Rare disorder diagnosis not easy

• Patients living with rare diseases visit an average 7.3 physicians before receiving an accurate diagnosis;

• 40% of GPs and 24% of specialists lack sufficient time to do a workup for a rare disease even when they suspect the patient may have one;

• It takes on average 4.8 years from symptom onset to accurate diagnosis for a patient aged 0-20;

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• 44% of patients agreed that because of a slow diagnosis, treatment was delayed and the impact on their condition was negative.
Source: The Journal of Rare Disorders, 2014

There needs to be greater recognition of rare disorders by those who have the power to help, says New Zealand Organisation for Rare Disorders chief executive Dr Collette Bromhead.

She is speaking out on Rare Disease Day in an effort to raise awareness of the 377,000 New Zealanders affected by a rare disorder.

"The number of New Zealanders who have a rare disease is higher than those with diabetes," Bromhead said.

"There are between 5000 to 7000 different rare conditions known, and while individually these disorders are uncommon, collectively they affect 8 per cent of our population. This is the paradox of rarity.

She said there needed to be "greater recognition of rare diseases as one of the significant health challenges of our time", from both the Government and the health sector.

"Essentially rare disorders are ignored in the training of doctors. And very often doctors will only encounter a handful of each of these diseases in their careers.

"But they need to be cognisant that they exist so that when they are presented with one they don't brush it off as being something common or in someone's head."

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Today the Herald features four stories of families who lives have been turned upside down by rare disease.

To help raise money for NZORD visit rarediseaseday.org.nz/share-for-rare.

Taylor Fincham

Taylor Fincham, (right) 16, with her older sister Jordan. Photo / Supplied
Taylor Fincham, (right) 16, with her older sister Jordan. Photo / Supplied

Fireworks were going off on the Auckland Harbour Bridge when the Fincham family were told their daughter might die.

Taylor Fincham, 16, is one a handful of Kiwi children born every year who have Spinal Muscular Atrophy (SMA).

The genetic degenerative motor neuron disorder affects brainstem and spinal motor neurons - robbing the body of movement. It affects between 1 in 8000 to 1 to 11,000 live births.

The teen was diagnosed with SMA when she was just 18 months old after her parents noticed differences in the way she moved compared to her two older siblings at the same age.

Taylor has SMA type 3 but doctors have remarked her respiratory weakness is more symptomatic of type 2 - a more severe version.

Her mother Heidi Fincham told the Herald Taylor has been wheelchair bound since she was 5 and has endured two bad bouts of pneumonia in childhood.

On New Year's Eve 2009, Taylor's vital statistics fell so dramatically she was airlifted to Starship Children's Hospital in Auckland for the first time.

"I didn't understand the severity of it and when we arrived at Starship I was looking at the door and I was thinking PICU? What's PICU," Fincham said.

"Whereabouts are we? And then I realised it the paediatric ICU.

"They worked on her all through that New Year's Eve."

Taylor is now hospitalised three or four times a year because of the weakness in her lungs, Fincham said.

Taylor is "incredibly intelligent" and "a breath of fresh air", she said.

"And she is a fantastic artist, absolutely fantastic even though it takes her forever to do it.

"When people make a faux pas she will just make a joke out of it."

The treatment is nusinersen (Spinraza), a costly drug made by Biogen.

Pharmac's Rare Disorders Subcommittee considered a funding application for Spinraza at their meeting in November last year but deferred the decision.

Fincham said the deferral was "soul-destroying" news for the Pahiatua family who had pinned their hopes on the "miracle drug".

Fincham struggled to fathom how the committee could put a cost on the value of a life.

Nobody would do that to a loved one, she said. "I am beyond angry, I am devastated and disgusted."

Fincham has nearly lost her daughter more than once, a feeling she said was simply "incomparable", but she had good prospects ahead with treatment.

"It's a basic human right to have access to treatment."

Fincham knew they were running out of time to recieve funded access to Spinraza, with Taylor set to turn 17 in July, and wondered if they should have moved to Australia years ago. Australia decided to find the drug for paediatric patients last year.

None of the people with SMA did anything to ask for this, it was just the "cards they were dealt".

"Do some of them have to die? And will some of them die while they are waiting on the care?"

Advocate Fiona Tolich, who also has SMA, said she was on the phone for two days solid with families who were in tears after news of the deferral in the funding application process.

"This [drug] is the only option. We have got to fight for it," she said.

These families did not have the luxury of time because every day was another day a child could deteriorate, she said.

"Once the motor neurone is dead you can't reignite it," she said.

The key was ensuring treatment happened before the body was robbed of the ability to move those muscles, she said.

"This is actually a miracle drug."

Spinraza was approved by the FDA in the USA in late December 2016.

Pharmac's chief executive Sarah Fitt said there was only so much money to go around so only "proven treatments" could be funded.

The decision on whether to fund the drug would be revisted upon completition of two clinical trials under way.

Evie Olsen

Evie Olsen, 4, with her parents Polly and Bruce. The Tauranga girl suffers from a rare genetic condition that has left her unable to walk, talk or eat for herself. Photo / Alan Gibson
Evie Olsen, 4, with her parents Polly and Bruce. The Tauranga girl suffers from a rare genetic condition that has left her unable to walk, talk or eat for herself. Photo / Alan Gibson

Four-year-old Evie Olsen's genetic condition is so rare only 12 people in the world were thought to have it when she was diagnosed last year.

