This Q&A is part of a series of articles for Rare Disease Day exploring the work in which BRC-funded researchers are involved. You can find our other articles here.
Mandy Aldwin is one of the Co-founders and current Directors of the Ichthyosis Support Group. The Ichthyoses are a group of conditions in which the skin is severely dry and scaly. Dry skin conditions such as eczema or psoriasis tend to be patchy and come and go. By contrast, in ichthyosis the scaling is continuous, usually affects the whole body and can for some in the early days of life be fatal.
Mandy and the Ichthyosis Support Group have been supporting Biomedical Research Centre-funded researchers on the nationwide ARCI study since 2015.
I was born with a rare form of ichthyosis called Netherton Syndrome. Newborns with Netherton Syndrome have skin that is red and scaly, and the skin may leak fluid. I was extremely unwell and unstable for the first year of my life during which time I barely put any weight on at all.
I have had periods of time during my life where I have been admitted to hospital and I first came for treatment at Guy’s and St Thomas’ in 1997 where I have been a regular patient since.
Growing up with a condition like Netherton Syndrome is extremely difficult, not only for sufferers, but also for their parents and family. This is partly because it is so rare but also because it is such a visible condition. When I was growing up there was very little information available and no real support offered.
In late 1996 Great Ormond Street hospital invited people with many forms of ichthyosis to a get-together at the hospital and it was a great relief to meet other people to share similar experiences.
One of the parents at the meeting described how isolated she felt when her Son was born with ichthyosis a few months earlier and suggested that we form a support group for others with the condition and so the Ichthyosis Support Group was born.
Research at Guy’s and St Thomas’
I first became aware of research at Guy’s and St Thomas’ in 2015 when research nurse Emma Glass contacted our group to ask if we could help them with recruitment for a large study investigating Autosomal Recessive Congenital Ichthyosis (ARCI).
Later that year, Emma came to our Annual Conference and gave a presentation to the families about the study, which is exploring the relationship between the appearance of the skin and the underlying gene mutation that caused the condition.
The study aims to make it easier to predict how each patient’s condition will change over time and what differences there are between the way the condition develops in different people.
While it is unlikely there will ever be a cure for these conditions, it hoped that the data from the ARCI study could be used to develop much improved and personalised treatments for patients.
From our charity’s point of view, the team at Guy’s and St Thomas’ have been great. Both Emma and the current ARCI study coordinator, Magda Martinez, have built up great relationships with many of the families in our organisation. But of course, the key thing for us and the families who participated are the results and how these will affect patient care.
Find out more: Icthyosis Support Group