Diseases
Alpha Mannosidosis
Alpha Mannosidosis is an ultra-rare disease that is genetically inherited. This condition causes the deficiency of an enzyme called alpha-mannosidase. This enzyme helps break down sugar molecules. When it is not produced correctly, sugars are not properly broken down and they build up, causing damages to different organs. Effects of the disease vary significantly, and symptoms can include recurrent infections, hearing loss, distinctive facial features, muscle weakness, skeletal and joint abnormalities, or cognitive impairment.
You can find more information on the international website alphamannosidosis.com/en and on the U.S. website discoveralphamannosidosis.com
Thalassaemia
Thalassaemia is an inherited disorder that affects the body’s ability to produce haemoglobin. The are different types of Thalassaemias, the most severe is Beta-Thalassaemia. People living with this condition need frequent blood transfusions. Thalassaemia can lead to many health problems, such as enlarged spleen, bone deformities in the face and skull, and to an accumulation of extra iron in the organs after repeated transfusions, especially in the heart and liver.
You can find more information on the international website ourironwill.net/en and on the U.S. website ourironwill.com
Fabry Disease
Fabry disease is a lysosomal storage disorder caused by a genetic mutation resulting into the deficiency of the enzyme called alpha-galactosidase. As the enzyme is not working properly, there is an accumulation of a type of fat called globotriaosylceramide in various cell types throughout the body. This can result in multisystemic disease, mainly affecting the kidneys, heart, and nervous system. People living with Fabry Disease can experience different symptoms including burning pain in the hands and feet, chronic fatigue, gastrointestinal problems and inability or decreased ability to sweat.
You can find more information on the international website rethinkfabry.net and on the U.S. website rethinkfabry.com
Cystinosis
Cystinosis is an ultra-rare, progressive, multisystemic disorder caused by an inherited genetic mutation. In people with cystinosis, an amino acid called cystine builds up in a part of the cell called the lysosome, and the cells are unable to remove it. When cystine builds up, it forms crystals within cells that can cause progressive and irreversible damage to all organs, including the kidneys, eyes, muscles, pancreas, and brain.
You can find more information on the international website discovercystinosis.com/en
Leber’s Hereditary Optic Neuropathy (LHON)
Leber’s Hereditary Optic Neuropathy or LHON is a rare inherited condition that results in rapid loss of the central vision, the one needed to read, drive, recognize the faces of the people. In most cases, LHON is caused by a genetic mutation of the mitochondrial DNA. The mitochondria produce the energy for the cells. In LHON, this energy is not produced properly. The cells of the optic nerve are those needing more energy and therefore are the ones affected by the mutation. As a result, people with LHON experience a rapid, painless blurring and clouding of central vision that starts in one eye, and then it also affects the fellow eye often leading to legal blindness.
You can find more information on the international website lhonaware.com/home