Scots dad desperate to help baby girl diagnosed with 1 in 10,000 rare genetic disorder
dailyrecord.co.ukA Scots dad is desperate to get the help his baby girl have a good quality of life after being diagnosed with a 1 in 10,000 rare genetic disorder.
Danny Fitzgerald, from Dunfermline, Fife, and his wife Brooke, were left "shocked" and "heartbroken" when they discovered their 11-week old daughter Violet had type 1 Spinal muscular atrophy (SMA) - the most severe prognosis for symptoms and life expectancy - just a few weeks ago.
Baby Violet could be left with weak muscles and movement problems, as well as feeding and breathing difficulties, that she will have to battle with for the rest of her life.
Danny, 32, told the Record: "Brooke had an uncomplicated pregnancy and delivery, and when Violet was born nobody noticed anything and she seemed perfectly healthy, but they don't test for SMA."But when she was five weeks old we noticed the strange positioning of her arms and she generally had less movement than other newborn babies."We got her checked over and the doctor send off blood samples just in case, and because there is a 1 in 10,000 chance we were trying to tell ourselves there was no way she would have SMA."After a heartwrenching two-week wait we found out, unfortunately, Violet has been very unlucky and she might not survive beyond the first few years of her life."Danny and Brooke, who live in the Cayman Islands, had to move fast after the diagnosis to give Violet the best possible chance with early treatment.With no specialist able to help there, they got on a plane to Philadelphia in the United States, where Baby Violet was given a $2.2 ground-breaking drug called Zolgensma on February 15, which will hopefully keep her from needing feeding tubes and ventilators for the rest of her life."We don't know what will
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