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Second Rare Disease Day for Bermuda

“Together we are strong.” Families celebrate Rare Disease Day to recognised their loved ones’ overlooked illnesses. (Photograph by Sekou Hendrickson)

Families whose loved ones suffer from rare medical syndromes recognised their solidarity for Rare Disease Day.Tanya Dyer, who last year called for the day to be recognised nationally, said that she was “overwhelmed” to watch her rare disease group grow from two families to 15.She added: “A friend of mine told me ‘Tanya you did it, you got everyone together’, but this was a group effort.”Rare Disease Day, which is observed in 80 countries, uses the last day of February to recognise people living with unknown or overlooked illnesses. Jessie and Thaddeus Murdoch, from Pembroke, said that they observed the day to honour their four-year-old daughter, Lucy.Ms Murdoch, 33, explained that their daughter suffered from CDKL5 Deficiency Disorder, which affects one in every 75,000 people.The disorder occurs when a protein crucial for neurological development is not properly produced.Ms Murdoch said that Lucy’s CDD left her with developmental challenges including epilepsy, visual impairment and an inability to move or speak.She added: “No baby book has a chapter about what it’s like to have a doctor tell you your infant will likely never walk, talk, or maybe even hold her head up.”The Murdochs said that they gave Lucy cannabidiol, which has been shown to improve CCD seizures, to help manage her epilepsy.They added that, despite her disorder, Lucy was still a happy and fun-loving girl. Ms Murdoch said: “She brings out the best in us, including her baby brother, and with her we have seen some amazing acts of kindness and met some fantastic people.”Naimah Frith, 23, said that she was one of 0.02 per cent of the global population who suffered from Marfan’s syndrome.She explained that the genetic disorder, which targets connective tissue, made her susceptible to complications with her eyes, lungs and heart.Ms Frith added: “Having a rare disease is particularly challenging as the only person that I knew could relate to me was my late father, Patrick Frith, who also had Marfan syndrome.“Despite the isolation, I have learnt to adjust to any physical discomfort.”Ms Frith, from Sandys, said that she had learnt to become her “own best advocate” and educate people about the disease.She added: “My hope is that through bringing awareness not just to Marfan syndrome, but to all rare diseases that more people will know the signs and fight for victory.”Chaiya Smith-Dyer, 16, said that she has steadily learnt to cope with the symptoms of her Turner’s syndrome.The CedarBridge pupil from Pembroke said: “I’ve been giving myself insulin shot over and over so it just feels normal now.Chaiya’s mother, Safiya Dyer, said that her daughter suffers from learning disabilities, infertility and pancreatic failure as a result of the syndrome.Turner syndrome affects as many as 1 in 2,000 girls and happens when one of the X chromosomes is partially or completely missing.Despite of this, Ms Dyer said that her daughter had still been counted as one of the lucky girls who were born with the disease.Ms Dyer explained: “98 per cent of babies conceived with Turner’s don’t make it. We are glad that Chaiya is one of the two per cent.”Tanya Dyer said that she hoped to put together a function next Rare Disease Day to raise awareness about uncommon medical conditions.She added that she hoped the day would be recognised by the Bermuda Government within the coming years.