Bermudian rare disease sufferer featured in Times Square
A young Bermudian living with a rare disease is being featured on a giant screen on Times Square in New York City.
The young man, who wishes to remain unnamed, is featured among others in celebration of Rare Disease Day tomorrow, the last day of February.
A non-profit organisation called Beyond the Diagnosis was created to bring about awareness of some of the syndromes.
About 500 portraits have been painted of young people chosen by an artist to represent their rareness. The portraits travel throughout the US to medical facilities and hospitals, and are displayed along with the name of the symptom.
The big screen at Times Square is currently displaying the portraits as well as information about the non-profit.
Tanya Dyer, the mother of the featured Bermudian, said: “In Bermuda a group of families stay connected to share challenges of their rareness. This group is known as ‘Together We are Strong’.
“Many individuals living with a rare disease feel isolated and left behind because of the scarce information available, insufficient expertise in the healthcare sector and a lack of understanding among friends and peers.
“Many face discrimination, exclusion and stigma at work, at school or in their social interactions.
“Among the challenges in Bermuda is ongoing medical care due to limitations or lack of insurance, especially when the child becomes an adult. Some are not able to work a steady 40 hour week as each day can be a challenge due to the syndrome.”
• Scleroderma – rare connective tissue disorder
• Ichthyosis and related skin types – Netherton’s Syndrome (non-profit – First Skin foundation)
• Marfan Syndrome – (non-profit The Marfan Foundation)
• Turner Syndrome (Mosaic) with Diabetes
• Ehlers Danlos Syndrome Type 3 – connective tissue disorder
• Arterial Tortuosity Syndrome – connective tissue disorder and Keratoconus (non-profit - A Twist of Fate)
• CDKL5 deficiency disorder and epilepsy
Ms Dyer said a concern shared among those living with rare diseases, their families and doctors, is that when they go to ER and no one is there to identify or share information of the patients’ rare syndrome, care may not be administered as required such as being intubated appropriately especially if the syndrome is a connective tissue disorder. There may be a misdiagnosis.
She added: “A bracelet would be great to have, like a diabetic, with a chip that could be scanned so the hospital can retrieve information of a rare syndrome.
“Ever since my son was ill at 12 weeks old, his paediatrician kept telling me that I was the number one doctor, basically the caregivers, mothers, fathers are the best doctors.”
She hopes that recognition of Rare Disease Day can be implemented in Bermuda and a proclamation be established.
She said: “When you have a rare disease you face two battles – one being the illness and the other living in a world where so few people understand what you are up against.”
Rare Disease Day falls on February 28 this year.
• There are approximately 7,000 rare diseases in children
• The zebra is the official symbol of rare diseases in the United States – it is noted for its black and white stripes which are central to its uniqueness
• 72 per cent of the diseases are genetic and almost one out of five cancers is rare
• Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment
• Rare Disease Day raises awareness for the 300 million people living with rare disease around the world and their families and carers
• The long-term cause of the Rare Disease Day campaign is to achieve equitable access to diagnosis, treatment, health and social care, and social opportunity for people affected by a rare disease
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