all medical professionals. I was most grateful for the openness and honesty the UF families gave me.

From the interviews, I identified six topics parents would like more information on and set about gathering information on them. One area that didn’t make it in but deserves an honourable mention was the theme of fighting. All the parents emphasised the importance of fighting for their child’s needs. I heard many stories about appealing educational health care plans and disabled living allowances. These parents pointed out that these benefits and support are out there but not easy to find, and it can be hard to get what you deserve.

“Whilst researching solutions to common problems, I realised rare diseases often lack established treatment protocols, and I saw the importance of understanding the needs of UF community. It made me reflect on how far we still have to go in modern medicine to design a system that is equitable to all. I also realised how important industry investment and research into rare diseases is to finding treatment for these diseases.”

My future

CamRARE offered me an amazing experience to engage thoroughly and understand rare diseases, and it’s one that I shall carry into my medical career. Beyond clinical skills, I believe it nurtured empathy, research acumen, advocacy skills, and a profound interest in the rare community. These benefits will help me shape into a well-rounded, compassionate, and proactive medical professional who is now better prepared to address the unique challenges presented by rare diseases and make a meaningful difference in the lives of patients and their families. This internship exposed me to diverse perspectives and challenged me to confront medical uncertainties. Dealing with rare diseases teaches humility, resilience, and adaptability, essential in a medical career. It made me think about the challenges facing the provision of equitable care to a wide range of patients and their families.

I have learned many practical skills. I have learned about benefits, housing, genetic testing and education for disabled children. I have been involved in web design and building wireframes. I have been free to work independently under a boss who has trusted me to guide my project, and I have delivered on time. But most of all, I have been part of a project I believe in. Health is made up of biological, psychological and social components.

I have worked with CamRare and their community to build resources to address psychological and social support for families that need them. And if I’m a halfway decent doctor, I think I should have the biological bit sorted. 

Image shows a young male with light facial hair dressed in a protective red suit in a hospital setting. He is smiling.

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Cell and Gene Therapies Transform the Rare Disease Horizon – Are We Ready to Deliver Advanced Therapies? The Perspective of Sheela Upadhyaya, a Rare Disease Consultant

Cell and Gene Therapies Transform the Rare Disease Horizon – Are We Ready to Deliver Advanced Therapies? The Perspective of Sheela Upadhyaya, a Rare Disease Consultant

by | Sep 21, 2023 | Collaboration, Drugs and pharmaceuticals, Genomics, Healthcare, Summit

Cell and gene therapies transform the rare disease horizon. They hold the power to transform patient’s lives. Are we ready to deliver Advanced Therapies? Sheela Upadhyaya is an independent rare disease consultant who has eighteen years of experience in the rare disease arena. She discusses the challenges and opportunities involved, expressing that collaboration is the key to helping deliver them synergistically.

 

Sheela Upadhyaya

Sheela Upadhyaya, an Independent Rare Disease Consultant, spends her days liaising with all parties that form the rare disease arena. She has had exposure to every nook of the rare disease community from patients and their supporting organisations, highly skilled clinicians, policymakers, and pharmaceutical companies. Her mission involves anything and everything which supports and cares for those with rare diseases, aiming to better their lives.

Sheela is immensely equipped for this endeavour, having worn many hats. She has spent the last twenty-five years in the life sciences industry. Her journey into the rare disease community came to fruition by fluke when she applied to work a role commissioning rare disease service, primarily in Genetics and Metabolic, for the NHS. Sheela then moved on to lead the NICE Highly Specialised Technology Programme at NICE. The programme evaluates medicines and technologies for very rare conditions. Sheela was also instrumental in delivering a strategic response for NICE against the Rare Disease Framework.

Sheela quickly learned that rare diseases are immensely underserved, recognising a real need for listening to the needs of rare disease patients and their lived experiences. This need for empathy, transparency, and uniting perspectives inspired her to continue championing the rare disease community, to which she has now contributed for the last eighteen years.

Sheela is shown from the shoulders up wearing a white shirt. She has dark waved hair to the shoulders and wears dark red lipstick.

“I pride myself in listening as much as I can to the needs of patients, their supporters, carers, and family members, so I can reflect that back in what I aim to deliver. But part of my role is also explaining why some things can’t happen.”

The Advancement of Rare Disease Therapies

Throughout her time working with the rare disease community, Sheela has witnessed the evolution of Advanced Therapies, or advanced therapeutics, which hold the power to transform the rare disease horizon. Advanced Therapies include interventions such as cell or gene therapies, which alter the molecular makeup of those with rare diseases, changing the expression or course of their condition. They focus on correcting the root cause of the disease as opposed to treating the symptoms. For many with rare diseases, they can transform what this means for day-to-day life and their future.

