Pictures: Selina Nunn
Alanna Peck was filled with emotion as she flew into Christchurch Airport and saw it bathed in orange light in honour of International Rare Disease Day.
Two of the Canterbury mum’s four children have complex rare conditions and she had organised the national “Glow Up and Show Up” event on behalf of Rare Disorders New Zealand to raise awareness of the 300,000+ Kiwis who live with uncommon conditions.
“The airport buildings looked stunning and there was even a beautiful orange sunset lighting up the sky as I flew into Christchurch,” Alanna grins. “I was travelling by myself, so I just had to tell someone at the airport what it was all for.”
The landmark was one of 48 buildings and monuments around the country that lit up on the evening of Thursday 29 February, when Rare Disorders Month kicked off.
Alanna knows first-hand about the struggles facing families supporting kids with complex medical needs. It took three years for doctors to diagnose her son Lachlan, now nine, with a rare condition called DiGeorge or 22q11.2 deletion syndrome (also known as 22q), where a small part of chromosome 22 is missing.
“When he was born, we knew things weren’t quite right but were assured for a long time by many doctors that he was fine,” tells Alanna. “He has quite distinct facial features, used to choke all the time and as he got older, didn’t talk or respond to noise.
“When he was around two, my husband was building a fence, and we noticed that Lachlan was getting closer and closer to the nail gun but didn’t even blink.”
Alanna and her husband Russell Peck, both 38, got Lachlan’s ears tested and discovered he was profoundly deaf. The good news was that the loss was due to bone conduction, so hearing aids fully restored his hearing.
Lachlan had several other health challenges, including a sub-mucous cleft palate, as well as regular bouts of pneumonia and chest infections.
“It was when Lachlan was getting his tonsils out at Christchurch Hospital that the ear, nose and throat surgeon started asking questions about his health challenges. He said, ‘I believe Lachlan has 22q.’ After a range of tests, he was proved right.”
Alanna says it was bitter-sweet to have a diagnosis. She explains, “The syndrome has around 180 symptoms and each individual has their own variant, which can affect the heart, kidneys and immune system. Lachlan has problems with his legs and, just before COVID, finally had his cleft palate operation. He learnt how to talk during lockdown, which was brilliant.”
Despite numerous tests, operations, plus ongoing hospital visits and speech therapy, Lachlan doesn’t let the challenges hold him back. He’s popular at school, goes to Scouts and StarJam, plays sport and “gives everything a go”, his proud mum says.
The whānau was dealt another blow in 2021, when daughter Chloe, then aged 11, had a bad fall at school, hit her head and developed central neural centralisation syndrome, as well as a functional neurological disorder, which causes severe pain and seizures that affect her ability to walk and talk.
“It’s been such a distressing journey for Chloe,” tells her mum. “We’ve spent months in hospital away from the rest of the family and Chloe has spent long periods bedridden. While some of the medical professionals we’ve dealt with have been great, others have said it’s all in her head, even when she lost the use of her legs and couldn’t feel anything from the waist down.”
When the family couldn’t find the help they needed in New Zealand, they fundraised and topped up their mortgage to take Chloe to the Advanced Rehab Centre in Sydney, where she made great progress, learning to walk again. Unfortunately, last year, Chloe, now 14, caught COVID for the second time. Her pain worsened, and she developed tics and non-epileptic seizures. She’s now back in her wheelchair full-time, with no feeling from her chest down.
Despite the challenges, Chloe, a talented artist, is back at school at Ashburton College three days a week with the assistance of a “wonderful” teacher aide who helps her when the seizures strike, reveals Alanna.
“Chloe is so amazing. She has to work extra-hard to manage her pain, try to be social and deal with the psychological impact of what she’s going through.”
Like other families in similar circumstances, the Pecks have faced a lack of understanding and expertise, the feeling their issues are in the too-hard basket and battles with ACC over Chloe’s care. Their journey has also been difficult for their other children, Charlotte 16, and Oliver, seven.
After volunteering for Rare Disorders NZ for some time, Alanna is now the organisation’s South Island coordinator.
“Rare Disorders NZ is calling for a Rare Support Centre to support clinicians and families to manage rare conditions. This would have made a huge difference to families like ours, so we’re not having to navigate the health system alone.”
To support the rare disorder community, visit Givealittle page #GlowUpShowUp.
