We recently invited Richard Roosenboom to share his experiences as a parent of a child with a rare disease. In the coming weeks we will publish part of the Roosenboom’s story in a four post series.

This year, 2012, sees calendars with February 29th: a rare day that is only seen once in every four years. Thus it is logical that this day is chosen as the worldwide Rare Diseases Day: a day where extra attention is sought for many rare diseases and disorders from which adults and children suffer every day.

Often the causes of rare diseases aren’t known. There’s often no treatment (yet). That’s why the world needs Rare Diseases Day: to show that these patients too are entitled to care and treatment, like any other.

Hydroa Vacciniforme (HV) is one such rare disease.  This is my family’s story, discovering that our daughter suffers from HV, but also learning that our story is exemplarily for most of the HV-patients worldwide.

By North European standards, spring started really early in 2003. The last week of February was unusually sunny and warm. Really nice, as my family enjoyed a short break in Belgium. Every day my wife and I played with the children in the pool of the vacation park, walked its surroundings or played badminton. Our oldest daughter Simone, nearly six years old at the time, showed some sort of skin rash, but nothing to worry about. Yet, after that break, we didn’t stop worrying for a long time….

The day we drove home, I looked into the back mirror and was shocked: Simone had a complete breakout of some kind of fluid-filled blisters. We decided to drive home to the Netherlands and consult our physician there straightaway.

Our doctor diagnosed the blisters as some kind of pox. To be sure, he sent us to a dermatologist the same day. That man was calm and gentle and he radiated confidence, which gave us the feeling that everything would be all right. He prescribed some anti-viral medicine and advised Simone to go into the sun and let her blisters dry out. And that was what we did.

The blistering got worse over the next days. All over Simone’s face, nose and ears, there were thick black crusts now. From that moment, the psychological consequences became apparent. People turned away their eyes and heads in total disgust when they saw her.  That felt horrible. We hoped Simone wouldn’t notice it, but of course she did. A few days later she wouldn’t go outdoors or to school anymore.  Months went by, and we became desperate with the situation.

In June, we visited a large university hospital in Amsterdam, but nothing new or useful came out of that visit, even though Simone was examined by a large team of doctors. So we visited another big hospital in the city some weeks later. Their lead-dermatologist, a respected specialist in the Netherlands, examined Simone, then retreated for a moment and consulted some books, and returned again. He showed us the page with HV on it, and said that he believed this was what Simone suffered from. We read the page and it all came together. Everything we experienced and saw fitted the diagnose: Simone had Hydroa Vacciniforme, an extremely rare disease where the skin is intolerant to both UV-A and –B radiation.

We now knew what it was, and started learning how to cope with it. The very first instruction was to avoid direct sunlight. This advice was the exact opposite to that of the dermatologist who sent Simone into the sun with her vesicles. Sadly, his mistake had huge consequences: Simone has permanent scars in her face and on her ears, on her hands, arms, upper body and feet.

We were so sorry that the dermatologist didn’t recognize the disorder when he examined Simone over and over again. On the other side, HV always occurs in spring and summer, and this was February. And the doctor that diagnosed Simone told us that he knew about the disorder, but had never seen a patient in the Netherlands in his 35 year long career. It was too rare to diagnose, and bad luck for our daughter.

Only two years ago, we heard about the annual Rare Diseases Day. We joined a local Rare Diseases Day event and immediately felt very much at home and understood. Of course we support everything the organization stands for. It would be great if the medical and pharmaceutical worlds pay more attention to rare diseases and the patients who suffer from these. Maybe for new HV-patients misdiagnosis don’t happen that often in the future anymore. So join your local celebration of Rare Diseases Day! Help raise attention for their right to care of your and our loved ones!

Please feel free to contact us at info@hydroavacciniforme.nl.

Editor’s note

You can read more about Rare Diseases Day at http://www.rarediseaseday.org/ and about HV at http://hydroavacciniforme.nl/

Image reference

Simone in her protective sun gear courtesy of Richard Roosenboom.