Mary’s Xeroderma Pigmentosum Story

rdd-logoImagine a bunch of 20 campers and their families enjoying morning activities including craft, games, computers etc.  During this session parents have a chance to learn more about their child’s illness and adult sufferers gain confidence to live as normal a life as possible.  After a meal the campers and their families hop on a coach to destinations unknown, one outing is a country fair with food, rides, animals etc, another is adventure climbing and abseiling or maybe hiking and canoeing.  After a final meal the coach returns the exhausted campers to a well deserved sleep.

But this is no ordinary camp.  Morning activities commence inside at 1.00pm and the coach load of campers leaves the campsite at 8.30pm as the sun goes down.  As the suns first light appears on the horizon weary campers drag themselves off to bed.

Campers share the experience of living with Xeroderma Pigmentosum, a rare genetic disease that prevents the patient’s cells from repairing DNA after exposure to ultraviolet radiation (UVR).  Eventually the build up of damage leads to the development of all types of skin cancers.  As sunlight is the main source of UVR, to prevent or minimize the risk of getting skin and other cancers, sufferers go to extensive lengths to protect themselves from sun damage.

My daughter, Mary, was diagnosed with Xeroderma Pigmentosum in 1997 at the age of four and a half.  By the time Mary was three years old she had suffered 4 or 5 severe peeling sunburns.  We tried to be diligent in sun protection but became alarmed as we realized her skin seemed to be showing signs of extensive damage.  What appeared to be little white scars covered her arms and legs and her face was marked with freckles and moles despite her skin not being very fair.  Her face and hands always seemed to be red and sore and in the summer months she would shield her eyes whilst outside.

At this point our family doctor referred Mary to a dermatologist who, to my dismay, raised the possibility that Mary may have a condition that sees children presenting at an early age with skin cancer.  (The average age for development of skin cancer is about 58 years of age.)  I had expected to be reassured that Mary’s symptoms were common and that I needn’t worry.  Over the next 8 months Mary was seen by a paediatrician, and geneticist with the diagnosis confirmed by her skin cells being sent to England and tested to determine their ability to repair after being damaged by UVR.

Our lives changed forever from this moment.  Mary’s wardrobe completely changed to include long pants and long sleeve cotton shirts. Wrap around hats and gloves have become a normal part of Mary’s attire.  A strict routine of sunscreen applied liberally every two hours throughout the day, every day of the year has been implemented.  We had tinting applied to the windows of our home and car to increase the protection from UVR that comes through glass.  We also had an airconditioner fitted to the family van so that we could keep the car windows closed to maximize the protection.

Family picnics and BBQ’s on Sunday afternoons are a distant memory and our family routine is very different to how we expected to live our lives.  During those days Mary’s father or I accompanied our four boys to sporting events and often it was impossible for us to participate in extended family celebrations.  We made the most of evenings and indoor pools and playgrounds.  We turned up to events and venues as everybody else was going home.

Mary’s school implemented the same precautions that we had put in place at home.

Mary may be one of the 25% of sufferers of XP who also have neurological symptoms. Mary received extra help at school.

As a child when asked what she would wish for if she had just one wish, Mary often replied that she wished she could be like other kids and play outside.  In some ways we were able to grant her this wish when we took her to Camp Sundown in America.  She was just like the other kids and she did get to play outside without fear of being sun burnt.  For us, we got to meet other parents who had their world turned upside down and literally outside in.

We have kept in contact with families and sufferers from around the world through the internet and saving up to attend gatherings of families in the USA.

Despite her restricted lifestyle I would describe Mary, now 21, as an optimistic young woman, always making the most of every opportunity that comes her way.  Her teachers have always said that you just can’t help feeling happy around her.

It is sometimes hard to make decisions for the well being of a child that then isolates us from family, friends and the rest of the community.  What I have needed to ask of schools, employers and community groups is unusual.  Diagnosis is not always speedy and testing is costly.  Our family has valued the support we have gained from being in contact with other families overseas via the internet.

I would welcome hearing from other families living with XP.