Michelle’s children have recently been diagnosed with another condition and here she tells us what it has been like trying to work out what is going on, the relief of a diagnosis and a positive outlook on the way forward.
When you have children, you go the park, swimming and beaches. All free family fun!
My son Matthew didn’t like the feel of sand and my daughter Lana tried to eat it… but Matthew would scream, rub his arms and cry as if he was on fire! A few years later Lana started reacting too, yet there was no rash, bumps, lumps or marks. Sometimes the sun had no affect but when it did, only cold wet towels would smooth their painful skin.
This was the start of a journey of never ending suncream, lotions and antihistamines! Wearing long-sleeved tops every summer, back to the doctor for more creams or antihistamines, trying to explain that my kids seemed to be allergic to the sun!
I still did beaches, (we live near some great ones!) but at different times of the day, avoiding mid-day sun, and with skin covered. My son dislikes parks, beaches and being with lots of people, my other child needed the space to run and explore – it was a balancing act in itself meeting their needs and trying keep them out the sun.
Both children received an autistic diagnosis, so I wondered if this could this be a sensory issue?
My daughter also has ADHD. If it wasn’t for her brother being scared of going out in the sun, Lana and I would have been outside more often, as we hate been indoors, and the same issues in her may have been noticed sooner.
Every summer I would search for answers, mainly online, also asking at routine medical and support appointments.
I’ve lost count of how many times I’ve had to say “no” to joining in outdoor activities. My kids seemed to be allergic to the sun, friends and professionals have offered solutions and I’ve tried them all! After days and nights of trying to help them sooth their pain I was willing to try anything!
Then, last year, after trying to explain to schools (and many others) that being in the sun will cause them pain,
My son, who is autistic and highly intelligent, said he had done some research himself and thought it might be caused by Ultra Violet (UV) rays.
Well, that was me to back the doctor again, with more complex questions about sun cream than I had ever thought!
This GP (General Practitioner) listened and referred my daughter to someone who could help, advise and maybe diagnose.
My son came to the appointment too and he explained that when they are in the sunlight, and even afterwards, they have a burning sensation under the skin, sometimes for a few days, inside, “as if our skin is on fire!” To recover, they have to use cold towels, sit near fans and wear gloves in the summer.
We were really listened to, we felt heard. At last, we had a diagnosis, for both of them!
ERYTHROPOIETIC PROTOPORPHYRIA (EPP)
EPP is a less common form of porphyria and is classified in the UK as an ultra-rare disease. It is an inherited disorder that is passed on from parents to their children. However, the inheritance of EPP is complex and can seemingly skip generations until it appears again.
For 17 years I’ve searched for a reason for such distress in my children, but EPP is so rare that not many doctors even know this type exists. Because I had covered them up and thought about so many different ways to help them not be exposed to the sun, there were no visible marks or scarring – and even the dermatologist thought they should be coved in scars by now from exposure to the sun.
I felt really guilty, angry and sad all at once. I wondered if they may outgrow it, find a cure or skin cream but no, they will never choose a sunny holiday, or even a day at the park with their own kids, unless they are covered! They will have kidney checks and take vitamin D for life.
My two don’t seemed phased! I’ve helped them cover up, shade and protect themselves. When we leave the house in the summer we have cooling sprays, towels, fans, gloves, caps, umbrellas, suncream from a doctor and sunshades for the car! They don’t miss out on too much, we work around the sun and have friends that understand.
I joined the British Porphyria Association http://porphyria.org.uk/skin-safety/ and found them really helpful – with advice, leaflets, information and they even sent us gloves and hats!
Summer is coming and people are getting excited for the beach, the park and holidays. We will just do it our way, and like vampires, stay out of the sun!
In writing this, I hope that someone will read it, realise that they or their kids may have EPP (or similar) and get support sooner than we did. I hope they don’t have to suffer as long as my kids did and can find help to deal with these consequences of enjoying every day family life.
This blog post is written by Michelle, mum to two children as mentioned in her writing. The views are the author’s own. Thanks Michelle, for sharing your story.