Emirati girl with spinal muscular atrophy takes her first few steps at Abu Dhabi long-term care hospital

Abu Dhabi: A two-year-old Emirati girl who last year received an advanced gene replacement therapy to treat her spinal muscular atrophy (SMA) has recently taken her first few steps in the capital.

Afra is one of a number of children in the UAE who is benefiting from a raft of new and comprehensive treatments to treat SMA, a progressive and debilitating neuromuscular disease that can be fatal if untreated.

Improving condition

Under treatment at Salma Children’s Rehabilitation Hospital, a long-term post-acute care facility in the network of public health provider, the Abu Dhabi Health Services Company (Seha), Afra has even taken a few sips of water already. Her caregivers are now confident that she will continue to improve with the correct interventions.

Advanced gene therapy

Diagnosed with SMA soon after birth, Afra received the gene therapy when she was 17 months old at the Sheikh Khalifa Medical City, a tertiary referral hospital in the Seha network. The therapy, which is prohibitively expensive for many, was imported for her benefit. She was then transferred to Salma Children’s Hospital three months later.

“When Afra came to us, she was still bedbound, and required breathing support. With regular physical therapy, we have been able to wean her off the respiratory support, and have helped her to take a few steps. Most children with SMA also cannot receive oral nutrition, but Afra is able to sip water from time to time. We are therefore hopeful that she will improve further with continued physiotherapy, occupational therapy and speech and language therapy,” Dr Hiba Elamin, paediatrician at Salma Hospital, told Gulf News.

Continuing support

The doctor added that the ultimate goal is to support Afra to live without support, and to be home with her family.

“At present, we provide daily physiotherapy to help her sit on her own, and to help her walk and improve her general muscle tone. She also vocalises quite a bit, so we want to help her to speak, and to learn how to express herself,” Dr Elamin said.

Speaking to Gulf News, Afra’s mother said she first noticed that something was wrong when her daughter began to seem increasingly weak at the age of three months.

“I was devastated when we learn that our baby had SMA. Following the excellent care she has received thus far however, I am now hopeful. She is at home in Salma Children’s Hospital, and I am so happy to see how much better she is doing with every passing day,” she said.

Upsetting diagnosis

A diagnosis of SMA is upsetting for families because the genetic disease is progressive and often fatal. The condition remains the leading genetic cause of infant mortality in the absence of therapeutic intervention. A child is affected with it when both parents pass down a missing or faulty survival motor neuron 1 (SMN1) gene to the child.

According to the Centre for Arab Genomic Studies, the prevalence of SMA in GCC populations is thought to be at least 50 times higher than in the United States, with more than 50 cases per 100,000 live births, compared to only 1.2 in the States. It is one of the diseases that the Abu Dhabi Emirate’s Premarital Screening and Counselling Programme screens for, before couples wed, in order to alert couples about possible risk.

Available therapies

While SMA is incurable, a few treatments worldwide currently halt disease progression by stimulating production of the SMN gene. These are available at the SKMC, Seha has announced earlier.

The gene replacement therapy that Afra received, on the other hand, replaces a missing or faulty SMN1 gene with a functioning gene, and is only approved for children up to two years of age. Another family at the Salma Children’s Hospital is currently working to fund and source the imported gene replacement therapy for their child.

Additional support

Therapy and intervention can greatly improve quality of life even for older children with SMA.

Bushra Ali, an Emirati public relations officer in Dubai, has two children housed at Salma Hospital, and she says they are doing well with the care they receive.

“Both Sara, 13, and Ali, 6, are healthy and happy at Salma Hospital. Using Eyegaze [an eye-driven communication device], they are both able to send me messages. I also call them daily on Zoom. With this kind of support, I certainly feel less isolated from my beloved children,” Bushra said.

Empowering patients

Sara spoke to Gulf News through her Eyegaze device, and discussed her likes and dislikes.

“I like to watch English language Netflix shows, and I like to study. I also enjoy listening to music in different languages. I have six siblings as well,” she said.

Inquisitive and engaged, she also asked this Gulf News reporter her nationality, and whether she has children.

“Sara is one of our oldest paediatric patients in terms of age, and she is very cognitively advanced. She keeps track of everything that goes on around her, and loves to visit malls, parks and other attractions. We are currently working to empower her in her decision making. For instance, we took her shopping so she could choose what she wanted for herself, and the next stage is to help her shop online,” Sara’s care nurse said.

Long-term care beds

Salma Hospital has added 83 beds for long-term and post-acute care to the Seha network. While the majority of its patients are currently children, the hospital is also open to adults requiring care. In addition to patients with SMA, the hospital cares for children born with conditions that necessitate breathing and other forms of support, as well as those who require rehabilitation after an accident or injury.

“Through adding Salma Children’s Rehabilitation Hospital to the network, we are strengthening our paediatric and specialised rehabilitation [capabilities] and expanding access to even more patients from Abu Dhabi and beyond. Paediatrics continues to be a core priority area as we continue to elevate our modern integrated healthcare system to deliver the best care for both children, in line with the highest international standards,” said Dr Anwar Sallam, group chief medical officer at Seha.

“Our dedicated medical team at Salma provides personalised and customised treatment to every patient, in addition to counselling families about the best care and development plans for children with complex healthcare needs,” added Philipp Mielenz, founder and chief executive officer of Salma Hospital.