"No family should have to experience loss in order to have their voices heard. There are grave consequences if sickle cell is not dealt with on time."
Sickle cell disease (SCD) is the most common genetic blood disorder in the world, most prevalent among people of colour.
On World Sickle Cell Awareness Day, doctors, patients and grieving families are calling for increased awareness of the disease in Ireland.
SCD is inherited from parents who both carry abnormal hemoglobin protein where red blood cells are sickle shaped, rather than disc shaped.
This lifelong disease can block blood vessels, which can then cause an acute deterioration, commonly known as a sickle cell crises - which can lead to organ damage, stroke and even death.
Living with SCD is often consumed by pain management. Joint pain, high blood pressure, jaundice, ulcers, and compromised eyesight are common.
The number of people with sickle cell disease in Ireland has grown as the population becomes increasingly diverse. There are approximately 800 patients in Ireland.
In 2023, 22-year-old Reme Onolememen died from complications related to sickle cell disease in St James's Hospital.
Reme's mother, Esther, said her family's experience of living with sickle cell disease in Ireland has been defined by barriers to healthcare and as a result, patient self-advocacy has been crucial.
Esther, who is the founder of support and advocacy group Sickle Cell Society, said that hospital visits were difficult when Reme was a child as doctors were often unfamiliar with SCD.
Reme's sister Debbie also has sickle cell disease and has recently recovered from a sickle cell crises while studying abroad.
She said she does not feel listened to and there is a knowledge gap within the health system, regarding SCD.
"No family should have to experience loss in order to have their voices heard. There are grave consequences if sickle cell is not dealt with on time," she said.
Professor Corrina McMahon, consultant in haematology at Children's Health Ireland, Crumlin, said Ireland is an outlier when it comes to screening newborns for SCD.
"Our children are at risk of dying without even knowing they have sickle cell disease. That is the reality," she said.
Newborns with sickle cell disease are increasingly vulnerable to sepsis and are twice as vulnerable to stroke.
I was born with sickle cell trait. I inherited one sickle cell gene and one normal gene.
I know this because I was born in the UK, where newborns are tested.
Sickle cell disease is not included in the National Newborn Bloodspot Screening (heel prick) Programme, which currently screens for nine conditions three to five days after birth.
In 2019, a proposal was submitted to the Department of Health for Sickle Cell Disease to be included in the Newborn Screening Test.
"Pretty much everyone has agreed that because sickle can cause death within the first three months of life from infection, you need to diagnose early," Prof McMahon said.
"Everyone else is Europe has adopted that consensus, except Ireland," she added.
Asked if screening newborns for SCD will be included in the heel prick test, the Department of Health said progress is being made on expanding the screening programme, but assessing conditions involves "time intensive and rigorous processes".
Currently the main treatment for SCD is stem cell transplant, which is not available for SCD patients in Ireland.
The HSE said it is working on developing a Model of Care for people with hemoglobinopathy, including sickle cell disease.
Sickle cell disease also presents another challenge.
Many patients feel they live with a sense of stigma and feelings of isolation.
Former Miss Universe Ireland Aishah Akorede competed in the last series of Dancing with the Stars. On the show, she spoke about her experience living with sickle cell disease and her hopes to raise awareness.
She said that she hopes for more understanding.
"Hospitals, friendships, schools, teachers, workplaces. So that more people can feel more confident to be like - yeah guys, I'm in a lot of pain right now. Or won't feel like a burden either."
