'Lucy's Lifeline' appeal aims at improving home for tragic tot

Life was turned on its head for Mullingar couple Carla and Kris Thompson when, within a year of her birth, their now-four-year old daughter Lucy was diagnosed with a rare genetic disease called Zellweger Syndrome – a progressive and life-limiting condition for which there is no cure,

“Both Kris and I are carriers of the gene,” says Carla, and that meant there was a 25 per cent chance of Lucy developing the condition.

Lucy is fully reliant on her parents to fulfil her daily needs. In the last year, her condition has deteriorated significantly: she is wheelchair-dependent due to the progressive degeneration of the muscles in her upper and lower limbs. She has only involuntary movement now.

In June 2022, Lucy was fitted with a PEG feeding tube. Her medical team in Temple Street are monitoring and adjusting her medication doses on an ongoing basis in an effort to keep her pain under control.

The family live in a three-bed house at Glenview Heights, and the one shared family bathroom is upstairs, meaning Lucy is carried by her parents up and down and from one room to another numerous times a day.

As a result, an appeal has been launched via iDonate to raise €100,000 so the Thompson home can be adapted to meet Lucy’s needs. Lucy needs a downstairs bedroom with space for her electric bed and pressure-relieving mattress and a ceiling hoist.

Also needed is a wetroom to allow Lucy’s parents to comfortably wash her and attend to her hygiene needs. An accessible kitchen, living space is required so she can join her family at mealtimes.

In addition, with a condition like Lucy’s comes a huge amount of medical supplies and equipment so storage space is needed to house equipment, including her peg feeding materials, wheelchair, p-pod along and the many splints and aids used for physio.

Life in the Thompson home focuses mainly on meeting Lucy’s needs of, says Carla, who is her daughter’s full-time carer – but she stresses she and builder husband Kris receive great support from their friends and families, especially their respective parents, Marian and PJ McManus and Billy and Angela Thompson.

“It was a normal pregnancy,” says Carla, recalling that after Lucy’s birth, there were some indicators that there might have been an issue: a touch of jaundice; a view that her neck was “a bit floppy”.

Lucy also failed the newborn hearing test, and at nine weeks, doctors determined that she had a mild but permanent hearing impairment; she was also referred for physiotherapy to strengthen her neck muscles, but these was no major alarm at that time.

Generally, however, Lucy failed to meet her milestones: “She didn’t sit up until she was nine months old. And she never really rolled around or anything like that,” says Carla.

“I brought it up at her developmental check when she was about 10 months and we were back at the paediatrician the following week and we were sent straight for genetic testing. A month later, we got the results.”

With Zellweger Syndrome, every child’s path is different: doctors can’t give a definite timeline on the progression, and so the advice to Carla and Kris was that they take their daughter home and enjoy her presence.

Sadly, few children diagnosed with Zellweger Syndrome live beyond their first birthdays, but Lucy at that stage was 11 months old and strong and happy.

The news was a blow to the couple: “It took me a while to kind of get my head around it,” says Carla. “I’d sit here and cry and I hated going out and meeting other people or whatever.

"But then when I’d see her sitting here laughing and playing with her toys and everything, I was like: ‘alright, that’s it. That’s enough. Stop crying and just get up and enjoy her life and make her life worth living’.”

Earlier this month, Lucy celebrated her fourth birthday, and there to join in was baby sister Romy, born 12 weeks ago. Like her parents, Romy was found to be a carrier, but she does not have the condition.

In May 2021, Lucy broke a leg, and the three weeks of immobility that resulted marked the start of a decline in her condition. She stopped moving herself; and over time her swallow disimproved so she lost weight and she developed spasms. It took months of adjustment to get her on the correct medication.

Even during the pregnancy with Romy, Carla had to carry Lucy up and downstairs every time she needed the bathroom during the day, demonstrating how greatly the house adaptation is required.

See idonate.ie for more.