'I read that they could die, and it was the worst day of my life' - mother's three children diagnosed with the same devastating illness
“It wasn’t until three years of going back and forth to the hospital we got a diagnosis.”
“I went outside and started to cry. I said to my mam ‘I don’t understand’. I went home and googled it and I read that they could die, and it was the worst day of my life.”
These are the words of Aine Mcauley Crosse (44), whose world was turned upside down when her son Darragh, now 11, was diagnosed with mitochondrial disease, an illness which causes physical, developmental, and cognitive disabilities.
Since then, two more of her children, Sean (9) and Lisa (8), have also been diagnosed with the same illness.
“It’s unusual. We’re one in very few families to have so many children with it.”
“At the time we weren’t genetically tested. Myself and my husband now know that we are not genetically compatible.”
Mitochondrial disease is difficult to diagnose, because every patient is affected differently. Darragh and Sean were diagnosed with mitochondrial disease when Aine was already pregnant with Lisa.
“When Darragh was six weeks old, he was crying and we felt there was something really wrong. We took him to the doctor who didn’t know what was wrong either. He decided to take a urine sample, and when he looked at it he discovered that Darragh had a kidney infection.”
“We were sent into hospital and they did more tests. As they looked at Darragh they saw that he was also fisting (closing his hands in a fist).
“We were then told our son has Mitochondrial disease and they can’t cure it. It was a disease we didn’t know they were looking for, or even that it existed, but it was to turn our world upside down.
Aine describes her children, all patients of mitochondrial disease, as “getting old before their time”.
Mitochondria, present in every human cell, are responsible for creating more than 90 per cent of the energy that the body needs to sustain life and support organ function and development. When they fail, less and less energy, is generated within the cell. Eventually, patients’ organs begin to fail.
“Finding it in a young child is not great because the cells are not working in their body. It’s like they’re getting old before their time because there’s no energy in their cells,” Aine explained.
“Darragh’s kidneys and his liver are already affected, and his brain and muscles. He has complex two and four respiratory chain deficienc. Sean and Lisa also have complex four respiratory chain deficiency which also affects their skeletal muscles, organs. Lisa also has a floppy tube in her heart.”
All three children have varying levels of autism.
“Darragh’s is Pervasive Developmental Disorder – not otherwise specified. The autism spectrum is very big, and he didn’t fall into Asperger’s or autism, so it’s parts of both.”
“Sean’s autism is in the middle of the spectrum. He’s very behind intellectually and physically. He can talk but in school he’s in a special unit for kids with autism.”
“Lisa is non-verbal and is in a special school with kids with physical and mental disabilities. She has severe autism.”
Aine wants to raise awareness about mitochondrial disease, since there is little knowledge of it in our country, and hopes that affected parents can come together to form a support group.
“The disease isn’t well known over here. I was given a piece of paper and told to go home and Google it, because it’s not well-known.”
“I’d like to say that I’m here, l am a voice for my children and anybody who needs a voice or a helping hand. They are not alone and have help and support with me and my family. I’d like to start a support group if anyone comes forward.”
“It’s been so hard. Life has been a struggle in every sense of the word. We have to go to Temple Street with them, we have three physiotherapists, three speech and language therapists, and three occupational therapists when we can get an appointment.”
“Our whole life is doctors and appointments and hospitals. More support and help are needed. People should not be left alone with this disease, not knowing what can happen with their children at any given moment. It is not a way to live, more awareness is needed.