Ria's Story: 'My Brother was Diagnosed aged Three Years Old. It Turned Out My Sister and I Had It Too.'

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Ria Guijt was born in Holland in 1956 and nine years later was diagnosed with Gaucher disease. On several occasions Ria has spoken publicly about the quality of life of Dutch sufferers (see opposite) but this is her own story:

I was born in 1956, the eldest of four children. In 1965 when my youngest brother was three years old, he was diagnosed with Gaucher disease. Unfortunately it turned out that my sister and I had it as well. When I was 20 years old, my spleen was removed.

All three of us suffered from bone deterioration and had to use sticks or a wheelchair. When people saw us as a family, we knew they were shocked.

I must confess that the first time I used my wheelchair was on holiday, on purpose, in a place where I thought no one knew me. I remember that I was fully aware of my situation. I knew I had taken a psychological step backwards but I also realised it was for me to decide if I was to stay at home and pity myself, or do what I had always done before: for instance go shopping with friends but okay from now on in a wheelchair.

It was not always easy. Sometimes I hesitated being pushed by my mother or by a friend or disliked the fuss involved in visiting a museum or somewhere else but we also had a lot of fun. I have a lot of friends and there was always someone willing to push my wheelchair. Everybody knew my limitations and was willing to help.

Every time I told myself: Ria, you are no less a person sitting in a wheelchair or walking on your two legs; you are still the same person.

Starting and Stopping Work

I think our visits to the hospital and getting acquainted with the disease played an important role in choosing my career. I started working full-time as a laboratory technician in a hospital and because I have always been interested in human genetics, I moved to a laboratory of Clinical Genetics in Rotterdam and then to Utrecht.

However during the following years I got more bone pain and became more tired. I also had several bone crises so slowly I had to change my life-style although the pain never stopped me from doing what I wanted. I just did things another way.

Then my physician suggested that I stop working. I was already working part time and I could just barely get through to the end of the week. During the years my illness had become worse. (At that time the only medication available was a form of bisphosphonates). I was shocked: stop work, not yet! But I talked it over with the work physician and he suggested I follow the advice. I wanted to work but I had become unreliable to my colleagues. They had to take over my job more because I was getting worse.

I remember one Friday morning I drove to the lab and thought: 'Soon I won't have to do this any more'. Then I realised I had got used to the idea of finishing work. I decided that same month to ask for my retirement on medical grounds. In May 1989 I stopped working at the age of 33.

I think I was lucky to have had time to get used to the idea; other people have to stop work immediately which must be more difficult for them.

Life Changed

During those months I also realised that although one door had closed there were other opportunities, new things to learn and new ways to explore. This challenge was my way of coping. So life changed.

After my retirement I worked for seven years as a volunteer for the Dutch Alliance of Genetic Support Groups. Patients or families with a disease which does not have a support group called me at home to ask for a contact with another person or family with the same disorder.

I stayed at home but was still involved in my working field. We all know how important it is to have links with others with the same disease.

I have always been interested in how people cope with difficult situations. So in 1991 I started to study psychology as a part-time student. The university is nearby but sometimes I studied lying on my bed.

Enzyme Replacement Therapy

In 1992 I started enzyme replacement therapy: just in time since I did not know if I could continue my studies because of my lack of energy and increasing bone pain.

Like most people with Gaucher disease in Holland, I receive my Ceredase treatment at home. Origin-ally I started treatment at the Amster-dam Medical Centre where I learned to inject myself. I believe home treatment gives me the opportunity to live as normally as possible. At the start I did my infusions three times a week but now I do it once a week.

Although it is not pleasant to stick a needle in your hand, especially when you don't get into a vein and have to do it more than once, I take it for granted as do most people I have spoken to. After a few years some veins may become more sensitive but it is no reason to stop.

Usually I have my infusions when there is someone around. I don't like doing it on my own so on Friday morning a friend assists me.

Another Change

After a few months I realised something was changing. I was not so tired as I used to be. After an outing or visit I was not exhausted. At first I could not believe it. I waited for the blow to come but most times it didn't. Actually the first sign that Ceredase was effective, was that I became thinner as my liver reduced. And then slowly I realised my bone pain was less and my walking distance without pain became longer. Life changed again.

I still have my limitations and I rest for a couple of hours during the day. Very occasionally I get that terrible fatigue and some bone pain but I am not frightened of it any more. I have bone deterioration which cannot be corrected but, thanks to regular physical therapy, I can walk some distance without a stick although I use it to go shopping. I have not used my wheelchair for over a year. Together with my therapist I am still working on my condition and feel much better.

However there have also been new possibilities. I have visited Australia and Thailand and as a member of the European Gaucher Alliance representing Holland, I have attended meetings in different countries. Without treatment I could not have done that. I have also got a part-time job at the Dutch Federation of Patients and Consumer Organisations answering questions about illnesses, treatment and how to build a patient organisation.

My Gaucher disease is not cured and in a way I will always be a patient. However my daily life and quality of life has absolutely changed.

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Source: Gauchers News October 2002.
© Copyright Gauchers Association 2002