Real Voices: Elaine
Meet Elaine, who lives with a metabolic disorder called Gaucher disease
Who are you?
I’m Elaine, I’m 52, I was born in England and I now live in Israel.
How do you explain Gaucher disease to others?
It’s like having a recipe for a cake, but by mistake you add a cup of salt instead of a cup of sugar: so it looks just like any other cake, but as soon as you taste it you know that there’s something terribly wrong. A Gaucher patient can look like anybody else, but there is something wrong inside. The enzyme [glucocerebrosidase, which breaks down a type of lipid] that our body is not making enough of is a pretty important one.
When were you diagnosed?
I have four older brothers, two of whom have Gaucher disease. When I was five years old it was already quite clear that I was ill. My brothers were diagnosed first so it was pretty clear what I had – it was just a matter of doing one test, which was a sternum puncture at the time.
How did it affect your life before you had treatment?
From a very young age, I was pale, thin and anaemic; I had a very distended stomach due to the spleen and liver, which were grossly enlarged. I would get tired very quickly and often be in pain. Between the ages of 11 and 14 I was in and out of hospital a lot with various bone crises in different parts of my body. When I was 14 I had my spleen removed because it was so large – 2 kg in weight, whereas a normal spleen should be about 100 g.
I started on the treatment about 24 years ago. I have the treatment at home once every two weeks, it’s an IV drip that takes one-and-a-half hours.
How does it affect your life now?
I still suffer from a certain amount of disease and I have a lot of bone pain, but that is because the treatment came out just a little too late for somebody of my age.
What’s the hardest thing about having it?
The majority of people do not know what it is and it’s very frustrating having to explain again and again what you have. And when you go to a new doctor, the odds that they have heard of Gaucher disease are very low. It’s an uncomfortable feeling when you know that the people who are looking after you don’t actually know about the disease.
Where do you go for support?
My husband and I were part of the initial committee that formed a Gaucher patient association. Until then I had no contact with another Gaucher patient apart from my two brothers, so when we got the association going it was wonderful to meet other people. Since then it’s gone from strength to strength, and I’ve met fellow sufferers from around the world.
Gaucher disease: the essentials
- How common? Gaucher disease is the most common lysosomal storage disorder. There are three main types. Type 1, the most common, affects 1 in 100,000 in the general population, although it is more common among the Ashkenazi Jewish population (1 in 850). Types 2 and 3 are much rarer – both affect under 1 in 1,000,000 people.
- Major effects: In type 1 disease: enlargement of the spleen and liver, anaemia, and susceptibility to bruising. Bone abnormalities, such as fractures, arthritis and bone pain, are also common. Life expectancy for people with type 1 disease is variable: some die in early childhood from Gaucher-related health problems, while those with less severe disease can have a normal lifespan. Types 2 and 3 both involve symptoms affecting the central nervous system as well as those listed above, including abnormal eye movements, seizures and brain damage. In type 2 disease, these problems develop in infancy. The rapid progression of life-threatening symptoms means that infants usually live for two to four years. In type 3 disease, symptoms tend to worsen more slowly and life expectancy is around 30 to 40 years.
- Cause: Inheriting two mutated copies of the GBA gene, which encodes an enzyme called glucocerebrosidase. This enzyme breaks down a lipid called glucocerebroside. In Gaucher disease, the enzyme is inactive or less active than it should be, allowing glucocerebroside to accumulate in the spleen, liver, bone marrow and in some cases in the central nervous system. This accumulation causes the symptoms of the disease.
- Real Voice – Elaine PDF [PDF 82KB]