Results of my research: the benefits and burden of EB medication

My name is Catherine Silk. In 2025, I completed my Genetic and Genomic Counselling MSc at Cardiff University. My research project focused on the medications used to manage EB and its complications, looking specifically at how the medications impact people’s daily lives. While there are a lot of articles about the effectiveness of different treatments for different aspects of living with EB, such as pain and itch, I couldn’t find any existing research about what taking these medications is like.

Six DEBRA UK members, living with a range of EB types, very kindly agreed to be interviewed to share their experiences. Three of those participants also opted to send me photographs which offered a window into their daily lives. The interviews were wide-ranging, and it quickly became clear that while each person’s experience is very different, there are some common threads which tie them together.

I identified four key themes from the interviews:

1) Managing EB is complex and burdensome

This theme summarised the long journey that those participating in my study have taken to find an effective medication regime, the amount of work required to maintain it and the impact this regime has on their daily lives.

It was clear that finding an effective medication regime can take a lot of trial and error, involving experimentation, successes and failures. As EB is so different for everyone, each person was on their own journey.

Once someone has identified which medications work for them, maintaining a treatment regime can be highly complex and create a burden which takes time and can affect other areas of their life. Those individuals taking controlled drugs needed to spend a lot of time ensuring that they had an adequate supply of medications. This, of course, is on top of time spent on other elements of life with EB, such as wound care.

It became clear that there is a great weight of responsibility on the individual for managing their EB medications. In some cases, people took on their own medication management because they knew more about EB than their GP, or after negative or dangerous healthcare experiences. For those prescribed controlled drugs, the responsibility for looking after the medications in their home or when outside the home was significant.

2) Medications help me live a better life

This theme represents the improvements that medications have had on the daily lives of the individuals in this study, and the positive feelings that they hold towards them.

There is no doubt that medications are improving the lives of people living with EB, including by reducing pain, promoting skin healing and clearing up infections, among others. Individuals taking part in the study discussed the feelings of satisfaction, gratitude and trust which they have for the medications they take. In some cases, individuals could see an immediate impact after using a medication. In others, the impact was less clear but they hoped they were improving their symptoms.

Several of the individuals I spoke to clearly emphasised that medications are only part of the picture when it comes to EB management, and other support and treatment needs to be in place to improve quality of life.

3) I need the medications, but I wish I didn’t

This theme encapsulates the need for medication in the daily lives of people living with EB, and the tension between this reliance and the physical, emotional and social problems that medications can cause.

All individuals in the study talked about relying on the medications they take to manage their symptoms, and in many cases the need to make sure they remember to take them with them when they leave the house.

Although medications have improved symptoms for individuals, a clear thread running through the interviews was that many of these medications come with significant downsides. Some medications have brought negative and, in some cases, dangerous side effects. Some individuals also talked about ‘side effect chasing’ where medications are used to treat side effects of other medications, resulting in a chain of treatments.

A message which came up multiple times was the fear of addiction, and sometimes that fear has deterred someone from trying a particular medication. For people taking potentially addictive medications, that fear is present in their daily lives.

Strikingly, everyone I spoke to said that they wanted to either avoid or minimise the number of painkillers they take. Each individual had a different reason for this, ranging from concerns about the painkillers having a negative impact on their body, to accepting pain as a normal part of EB. For some, feeling pain is a helpful way to understand their condition.

A final element of this theme is living with judgement. Individuals shared experiences where they had been judged and stigmatised by healthcare professionals and by members of their own families. Individuals who had been prescribed opioids had been made to feel self-conscious or shamed for needing them. The association with the ‘opioid crisis’ has also been confronting, and led to some individuals having challenging thoughts about their own identities as drug users.

4) Healthcare experiences are polarised and powerful

This theme explores two sides of the same coin. Everyone in the study discussed their experiences within the NHS. On one side of the coin was the positive impact that receiving supportive care has had on individuals’ lives. Flipping the coin over revealed the many ways in which individuals have felt let down by the NHS and received inadequate care, and the detrimental impact this has had.

Some individuals had very understanding GPs who had taken the time to learn about EB and respected their patients’ experiences. This meant that those living with EB were able to access the medications they needed and build a collaborative relationship. There were also positive experiences around secondary care in hospitals and through specialist centres partnered with DEBRA UK.

Unfortunately, not all experiences were so positive. The lack of awareness about EB among GPs meant that people with EB had not always been given access to the treatments they need, or haven’t been believed when they talked about the side effects of their medications. When considering primary and secondary care, there was a sense from individuals that they have needed to fight the system and defend their need for specific treatments.

Why does this research matter?

I feel that this research has highlighted how important medications can be in living with EB. The topic is so much wider than just thinking about whether a medication is effective or not; it’s clear that medications can impact people physically, emotionally and socially.

I hope that anyone taking medications for EB who reads this feels that they’re not alone, and that it’s OK if they’re finding their treatment challenging or overwhelming. It may also help to empower people to ensure their needs are listened to.

I hope that any healthcare professionals who read this see what a huge subject it is, and understand how important it is to become educated about EB and offer medications in a way which is positive and non-judgemental.

I would like to finish by saying a huge thank you to the six people who so generously shared their experiences for this study. I have learned so much from you, and I’m enormously grateful for your contributions to this research.

 
What these words mean

• MSc = Master of Science, a post-graduate qualification only available to those who have already completed an undergraduate degree
• Controlled drugs = drugs such as opioids, that can be used recreationally and/or cause addiction in addition to their medical uses so are subject to regulation by the government
• Opioids = morphine and similar drugs that are derived from, or mimic natural substances found in the opium poppy
• Treatment/medication regime = the doses and timings of medications day to day