Fighting for help for my terminally ill child
Gina Grant's son Francis suffers from a rare illness and requires around-the-clock care. His illness is terminal and there's no cure, yet Gina has to fight constantly to get services for her beloved child
Published 28/07/2014 | 02:30
Gina Grant sits on the sofa of a smart Dublin hotel and seems quite calm even though Francis, her disabled, five-year-old son, is thrashing about next to her. At one point he becomes inconsolable and noisy; she has her work cut out trying to manage the episode. It turns out he's building up to a seizure; one of the many he has every single day.
She talks soothingly to him and strokes Francis with gentle hands. When he calms down, she puts on his leg and arm splints, then she sits him into his pint-sized wheelchair, being careful to use the shoulder straps that keep him from flopping over. Some of the other guests smile at Gina and make way for them as they leave the hotel. Who would not feel compassion for this woman and her fragile son?
Yet, if the truth be known, what they have just witnessed is but a little acorn that becomes a big, shadowy oak tree. For Francis has a complicated, debilitating illness and will probably not survive into adulthood. And even though Gina has to live with this unspeakable prospect, and even though she takes care of him around the clock, day-in, day-out, from one end of the year to the next, she is still forced to fight for many of the services Francis needs.
Her harrowing journey began soon after Francis was born in their home town of Letterkenny. "Though the pregnancy was normal, a few weeks after his birth it became obvious that he wasn't developing properly," says Gina. "He couldn't suck normally and he wasn't fixing and following with his eyes, or moving his legs."
And though she took him back for medical examinations, she got nowhere. "Because his big brother Christopher has Down syndrome, they thought I was being over-cautious with Francis," she says. "They said his slow development was a variation on normal and that by the following week he could be flying. But he wasn't."
Francis continued to have feeding and developmental problems. So at five months he was tested again, and yet again he was deemed to be within "acceptable limits", even though he was vomiting and still couldn't latch on. "By then I was a walking zombie," says Gina. "And, given that all-clear, I started to query my own mental health."
In desperation, the Grants took Francis to Derry for a second opinion.
"I said to one of the doctors, 'you open him up if that's what you have to do to find out what is wrong with him.' I was that desperate," Gina says.
But this time they got a very different response, when they learned their baby had "big problems".
When Francis was 11 months old he was seen by a team from the Central Remedial Clinic (CRC) in Dublin, who referred him on to Temple Street Children's Hospital. "They did loads of tests, but it still took two years to get a diagnosis of mitochondrial disease (MC) and all that entails," says Gina.
Perhaps the easiest definition of this complex disease comes from the Mayo Clinic in the US, which is doing research in this field. Their website says, "mitochondrial diseases occur when the structures within a cell (organelles) that produce energy for that cell, malfunction."
In other words, the body just doesn't produce enough energy to power the cells that make up tissue within the organs and muscles, and that leads to a host of serious problems.
"It's a neuro-degenerative disease," explains Gina. "It was only identified in the past 15 or 20 years. MC can cause muscle spasm, constant seizures, poor growth, heart, lung and liver problems. In simple terms, Francis's body can't sustain daily living, so, if he gets really sick, he will struggle to recover. There is no cure, no treatment and all we can do is manage the symptoms. He probably won't live past his 10th year."
Gina says it's a "most terrible thing" to get a diagnosis like this.
"It's a chest-crushing thing to hear your child has a terminal illness. I worried that his illness and death would consume the whole family [Gina and her husband Eddie have six children]. Then I worried that his death would be a relief for the children, but later on they would feel guilty about that," Gina says. "And how am I going to explain to Christopher, who has Down syndrome, why his brother, who he loves so much, has to go? I know of four children in Ireland who have died of MC in the past 14 months - two of those families have now lost a second child to the disease."
Currently, Gina is thrilled that her youngest son has shown significant improvement. "Francis has come on great this past year," she says. "He's very noisy and opinionated in his own world. Since Christmas, he's started to recognise me, Eddie and the family. Unfortunately, he can't go to school because there are no medical assistants, and there is no respite for children with high medical and physical needs. There is also a lack of hospice facilities throughout Ireland."
She says there are about 30 confirmed cases of MC in Ireland; most families support each other.
"I'm not going to cry when I say this, but when we got his devastating diagnosis I didn't think I would have to fight for Francis's care as well," Gina says. "We're asking for pre-school services for children with high physical and medical needs. We need hospice care. You shouldn't have to ask for hospice care in your own county. If you have to face your child's death, you should be able to do it in the county where he was born and reared. We feel so devalued; it's so demoralising having to beg all the time, having to say 'please, please, please'."
Gina's greatest wish right now is that Francis will, one day, become part of a dedicated, well-funded programme researching this baffling illness, so that his probably short, painful and troubled life is not in vain.
"Most of what they know comes from post-mortems and that's not right," says Gina. "Doctors want to help their patients but they don't know how to do this because not much is known about MC. They have made some progress in Philadelphia but that's all there is. Some doctors are afraid of Francis, because he's so incredibly complex. Doctors should be funded to do research and they should be allowed to attend conferences about MC.
"We're not asking for an immediate cure, but we are asking to be part of research that will allow doctors to understand this illness, so other children don't have to die like ours most probably will."
Email Gina Grant at firstname.lastname@example.org