A GROUP that aims to help people with rare diseases ‘rewrite their stories’ by changing their lives for the better has been formed in the country.
The ‘Care for Rare’– the first rare disorder support group in Bahrain which opened at Al Jawhara Centre in the Arabian Gulf University (AGU) – aims to understand the needs of those affected and provide the mechanism for a comprehensive care system.
The project may also help with the setting up of a Bahrain registry for rare diseases, alongside the Bahrain Genome Project currently collecting 50,000 samples to establish a national database that will combine data science and technology to improve health services.
A disease or disorder is scientifically defined as ‘rare’ in Europe when it affects one in 2,000 people, while in the US it is fewer than 200,000 Americans at any given time.
The GDN reported earlier on rare diseases in Bahrain including Miller Fusion Syndrome, which attacks the nerves – mainly in the face and limbs, Milroy’s disease which affects ability to walk and Lupus, a chronic inflammatory disease.
However, there are no official statistics on the number of people with a rare disease in Arab countries.
The group, which has been set up as a continuation of the Rare Disease Campaign 2021, is spearheaded by campaign manager and consultant geneticist Dr Cristina Skrypnyk. It aims to draw global attention to rare diseases and widen support with inputs from international experts, including medics, patients and their families.
“Some of the people who are on board are those who have overcome the barriers and beaten the predictions, they are successful in rewriting their stories, which is inspiring,” Dr Skrypnyk told the GDN.
The group aims to meet once in two months and among the projects in the pipeline is a registry of rare diseases in Bahrain.
“We are attempting to ‘develop the European or Western model’ to empower people,” she said.
“The topic (genetics and rare diseases) is such that we need team work and Bahrain being a small country we are hopeful of working efficiently.”
Care for Rare has 16 members on board today, including doctors and people with rare diseases or parents of those affected.
“In this part of the world we are not organised by way of a support group for this category, people are not aware of their rights or power,” said Dr Skrypnyk.
“The platform could also support in setting up the registry for rare diseases, alongside the Bahrain Genome Project.”
According to the latest figures, 100 million people across the world are currently living with a rare disease, while there are more than 6,000 such mystery ailments.
Almost 50 per cent of those affected are children.
Eighty per cent of rare diseases have identified genetic origins while others are a result of infections, allergies and environmental causes.
The official opening of the group was held virtually with a webinar, which was attended by AGU president Dr Khalid Bin Abdulrahman Al Ohali, Princess Al Jawhara Centre for Molecular Medicine, Genetics and Inherited Disorders director Prof Moez Bakheit and College of Medicine and Medical Science dean Prof Abdelhalim Deifala.
“Building a comprehensive care system is critical to rehabilitate patients with rare disorders and support them in leading a better-quality life,” explained Dr Skrypnyk.
“Currently there are no associations for such patients or a national registry.
“There is a lack of guidance and support for patients with rare diseases as these illnesses impact different age groups differently.
“There are also some very rare diseases and no one knows about them. So there is an urgent need to make greater efforts to change this reality.”
Among the invited guests were EURORDIS board member and Romanian National Alliance for Rare Diseases president Dorica Dan, Dubai-based French national Lusine Mehrabi who is an international expert in negotiation and a mother of a child with a rare disease, Bahrain-based Sunshine House Health Rehabilitation Happiness manager Mahin Al Wazzan and Italian-based Pallister-Killian Syndrome founder director Samantha Carletti.
raji@gdn.com.bh
&uuid=(email))