
My adult life On my 21st birthday, I had trouble from severe pain in my groin. The doctor could not find anything unusual and said that had to go back after half a year. After this half-year, both my hips were so badly damaged by Gaucher that I had to have artificial hip joints on both sides. After the operation, I got a very high temperature that they could not treat in any way due to my disease. But when this fever finally subsided, my recovery then went smoothly. Most doctors know little of Gaucher disease since it is so rare. It has happened to me often that I went to the hospital for a check-up and that a doctor’s assistant looked in my file and said: ”Oh, Gaucher disease, I don’t know so much about that. Can you come back again in three weeks, so I can read something about it first”. This did not really inspire faith. The birth of our daughter was also an experience. I don’t know if there have ever been so many people in the delivery room at the same time. Gynecologists, internists and all kinds of other doctors were there. No one knew what they should expect. I remember that at a certain moment one of the gynecologists said somewhat disappointedly that he was going back to the outpatients department because everything was going completely normally. When our child was born, everyone congratulated me. Fortunately it was apparent very quickly that she did not have the disease, although my husband is also a carrier of the Gaucher gene. In the years after this I still did not get any treatment, but I tried to make as much as possible of my life. I very much enjoyed my little daughter, but when I went to work at any particular time, maar ik I certainly noted that I was quickly tired. Sometimes I was troubled by back pain since my vertebrae had been damaged by the Gaucher disease. Also, my liver was enlarged. In 1991 my hips were replaced again.

My adult life

On my 21st birthday, I had trouble from severe pain in my groin. The doctor could not find anything unusual and said that had to go back after half a year. After this half-year, both my hips were so badly damaged by Gaucher that I had to have artificial hip joints on both sides. After the operation, I got a very high temperature that they could not treat in any way due to my disease. But when this fever finally subsided, my recovery then went smoothly.

Most doctors know little of Gaucher disease since it is so rare. It has happened to me often that I went to the hospital for a check-up and that a doctor’s assistant looked in my file and said: ”Oh, Gaucher disease, I don’t know so much about that. Can you come back again in three weeks, so I can read something about it first”. This did not really inspire faith.

The birth of our daughter was also an experience. I don’t know if there have ever been so many people in the delivery room at the same time. Gynecologists, internists and all kinds of other doctors were there. No one knew what they should expect. I remember that at a certain moment one of the gynecologists said somewhat disappointedly that he was going back to the outpatients department because everything was going completely normally. When our child was born, everyone congratulated me. Fortunately it was apparent very quickly that she did not have the disease, although my husband is also a carrier of the Gaucher gene.

In the years after this I still did not get any treatment, but I tried to make as much as possible of my life. I very much enjoyed my little daughter, but when I went to work at any particular time, maar ik I certainly noted that I was quickly tired. Sometimes I was troubled by back pain since my vertebrae had been damaged by the Gaucher disease. Also, my liver was enlarged. In 1991 my hips were replaced again.