Rare Disease Day - 28th February 2015

Maja – 2nd Birthday

Maja is two years old and wonderfully enthusiastic about life. She was so keen to come into this world that when it was time to be born (on a frosty December night) she allowed mum and dad a full 45 minutes to get dressed, arrange childcare for her sister, drive to hospital, get admitted to the labour ward and deliver the baby. Since then she has been living every day of her life with such energy that we sometimes wonder – is there an end to it?

Maja was born with CMN on her belly and leg. We had never heard of the condition before and neither had the nurses and doctors with whom we first talked about the large black mole on her skin. We then spoke to other doctors at Chelsea & Westminster hospital who knew a lot about it and offered us the option to perform surgery (dermabrasion) on Maja.

For a number of reasons we had to take this decision within a matter of hours. With the great support of our family and that of the wonderful team at Chelsea & Westminster we decided to go ahead with the procedure. By the time Maja went into the operating theatre she was just over a day old. She would spend the following two weeks of her life in the neonatal intensive care unit.

The doctors and nurses at Chelsea & Westminster were magnificent. The care and attention for Maja and for us parents was simply extraordinary and we felt very lucky that given Maja’s condition she had been born in one of the few hospitals in the UK (and probably the entire world) that had the expertise and equipment to perform surgery on a newborn to treat CMN. The surgery was initially very successful, although with time Maja’s pigmentation has to a certain extent re-appeared.

In the months that followed we started looking for other specialists who could shed more light into CMN; as a parent you can’t stop wondering whether somewhere in the world there is someone who can do something. We spoke to paediatricians, dermatologists and plastic surgeons; we looked in the UK, our country of residence, and in Italy, our home country. We sought referrals from all those who we spoke to and, finally, we were directed to Dr. Veronica Kinsler at Great Ormond Street Hospital.

Meeting Dr. Kinsler and learning about her research into CMN gave us comfort, hope and renewed energy. It was heart-warming to find that unique clinical research into our daughter’s skin condition was being carried out so close to where we live. It was comforting to learn that we were not alone, and that so many CMN families had come together to provide support for this research. It was a privilege to become part of the research itself.

At that point we began thinking of how we could help support Dr. Kinsler’s work. We learned that Caring Matters Now provided significant funding for her work and started looking for ways to raise awareness of the charity’s existence with friends and family. At first, Chiara (Maja’s mum) tried to get friends to make online purchases through websites that would remit a percentage of their sales to Caring Matters Now. It was a start, but any progress was linked to friends actually needing to buy things, and the amount raised was a small portion of the money spent. Then, one of our friends told us that he was not interested in buying anything from these websites but was really eager to donate to Caring Matters Now; he made a £50 donation through the charity’s website. That was surely the way forward!

Shortly thereafter Chiara set up a page for Maja on the Justgiving website. It was designed as a birthday page and we asked friends and family to contribute to Dr. Kinsler’s research rather than buying presents from Maja. We felt that by giving our fund-raising effort a personal touch, we would allow friends and family to show closeness to Maja while at the same time support the great work done by Caring Matters Now; this, we thought, would generate greater involvement. We also thought that setting a deadline for people to make contributions would be an incentive for those who wanted to make donations to act. We told everyone that the page would close on 16 December 2010, on Maja’s second birthday.

The participation and generosity that followed was overwhelming and the donations received far exceeded our expectations. We had set ourselves a fundraising target of £5,000 and were wondering whether we would get anywhere near it. Well, it turned out we achieved it three times over, raising around £15,000 with contributions from people in tens of countries on three continents and not just through Maja’s Justgiving webpage, but also directly to Caring Matters Now. It truly was the most extraordinary present our friends and families could give to Maja.

What initially triggered our efforts to raise money for Caring Matters Now was the real and hard work that is being carried out by Dr. Kinsler. In hindsight, we believe it has been our ability to convey to people close to us that this work is really something very special from which our very special little Maja, and others with CMN, will receive a tangible benefit in the future.

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