Rare Diseases and Multiple Sclerosis

Life is a health journey that for some starts by being born with a rare genetic disorder. There are more than 7,000 rare diseases in the world, and 30% of children affected die before reaching their 5th birthday.

Genzyme

Genzyme is committed to discovering and delivering transformative therapies for patients with rare and special unmet medical needs, providing hope where there was none before.

Genzyme focusses on educating Health Care Professionals regarding the diagnosis, screening and management of the diseases we provide treatment for.

All Genzyme employees are passionate about what they do and are committed to making a significant difference in patients’ lives.

Our objectives are to ensure accurate diagnosis of the diseases we help doctors to treat and to raise awareness of the diseases with doctors, other Health Care Professionals, patient organisations and the public.

Genzyme always endeavours to provide a high standard of service to both treating doctors and their patients. Genzyme's dedication to patients extends beyond the development of products. We've initiated numerous free drug and humanitarian programs to ensure that vital treatment reaches all those who need it.

At Genzyme we recognise the need for patients to have access to ongoing support. We have therefore worked with the South African patient organisation to ensure that patients have people to turn to for help and emotional support. The patient organisation can put them into contact with one another so that they can share their experiences and support each other.

We strive to deliver optimal treatment and reimbursement assistance for the following Lysosomal Storage Disorders: Gaucher, Pompe, MPS 1, MPS 2 & Fabry disease as well a drug that is used to monitor patients with thyroid cancer.

Type 1 Gaucher disease (pronounced go-SHAY) is a progressive, genetic disorder that causes many different symptoms. A person with Gaucher disease can't produce enough of an essential enzyme called glucocerebrosidase (pronounced GLOO-ko-SER-e-bro-sy-daze), which breaks down a fatty substance called glucocerebroside.

Gaucher Disease

Without this enzyme, the fatty substance is not broken down, but instead builds up in the cells. These swollen cells are called Gaucher cells.Over time, as Gaucher cells build up in the bone marrow and organs, they cause increasing damage, possibly including bone pain, skeletal damage, enlarged liver and spleen, low red blood cell count, and low platelet count. However, if the disease is recognized early, treatment can begin, potentially preventing irreversible damage.Type 1 Gaucher disease affects approximately 1 in 45,000-60,000 people in the general population. It is more common among Ashkenazi Jews, affecting 1 in 850. Signs and symptoms may appear at any age.

  • Inheriting Gaucher Disease:
    Every person’s body contains tens of thousands of genes that help guide growth and development. Genes determine traits such as eye color and height. We all inherit two copies of every gene, one from each parent. One of these genes controls the production of the enzyme glucocerebrosidase.
    A person develops Type 1 Gaucher disease if he or she inherits two defective copies of this gene (one from each parent). If a person only inherits one defective copy, he or she will not develop Type 1 Gaucher disease, but is considered a “carrier.” A carrier can pass the defective gene to his or her children. With each pregnancy, each carrier has a 50% chance of passing on the defective gene. If both parents are carriers, there is a 25% chance their child will inherit two defective copies and will develop Type 1 Gaucher disease.
  • Treatment:
    It is treated with an enzyme that is administered intravenously every 2 weeks and replaces the enzyme that is deficient.

Pompe Disease

Pompe disease is a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages. Pompe disease is caused by a defective gene that results in a deficiency of an enzyme, acid alpha-glucosidase (pronounced “AL-fa glue-CO-sih-days” and often abbreviated GAA). The absence of this enzyme results in excessive buildup of a substance called glycogen, a form of sugar, in a specialised compartment of muscle cells throughout the body.

Man with a navy jacket one hand in pocket

  • Signs & Symptoms of Pompe Disease:
    Although the effects of Pompe disease vary from patient to patient, some generalisations can be made. Most patients experience muscle weakness in the arms and legs, usually most prominently in the legs, making walking or climbing stairs difficult. Muscles used for breathing may frequently be affected, making it difficult to breathe, especially when lying down. In infants, the heart is usually affected, resulting in greatly enlarged heart and other heart problems.
  • Diagnosing Pompe Disease:
    After examining a patient’s symptoms and reviewing the results of several different tests, doctors may ultimately come to suspect Pompe disease. A conclusive way to confirm this diagnosis is by measuring the activity of the acid alpha-glucosidase (GAA) enzyme, which is always lower than normal in people with Pompe disease. The test used for this is called an enzyme assay. Today, enzyme assays can be performed with simple blood tests that provide fast and accurate results.
  • Pompe Disease Inheritance:
    Although Pompe disease is very rare, it can be inherited, meaning that it gets passed on to people through their parents. If someone is diagnosed with the disease, there is a risk that relatives may also have the disease or be carriers. The symptoms of Pompe disease can emerge very slowly and at any age, so it is possible for someone to have it even if they are not experiencing any apparent problems. Because early diagnosis is so important in managing the disease, families with a history of it may want to consider several testing options.
  • Treatment:
    It is treated with an enzyme that is administered intravenously every 2 weeks and replaces the enzyme that is deficient.

