Clinuvel Pharmaceuticals news and discussion blog » Mothers & Children

Living with HV

admin — Wed, 29 Feb 2012 07:56:20 +0000

In the final post from the Roosenboom family, and to help recognise Rare Diseases Day, Simone has penned her own piece on her experiences with Hydroa Vacciniforme. We are grateful to the Roosenboom family for being able to share their story.

Hi, all.

My name is Simone and I’m almost fifteen years old. I got ill when I was nearly six; exactly nine years prior to the day I wrote this. You can read all about that in the previous blogs written by my father.

The first years, my illness troubled me, but it got worse when I turned ten years old. The year 2007 turned out to be a horrific year for me. I got a bit older and more aware of myself and the way my surroundings reacted to my appearance. I looked quite scarred and felt that I was different. Quite a lot of people acted in a way that strengthened that feeling: they looked at me with horror. My parents and I got quite upset with that, even to the point that my mother told these people in anger that I was contagious so they would quickly get away from us. I thought it was funny but in the end it didn’t change anything.

The situation at school got worse also. I was bullied, called names and treated like an outcast. They called me a zit and fatty because of my blisters and overweight. It made me sad and angry and I kept it all in. The bullying lasted several years: far too long for me to handle. Something in me broke. At age twelve, I was that angry that I considered it being better not to live than go on this way. I had really had it with the situation.

The last months of primary school I avoided school and went to a psychologist, but that didn’t solve much. Only when I went to middle school things turned to the good for me. I got a nice welcome and felt I could make a new start. People treated me normal and I made some nice friends, who still are there for me when I need them. Most of the bullying stopped, although sometimes there was a lack of understanding when for example gym class was held outside in warm and sunny weather and I had to stay indoors. If only they knew that I would have loved it! Nowadays I’m in third grade of middle school. Classmates sometimes asked me what disorder I was suffering from and what caused it. So I gave a lecture in class once. I meet a lot of understanding now, which feels really good.

Last summer I noticed that I was doing a bit better, I mean, parts of my body started to react less severely to UV-radiation. I even went to the beach the last day of the vacation, wearing protective clothes and sunscreen but not on my lower arms and –legs. That was so cool! And I had no blisters afterwards! After over eight years I felt the wind blowing softly along my legs. So simple, yet so special!

Image reference

Simone today, courtesy of the Roosenboom family

Hang in there! Take back control! (Part 2)

admin — Mon, 27 Feb 2012 07:55:57 +0000

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. In part one of this post Richard described the onset of Simone’s disorder and the road to the diagnosis Hydroa Vacciniforme (HV) some months later.

Our local hospital learned about Simone’s diagnosis with HV and invited us to discuss her condition. They felt that the diagnosis needed confirmation by tests. Yet, as HV itself cannot be confirmed by tests, that meant that Simone would have to undergo a series of examinations to exclude other diseases and disorders. They felt that the diagnosis of HV could be accepted only if all others had been excluded. We learned about some tests being quite painful and harmful to Simone’s skin and took control again: we refused. We decided to accept her having HV and not having her undergo such an ordeal, knowing that even if HV was confirmed, it would change nothing.

In the same period we said goodbye to our local dermatologist and a health care service for children, because we needed to explain the disorder to them in order to get good care for Simone. In the same timeframe Simone got sores in her mouth which were HV related. Our dentist was open to this explanation but, later on, her orthodontist believed that her teeth weren’t correctly brushed. Another lack of understanding to fight.

Things got quiet around Simone from September (2003) on. The whole journey from February to September had taken up so much of my wife’s and my own energy that we went on vacation for a week and a half to get some rest. We went to Sicily, Italy, without the children obviously: Simone could not enjoy the sun anymore! We were too tired to feel guilty about our trip. And although Sicily is a beautiful island with history and culture, we didn’t do anything but resting at the pool and enjoy some nice dinners.

Back home again, we turned our attention to Simone again. We bought some dense woven swimming suits from Australia via the internet. With these long sleeved and –legged suits Simone could enjoy staying outside up to two hours a day. We treated her face with SPF60 every hour, and had her playing under a parasol. A more effective sunscreen was offered to us, but it would cause Simone’s skin to turn pink. Because she so desperately wanted to be normal and accepted, we rejected using that as well. She also used a lip balm with SPF25 because her lips got affected by the radiation.

We tried to get some compensation for all our extra costs from our health insurance but that was rejected. Also compensation via a special sanitation law was denied. None of our treatment and preventative costs fell within the laws in place to reimburse patients in the Netherlands; an example of how rare diseases are systematically discriminated, largely due to ignorance, by institutions and law makers.

Sadly, when Simone was outdoors too long, some blisters would occur and she would suffer from nausea and headaches. Later on we learned that some kind of mild sunstroke also follows being exposed to the sun for too long. Slowly we all got used to the fact that spontaneity wasn’t meant for us anymore. We, the adults, could of course cope with that a lot better than our children. Yet, never again being able to do as you like takes its toll on everyday family life.

