Family in plea to test for rare illness as little Juniper awaits life-saving surgery in the UK
The family of a baby diagnosed with a rare and life-threatening genetic immune deficiency disorder is calling on Health Minister Simon Harris to introduce screening for the condition at birth.
Just before Christmas the couple, from Co Wicklow, were given the devastating news their six-month-old daughter Juniper had Severe-Combined-Immunodeficiency (SCID).
It has left Juniper with practically no immune system and an inability to fight off any infection.
She is currently waiting to be transferred to the UK, where she will receive a life-saving bone marrow transplant.
While the condition is not currently screened for in the baby heel prick test in Ireland, countries including the US, Canada, New Zealand and Taiwan have introduced screening for SCID.
Juniper’s parents, who asked to remain anonymous, said pilot studies are being conducted in the UK, Netherlands, Israel and Australia.
“Early research also suggests that it is more cost effective to the healthcare system to diagnose and treat SCID early,” the family said in a statement.
“Although our focus is on getting Juniper better, we want to raise awareness of SCID as the earlier it is diagnosed, the better the outcome and we want other families to avoid what we have been through.”
In Ireland, the majority of SCID cases are not diagnosed until the baby develops symptoms of infection.
Babies diagnosed late, and with infection, have a 70pc survival rate after treatment.
Infants diagnosed and treated before three months, before they have acquired any infections, have a much better chance of survival, greater than 90pc.
The family have now started an online petition, which gained 1,000 signatures in the first 48 hours.
The incidence of SCID in Ireland is around one in 37,000 children, equating to one or two cases a year.
Juniper’s family argue this makes it more common than half the diseases currently included in the heel prick test.
Like Juniper’s parents, the majority of adults are unaware that they carry this defective gene until they have a child diagnosed with SCID.
The Department of Health did not respond to a request for comment.
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