The Tauranga girl was born with infantile hypotonia psychomotor retardation facies (type 1), or IHPRF for short, and is believed to be the only person in New Zealand with the condition.

It means the little girl can't eat and is fed through a tube in her stomach, she has low muscle tone and can't walk, crawl or bear weight, she doesn't talk, requires oxygen at night, has seizures, global development delay, sleep difficulties and constipation.

Mum Polly and partner Bruce Olsen noticed immediately after Evie's emergency Caesarean birth that her limbs made jerky movements.

She wouldn't feed, her breathing was poor, the seizures started and all the while Evie did not reach any milestones. Though Evie was their first child the couple knew something was terribly wrong.

"I wanted to go to mums and baby groups but it was too hard to see the other children and babies doing what Evie should have been doing," Polly said.

During the next two years they were in and out of hospitals across the upper North Island but every time tests came back normal.

Finally, after pushing for DNA sequencing tests, the results came back after a year to show both Brown and Olsen were carriers of a gene that caused Evie's condition.

By then her seizures had been brought under control by medication and now she can roll and sit up by herself for 30 minutes.

She has physiotherapy and occupational therapy and is learning to weight bear but progress has been minimal.

Polly, 29, said her daughter can only communicate through crying and laughing, but says she is a very happy and content little girl who loves being around people.

"She's got a really cheeky personality in her own way."

Evie attends preschool three days a week and has a teacher aide for support.

Polly, a social worker, wanted to raise awareness of Evie's condition and all rare disorders to increase support and attract more research and funding.

They currently talk to two other families online in Australia and America whose children have the condition.

There's no thought that the condition will shorten Evie's life expectancy, but Polly said sometimes it can be hard to remain positive.

"I still hope she's going to walk one day but I'm a realist about it."

Preston Williams

Preston, 6, has Fragile X syndrome, a rare genetic condition he inherited from his unwitting mum Meagan Williams. Photo / Lydia Wood/Nimmo Photography
Preston, 6, has Fragile X syndrome, a rare genetic condition he inherited from his unwitting mum Meagan Williams. Photo / Lydia Wood/Nimmo Photography

Meagan and Adam Williams had never heard of Fragile X syndrome when their 4-year-old son Preston was diagnosed with it almost two years ago.

But the Greymouth couple, who have an older son called Hunter, knew by comparison their youngest boy was not meeting any of his milestones.

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.

"He didn't sit up by himself until he was 10 months old. He didn't walk until he was 2. His speech was very delayed," Meagan, 38, said.

"We'd been told 'He's a boy, he'll develop."

At Preston's B4 School check the preschooler couldn't complete the hearing or vision tests because he didn't understand them.

He would have been passed except for Meagan's pushing, so Preston was referred to a paediatrician where he'd already been after birth with a heart murmur.

Genetic testing found the condition - it was passed to Preston by Meagan who didn't know she was a carrier.

Now at age 6, Preston - "a loving wee boy" - is in a mainstream class at Karoro School where Meagan says his learning has "taken off".

And even though he can walk and talk now, and plays Rippa Rugby, Preston's mental age is about that of a 3 or 4-year-old.

"He needs a lot of help with toileting, getting dressed, all those sorts of things that you would expect a 6-year-old to be able to do by themselves.

"He has delays with fine motor skills, gross motor skills. There's a lot of sensory issues, especially around food, and loud noises."

Meagan said the family wanted to help raise awareness for the Fragile X community.

"We also want people to know that they aren't alone.

"Follow your gut, ask the questions, seek out help and never stop fighting. There is so much support out there, it's just a matter of finding it."

Sarah Chalecki

Sarah Chalecki has a rare disorder that leaves her with severe head and body aches and fatigue, but she wasn't believed by senior staff at a Hawke's Bay school she attended. Photo / Supplied
Sarah Chalecki has a rare disorder that leaves her with severe head and body aches and fatigue, but she wasn't believed by senior staff at a Hawke's Bay school she attended. Photo / Supplied

As a young girl Sarah Chalecki was accident-prone but her parents thought nothing of it.

At age 15, the then Waikato Diocesan School for Girls student began to experience symptoms of a brain tumour such as daily headaches, blurry and double vision and floating dots in front of her eyes.

It took time but she was eventually diagnosed with idiopathic intracranial hypertension, a rare condition usually only found in middle-aged, obese women.

The condition causes a massive build-up of pressure in her head but the symptoms include headaches, pain throughout her whole body, fatigue, nausea, and sensitivity to light.

Sarah, now 25 and studying part-time toward a degree in occupational therapy at AUT, has two shunts in her head to help relieve the pressure.

She is speaking out because even after her diagnosis she was disbelieved.

"I want people to know that young people get sick too, and being a young person makes it harder because people automatically assume that only old people get sick, and people question the validity of what you're saying, even more so when you look well.

"I've had to learn to advocate for myself and it's not easy, but I also just want people with my condition, and other young people who are struggling with a chronic illness, to know they're not alone.

"In my experience feeling heard, supported and validated are the most powerful things and helps so much with surviving."

- Additional reporting Chelsea Boyle