What price my girl’s life?

Amalia Amer and her mother Saima. Picture: Darren Robinson

THE parents of a three-year-old girl diagnosed with an ultra-rare life-limiting genetic condition say they will never stop fighting to get their daughter the treatment she needs.

Amalia Amer has Morquio Syndrome, a genetic disorder in which the body is missing an important enzyme that breaks down sugars in the body. Amalia has serious health concerns as a result - including breathing and vision problems, hearing issues and joint problems. The symptom will worsen with time, and currently there is no cure.. Patients - Amalia is one of only 100 sufferers in the UK - rarely live beyond their 20s.

Her determined parents Saima Javed and Amer Zaman, have joined a nationwide fight to get access to a new form of treatment that can help to alleviate symptoms and improve Amalia’s quality of life.

Saima (30), from Freehold, said: “Amalia was only about a year old when we first started noticing problems. She stopped eating properly and was often sick. She started squinting and struggled to breathe.

“We knew something was wrong but it took two years of tests and referrals before she was diagnosed. When they told us the news it was a relief to finally have a diagnosis - but when doctors explained the condition we were heartbroken. To be told that there is no cure or treatment was horrible — I burst into tears.”

The family then heard about a new enzyme-replacement drug, Vimizim, which had been undergoing a UK-led trial and had improved symptoms. They thought there was hope for their daughter.

But despite being licensed in 2014 and available in over 30 countries, the drug has yet to be approved for use here and patients are unable to receive it through the NHS. A decision had been expected earlier this year but has now been delayed until January despite a long battle by campaigners.

For Amalia and other children with the syndrome, the wait could prove costly. The condition can result in progressive deterioration in a matter of weeks or months.

Saima, who is also mum to two other girls, said: “I think it is terrible that they have put a cost on my daughter’s life. Amalia’s symptoms have worsened. She is such a energetic and lively little girl. It breaks my heart to think she could lose that and be wheelchair-bound.

“I’m dreading the day I have to tell her about her condition. I don’t want to have to tell her there is a life-changing treatment but she can’t have it.”

Saima has written to NICE, NHS England and members of the Government about Amalia’s condition and has set up a meeting with Oldham West and Royton MP Michael Meacher to discuss the case.

“The more people who are aware of it, the more we can do to make sure people like Amalia can access the treatment they need.”

To donate, or to find out more about the family’s campaign, visit “Amalias journey through Morquio” on Facebook.