Like many others, I’d been following this blog started by a family whose little girl, Avery Canahauti, suffered from spinal muscular atrophy (SMA). I was terribly sorry to hear of Avery’s unexpected passing this week. This family has done a great service to children and families with this disorder by bringing it to the public’s attention.
SMA is a rare but terrible disorder characterized by progressive muscle weakness. It does not affect intelligence. Babies with the most severe form (type 1, sometimes called Werdnig-Hoffman disease) often die in the first two years of life due to breathing problems. In fact, it is the number one genetic disorder killing children under two years of age, usually due to breathing problems. I care for several patients with SMA as part of the Pediatric Neuromuscular Service at the Massachusetts General Hospital for Children. In light of Avery’s family’s wish to spread awareness of SMA, here is some information about this disease and how we treat it from a breathing standpoint.
Breathing muscle weakness in children with SMA results in:
- Frequent pneumonias due to weak cough muscles (primarily the muscles of the stomach wall).
- Small chests due to weak breathing muscles, resulting in small lungs.
- Problems with swallowing due to weakness of the upper airway and swallowing muscles. This makes it difficult for these children to grow (worsening lung growth) and increases the risk for pneumonia as food can get into the lungs.
- We teach the family how to use a cough assist device for pneumonia prevention and teach them how to use it. I recommend that it is used at least daily.
- We provide an oximeter. Oxygen levels <95% should prompt use of the cough assist device and a call to our clinic immediately.
- We start nocturnal bilevel ventilation. This is pressure given via a mask. It is called bilevel (or sometimes BiPAP, Bilevel Positive Airway Pressure) because it gives a small amount of pressure at all times, and a higher amount of pressure when the child breathes in. This allows a full breath and chest wall expansion, and helps with lung growth.
This sounds straightforward. Believe me, it isn’t for the families that have to do this daily. Even if these children are in the hospital (and they are, some of them very frequently), family members frequently help hospital staff as the assisted cough has to be done very frequently when the child is sick; it is a real team effort.
In spite of the difficulties of respiratory care, it is critical to start early and be consistent. The younger children start, the easier a time they have tolerating these therapies, especially when they are sick and really need them. Moreover, stretching the chest and encouraging lung growth gives children more reserve.
There is no doubt that this is a terrible disease associated with many sad stories. What I loved about Avery’s blog was the emphasis on enjoying life and staying positive in the face of terrible hardship. Although these are life-extending therapies, SMA is still a life-limiting condition resulting in severe physical disability and a shorter than normal lifespan. Avery’s spirit, and that of her family, moved me, along with millions of others. Another incredible story is that of Mike Phillips, a 27-year-old male with SMA (I suspect type 2, a milder form) who decided in his 20s that he wanted more independence, and started dating. He was profiled in the first episode of the This American Life television show, with the voice over of his words provided by Johnny Depp. There is an excerpt here; If you want to watch the whole video, you can stream it if you have Netflix.
I feel fortunate every day to work with children and families with neuromuscular diseases such as SMA. I try really hard to meet the needs of the children and their families. Given the severity of this disorder, some families elect to be less aggressive with breathing treatments, so I start with a conversation about their wishes for their child, and how I can help them have the best quality of life possible.
Anyone who knows one of these children has been inspired. Unfortunately, at this point, all therapy for children with SMA is either supportive or experimental. Avery’s family have asked that donations be made to benefit the gene therapy work of Dr. Brian Kaspar. You can make donations here. Please get involved.