A major breakthrough was when my parents discovered an SPF90 sun screen, being on holiday in Spain some years later. This product was especially developed for use on skins intolerant to UV-A and –B radiation. Now Simone could stay out for up to four hours. To avoid headaches we still kept her in the shade.

At primary school, Simone was doing fine at first. When she and her classmates got older however, they accepted less and less of her. Simone stayed home sometimes, and couldn’t enjoy sporting days or daytrips. On one school camping trip I had to collect her on the first night – she just wasn’t able to cope. As time went by, she slowly became an outcast. Again Simone wouldn’t go to school. Fortunately the situation improved when she went to middle school some years ago and made some new friends. She is doing quite well now, to her and our relief.

Two years ago, after a tip from a neighbor (thanks Frank!), we learned about the Clinuvel company developing a medicine for EPP. While we know at present there are no trials for HV or for children, it was encouraging to know someone was working in the space of skin diseases caused by light and trying to find new ways to protect skin like Simone’s. Together we also arranged for HV to be described on the company’s website, adding to the broader awareness of the disease.

Also two years ago I launched a website for Simone and HV in the Netherlands. I wrote down her story and described what means we use for coping with HV every day. To my surprise, last year we were contacted by an HV patient and the mother of a young HV patient, both in the Netherlands. This was a very emotional moment for Simone since she always thought to be the only one with HV in our country of 16 million inhabitants.

Simone turns 15 next month. Next week she will have lived with HV for nine years. And yes, she seems to be healing spontaneously slowly since puberty, but only for some parts of her body. Her lower legs and arms seem to be more toleration of UV radiation. Encouraging, but we feel that there’s still a long way to go. Gladly, Simone is quite positive about it, and we should be too.

Editor’s note: You can read more about HV at http://hydroavacciniforme.nl/

Image reference

Simone in her protective sun gear courtesy of Richard Roosenboom.

Hang in there! Take back control! (Part 1)

admin — Tue, 21 Feb 2012 10:54:59 +0000

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. You can read the first post here: Too rare to diagnose: Hydroa Vacciniforme.

In 2003 our daughter Simone (then almost six years old) was diagnosed with Hydroa Vacciniforme (HV) by a leading Dutch dermatologist with over 35 years of experience. He listened carefully to our story, retreated for a moment to think and consult some books, and then came back and pointed out the page in a book where HV was described. He had never seen it in his life! After over three months Simone’s illness finally had a name and a history, and we felt like having a future again.

The months before had been devastating for us. After a sudden onset of Simone’s illness in February, without any warnings, together with a local dermatologist we tried to discover what was wrong with her. Of course we thought that if we knew what she had, we could start treatment for her and it would all be over. But it wasn’t that simple. We saw Simone getting worse by the day.

Not knowing that she suddenly suffered from intolerance to UV-A and –B radiation, every day she would play outside and have her blisters dry out in the sun. She looked hideous and hated her skin reactions. We all did. After some bad experiences with people and other children in stores, at the market, at school or on the street, Simone retreated and refused to go outside, even in the backyard. She became very depressed.

Her dermatologist at the time had no clue at all about what he was dealing with; HV is so rare that almost no dermatologist in the Netherlands has ever seen a patient. So ours didn’t recognize what caused Simone’s suffering. He initially gave Simone drugs against viruses that she didn’t need, and prescribed incredibly heavy anti-malarials later on (which I refused to give her because of serious side effects). We started insisting that he would do more to help her, but we became more and more disappointed after consulting him every two weeks for some time.

We felt we should take control and asked for a second opinion. To our surprise the dermatologist was in agreeance. An appointment was made in a hospital in Amsterdam, but the doctors there confirmed that her illness was probably a pox-like virus. Because we ended up in the same circle again we kept protesting to our dermatologist and that paid off again: we could visit another hospital in Amsterdam. As you already read, there we learned that Simone has HV. We sighed from relief and are grateful to this dermatologist every day since.

From that point things changed a little. We started to read on the internet about HV. The cause was unknown, there was no cure, but there seemed to be a possibility that Simone would heal spontaneously during puberty in the years to come. Some kinds of treatment had been tried in the past with other patients, but nothing had appealing results. We concluded we could only do one thing for Simone: prevent the radiation from reaching her skin.

We also found a support group on the internet and joined it. That’s where we discovered that Simone’s story is exemplarily. A difference was that we seemed to be more in control of the situation than parents of other patients worldwide. We got complimented on that by an older HV patient, a man living in Australia, then aged 33. It helped to negate some doubts as to whether we were doing the right thing for our daughter.

At first, we kept Simone indoors until all her lesions had healed. All blisters from HV end up becoming permanent scars, so although she looked much better than before – without thick black crusts and red blisters – she still looked different. Not only did she attract attention with her scars, going outdoors again wearing a large hat, shirts with long sleeves, pants and even gloves in the summer was a bit odd too, to put it mildly.

Simone reluctantly went back to school. To make it easier, we asked her teacher to hand out flyers to the parents of the other children to inform them of her disorder, reassure them that it was not at all contagious and ask for their support and understanding. We even asked them to speak to their children about HV, to avoid Simone being bullied with her disorder. This worked fine in the first few years. Simone started to do a little bit better.

