When Leilamarie Sutherland was rushed to hospital at age two, nobody knew how serious her illness was, not even her mother, Kylie.
“Two years ago she [Leilamarie] went into a diabetic coma because her sugar level was at 1.2,” Kylie explained.
Kylie and her daughter were rushed out of their hometown of Baradine, in North-West NSW, and flown into Tamworth by an emergency helicopter to receive treatment.
“The doctors said she was nearly dead.”
“The doctors said she was nearly dead,” Kylie said.
“She was having seizures and going through medical tests for over the course of a month.”
Despite several check-ups, no one knew the diagnosis for Leilamarie. It wasn’t until her blood tests were sent to France, where an expert in the field of Medical Genetics gave them an answer.
“No one could figure out what was wrong with her, we stayed at various hospitals for weeks,” Kylie said
“Finally the results came back from Paris and we were told she had Laron Dwarf Syndrome… We all just thought, well what is that?”
What is LDS?
Laron Dwarf syndrome is rare; only 250 cases have been described worldwide. Five people have been diagnosed in Australia, but Leilamarie is the first Aboriginal person to ever be diagnosed.
Laron Dwarf Syndrome (LDS) is a congenital disorder characterised by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth levels which fail to rise after exogenous GH administration.
Leilamarie is currently three feet tall, which the doctors have informed the family, will be the height she will remain for the rest of her life. Apart from being short statured, Leilamarie needs regular health checks to ensure her organs don’t overgrow her tiny body frame, and has to consume food every two hours.
Kylie is a full-time single mother of two young children, both suffering from illnesses. Her brother Domonic had suffered from encephalitis, similar to meningitils, which attacks brian nerves. Since suffering this from the age of three, his learning ability has been impacted and he has problems with his hearing and sight.
Leilamarie’s treatment, an IGF1 – hormone injection is required twice a year, but each purchase sets the family back at least five thousand dollars.
That’s money the Sutherland’s don’t have, but urgently need.
“If she doesn’t get IGF1 her body won’t function properly and she won’t live normally,” Kylie said.
After The Pharmaceutical Benefits Scheme (PBS) was changed and funding seized, the Sutherland’s were expected to cover all costs, as the government no longer subsidises for this medicine. As a result, Kylie has set up a gofundme account in efforts to raise money for her daughter's treatment.
Paediatrician, Dr Donald Anderson has been treating Leilamarie from the beginning, he says finding treatment for her has been a difficult journey.
Only one company in the world deals with IGF1, that company is Ipsen and their Medical Director, Dr Marissa Lim told NITV,
"Whilst Ipsen commercialises Increlex® in some countries, it is not currently registered by the regulatory authority in Australia."
“Pharmaceutical companies are usually there to make a profit, so for rare diseases, where there’s no profit to be made, the companies scale it down, don’t do the research, or stop producing.”
Dr Lim says rare diseases pose very specific challenges in terms of access to expertise, diagnosis, treatment and care.
"Increlex® is currently not registered in Australia, and following the recent resolution of supply constraints, Ipsen is considering avenues whereby Increlex® could be made available in Australia."
Dr Donald Anderson says it’s not a "dollar figure that’s preventing the medication - but a much bigger issue."
“Pharmaceutical companies are usually there to make a profit, so for rare diseases, where there’s no profit to be made, the companies scale it down, don’t do the research or stop producing.”
“It costs a lot of money to get approval for kids. We often are dealing with the situation where there’s a product we want to give to children, but the prescriber says ‘don’t give to anyone under 18 years old' – so they can’t be sued. But on the other hand, you have this population that will benefit from the medicine."
Living with LDS
Every six months Leilamarie has to have regular check-ups at Newcastle hospital to ensure her organs don’t overgrow her tiny body frame. Her mother says LDS is a very demanding disease and is draining not only for her daughter but for her too.
“Every two hours she has to have something to eat. At night she has to have cornflour mixed with milk to release the sugar flow – if she doesn’t have something by the 4am mark she won’t make it until 9am.”
“Leila’s aware that she’s different to other people. She’s starting to ask why she isn’t growing and why people her age are bigger than her.”
Leilamarie’s grandmother, Lou Sutherland, looks after her at least twice a week and says it’s a rewarding but challenging job.
“Because of her condition, when her sugar drops she goes into states of hypo. It will be a freezing cold day and she will just strip down to her nappy from having an extremely high body temperature."
Another issue beginning to arise is that Leilamarie is becoming more aware of her condition and also aware she isn't like other children her age. Lou only hopes that the community supports the young girl.
“Leila’s aware that she’s different to other people. She’s starting to ask why she isn’t growing and why people her age are bigger than her,” she explained.
“We just treat her equally, like the rest of her family. Mainly she’s just loved by everyone in the community and we really hope that continues throughout school and her future.”
Leilamarie and her family have been told that she will never grow to be more than four feet tall.
Professor Andreas Zankl, a leading expert of Genetic Medicine at Children's Hospital, Westmead, says although Laron Dwarf Syndrome is extremely rare, it is not life-threatening.
“Apart from being short, the person should be happy and healthy.”