By Carly Fields

 

Discovering our child had EB

We first heard the words ‘epidermolysis bullosa’ in 2013. It was completely new to us, we didn’t have it in the family, and we didn’t know anyone with it.

Our EB journey started when our daughter Naomi was crawling at around 9 months old. It was then that we started noticing blisters on the end of her tiny fingers. Initially, we thought these were pressure marks from the floor, or perhaps a reaction to something she had touched. But the blisters kept growing and growing, and it soon became clear that they were not going away. In just a few days they had swelled to become almost the size of her tiny fingers.

This didn’t feel right so we went to see our local GP. They downplayed it and suggested that we give it a few days to see if there was any improvement. But that didn’t allay our concerns, so we asked for a referral as we thought this was more serious than the GP had indicated. It felt right to get a second opinion and so we pushed for it.

It’s at this point where our story differs from many other people who have had to live with EB in their lives without receiving a diagnosis or have received a diagnosis but have then been unable to access the specialist support needed to live with EB.

A referral wasn’t actively offered by our local GP, but we really pushed hard to get one and this made a real difference in terms of speeding up the process to getting a diagnosis and the additional support that came with it.

It is fair to say that it is a ‘postcode lottery’ though when it comes to the level of healthcare support you receive for EB. We were fortunate that we got the referral early on, although we had to fight for it and in doing so we proved our GP wrong as they did not believe that we would get an urgent appointment.

The referral led us to see a local dermatologist. He was not an EB specialist and couldn’t, at first, diagnose the condition. But he was curious and actively researched possible conditions. In fact, we hadn’t even left the hospital when he ran after us to suggest it could be EB and that we should get a blood test.

The blood test led to an official diagnosis of epidermolysis bullosa simplex (EBS), the dominant variant of EB, an extremely painful and debilitating genetic skin blistering condition.

Passing these two hurdles – getting a referral and a diagnosis - happened relatively quickly for us but we know from talking to other EB families this can take years. Sometimes people live their whole lives without being officially diagnosed due to lack of awareness of EB amongst GPs and other healthcare professionals, and therefore lack the support that is so urgently needed.

Following the diagnosis, we were referred to the EB specialist centre at Great Ormond Street Hospital in London, and at the same time we were referred to DEBRA, the patient support organisation for people living with EB. Suddenly we had access to much more in the way of support and advice to help us better manage Naomi’s condition.

 

Becoming an EB expert

There was still a lot of reading to do though and a lot to get our heads around, as this was all new to us. One example was something as simple as getting travel insurance. Because our child has a rare genetic condition, we were asked questions around the probability of her getting skin cancer. This was incredibly distressing and something that we were not expecting.

We had a lot to learn about EB and quickly.

There are blanket statements about EB, but the different subsets vary so much; you can get a very severe variant of EBS, which could be worse then a milder variant of dystrophic EB. Thankfully, the team at Great Ormond Street really helped us; the nurses there are brilliant and it’s so reassuring to know they’re only an email or phone call away. Likewise, the community support team at DEBRA have been incredibly supportive.

Over the years, we have met other EB families and people living with EB at the DEBRA members weekends and other regional events. It has helped so much to be able to speak with other people who have gone through the same challenges as us. In particular, speaking to people in their 20s and 30s with EBS has really helped as we have been able to learn about the impact EB could have on Naomi as she grows up.

 

EB healthcare

While the support we have received through the EB specialist centres has been good, there is still a lot more that can be done within the wider NHS to help improve the care and support that people with EB receive. In all honesty it is streets away from where it should be because nobody has heard of EB, so everywhere you go you are explaining to the healthcare professionals what it is. Some even ask whether it will improve with age – which no chronic genetic condition will.

Outside of Great Ormond Street, we have seen local NHS and private healthcare professionals, and the support we have received has been mixed in all honesty. Our local NHS podiatry service didn’t have any understanding of EB and didn’t take the time to learn; but the local NHS orthotics team have been really helpful, once I explained the issues that we have with footcare. However, this support wasn’t offered. You have to ask for everything and keep asking until you get the support you need. I had to search for who to talk to about getting custom shoes made, as having the right fitting shoes makes a big difference to Naomi’s blistering. I had to do the research, I had to find the people to contact, I had to explain the condition, and only then are you assessed for eligibility. When we actually got to talk to the orthotics team, they were really helpful, but it takes a lot of time and effort to get to that point. This is a clear example of the ‘postcode lottery’ again - the level of care and support is so variable depending on where in the UK you live.