In the last five years, collaborative teams have made huge advances in innovating and successfully delivering these treatments to the rare diseases community. 2022 was a landmark year for such interventions, with Upstaza for AADC deficiency and Roctavian for Haemophilia A making their way into healthcare provisions. However, as the gene therapy field continues to advance, significant challenges remain, from their safety and efficacy to their accessibility and the suite of logistical considerations involved in their delivery to their recipients.

The healthcare system isn’t always ready to receive new therapies with complex storage, staffing, and infrastructural issues which may be unique to every new treatment, at each step. The healthcare system must shift and adapt to this each time, which is a huge challenge.

“To give an analogy concerning a single issue, storage: how many fridges is a hospital expected to have for each of these therapies, which may each have different storage requirements, which might only be for one or two patients?”

Collaborating for Successful Delivery

Though gene and cell therapies have become available to small, select groups of rare disease patients, 95% of rare diseases still have no therapies available to them. Sheela highlights how meaningful collaboration with patients is instrumental to developing new therapies and setting realistic expectations for how and why pre-existing therapies are delayed, aren’t widely accessible, or are not affordable. In short, “it is not as easy as it sounds, despite many parties with the same good intentions working really hard to deliver them for patients.”

As options for Advanced Therapies develop, the pertinence of these pressing challenges expands with them. Sheela expressed how collaboration between all stakeholders is necessary:

“For example, in returning to the fridge analogy, it is essential for pharmaceutical developers and manufacturers to consider the relevant infrastructural considerations. Without this approach, it would create unnecessary inefficiency in a healthcare system that strives to be as efficient as possible and whose efficiency is instrumental in delivering successful patient care. It goes both ways – those managing healthcare provisions must be open-minded in accommodating novel delivery approaches, which may change the status quo of how things have been done.”

For patients, Sheela describes how collaboration and transparency in raising the conversation about the stark challenges in implementing advanced therapies are essential for helping patients and their supporters orient themselves through layers of decision-making, the impact on their lived experience with their condition, and how they feel about these prospects.

 

Picture shows DNA lit up in bright colours on a dark background

Bringing Stakeholders Together

At Raresummit23, Sheela, alongside CamRARE Trustee, Emma Green, will host a panel discussion on Advanced Therapies, particularly navigating challenges and fostering collaboration for patient access. It is rare to see all stakeholders in a project represented, more so sat in physical proximity. The panel brings together an impressive wealth of experience and expertise which reflect the complex journey of Advanced Therapies’ innovation, development, delivery, and application. The panel allows for candidly discussing challenges with transparency, combining multi-stakeholder perspectives, and providing the most holistic approach to improving patient outcomes.

As Sheela knows too well, the science of Advanced Therapies is incredibly exciting, especially for patients. Collaboration is the key to helping deliver them synergistically:

“The hope is that anyone interested will leave with a better understanding of the layers of complexity: from innovation to pre-treatment activities, to their delivery in a healthcare setting, to post-treatment care. Each panel member will bring their own nuggets of insight and education we’ve not heard before.”

“While we should celebrate that progress is being made to deliver these important medicines to patients, we acknowledge that there are still challenges in the journey ahead. Our objective is to foster collaboration, raise awareness of the complexities, and pave the way for a future where patient access to Advanced Therapies is seamless, equitable, and life-changing.”

Emma Green

Trustee, CamRARE

Join Sheela, Emma, and the panel for this dynamic discussion at RARESummit23. They are solving challenges through collaboration.

Book your ticket for RARESummitt23

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I Am One Of You! Overcoming Obstacles: The Journey of a Young DeafBlind Rare Disease Disabled Scientist in the STEM Industry

I Am One Of You! Overcoming Obstacles: The Journey of a Young DeafBlind Rare Disease Disabled Scientist in the STEM Industry

by | Sep 6, 2023 | Community, Raising awareness, Summit

Can you imagine being a young, ambitious, deafblind scientist with a small handful of rare diseases and being passionate about disability advocacy, determined to make your mark in the competitive world of Science, Technology, Engineering, and Mathematics (STEM)? Then, meet Max, who is doing exactly that. This is the inspiring story of Max Fisher, who faces extraordinary challenges in their pursuit of a career in the STEM industry. Max is a cell line engineer at Revvity and co-lead of their new Disability Employee Resource Group.

