Two Invercargill children with a rare genetic condition are heading to Auckland for a potentially life-changing transplant - but the family needs help.
Siblings Sam, 5, and Charlotte Gillan, 7, have Hurler-Scheie syndrome (MPS I-H/S), a genetic condition that affects many parts of the body.
They need to go to Auckland for up to 10 months for a bone marrow transplant.
Without the transplant, their prognosis is not good; without a successful transplant, they may not live much beyond their teenage years.
However, the costs of the family travelling to Auckland are high.
Parents Tracy Allen and Jason Gillan have created a Givealittle donation page to help raise funds for day-to-day living expenses while they are in Auckland.
The siblings were diagnosed in June after their parents became concerned their children could not lift their arms above their head.
They could not dress themselves and needed help on the toilet, Ms Allen said.
However, despite their health concerns the youngsters are like any other siblings - they fight, have hobbies, and go to school.
Sam loves rugby league and was over the moon when he met the Warriors last time the family was in Auckland.
He also loves rugby and the All Blacks. Charlotte is shy but loves fairytales and Barbie.
She also loves ballet but is unable to attend classes because of her physical restrictions, Ms Allen said.
As well as Hurler-Scheie syndrome, Charlotte has scoliosis of her spine and would need surgery for that in a couple of years.
She also has an enlarged tongue, a very narrow airway, a damaged spinal cord, an enlarged liver, walks on tip toes and needs a hearing aid.
Sam has a narrow airway, enlarged liver, thickening of his heart valves, an enlarged head and a slight curve in his spine.
He is also likely to need a cornea transplant.
The family was very close but she and her partner had not been able to bring themselves to tell their children fully what was happening, Ms Allen said.
"They think they're going up to see why they can't lift their arms up."
Before the transplant they would need enzyme replacement therapy and chemotherapy.
The bone marrow transplant would be risky but without it they would have years of suffering, Ms Allen said.
If it worked both children would be able to live relatively normal lives.
Mr Gillan's employer, South Port, and the Maritime Union of New Zealand had been very supportive with both setting up funds for the children, while her own colleagues at First National had also been supportive, she said.
South Port chief executive Mark O'Connor had formed a fundraising committee so workers could help.
Hurler-Scheie Syndrome is a mucopolysaccharidosis type I condition caused by an enzyme deficiency.
University of Otago professor of paediatric genetics Stephen Robertson said people with the disease were unable to break down certain chemicals in their cells.
It was the buildup of these chemicals which caused the symptoms Sam and Charlotte have.
A bone marrow transplant would put cells that possessed the needed enzyme back into the body, he said. The cells would move around the body and would prevent the progression of the disease, Mr Robertson said.
The disease was very rare and he estimated that only a handful per 100,000 people would have it.
The Lysomal Diseases New Zealand website says one in 500,000 people are born with the disease.
Donations for Sam and Charlotte could be made by visiting www.givealittle.co.nz/cause/Helpcharlotteandsam.
The family has also created a website with more information.
For more information on Hurler-Scheie syndrome and other lysosomal diseases visit www.ldnz.org.nz
NOTE: This story has been changed. When first reported on October 11, it contained information from the fundraising website that said the family were raising funds for treatment and living expenses, travel costs, and entertainment for the children. However, they have now advised the funds raised will be used tefor day-to-day living expenses while they are in Auckland. Information on the website has been changed.
- © Fairfax NZ News
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