Marigold Foundation launches support group for rare disease sufferers
Some 600 different rare diseases are present in Malta, for which a cure is not available, and whose devastating effects often affect not just patients but entire families that are left with little community support
17 February 2016, 1:54pm
The foundation is helmed by Prime Minister Joseph Muscat’s wife Michelle Muscat. Muscat said the rare disease support group had been one of the causes the foundation had worked upon over the past two years.
Muscat said the alliance was being formed in honour of her mother, who had passed away some five months ago. “Sadly these illnesses often have no cure and patients have to learn to live with it, without any hope of a cure or even support in some cases,” Muscat said, explaining that such illnesses were sometimes very difficult to diagnose let alone treat.
She said that there were over 600 cases of rare diseases in Malta, which include hereditary diseases like Cystic Fibrosis, and that the group sought to give patients and their relatives a platform to interact with people going through similar experiences. The alliance would also serve to keep a record of the prevalence of rare diseases.
“We will not presume to be able to provide financial aid,” Muscat said, noting that medications were so expensive that not even governments could afford them. She said that the alliance would seek to offer any other necessary support and push for the development of medication or cheaper treatments for those in need.
A rare disease is any disease that affects a small percentage of the population.
Most rare diseases are genetic, and are present throughout a person’s entire life, even if symptoms do not immediately appear. In Europe a disease or disorder is defined as rare when it affects less than 1 in 2,000 citizens.
Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease.
Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis.
While an individual disease might be labeled as “rare”, the total number of persons in Europe suffering from one of the over 6,000 different identified rare diseases is estimated at over 30 million.
Rare diseases not only affect the person diagnosed – they also impact families, friends, caretakers and society as a whole. An individual rare disease may affect only one person in a million, but all together, rare disease patients comprise 6% to 8% of the EU population.
Rare Disease Day 2015 Ambassador Sean Hepburn Ferrer – son of famous Hollywood actress Audrey Hepburn, who passed away from a rare type of cancer, Pseudomyxoma adenocarcinoma – was also present. “Out of my own experience, my family had felt isolated and helpless because we couldn't offer help or comfort despite all the work she had done in her own life to make people’s lives better,” he said, adding that the possibility of sharing this experience would have been a great comfort to him and to his family.
“Over 50% of these rare diseases are related to genetics,” he said, adding that although the rare diseases alliance could not work miracles, it could be conducive to a better future and a better understanding of these diseases. “Due to the acceleration of technlogy, I thnk we will be able to start to access the genomes behind these rare diseases sooner than we think,” he said.
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