Helen's story: Ectodermal Dysplasia

Helen always thought it was a personal quirk that she can’t tolerate heat – one of her earliest memories is of being given bottles of cold water at nursery school to hold to help her cool down.

It wasn’t until she started university at the age of 18 or 19 that she became properly aware there was something not quite right. She realised others were able to control their body temperatures by sweating, something she was unable to do. Google searches on ‘why am I not sweating’ resulted in her first introduction to the term Ectodermal Dysplasia (ED). However, Helen didn’t fit the typical picture of someone with ED – the information available referred to young boys, not girls, all of whom had a distinctive look which she did not relate to.

Over the next few years Helen became increasingly frustrated. Her inability to sweat was not only impacting on being able to exercise – she’s a keen cyclist – but also meant she was constantly having to adapt in many other areas of her life. Things most people take for granted – going on holiday to somewhere hot, taking a walk in the sun or even cooking a roast dinner – were potentially dangerous to her.

“I love cycling but before I set off I always check the weather forecast,” she said. “It’s not normally a problem during the winter but in warmer months if it’s going to be sunny, I won’t go. For me, the problem doesn’t lie in getting warm, it’s the cooling process. If I get too hot, I can’t cool down by sweating like everyone else, so I have to modify and adapt what I do.”

Getting a diagnosis

In 2019, Helen’s first attempt at gaining a diagnosis ended in frustration when her GP didn’t believe she was unable to sweat – instead she was told it was probably a hormonal problem.

Her suspicion she might have ED were reignited when Helen met her partner, who has an atypical presentation of Cystic Fibrosis. Strengthened with the knowledge that you don’t need to have a typical presentation to have a condition like ED, her persistence resulted in a referral to a consultant dermatologist and the diagnostic process began.

A genetic blood test was completed and seven months later Helen was told she has a single letter mutation in an autosomal gene – and her diagnosis is indeed ED.

What getting the diagnosis means

Knowing about her own type of Ectodermal Dysplasia – where no sweat glands were formed during her early embryonic development – has led to many positive changes in Helen’s life.

Armed with the knowledge of her diagnosis, Helen now feels confident to speak up in personal and professional situations. She feels people take her more seriously and the diagnosis allows them to understand why she may have an issue with sitting in a hot meeting room or needing to leave to cool down. She also feels more comfortable in seeking help in social settings – for example, asking someone to let her sit in the shade.

And even though she knows it is a hereditary condition with a fifty percent chance she may pass it on to any future children, Helen is pleased to have a diagnosis. The knowledge has given her the power to act and improve her life and strongly encourages others to get tested as a way of improving their lives.

“I’m a scientist,” she said. “I’ve always wanted to know more about the world and what makes us tick. The knowledge has given me the confidence to talk about my condition with my work colleagues and friends – something that’s removed a lot of stress from my life.”

“In many ways, ED is a weird condition – one day you are completely able to keep up with everyone and there is nothing at all wrong,” she said. “The next day, it's five degrees hotter and you can't keep up with anyone and you are ‘disabled’ by something that others barely acknowledge. This was and is incredibly frustrating but is helped by knowing it's not due to laziness or anything that I can control.”