In Europe, a disease is rare when it occurs in less than 1 in 2,000 people. A disease can be rare in one region, but at the same time can be more common in another region. There are also common diseases with rare variants. Taken together, there are thousands of rare diseases.
Rare diseases are problematic because of their rarity, they can be serious, often chronic and sometimes progressive. Although almost all hereditary diseases are rare, not all rare diseases have an hereditary origin. For example, there are also very rare infectious diseases, rare autoimmune diseases and rare forms of cancer.
For a long time, rare diseases haven’t received the same attention as other diseases as for example cardiovascular diseases. This had a large impact on the quantity of research into these diseases, but also on determining policies, and development of medicines. For most rare diseases there is no medicine available, but proper medical care can improve the quality of life and prolong life expectancy.
It is often difficult for patients with rare diseases to receive information, to consult the right specialists or to get diagnosed. Their disease remains often unknown. For patients with a rare disease it can be difficult to receive effective, medical treatment. Within Chiesi Netherlands the department Rare Diseases is committed to the treatment of alpha-mannosidosis, nephropathic cystinosis, Leber’s Hereditary Optic neuropathy and β-thalassemia major.
Here below you can read more about these diseases.
Alpha mannosidosis is a rare and severe hereditary genetic disease that results from a lack or shortage of an enzyme in a part of a cell called a lysosome, which has to break down a molecule. When there is no or too little enzyme available the molecule can’t be broken down, it accumulates. Due to this accumulation the cells can no longer do their job and damage to organs occurs. Worldwide, alpha mannosidosis occurs in approximately 1 in 500,000 newborns.
Nephropathic cystinosis is a rare and serious metabolic disease. The disease is characterized by an accumulation of the amino acid cystine in different organs of the body. Not every organ is equally affected by the disease. The kidneys are the first organs to be seriously affected. Worldwide, nephropathic cystinosis occurs in approximately 1 in every 100.000 to 200.000 newborns.
Leber’s Hereditary Optic Neuropathy (LHON) is an disease caused by a genetic mutation in the DNA of mitochondria. Mitochondria are specialized parts of the cell that create energy. LHON is an hereditary eye disease where the cells of the optic nerve no longer work properly. With LHON the vision can suddenly decrease in one eye where the 2nd eye follows rapidly.
β -thalassemia major is a serious and hereditary form of anemia. This congenital illness is caused by a change in the hemoglobin. Hemoglobin is the protein the colors the red blood cells red. An important function of hemoglobin is the uptake and release of oxygen in tissue and organs. With β -thalassemia major no or too little correct hemoglobin is produced which leads to an error in oxygen transport. This leads a number of different complaints that when untreated can be life-threatening. The annual number of children born with β-thalassemia major number of children differs greatly between country and region.