Seriously ill Lucy Gallagher is such a determined baby that her parents have told how they have great hope a cure will be eventually found for her condition.
Lucy, 17-months-old, was featured on television for the first time on Monday night, and her mother, Carleen, said she was looking forward to Lucy’s story being told to give heart to other families with children with additional needs.
It’s a heart-moving story. Lucy, an only child, has a rare and life-threatening skin condition which affects fewer than 100 patients worldwide. She is the only one battling it in Ireland.
Lucy, who lives in the Donegal Gaeltacht, has Harlequin ichthyosis, a genetic disorder that means her body generates too much skin – 14 times as much as grows on other people – and it forms a kind of armor plate around the body.
The thick skin pulls tightly and causes constrictions. Lucy’s fingers, eyes, mouth, and ears are most affected.
The skin contains massive, diamond-shaped scales, and tends to be flaky and red.
Carleen, 31, said, “At present the skin is in good shape, but that can come and go. The skin on top of her head pulls at the eyelids.”
Lucy has already had several eye surgeries and has undergone cosmetic surgery to give her a new pair of eyelids.
“Harlequin icthyosis patients remain very small and petite, even as adults,” Carleen said.
Lucy has to be tube-fed for 12 hours through the night. She is still struggling to speak because of her condition but does utter “dada” to her father, Gary, 32, an electrician who is now a full-time carer for the girl at their home in Maghery, near Dungloe.
Lucy’s life featured in RTE television’s "Nationwide."
“She has limited access to playmates because of the risk of infection. At the same time you can’t have her living in a glass box and she does get to play with her cousins from time to time,” Carleen said.
“We love her dearly and we want to continue enjoying her. She is a very determined baby. We continue to be hopeful that a cure will be found.”
In the past the disorder was always fatal, with the most common cause of death systemic infection. Sufferers rarely survived for more than a few days.
However, medics now say there have been improvements in care and Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal, and that the number of survivors is increasing.
The oldest patient with the condition is British resident Nusrit “Nelly” Shaheen, who is 30. She lives an active lifestyle and studied sports coaching and leadership.
In the U.S., Stephanie Turner, 21, was the first ever woman living with the disease to give birth. Her son does not have the disease.