Family on constant vigil with rare disease

RARE CONDITION: Amelia Drummond, 1, is  one of only two people with spinal muscular atrophy with respiratory distress (SMARD) in Australasia.
RARE CONDITION: Amelia Drummond, 1, is one of only two people with spinal muscular atrophy with respiratory distress (SMARD) in Australasia.

Wiggles-lover and little giggler Amelia Drummond is affectionately nicknamed "Little Bear" because of the growling sound she makes through the ventilator keeping her alive.

She was a happy, small and healthy baby, but last November, at 4 months old, she stopped breathing while in the car with her parents Ben and Annette Drummond.

"Our lives changed from then on," Annette Drummond said.

Eight months later and the 1-year-old has been diagnosed as one of only two people in Australasia with spinal muscular atrophy with respiratory distress (SMARD).

"No-one knew what they were dealing with," Drummond said.

One of the few genetic scientists dedicated to researching the rare motor neuron disease, American Greg Fox, wrote that "as genetic diseases go, SMARD is the rarest of the rare".

It involves progressive destruction of cells which control motor functions, including breathing and speaking. Cognitive function is unaffected.

Drummond met her Kiwi husband in London. They later married and moved to her hometown of Perth, Australia.

Despite a one-in-50,000 chance both parents had the gene, and a one-in-a-million chance for their children, their first child was born with the terminal disease.

"They don't even think there's 60 in the world with it," she said.

The family planned to move back to Christchurch to be nearer family in Nelson, where Ben is from.

But it took long enough to get a medical team who understood Amelia's needs in Australia - where there is just one other 9-year-old boy with SMARD in Sydney - that they are now staying put in Australia.

Miriam Rodrigues, who runs New Zealand's neuromuscular disease patient registry, said she was "fairly certain" there were no SMARD sufferers in this country.

Amelia has had six surgeries, is fed through a pump, has a tracheotomy and ventilator to breathe, will never walk, has limited arm movement, and cannot keep her head up unaided.

She has to be watched all day for any problems with her life support.

"When I do have her on a day leave I can't even go to the mailbox," Drummond said.

The couple moved closer to the hospital, gave away their family dog and Drummond had to quit her job to be at Amelia's side 12 hours a day.

They are regularly woken in the middle of the night with calls from the hospital.

"We're never quite sure when it's going to be the call."

It was up to them to decide when it became too much for their child.

"She smiles as soon as we walk into the room. We can't just turn off the machine. It's very hard."

Their goal was to have her home in another month, but they are seeking support through their Facebook page Amelia - Little Bear - SMARD Support to fund her care.

"We finally have an answer of what it is, now we just have to give her the best life we can."

The Press