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.
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.”
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.