Bushra Hamasha has a voracious appetite for books, while her younger sister Saba feels as if she is "glowing like sunshine" each time she visits hospital for regular injections to stop her tiny body being overwhelmed by a rare disease.
Both girls, 16 and 11, have type 6 mucopolysaccharidoses (MPS 6), a genetic disorder that affects fewer than one in 25,000 children.
Monday, February 28 is international Rare Disease Day, an opportunity for families like the Hamashas to share their experiences and help more people understand little-known diseases.
The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes.
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Without those enzymes, cells find it difficult to build bone, cartilage, tendons, corneas, skin and connective tissue, leading to growth problems.
The biggest challenge facing families is an accurate diagnosis so children like Bushra and Saba can receive the relevant treatment at the right time.
Their father, Jordanian mechanical engineer Samir Hamasha, first noticed symptoms in eldest daughter Bushra when she was 1.
“We saw symptoms in her face and she was crying a lot but we didn’t know why,” he said.
“My sister-in-law had two cases of MPS 6 in her family so we thought it may be the same thing.
“We searched for a test to diagnose in Jordan in 2006.
“They took urine samples and said there was a sign of this rare disease but to confirm it they had to send a blood test to the UK.
“It was then we were given the diagnosis.”
Rare diseases such as MPS 6 are more common in consanguineous marriages, as was the case with Mr Hamasha and his sister-in-law, who is related to her husband.
As treatment was not available in Jordan at the time, the Hamashas were forced to look overseas for suitable therapy.
“I was already working in the UAE and living in Jordan during summer,” said Mr Hamasha, who has six children.
“I asked a doctor in Jordan, who recommended a company in the UAE that could provide the medication we needed.
“We visited a hospital in Al Ain and then Abu Dhabi before finally deciding to see a specialist paediatric neurologist there to treat Bushra.
“We struggled with the insurance company at the start as the medication was very expensive.
“My company could only provide up to Dh500,000 ($136,130) so our claim was rejected.
“Thankfully the UAE government had a plan that would help and support us by covering the rest of the costs of medication for the whole year.”
Naglazyme is an enzyme replacement therapy, the only known treatment for MPS 6.
The total cost to date has been more than Dh1.5 million for both children.
The infusion procedure takes about 10 hours to complete and prevents the children’s condition from deteriorating.
Both girls are intelligent and Bushra reached the last stages of the UAE reading challenge. She has read more than 50 books.
“My favourite book of all time is The Power by Rhonda Byrne, it has a very positive vibe and I would recommend everyone to read it,” said Bushra.
“It is a good book for young and old people, it is amazing.
“My days are normal, like any kid but my height doesn’t help me a lot so I do need help for some things.
“My school is very supportive and everyone there is very understanding.”
While Bushra dreams of one day running her own business, her younger sister is happy to be going back to school after months of restrictions enforced by the pandemic.
“I wanted to go to school every day during Covid and I missed it very much,” said Saba.
She said she thought online learning had affected her educational development. "I like to be in school with others and doing lots of activities," Saba said.
“Physical education is my favourite subject and I am quite good at maths too.
“When I go to the hospital, I stay for a long time but I know I have to wait until the medicine finishes.
“It burns a little bit but it makes me feel better. The next day I have more energy, it feels like I’m glowing like sunshine.”
Rare diseases usually affect children
An estimated 7.8 million people in the Middle East are living with a rare disease – three in four of whom are children.
These rare conditions are often lifelong challenges of which only sufferers or those directly involved tend to be aware.
Marwan Junahi is chairman of the UAE Rare Disease Society, formed in 2018 to support families.
“There are three stages these families go through – pre-diagnosis, diagnosis and living with the disease,” he said.
“The average time that it takes to discover a disease is 6 to 7 years across the world. We are working on finding out the timespan for people in the UAE.
“We want a national database of rare diseases to better understand where we stand in the UAE, from there we can build and look if we have a diagnosis problem and improve our capabilities.”
Genetic testing has improved hugely in 10 years, with costs reducing from about $10,000 to only a $1,000 or less.
In 2020, the Emirati Genome Project began collecting blood samples and DNA cheek swabs from tens of thousands of citizens to help with genome sequencing and the diagnosis of conditions caused by DNA changes.
“This project will help in this area, we just need to make sure we connect the doctors with families, government entities and pharmaceutical companies,” said Mr Junahi.
“The biggest step for families is getting a proper diagnoses as this is where a lot of time is lost.
“Patients can often live on painkillers for a long time until they know exactly what the reason for their condition is.
“Once they have a diagnosis, it can be easy to deal with and manage. We want no one to be left behind.”
