Brave girl leaves 'easier road' for little brother
A "courageous and determined" 9-year-old Christchurch girl has lost a battle with a rare genetic disorder - and her brother has the same disease.
Ruby Hollingworth, who was one of only a handful of sufferers of Sanfilippo syndrome in New Zealand, died last Sunday as she and parents Helen and Dean "camped" in the living room of their Mt Pleasant home.
Experts say sufferers of the syndrome, also known as MPS III, lack an enzyme that breaks down complex sugar molecules. As a result, they are stored in the tissues of the body and vital organs like the heart and brain, eventually causing cognitive and physical decline.
The couple were told the average life expectancy was 13, so when Ruby was diagnosed with the condition when she was 6 they realised their time with her was limited.
But they were dealt a double blow as son Laird, now 6, was diagnosed with the condition at the same time.
Dean Hollingworth said the hardest thing was comprehending that they would not get the chance to celebrate their children's 21st birthdays and weddings or teach them things such as learning to drive.
Helen Hollingworth said she cried for the first few weeks and then realised she had to make the most of every day she had with her children.
"I thought, ‘I'm not going to spend the rest of my kids' lives and my life crying when I could be happy with the time I have with them'."
She said they were aware that something was not right when Ruby was about 2, but it took specialists years to diagnose the condition.
"We knew at about 4 that things were going really wrong, even though we had no name for it [the disease]," she said.
"She woke up one morning and couldn't feed herself. Then she woke up another and couldn't talk.
"It was frustrating for her, but she still found other ways to adapt quite quickly."
When Ruby could no longer walk, she crawled, and although she could not talk she communicated "through her eyes".
"There was no complaining; she just got on with it. She was very courageous and very determined."
In hindsight, even as a toddler there were signs, Hollingworth said.
"She was always a little stumbly on her feet and her speech was a bit slow to come at first, but she had a couple of ear infections, so we thought it was just that."
Once they knew of the disease, the couple began searching for a cure.
While research is being carried out, no treatment has been found.
"We spent a lot of time doing research, emailing people overseas," Hollingworth said.
"Once we realised there was wasn't [a treatment] everything became a bit easier. We'd done everything we could."
In spite of her condition, Ruby lived life like a normal child, she said.
Ruby attended Christchurch East School, enjoyed riding her bike, and loved animals and swimming; so much that shortly after the diagnosis the couple applied to Make A Wish for a spa pool, which was granted.
Ruby's condition started deteriorating in April and she was in and out of hospital.
She was last admitted on the Sunday before her death but was discharged on the Tuesday to spend her last days at home.
Hollingworth said her daughter seemed determined to "hang on".
"She nearly passed away in hospital that same night. We're grateful we got those few extra days with her," she said.
Dean Hollingworth said that when Ruby was home there were several times when they thought "this is it".
"Emotionally, it was tough," he said.
Then last Sunday, just as the couple finished their dinner, they noticed Ruby's breathing change.
"We just sat beside her. It was very quick. It was a relief after what she had been through that week," Helen Hollingworth said.
Ruby's funeral was held yesterday.
Helen said they would never forget Ruby's sparkling eyes and mischievous grin.
"She was really cheeky, always giggling and laughing. She lit up a room with her smile, and I'm not being biased because I'm her mum. She was a happy wee girl full of life," she said.
Dean said a moment that encompassed Ruby's personality was when he asked her on her 7th birthday if she wanted to go for a ride on his motorbike.
"She hadn't talked in about three months and she screamed ‘Yea'. I sat her on the front of the tank and tied her on. Mum was cringing, but she [Ruby] had a huge grin on her face," he said.
Another time was when Ruby was 3 and she took interest in a bikie kitted out in leather gear. After he walked past she chased him and placed her apple core in the helmet he was carrying, unbeknown to him.
The couple said Ruby was Laird's best friend.
"He said her name yesterday when he came in from school, so he's obviously missing her. I don't know how much he understands," Helen said.
The condition was affecting Laird "slightly differently".
Helen said that compared with Ruby at that age he still had a number of skills that she had lost.
"He's still walking at the moment and still has his speech. He's going down a slightly different path," she said.
"At least we know the signs now. We're prepared.
"He's got an easier road because of his sister."
But it was hard to compare the two as they had different personalities, she said.
"He has never actually achieved the things that she did. He never did puzzles or read a book, but socially he's more comfortable with people."
The couple do not dwell on how much time they may have left with Laird.
"One day at a time; that's our motto," Dean said.
Otago University associate professor Mike Sullivan said the difficult aspect of the disease was that parents "never expect it".
"It's rare because you need two parents who are carriers. One in 3000 people are carriers. The chances of them getting together are low," he said.
The odds were like that of winning Lotto "in reverse", Sullivan said.
New Zealand Organisation for Rare Disorders executive director John Forman said there were some cases in New Zealand where sufferers lived into their early 20s or 30s, but this may have been a different strain, he said.
"Generally, their survival rate isn't very good at all. That's the very, very tough reality for these parents."
- © Fairfax NZ News