Hawke's Bay baby battling rare skin disease only reported 100 times worldwide

Harper Elers has NOMID, a condition where treatment costs $30,000. Photo / Givealittle

For nearly her entire first year, Harper Elers was a medical mystery.

Now, finally, her family has an answer. She's one of about 100 people in the world with an ultra-rare condition called neonatal onset multisystem inflammatory disease, or Nomid.

Harper's skin was bright red when she was born and remained that way for about a week. In the year since, she's suffered numerous severe body rashes and fevers.

Her mother Toyah Bavidge took her for multiple visits to the doctor, the hospital and even sought other opinions to figure out what was wrong with her daughter.

Harper was constantly covered head-to-toe in a horrible rash which caused discomfort and pain, Bavidge told the Herald.

Nearly a year had gone by before Harper was referred to hospital by a new doctor, where she started undergoing blood tests, scans, x-rays and an MRI.

Harper Elers has NOMID, a condition where treatment costs $30,000. Photo / Supplied

She was taken to Starship Hospital for two more weeks of intense testing and saw a number of doctors and specialists before she was diagnosed with Nomid.

According to the United States' National Institute of Health only about 100 cases had been reported worldwide.

Bavidge believes Harper is only the second-known person in New Zealand to have been diagnosed with Nomid.

The New Zealand Organisation for Rare Diseases said Harper's family were the only people who had asked for support with Nomid and without a national register for rare diseases it was impossible to tell how many others had it.

There was no known cure for Nomid but patients could use a daily injection called Anakinra to fight inflammation.

Bavidge said her prognosis was widely unknown and only time would tell.

"There is a study that estimates about 20 per cent of children with Nomid make it to adulthood but as there are such limited cases that may not be that accurate."

Doctors couldn't say whether Harper would even be able to walk or talk but she has been referred for various different therapy treatment for support.

The drug costs $30,000 per year.

"I don't know how to describe it, everything has been turned upside down," Bavidge told the Herald.

"Everything has just changed, it's not normal life anymore. We're between home and hospital and a lot of travelling back and forth."

Bavidge lived with her partner and three daughters - Isabella, 8, Laylah, 2, and Harper - in Waipukurau.

Since Harper's diagnoses of Nomid, the family has had to travel between their home, Hastings Hospital and Starship Hospital in Auckland making it hard for Bavidge or her partner to work full time.

The family was also struggling to get to their hospital appointments because of mechanical issues with their car.

Along with the horrible rash and fevers, Harper often has a lack of appetite and has arthritis in her joints, making movement very painful.

Harper Elers has NOMID, a condition where treatment costs $30,000. Photo / Supplied

Despite turning one last month, she was still unable to sit unsupported and has never crawled or rolled over.

"It's going to be a very long road of trying to get her limbs to work," Bavidge said.

"A physio team are going to make her a special seat so she can sit unsupported and then eventually put some weight on her legs, she doesn't weight-bear."

Next week Bavidge and her partner Zed Elers would be taught how to give Harper her daily injection so they could give it to her at home.

The anakinra drug made Harper much happier and she was able to stretch her legs out and reach above her head, something she couldn't do otherwise.

"Because it is an immunosuppressant, they want to give her the 15 months live immunisation early to boost her immune up," Bavidge said.

"She's been off it for two weeks, she's had her live immunisations and so next Monday we go back to Hastings Hospital and they're going to start Anakinra full-time.

"After she's been on it for two weeks we need to go back to Starship Hospital, we've been told our lives are going to be between Starship, Hastings and home."

The Government is picking up Harper's $30,000 cost for anakinra injections for 26 weeks but, after that time, the family will have to reapply.

Meanwhile, a Givealittle has been set up by Harper's aunty to help raise funds for her treatments and to help the family purchase a reliable car so they could get Harper to hospital appointments.

This morning, the page had raised $1020 from 19 donors.

What is neonatal onset multisystem inflammatory disease?

• Autoinflammatory diseases are caused by genetic mutations in molecules that are involved in regulating the innate immune response.
• A mutation of the NLRP3 gene causes an overproduction of interleukin instead of producing it only in response to infections.
• Patients have inflammation present through most of their body and can sustain some permanent damage but the prognosis is greatly improved if diagnosis and treatment is started early in life.
• Rashes, fevers, joint pain, headaches, conjunctivitis, nausea, vision changes and light sensitivity are linked to the disease.
• The majority children with NOMID/CINCA have significant cognitive and mental deficits, and/or learning disabilities.
• The use of various Interleukin-1ß blocking, trapping or otherwise attacking drugs to prevent the cellular uptake of Interleukin-1ß in patients has been found to be most effective.
• In the US, anakinra is the only medication that is FDA-approved for NOMID patients.
Source: New Zealand Organisation for Rare Diseases