Helping little Alexis reach her potential
PDH deficiency has a huge affect on Alexis O'Mahony's life. She faces major challenges, but Tadhg Evans found that the 'Jack and Jill' Foundation is among those helping out
If the day you take your first steps isn't the most important of your life, it ranks highly.
You take one step, then another. They brings smiles and cheers from those around you.
But the excitement melts away quickly. Walking is taken as a given from very early on.
For someone living with a genetic condition such as PDH deficiency, your family will celebrate your first steps for as long as they live.
Alexis O'Mahony is three years old and hasn't taken her first steps yet. It may take another few years. It may never come to pass.
She can move herself from one part of a room to another. Her dad, Steve O'Mahony, shows a video of his girl, face down, using her arms to push herself backwards around their sitting -room floor in Killarney's Woodlawn.
The process is slow. For a viewer, it's at once upsetting and uplifting. Upsetting because she can't yet do what most three-year-olds do so naturally; upsetting because it reminds one she has already faced having Cerebral Palsy, poor muscle tone, dislocated hips, and acute feeding difficulties.
Uplifting because it shows grit, and awareness that she has the power to move. Uplifting because it's a victory over a life-limiting condition.
"Anything is possible," Steve says. "Maybe she'll take two or three steps when she's 10. Maybe she'll never walk. But there's no point thinking about that. My wife Teresa and I, and all the people helping Alexis, are just focussed on her reaching her potential, whatever it may be. What she's doing now, pushing herself around, might not have been possible before. It shows she has energy and fight, and awareness that she has this power.
"Her sight has improved. Because of having PDH deficiency, she has a brain abnormality, which affects her eyes. Before, she would never make eye contact. Now she recognises some people, some shapes and colours.
"With a cortical vision impairment, there is scope for improvement, and a lot of work has been put in by people to achieve that. And because she now recognises some shapes, some colours, it gives her motivation to move towards those things."
"One of the people helping us with her vision found that Alexis only recognises the colour red," mom Teresa says. "In the past few weeks, Alexis has started to recognise purple. That, for us, is a huge thing."
With evening slowly turning to night outside, bright-orange salt lamps light the room for now. The rattle of wind-chimes, a huge hit with Alexis, billow from a recording Steve has on his phone. Every part of the ambience is designed to stimulate Alexis' brain.
PDH deficiency is a metabolic disease that makes it difficult to break down nutrients in food, and is characterised by the build-up of lactic acid and a range of neurological problems
Through peg-feeding, Alex nowadays receives a precise ketogenic diet - high in fat and free of carbohydrates - to control epilepsy. The garage adjoined to their home is loaded with equipment needed to help Alexis reach her potential.
Being truthful, it's hard to keep tabs on all the information the couple shares about Alexis and her fight.
It shows that day-to-day life is hugely challenging, certainly. But their attention to detail is pinpoint, a testament to their love for Alexis and their commitment to helping her.
Signs of progress are there, and they're impressive. During the first 16 months of her life, Alex made 12 trips to Temple Street Hospital, the centre-point of her treatment. These days, she can often go the maximum three months between her week-long stays.
The family hasn't done it alone, as such a thing would require strength beyond the remarkable. In the past week alone, the family has received assistance from the Kerry Intervention and Disability Services (KIDS); a physiotherapist in Farranfore; Enable Ireland; Resistance Ireland; a public-health nurse; and a Clinical Nurse Consultant.
"That wouldn't even cover everyone," Steve says. The focal point in keeping touch with day-to-day normality, a source of ten hours' respite a week, is the 'Jack and Jill Children's Foundation'.
With the foundation's assistance, the couple can zone in on the often-mundane but necessary tasks that make up everyday life, in the comfort of knowing a nurse is taking care of Alexis.
"I think Alexis is one of 11 children in Kerry that 'Jack and Jill' are helping, and when they're here, 40 hours a month, Teresa and I can go to the pharmacy for Alexis, we can get equipment we need from KIDS," Steve says. "We can also cut the lawn, make the dinner, whatever we need to do around the home. Two nurses are currently splitting the hours between them, and they're a lifeline to us.
"We always wanted to give something back to them, like we did for Temple Street before. With her birthday coming up, we decided to kill two birds with one stone."
From 2pm to 5pm on Good Friday (April 19), grown-ups and kids alike will immerse themselves in a world of wonder at the Dromhall Hotel in Killarney.
For the kids, there will be face-painting; balloon-modelling; gymnastics and cheer-leading; Easter egg hunts; and yoga sessions. For the bigger kids, a feast of scones, cakes, teas, and coffees await, delicious intervals between the holistic and beauty therapies on offer. 'Alexis's Third Birthday Bash' will be a party worthy of a most special person, and a foundation that supports her family so thoroughly.
"It's an idea I came up with, and the owner of Peak Performance Gym - Bobby Enright - and Siobhan Reen from 'Jack and Jill Kerry' have been heavily involved," Steve says. "Bobby will also be running gym challenges in Peak Performance the same day.
"People sometimes buy Alexis toys, but because of her condition, they often don't get used.
"So, instead, people can donate to 'Jack and Jill' on the day. What they give, no matter how small, will help children like Alexis, wherever in the country those children may be. As little as €16 covers an hour's nursing for a child."
Further information is available on the 'Alexis 3rd Birthday Bash' Facebook event page or www.jackandjill.ie. Alternatively, contact Steve O'Mahony on Facebook or 'alexisindhouse' on Instagram; or contact 'Jack and Jill' on (045) 894538 or email@example.com.