The parents of a 6-year-old girl who is battling a devastating disorder that has left her unable to walk are desperate to secure a Dh8 million ($2.1m) drug to save her life.
Rahul Pathak, 37 and wife Astha Muthoo, 35, refuse to give up hope of delivering a brighter future for daughter Arya Pathak, who was diagnosed with spinal muscular atrophy (SMA) at the age of 1.
The rare genetic disease, which affects about one in 10,000 children, causes a rapid loss of motor neurons, leading to problems with breathing, swallowing and overall movement.
The disease has deprived Arya of a childhood so many take for granted, and forced her to spend weeks at a time in intensive care. Even a common cold can take a heavy toll on her weakened body.
The most effective treatment, Zolgensma, is also the world’s most expensive drug, costing Dh8m for the one-time infusion.
“We are both semi-carriers, but we did not see it [the disease] before, not in our childhood or family history,” said Mr Pathak, a software engineer who lives with Astha and Arya in Abu Dhabi.
Doctors in India diagnosed the disease when the family were back home for a wedding, and it was later confirmed at Mafraq Hospital in Abu Dhabi in January, 2016.
The following years have been extremely challenging for the family, who are looking for ways to obtain the medicine.
Arya continues to receive regular care at both Sheikh Shakhbout Medical City and Sheikh Khalifa Medical City.
Raising money without agreement with a registered government charity is against the law in UAE.
But donors can pay money directly to hospitals to help with medical bills – which many people generously do.
Frequent hospital stays as disease takes toll
“If she catches any viral infection, like a common cold, it could lead to breathing problems and an abnormal heart rate that would immediately land her in the intensive care unit,” Mr Pathak said.
Her deteriorating muscles, constantly under siege from the disease, make it difficult for her to swallow and have led to a number of serious health issues.
“She has been fighting lung collapse, heart attacks and suffers from 40 degrees of kyphosis, an increased front-to-back curve of the upper spine,” said her mother.
To help stave off the effects of SMA, Arya undergoes a rigorous regimen of deep stretching and breathing exercises led by her mother for 45 minutes every morning, in addition to three physiotherapy sessions a week at a specialised clinic.
“Her muscles are tight, and the muscles here [under the knee] have died, so we have to stretch it so it doesn’t become worse," said Ms Muthoo, a former engineering assistant professor.
Arya requires the use of a standing frame, braces for her back and legs, and a wheelchair, vital equipment which her parents spend thousands of dirhams on each year.
Arya still dreams of a better tomorrow
Despite the health problems she faces each day, Arya continues to attend school remotely.
She said her favourite subjects are science and English, because she loves to read and write.
“I draw pictures and then write stories to go with them,” she said.
One painting, divided into two images, shows her determination to triumph over adversity.
“This is wheelchair Arya, and it is a dark night,” she said while pointing to the left side of the drawing.
“And this is Arya who can walk and play, so it is a new morning for her.”
She dreams of a future in which she can “walk and play with the other kids”, and aspires to become a scientist.
Arya often asks her mother what will happen if she does not receive Zolgensma.
The drug uses a harmless, genetically engineered virus to provide the body a new copy of a gene meant to produce a vital protein that is missing because of the condition.
It is extremely effective, but hugely expensive because its market is very small and it required a lot of research to develop.
“She asks me if she would die like the other children; most children with her condition do not make it to adulthood,” Ms Muthoo said.
The drug was typically limited to those aged under two but drug maker Novartis launched a study earlier this year to assess its used base on weight as well as age, with children up to 21kg eligible.
“When we started to take her to doctors they advised to consider having another child because there was little hope.
“It was heartbreaking to hear them say that. She was only 1 and she was in my lap. I did not want to think of having another child. All I wanted to so was save her.”
Ms Muthoo said she often sees Arya in her dreams walking around the house, “and I think that it is the reality, and what we are living is a bad dream”.
The couple are doing all they can to change the “brutal reality” they face and get access to the drug needed to save their child's life.
Sharjah family's joy offers hope
In July, The National reported how a baby in need of Zolgensma was able to receive it after her parents in Sharjah won a global lottery run by the medicine's manufacturer.
Five-month-old Malak Al Alami was selected to receive the drug for free as part of the programme run by Novartis, which allocated up to 100 doses at no charge this year.
Novartis appoints a third party to select recipients every two weeks. The family entered Malak into the programme in April.