 

Max Fisher

Max is DeafBlind, has Ehlers-Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, Visual Snow Syndrome, and Cold Urticaria. Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder that causes chronic pain and joint dislocations. Postural Orthostatic Tachycardia Syndrome is a neurological condition that affects Max’s heart and causes fainting, tachycardia, and palpitations. Cold Urticaria means Max is allergic to the cold- touching cold causes hives, and breathing cold air causes Max’s airway to swell up. Visual Snow Syndrome causes TV static across their entire vision, as well as light sensitivity, night blindness, and afterimages. Max is also deaf.

Max’s journey as a young deafblind disabled scientist is filled with barriers and prejudices, yet it also showcases the resilience, tenacity, and determination required to break through these obstacles and make a profound impact on the scientific community.

Image shows a person in a light brown shirt with teal slick back hair and tinted glasses from the shoulders up. They are smiling.

“I am a DeafBlind and Disabled Scientist, and I advocate for people like me with rare diseases in STEM. Life with a rare disease in STEM has been difficult. From university employment teams telling me I’d never make it into a lab, to industry assuming I can’t get into the building. In fact, my disabilities make me a better scientist, and make me better at adapting to a changing situation than others.”

Understanding the Rare Disability

Before delving into the challenges faced by this remarkable scientist, who studied Pharmacology at University, it is essential to understand the unique nature of their disability. Being both deaf and visually impaired alongside rare disease complications means that Max is presented with a set of obstacles that few can comprehend. 

As Max indicates: there is such a stigma around disability that it kept them unemployed for 3 and a half years. For 7 and a half years- throughout their undergraduate degree, postgraduate degree, and unemployment, they were told that they could not be a scientist because they are disabled. But, in their words, they are the phenomenal scientist they are because they are disabled.

Limited Job Opportunities

Despite possessing a brilliant mind and strong scientific acumen, Max notes that finding limited job opportunities in the STEM industry is normal. It took Max over three years of unemployment to realise that the issue did not lie with Max but with employers who overlooked Max’s capabilities due to preconceived notions about the capabilities of people with disabilities, especially those with multiple sensory impairments. The competitive nature of the job market compounds this issue further. Max knows this only too well:

“In an interview, everything was going well. They asked me about team working skills and leadership skills, and I talked about being a wheelchair basketball coach… “wheelchair…? basketball?” interview terminated as they “had everything they needed.”

 

Max Fisher is standing in a white lab coat alongside two colleagues. they are stood at a table presenting their science to guests of RAREfest22.

Attitudes and Prejudices

One of the most significant challenges faced by any young disabled scientist is combating the attitudes and prejudices prevalent in society. Many people hold misconceptions about the capabilities of disabled people, assuming they cannot perform at the same level as their non-disabled peers. Max is frustrated that people have closed minds, jump to conclusions and do not listen. These prejudices can result in subtle discrimination, intentional or not, which impacts confidence and self-esteem:

“I’ve actually been accused of faking/exaggerating my visual impairment because “clearly you can see if you’re a scientist, it can’t be that bad, you can’t be blind,” which comes from a fundamental misunderstanding of what deafblindness is and what visual impairment is. Similarly, deafness is for the people who say, “but we’re talking now“. I’ve experienced these prejudices in the medical field, too. I’ve been diagnosed with Cold Urticaria TWICE because “it’s so rare, you can’t have it”.

 

Overcoming Challenges

Despite the myriad of challenges, Max is not one to be easily deterred. Their journey is a testament to the resilience and strength of character that can be found in the face of adversity. Here are some ways Max has overcome the obstacles:

Advocacy and Awareness

Max has become an advocate for themselves and others with disabilities. They actively work towards raising awareness about the capabilities of disabled individuals and the need for more inclusive practices in the STEM industry. Educating others about their challenges and strengths breaks stereotypes and promotes understanding. As Max demonstrated when they first joined Revvity:

“You know, deaf people like me are everywhere. So when I started, I made a deaf awareness week newsletter that went out to the local site. As I was new, I didn’t want people to think that I was ignoring them. And I had so many people come up and say to me ‘I have hearing loss too’ or ‘I know someone with hearing loss and they really struggle with their confidence’. And I was able to have a discussion with them and reassure them that it’s totally normal. Hearing aids are normal. Tinted lenses are normal. Wheelchairs are normal. It’s all normal.”

