The SMA Trust Shares Four Patients’ Stories
The SMA Trust has released a series of SMA stories that highlight the journey some young patients with spinal muscular atrophy have embarked on. The accounts have been written either by the patients or the parents of the children. The series aims to raise awareness of the disease and the different types of SMA and how they affect patients and their families.
The first story features Rowan, who was born in May 2011. Although she was small and two weeks early, neither the doctors nor her parents had any reason to suspect anything was wrong. It wasn’t until Rowan failed to meet some of her early development milestones did they have any cause for concern.
Sadly, at 10 months old Rowan was diagnosed with type 1 SMA. She was a great little fighter who constantly proved her doctors wrong, battling a bout of pneumonia and a stay at a children’s hospice. Eventually, Rowan did succumb to the disease and passed away peacefully at home with her parents when she was 18 months old.
Lily Bea was born in December 2011 and weighed more than nine pounds at birth. She was a healthy bouncing baby but within weeks, her parents realized that she wasn’t able to move her arms and legs the same way that other babies could and decided to get her checked out.
The doctors agreed that she was lacking in muscle tone and arranged for tests that showed Lily Bea had type 1 SMA. Lily Bea needed a feeding tube at eight months after her muscles became too weak for her to swallow on her own. She also began to experience frequent chest infections. Lily Bea passed away peacefully at nine months old, in bed with her mom and dad.
Ayden was born in March 2014 and for the first year he was progressing well and hitting all his development milestones on time. However, when he turned 11 months he was unable to support his own weight when standing which raised the alarm.
Doctors confirmed that Ayden had type 2 SMA and over the next six months his health began to decline and he was unable to stand, sit unaided, crawl or roll over anymore. The family quickly developed a routine to help Ayden including physical therapy, a cough assist machine and swimming. Although Ayden needs a wheelchair and his parents are concerned that he’ll require surgery to realign his spine, his parents feel positive about their son’s future and are ready to embrace new therapies and technologies which will help enhance his quality of life.
Anna was diagnosed with type 2/3 SMA when she was 18 months old following months of tests and hospital appointments. Over the years she has had numerous procedures to address her spine and contractures in her hips and knees.
Anna’s parents held off for the longest time before getting her a wheelchair, wanting her to experience walking for as long as possible. By the time she was eight, she was using an electric wheelchair for school and by 10, all the time.
Living independently with her partner, Anna requires help from two personal assistants. She’s currently enrolled in a clinical trial for a drug to help slow down the progression of SMA which she hopes will soon be available to all SMA patients.
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