We have also managed to get a wheelchair from the local occupational therapy team for Naomi, but again I had to be proactive and reach out to them and explain what EB is and why Naomi needs one, because it isn’t always obvious. In the colder months Naomi most likely won’t be in the wheelchair but when the temperature increases around spring, she could be in it for 4-5 months full time. So, we now have a wheelchair, which really helps, but beyond that there hasn’t been any proactive care from the NHS occupational therapy. If we need adjustments or an upgrade to the chair it’s up to me to contact them, not the other way around.

 

The support we have received

We do have a blue badge, which not everyone with EB is awarded, but again, we had to fight to get it. We were lucky that our assessor on the day had been proactive, and had found out about EB in advance, so we didn’t have to go through the usual long-drawn-out exercise of explaining it. She got it and understood why Naomi needed a wheelchair, but not everyone is as understanding.

Naomi’s primary school, meanwhile, have been brilliant. We have spent a lot of time educating them on Naomi’s condition and specific needs, and while they don’t fully understand it - which they would readily admit - crucially they listen to us, and they will help her in the best way they can. Naomi goes to secondary school in September and that will be a big transition for her from a small rural school to a much bigger site.

Naomi doesn’t have an Education Health Care (EHC) plan because we’ve always been able to manage her EB directly with the school, but as she approaches secondary school, we’ve been given access to the Advisory Teaching Service, which provides specialist support for children and young people with SEN, disabilities and additional needs. Again, we’re incredibly lucky because of where we live as this is a local service, which may not be available to children with EB in other areas of the country. They have already been very helpful in managing the transition and making sure the new school are up to speed and aware of Naomi’s needs, but ultimately Naomi will have to find her way from little to big school.

 

Daily challenges of living with EB

The temperature and the amount and type of activity can make a big difference to how Naomi feels. We also must make proactive choices about what she can and can’t do. For example, if she had a period of activity, such as walking on holiday or spending time doing an activity with her friends, she will pay the price for it in terms of blistering. She’ll be in extreme pain, and she will need to take strong painkillers. We’ll be lancing and changing her dressings twice a day, and she’ll need to soak her feet. If we want to do anything as a family, it always needs to be wheelchair friendly as she will need to spend some time in her wheelchair - that is the reality.

Despite everything, Naomi is incredibly positive. She has a great circle of friends who look after her, sit with her indoors at school if she can’t do anything active outside, and push her around in her wheelchair.

Physically, the pain is obvious, but there is a mental side to consider too. Naomi has told me that she finds it difficult to look at people whose feet don’t hurt, and she finds it difficult to accept that she can’t do everything that her friends do.

 

Hopes for the future

To dramatically improve Naomi’s quality of life we would need a scientific breakthrough which could provide a means for keeping her body temperature down enough to completely stop the blistering. That may sound bizarre, but for Naomi, the temperature makes such a huge difference.

When the temperature is cool it’s like she doesn’t have EB. We still have to adapt our lives and consider what activities could trigger her blisters, but generally we can manage it. As soon as the temperature rises in the spring and summer that is when she starts blistering and her quality of life gets significantly worse. At that point she can no longer do the things that her friends do, which is heart-breaking to see.

Another hope for the future would be gene therapy – that could be a game-changer for the EB community. For Naomi though, who is only 10, it’s not something we would want to put her through unless the treatment is completely proven. Drug repurposing is another area worth exploring for wound management and protection of open wounds. But prevention is key as once the blisters come; you just cannot get rid of them. If we could reduce or stop the blisters coming that really could transform Naomi’s life and the lives of thousands of other children living with EB.

 

Carly Fields, mum to Naomi, 10, who has epidermolysis bullosa simplex (EBS).

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DEBRA works in partnership with the NHS to deliver an enhanced EB healthcare service, and through its community support team it works with the EB community, healthcare, and other professionals to improve quality of life for thousands of children and adults throughout the UK, who are living with the pain of EB. For more information, please visit www.debra.org.uk

 

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The EB stories blog on the DEBRA UK website is a place for members of the EB community to share their lived experiences of EB. Whether they have EB themselves, care for someone living with EB, or work within a healthcare or research capacity related to EB. 

The views and experiences of the EB community expressed and shared through their EB stories blog posts are their own and do not necessarily represent the views of DEBRA UK.  DEBRA UK is not accountable for the opinions shared within the EB stories blog, and those opinions are of the individual member.