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I’m Monica. I fight to make rare diseases known.
Gaucher disease patient Monica tells us what it was like growing up with Gaucher, about her search for treatment, her battle with cancer and how, despite everything she’s been through, she is working tirelessly to raise awareness of the disease by writing, speaking at conventions and volunteering. Here’s her incredible story.
I’m the youngest of three siblings and my mother noticed something strange was happening to me when I wasn’t developing like them. I was very thin with a swollen tummy and I didn’t want to play because my legs hurt. I was always tired and even if I had a small bump I would suffer from haematomas or haemorrhages.
The path to diagnosis
I was diagnosed with this disease when I was only four years old, but not without having to go through a lot of injections, tests, doctors, and wrong diagnoses. Doctors and I went through symptoms of leukaemia, questions on whether I would reach puberty, I even had my leg bandaged despite it not being broken. Doctors continued to try and diagnose my disease and I tried to have a normal life, with the exception that I had to visit the doctor more often than my siblings.
My schooling was not very different to that of my classmates, apart from around 15 days a year when I had to stay at home due to bone problems.
I started growing and reaching adolescence, but my disease also grew with me. The pains were not only in one knee, but also in the femur, hips, and back. These problems became more frequent and aggressive and also meant I could be in bed for up to two months at a time.
Searching for solutions
I continued in the search for solutions. I couldn’t find any until my health took me to the hospital Ramón y Cajal in Madrid. After many tests they told me that the only solution for my disease was a bone marrow transplant because otherwise I would end up in a wheelchair.
My siblings did the tests to see if they could be a possible donor, but unfortunately they were not compatible with me. We got in touch with Josep Carreras Leukaemia Research Institute, but I didn’t find a compatible donor there either. At the time, it made me lose hope because I couldn’t count on the only solution the doctors gave me and my disease was becoming even more aggressive.
A new treatment
I searched for a donor for two years before the hospital in Madrid called me again to tell me they had started using a treatment in Spain for my disease, so we got our luggage and went to Madrid. Unfortunately, it didn’t work out but then on 2nd September 1993, when I was 19, I was given treatment for the first time.
Now, I go to the hospital every 15 days, the nurses inject me and give me the treatment.
Gaucher
Monica
My life changed
From 1993 until 2009 my life changed. I managed to have a decent quality of life, I was able to go out with friends without crutches, have a job, drive, go on holiday, even if just for 15 days at a time because of the treatment. I went from being dependent to independent, my life was now less limited, and I thought that I had won the battle against my disease. Then, in September 2009, I suffered a significant relapse which made it very difficult for me to go out. I spent months in a wheelchair, with pain which even strong painkillers did not alleviate, and I underwent hip replacement surgery.
From then my life changed again. I was dependent on another person again, my work stopped, and going out with friends became less frequent. I suffered from a physical and psychological relapse, which my family and friends helped me to overcome.
After all this you think that nothing else can happen to you, that you have suffered enough and you deserve to be happy. Well, sometimes we’re wrong. Statistics show people who suffer from Gaucher disease are more likely to get cancer. And I did.
In 2015 they operated on me and, after a few months of recovery, once again I can say I OVERCAME IT. I fought the battle against cancer.
Living with my disease today
I have to live with my disease and the limitations it has given me, but thanks to my family and loved ones, who are my biggest support, I live life with a smile. I do my bit when I can, because I believe that my experience could help people in my situation. I write for magazines and newspapers and I’m a speaker at conventions, I even took part in a television programme about rare diseases. I’m also a volunteer at the Association Against Cancer, and a speaker at the Spanish Association of People, and their Relatives, Suffering from Gaucher Disease. I was also a speaker at the Spanish Federation of Rare Diseases. I don’t think that I should hide just because I suffer from this disease. It’s the opposite, we need to make rare diseases known so we are not forgotten.
There’s lots more to tell you about Monica’s condition:
Name: Monica
Living with: Gaucher disease
Location: Spain
First signs & symptoms: Monica’s mother noticed that she wasn’t developing like her siblings when she was very small.
Diagnosed: Aged four, following a number of tests and misdiagnoses.
To learn more about Monica’s rare disease, please visit:
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Thanks to my family and loved ones, who are my biggest support, I live life with a smile.
Gaucher
Monica
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