Disease Education

Australia


Learn about the conditions that Genzyme’s products treat, including Multiple Sclerosis and rare genetic diseases. Explore online resources that can help patients make more empowered decisions about their treatment and their health.

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Genzyme strives to address serious medical needs, with special expertise in Multiple Sclerosis and rare genetic disorders. Here's an introduction to our main areas of focus.

Multiple Sclerosis

Multiple Sclerosis (MS) affects around 2.5 million people worldwide. In Australia, it is estimated that more than 23,000 people have MS.

MS is more common in women than in men, with 75% of people diagnosed with MS being women. It is most commonly diagnosed between the ages of 20 and 40.

Environmental and genetic factors are both thought to be involved in the development of MS.

What is MS?

The immune system is a complex defence system that protects the body from infection. Normally, immune cells are regulated so they do not target the body’s own cells, but in MS, some immune cells (especially lymphocytes) mistakenly attack areas of the central nervous system (CNS) – the brain and spinal cord – and cause inflammation. 

The inflammation primarily occurs in the myelin cells that form a protective sheath surrounding the nerve fibres (axons) in a process called demyelination. The inflamed, damaged areas are often referred to as lesions, plaques or sclerosis. Depending on the location of the lesions, different body functions can be affected and therefore MS symptoms can vary greatly.

The short-term episodes related to these lesions are often referred to as attacks or relapses. When symptoms subside between relapses these are known as remissions.

What are the types of MS?

MS varies greatly from person to person. However, there are four categories used to describe the main forms of MS – relapsing remitting MS (RRMS), secondary progressive MS (SPMS), primary progressive MS (PPMS) and progressive relapsing MS (PRMS).

The most common types of MS are RRMS and SPMS.

  • Relapsing-remitting MS - Approximately 85% of people are initially diagnosed with RRMS. The relapsing nature of this type of MS means that a new symptom will appear or existing symptoms will flare up for more than 24 hours at a time. Relapses are typically followed by partial or complete recovery periods (remissions), during which no disease activity or worsening of symptoms occurs. Minor variability in the symptoms experienced from day to day is not regarded as a relapse.
  • Secondary-progressive MS - Over time, many people with RRMS will develop SPMS. This is associated with worsening disability (general decrease in function) and fewer relapses.

What causes MS?

The cause of MS is not fully understood, however a combination of factors are thought to be involved. These include genetic and environmental factors (e.g. MS is more common in parts of the world further away from the equator).

Independent websites

You can find factsheets and booklets about MS as well as educational and emotional care with links to peer support and care services from many patient associations and education websites.

Learn more

Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are a group of more than 40 diseases. Each is caused by a genetic problem that results in the deficiency or malfunction of particular enzymes needed to remove waste material from cells. These waste molecules then accumulate, or are stored, in cell lysosomes (smaller compartments within the cells), disrupting cell function and causing a variety of symptoms. All LSDs are progressive, meaning that without treatment, they worsen over time. Enzyme replacement therapy as well as bone marrow transplantation, organ transplantation, substrate reduction therapy and supportive care are currently available to address the underlying cause of some LSDs.

With LSDs, cells swell as waste builds up in the lysosomes

Each LSD is caused by a different genetic problem and enzyme deficiency. Because these disorders are extremely rare it can be difficult to find information about them. Genzyme has several LSD treatments and is one of the world's leading authorities on LSDs. We produce a variety of materials, both in print and online, to educate about these rare but serious diseases.

Following are some more details about the LSDs that Genzyme currently treats.

Disease Description Learn More At...
Fabry Disease Affecting more males than females, it causes a wide range of symptoms, the most serious being heart and kidney disease. Fabry Disease Treatment Area
Gaucher Disease Often causes an enlarged liver and spleen as well as bone pain and other skeletal problems. Gaucher Disease Treatment Area
Mucopolysaccharidosis I (MPS I)

Varying widely in its severity, it causes joint stiffness and heart disease in most patients and extreme developmental and physical problems in the most serious cases.

MPS I Treatment Area

Hunter Syndrome
(MPS II)

Primarily affecting males, it has many of the same symptoms and variability as MPS I.

MPS II Treatment Area

Pompe Disease Often classified as a neuromuscular disorder, it causes muscle weakness, especially in the legs, hips, and breathing muscles. Pompe Disease Treatment Area

Cancer

Marked by abnormal, uncontrolled, and invasive cell growth, cancer can occur in almost any part of the body. Most cancers take the form of a tumour – a concentrated mass of cancer cells – but some, such as cancers of the blood, involve a diffuse spread of cancer cells.

  • Thyroid Cancer - Thyroid cancer is a tumour in the thyroid gland, which controls the body's metabolism. It can usually be successfully treated with surgery and/or radiation, but requires life-long monitoring because of the high incidence of recurrence; Genzyme has a product that may assist with treatment and monitoring.
Last Updated: 7/23/2014
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F: +61 2 8666 3000

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