Accessibility and Facilities

Max embraces cutting-edge adaptive technologies and develops personalised strategies to overcome the barriers they face. Moreover, the STEM industry often lacks adequate accessibility and accommodation for individuals with disabilities. Laboratories, research facilities, and workplaces may not be designed with the specific needs of deafblind and disabled scientists in mind. Simple tasks such as accessing laboratory equipment, conducting experiments, or interpreting data graphs become challenging without appropriate adjustments. Max collaborates with their labmates and the facilities team, who are very supportive.

Supportive Networks

Building a network of supportive mentors, peers, and colleagues plays a vital role in the success of Max. Supportive individuals who recognise their potential and provide encouragement help them navigate the challenges and keep their aspirations alive. As a Co-Lead for Revvity’s Disability Employee Resource Group, Max is able to drive positive change: 

“And I’m in an incredibly privileged position that I am a co-lead of our new Disability Employee Resource Group. So I have a voice where I can highlight inaccessibility in all walks of STEM, for example visually accessible slide decks. They’re fully on board, and full of encouragement. ‘Sounds awesome! Make it!’. So I made it.”

Perseverance and Determination

Max’s journey is fuelled by unwavering determination and perseverance. They do not allow setbacks to define their path, using each challenge as an opportunity to grow and learn. Max’s passion and drive enable Max to continue pushing boundaries and exceeding expectations. The final words rest with Max:

“Disabled people CAN. Just be open minded. Being disabled makes me a great scientist, and a great employee. Especially in STEM. We look at standard deviations all the time. You have to have a deviation before you can have a standard.  I want people to not panic when faced with a disabled person because we’re really cool, and we bring so much to everything we do. I don’t wish that I wasn’t disabled, because I wouldn’t get to do all this cool stuff on top of everything else. It’s awesome! Being a scientist is cool, but being a disabled scientist is cooler.”

You can learn more about Max and their perspective on navigating their youth as a disabled scientist at RARESummit23, where they will be accompanied by an expert Youth Panel.

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Dr Richard Gorman – animating the world of rare diseases

Dr Richard Gorman – animating the world of rare diseases

by | Sep 12, 2022 | RAREfest

People with rare conditions often feel their voices are lost in the wind, vying for attention against other better-known diseases. Creating memorable, unique ways of communicating stories can help rare voices get heard.

Animation, memorability, insight

With a background in social science and as a member of the haemophilia community, Dr Rich Gorman is interested in people’s lived experiences of healthcare. Together with his colleagues Bobbie Farsides and Tony Gammidge, their project pushed the boundaries of academia, showcasing the great potential in arts-based methods for creating ways to evoke patient experiences.

Securing funding from The Wellcome Trust, the project invited rare families to participate in creative mediums like stop-motion animation and collage. It revealed innovative ways that messages can travel to others through emotions, insight, and memorability.

Poignantly, it revealed the impact of taking such messages back to clinical colleagues and policy members in translating the subjective experiences of those with rare diseases. The collection of works has been showcased to Brighton and Sussex Medical students who revelled in the benefit of gaining a more holistic understanding of life with a rare disease.

“We found just how powerful and evocative the creative pieces produced by families with rare conditions can be in communicating the challenges and joys of daily life with a rare disease.”

Dr Richard Gorman

Project co-ordinator

Academia meets subjectivity

Publishing their project meant overcoming barriers in the typical confines of academia – like academic journal submission lengths and format. It highlighted the potential for arts-based methods and the challenges in expressing their impact in the scholarly sphere.

The project aimed to collaborate with participants, working with them at every step, maintaining receptive to creative mediums that were both effective and fun to partake in.

Vaila Morrison participated in the project alongside her daughter, who has KAT6A syndrome. She described the value of connecting with other rare families, sharing ideas and mutual understandings.

 “An important part of the project has been expressing feelings not just around the rare condition itself, but also those evoked from navigating processes like obtaining a diagnosis, accessing healthcare, and the challenges surrounding this.”

Vaila Morrison

Project participant

At Rarefest22, the team will share some of the project’s spectacular artistic pieces, messages, and stories. They are excited to share some of the artistic pieces that the participants have created and to give them a wider platform

The collection of works provides an innovative means to help people outside the rare disease community understand more about what life can be like with a rare disease. There will also be an exciting opportunity to come and have a go!

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Sensmart – providing multi-sensory solutions

Sensmart – providing multi-sensory solutions

by | Sep 12, 2022 | RAREfest, Community, Med tech, Technology

Aisha Purvis has spent over ten years helping others in the health and social care sector. She has witnessed first-hand the multi-faceted challenges patients faced regarding malnutrition and dehydration.

