Thinking big no obstacle for tiny Sarah

Sarah Morrell is in the US for a trial of a new treatment for her condition. Photo / Supplied

Teen with rare genetic disorder tries experimental treatment in United States.

Sarah Morrell, who suffers from a rare disorder, is 17 years old, 1m tall and wants to be a travel agent when she is an adult.

The brave and positive youngster's thirst for travel, despite her disabilities, has been fuelled by many trips to the United States connected with her condition.

Sarah, of Wanganui, has Morquio 4 syndrome, a genetic disorder which means her body does not produce a particular enzyme needed for removing toxins. It has left her short, and suffering joint pain and breathing difficulties - but it hasn't affected her brain, nor her enthusiasm to make the most of life.

There is no cure. However, an enzyme replacement therapy has been developed to alleviate the symptoms and has given some improvement to those treated in a trial of patients who could walk. Sarah had several operations at Auckland's Starship hospital when she was younger to help reinforce her joints, including one that fused her head to her spine, but she lost the ability to walk. She has had to use a wheelchair since she was 10.

"We thought we had missed out on the trial," said Sarah's mother Lynda. "Then they decided to do an additional trial, in the non-ambulatory and would she be interested in going on it. We all decided yes, we're going to do this."

The trial is run in the San Francisco Bay area of California, where Sarah has gone for an annual check-up as part of a decade-long project to research the history of her disorder.

She had her first intravenous infusion of the enzyme replacement therapy this week. It's too soon to expect any improvement in her symptoms.

"I'm excited and nervous about the enzyme replacement," Sarah said. "I'm hoping that soon I will start feeling like I have more energy to help me live my life how I want.

"I've been here for nearly a month already because it's taken that long to get through the screening process. I've had so much surgery in the past the doctors at Oakland Children's Hospital needed to check with Starship to make sure it was safe for me to be part of the programme.

"This is a once-in-a-lifetime opportunity and I feel really proud to be part of it."

Mrs Morrell said the company behind the trial met many of the family's costs for Sarah's stay in California, but they had still taken a financial hit.

Husband Ben left his job as manager at a road contracting firm to stay with his daughter in the US for the year of the trial, and the couple have extended their mortgage by 20 years, when it had only a year to run.

Mrs Morrell, a nurse, sends $200 a week to her husband, but they are appealing for public support, "to allow us to survive in both places".

•Donations can be made on the internet at givealittle.co.nz/cause/SarahinSanFran

Q&A

What is Morquio 4 syndrome?

A genetic disorder affecting one in a million people. The sufferer's body can't produce a crucial enzyme that helps remove a type of sugar molecule, so sugar accumulates and becomes toxic.

What does it do?

Effects include growth restriction, weak and painful joints, breathing problems, premature death.

Is there a cure?

No but doctors are trying an experimental therapy involving weekly intravenous infusions of a synthetic form of the enzyme. So far there has been some evidence of benefit to patients.