Edward’s mum Lucy and her partner began to notice changes to the skin on Edward’s forehead around the age of two, however it took several years and multiple referrals to reach an accurate diagnosis, partly because these conditions are so rare that they are not familiar to all healthcare professionals.
When you are told that something is wrong with your child, the worry you feel becomes all-consuming. I can still remember that awful phone call, when they first told me that they had found something in Ed’s brain, I felt sick to the stomach.
Lucy’s son Edward (Ed) was diagnosed with Parry Romberg syndrome and scleroderma en coup de sabre during spring 2024, at the age of six. Edward is the eldest of three children, he has a younger brother Albert and baby sister Ivy.
Lucy and her partner began to notice changes to the skin on Ed’s forehead around the age of two, however it took several years and multiple referrals to reach an accurate diagnosis, partly because these conditions are so rare that they are not necessarily familiar to healthcare professionals within primary care.
It looked almost as if there was a silvery grey scar on Edward’s forehead, and if he got a bit grumpy or angry, then these marks would turn red; so, we named them his ‘horns’, and he is still very proud of his horns!
However, as a young child, it was hard for Ed to get his head around it all, due to being told he needs to take medicine to feel better, but he doesn’t actually feel unwell.
Edward’s scleroderma has had quite a profound effect on our whole family. When we started to tell people about Edward’s diagnosis, I found a leaflet and I printed this out for his grandparents. If you Google it, then you can get some quite worrying images. You see the worst online, and I wanted to a good resource to share with other people. The SRUK leaflets have been really helpful for school, and I have found that the booklet is very user friendly.
Although there is no cure and the effects of his condition cannot be reversed, Edward has begun having treatment for his scleroderma, that the doctors hope will prevent his condition from progressing any further. Whilst this treatment is necessary, it involves having steroid infusions, and all this is very difficult for Ed and his siblings to deal with at such a young age. He is also experiencing some side effects that are hard for him to cope with and to understand.
Edward’s younger brother Albert is also being affected. Because he is only two years old, he doesn’t understand what is happening, why Ed feels unwell and can’t play after his infusions, or why he is always left behind when his parents have to take his brother to the hospital.
Both Lucy and her partner have been attending Edward’s appointments, and they have always had to attend his infusions together as well. This is because the infusions have been very traumatic for everyone, and it would just be too much to deal with if they had to go on their own. This continues to have a significant emotional impact on both parents. Lucy adds:
Our whole family has found it quite difficult. As Edward has been brave with everything, I try not to let him see anyone else being upset. But we have all found it really difficult, because none of us wanted this to happen to him, but it has. A major challenge for Edward has been trying to handle his emotions. I really want him to have a way to express all of the emotion, it will be essential for him to have the right support. We want to be there for him as he navigates the way he looks in the future and help protect his mental health. Ed is such an outgoing and amazing little person.