Identifying challenges

During the pandemic, Aisha was completing her university placement as a mental health nurse. It was an immensely challenging time for those working in the health and social care sector. With over ten years of experience in the industry, she had developed for a keen eye for identifying current systems that weren’t effective and a passion for suggesting solutions. 

She witnessed first-hand the multi-faceted challenges patients faced regarding malnutrition and dehydration, exacerbated by staffing issues and the heart-wrenching events of the global pandemic.

For patients that are non-verbal, explaining their choices and preferences poses a huge obstacle. Aisha knew from her work as a care home manager and research as a student that 45% of patients admitted to the hospital risk malnutrition and dehydration.

Aisha also has a daughter diagnosed with Rett syndrome, which affects her MECP2 chromosome. Her daughter struggles with neurodevelopmental, communication, and motor difficulties.

“During a regression, my daughter would eat only pickled onion space raiders. I would come home every day to my blue-tongued little girl. I couldn’t bear to see my daughter struggle like I had seen my patients.”

Aisha Purvis

Founder , Sensmart

Cambridge Rare Disease Network - Sensmart - providing multi-sensory solutions 1

Suggesting solutions

Aisha came up with the idea of Sensmart and co-founded it with Alex Chikhani. Sensmart provides a multi-sensory experience, combining scent prompts which reflect an entire meal, texture touch, tactile images, braille, and personalised voice prompts.

The product aims to help patients engage in a meaningful activity whilst promoting choice and independence. The product’s tremendous attention to detail allows family members to customise auditory stimulation to reflect their voices. It also provides real-life textures like that of orange peel to enable patients to connect with their choices.

“We’re tackling not only the challenge of malnutrition and dehydration but also communication barriers, food waste, and the issue of healthy eating. We’re helping both the planet and people.”

Alex Chikhani

Co-founder, Sensmart

 

The idea highlights how those who are proactive in finding groundbreaking solutions in the rare community can have impacts rippling across multiple industries and conditions. Alex describes how various fields have already taken an interest in the product – from the private and public healthcare sectors to tourism and hospitality.

Join them at Rarefest22 for an interactive multi-sensory showcase. The team has devised various engaging, fun activities accessible to all. Be prepared to have your senses warped! Learn more about their exhibit at RAREfest22. 

Book your ticket for RAREfest22

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Rishi Nag – combining passions to showcase science

Rishi Nag – combining passions to showcase science

by | Jul 12, 2022 | RAREfest

During the pandemic, Rishi cumulated his passions for science, music, and learning to create Singing Science. Inspired by his broad spectrum of music taste, from heavy metal to the South American Charango, his dynamic project combines shows and songs, putting science’s presence into the wrapping paper of music and the visual arts.

A love for science

Rishi has been fascinated by science since childhood. He studied maths at university and focused on sound processing before working at the University of Cambridge, Department of Plant Sciences. There he trained as a Bioinformatician, supporting biologists with their endeavours through data processing.

His first song enunciated the work of the underappreciated Arabidopsis thaliana. A plant commonly used in the Plant Sciences department, its contribution is often lesser-known than that of beautiful roses and tulips.

Inspired by his passion for science, Rishi sought to continue curating melodies and performances designed to showcase the wonderful world around us and complex creatures we are.

“Combining catchy songs with scientific topics provides a means for all peoples to learn engagingly and creatively.”

Rishi Nag

Founder , Singing Science

Singing Science

Therein born was Singing Science, an edutainment project that offers a memorable and refreshing way to teach science. His audience can learn topics like Genetics, Evolution, and Inheritance through snappy soundbites. Singing Science uses novel tunes and catchy melodies to express highly interesting scientific subjects.

Genomics! The Musical!

Rishi has been expanding his project by teaching in schools and curating both songs and shows. The newest of which comprises Genomics! The Musical!

Genomics! The Musical! is a one-person show where the fundamentals of genes and our DNA are explained using a series of ‘musical mini-lectures’. Ideas are introduced with words and then developed with catchy songs performed with a video backdrop providing further insights into the science of what makes us us. All done with a light touch of humour to provide an ideal family edutainment show!

At Rarefest22, Singing Science will be showcasing Genomics! The Musical! Combining the basics of Genetics and the impacts on the rare disease community, the show provides an engaging way to familiarise yourself with key concepts – fit for all ages.

It will offer an exciting starting point for later talks and activities. Be prepared to sing along to the jolliest, most entertaining lesson you’ve ever had!

Book your ticket for RAREfest22

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