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

Editor’s note

Part two of this post will be published next week. You can read more about HV at http://hydroavacciniforme.nl/

Image reference

Simone’s HV reactions, courtesy of Richard Roosenboom.

Too rare to diagnose: Hydroa Vacciniforme

admin — Fri, 17 Feb 2012 11:15:24 +0000

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 29^th: 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.

Top five sun and skin myths (part 1)

admin — Wed, 01 Feb 2012 14:12:01 +0000

There are a number of misconceptions about the interaction between sunlight and skin. In this two part post we look at what we think are the top five most common sun and skin myths.

Myth 1: I can’t get sunburnt on a cloudy day

While clouds may provide welcome relief from the heat and glare of sunlight, they do little to protect our skin from the ultraviolet (UV) rays which cause sunburn, skin cancer and other forms of skin damage. Cloudy days can be dangerously deceptive because they block much of the heat (thermal radiation) which we usually associate with high UV levels. As a result, we tend to assume our skin is not at risk when the weather conditions are overcast and drop our guard in terms of sun protection. Unfortunately, UV radiation is not entirely blocked by clouds and, in some instances, clouds can even intensify these harmful rays.

If you wish to be aware of the dangers on any given day, refer to information on your local UV Index rather than the temperature during that day. In addition, always remain vigilant about protecting your skin when outside, regardless of cloud cover.

For more, check out our recent video:

Increasing Ultraviolet Levels

Myth 2: Glass protects my skin from the sun

This myth is actually half true.

The sun produces three types of ultraviolet (UV) light: UVA, UVB and UVC. Of that which reaches the Earth’s surface, approximately 6% is UVB and 94% UVA. Most standard glass (such as the window glass in homes and cars) blocks only the UVB rays, the shorter wavelengths which cause sunburn. Glass, however, doesn’t block out longer UVA wavelengths, which are responsible for causing wrinkles and long-term skin damage which can lead to skin cancer. This means that glass may stop you from getting sunburnt but it does not protect against the other damaging effects of light. Modern glass tints (such as those used in many cars) may filter out some of the UVA rays, but these are never 100% effective and shouldn’t be relied upon to guard your skin against harmful UVA radiation.

Myth 3: A high Sun Protection Factor (SPF) sunscreen will totally protect me from skin cancer

There are some important factors to consider when using sunscreen, regardless of its SPF rating.

Firstly, most dermatologists advise that sunscreen is only one factor in our defense against the sun and should not be solely relied on to protect skin, particularly during the middle of the day when the sun is most intense.

Wearing protective clothing, including broad brimmed hats and long-sleeved garments made of tight weave fabrics will help reduce your exposure to harmful ultraviolet rays. You should also aim to avoid the sun during the middle of the day (approximately 11am till 3pm) when UV radiation is at its peak or seek shade where possible.

Secondly, always check that your sunscreen is a ‘broad-spectrum’ product, meaning it will protect you from both short and long ultraviolet wavelengths (UVB and UVA), both of which can cause skin damage and lead to cancer.

Finally, studies have found that most people do not use enough sunscreen, you’ll need to apply approximately one teaspoon of sunscreen to each segment of your body (i.e. each arm, leg and your face) to ensure it protects your skin effectively. It is important to apply your sunscreen before you head outside (preferably 15-30 minutes prior) and re-apply it every two hours that you stay in the sun (more regularly if you’re swimming or sweating heavily).

Part two of our sun and skin myths will be published next week

Low sunscreen use, high melanoma rates: a breakdown of the sunsmart message?

admin — Tue, 24 Jan 2012 09:26:36 +0000

It’s estimated that more than 9,000 Americans will die from melanoma this year and 76,000 new cases of the disease will be diagnosed. Melanoma, an aggressive skin cancer which can spread (metastasize) quickly to other parts of the body, is also the second most common form of cancer in young Americans (those aged 15-29).

Overexposure of skin to ultraviolet (UV) radiation significantly increases an individual’s risk of melanoma, particularly at a young age; just one severe sunburn in childhood can double the lifetime risk of melanoma. Sun protective measures such as clothing and sunscreen are seen as key to reducing melanoma risk.

Unfortunately, however, new research suggests that the ‘sunsmart’ message may not be getting through to young Americans.

A team led from the Memorial Sloan-Kettering Cancer Center in New York followed 360 Massachusetts students, surveying them in 2004 (during fifth grade) and 2007 (early teens) to gauge their attitudes towards, and behavior in, the sun. Fifty-three percent were found to have been sunburnt in the previous summer during both surveys, while positive attitudes towards tanning increased significantly between the two surveys. Startlingly, only 25% of the students admitted using sunscreen regularly in the follow-up survey.

The authors have used their findings to push for further research into promotion of the message at places which will have the most impact on children and adolescents (such as at beaches and sporting events), as well as for an increase in the overall sun safety message.

“We have to think about how we teach sun avoidance,” Dr Stephen Dusza, lead author of the study, told CNN. “A lot of the message that’s out there is focused primarily on sunscreen, but such things as the amount of time spent in the sun and shade-seeking behaviors should also be part of the message.”