Fabry Disease

Fabry disease is an inherited condition that affects only a few thousand people worldwide. Fabry disease causes a wide range of signs and symptoms that can range from mild to severe and life-threatening.

How Fabry Disease Affects the Body:

Our bodies contain thousands of active substances called enzymes. In people without Fabry disease, the enzyme alpha-galactosidase A (pronounced al-fa-ga-lak-toe-si-daze a), or alpha-GAL, helps the body to break down a fatty substance called globotriaosylceramide (pronounced glow-bow-tri-oh-syl-ser-a-mide), or GL-3.
People with Fabry disease are missing or have insufficient amounts of the alpha-GAL enzyme, which is important in the healthy functioning of organs. The alpha-GAL enzyme is responsible for removing a fatty substance, GL-3, from cells throughout the body. Without enough of this enzyme, the GL-3 substance builds up in cells. GL-3 build-up in kidney cells may cause severe kidney problems, including kidney failure.
People with Fabry disease may experience a wide range of signs and symptoms, including severe conditions such as kidney failure, heart problems, and stroke.
Because Fabry disease is rare and not always well recognised, its symptoms are sometimes overlooked or attributed to other more common conditions. There are, however, a number of signs and symptoms that people with Fabry disease typically experience:

  • Burning, tingling pain in the hands and feet
  • Pain radiating throughout the body
  • Impaired sweating
  • Heat/cold intolerance
  • Skin rashes (angiokeratomas)
  • Corneal whorling (pattern on the cornea of the eye – generally does not affect vision and can only be seen using special eye exam equipment called a slit lamp)
  • Hearing problems
  • Gastrointestinal problems, such as diarrhoea or vomiting
  • Heart problems (including enlarged heart and heart valve problems)
  • Kidney problems
  • Nervous system problems, such as stroke
  • Psychological issues, such as depression

Diagnosis:

A test, called an enzyme assay, measures the amount of alpha-GAL enzyme activity in the blood. If the enzyme is low or absent, a diagnosis of Fabry is confirmed.

Boy with soccer ball

Inheritance:

The Fabry gene is passed on in one of two ways:
1) A father with Fabry disease (Affected Father) will pass the gene onto all of his daughters and none of his sons (see the figure below). The Fabry gene is located on the X chromosome and a man will only pass his X chromosome (which carries the Fabry gene) on to his daughters. His daughters will likely not have Fabry disease but will be Fabry carriers. This is because the daughters' other X chromosome will likely carry a healthy gene that is capable of making alpha-GAL. However, some female Fabry carriers experience symptoms of Fabry disease

Treatment:

An enzyme replacement therapy is available to treat this disease.

Little girl in khakhi dress

Mucopolysaccharidosis I (MPS I)

MPS I is a progressive, debilitating and often life-threatening disease. It is an inherited disorder caused by a deficiency of an enzyme called alpha-L-iduronidase (pronounced al-fa el eye-dur-on-I-dase). This enzyme is required for the breakdown of certain substances in the body commonly referred to as GAG (glycosaminoglycans). As more and more GAG builds up in a person’s body, almost all organs can be irreversibly damaged. Therefore, early diagnosis and treatment of MPS I is important.
MPS I has also been called Hurler, Hurler-Scheie, and Scheie Syndromes. The incidence of MPS I is estimated to be between one in 144,000 births for Hurler Syndrome, and one in 1.3 million for Scheie Syndrome.
Even though many people with MPS I have the same enzyme deficiency, they may experience a wide range of symptoms and many people have different degrees of disease severity. People with the most severe form of MPS I typically suffer from a number of symptoms that worsen over time, including mental retardation. Their lifespan is approximately eight to ten years. Individuals at the opposite end of the spectrum may have symptoms that can be as severe, but they generally have regular mental power and physical build. They may also have a normal life span.

Testing:

There are two methods your physician can use to diagnose MPS I. One of the first steps is a urine test, which can look for abnormally high levels of glycosaminoglycans (GAG). Results are compared to known reference ranges for various ages, to samples from people who do not have MPS I, and to samples from a person who does have MPS I. Most, but not all, people with MPS I have GAG levels in their urine that are higher than people without MPS I. 
However, a urine test is only the first step in diagnosing MPS I: a physician will only know for sure by completing an enzyme test using a blood or skin sample. 
Blood and Skin Cell Tests: A doctor can confirm an MPS I diagnosis by measuring enzyme activity levels in the blood or skin cells. 
In healthy individuals, the tests show white blood cells, serum and skin cells that contain normal enzyme activity. In individuals with MPS I, the enzyme activity is much lower.