Spinal muscular atrophy‐1 and gastrostomy

While reading the review of spinal muscular atrophy (SMA)-1 management of Australian children in this journal,1 I was surprised that no children had been managed with a gastrostomy. From my own experience of three children with SMA-1 managed as a general paediatrician in metropolitan Melbourne, a gastrostomy was performed in two cases. The feedback from the parents about the impact it had on the management of their child was extremely positive. The first case was a male infant diagnosed at 7 weeks of age. He required nasogastric (NG) feeds from 2.5 months of age and experienced considerable gastro-oesophageal reflux (GOR). His parents were distressed by the child's significant GOR and also the need to reinsert the NG tube, and I referred him for a gastrostomy at 3–4 months of age. Discussions were undertaken with the parents about the risk of death under anaesthetic or respiratory failure postoperatively. They were counselled by respiratory, neurology, paediatric intensive care unit (PICU) and anaesthetic consultants in addition to the gastroenterologist. After much deliberation and attempts at maximal anti-reflux therapy, he underwent the procedure at 7 months and was discharged home 2 days later. His disease progressed and he died at home about 3 weeks later. At feedback with his parents after his death, they reported how much they valued the time they spent with their son after the gastrostomy was inserted, as they could see his face without tubes and tapes and they attracted less attention when in the community as he looked ‘normal’. They also reported it was easier to vent his stomach and relieve his discomfort. The next case I managed was a female infant of a non-English speaking mother with a mental health disorder. Her understanding of advanced care planning was limited and her infant was not referred to me until 7 months of age. Gastrostomy was not pursued as her ability to understand and consent to such a procedure was not deemed adequate. The third case was diagnosed days after birth on genetic testing as the parent had a previous affected infant managed elsewhere. When I raised the option of gastrostomy early in her management, she was still well. NG feeds were commenced prior to referral for a gastrostomy, again with PICU and anaesthetic consultations prior to the procedure. The emphasis in her management was to allow her to experience as many age appropriate activities as possible, which was deemed easier without the NG tube taped to her face. While these are limited cases, I feel that early ascertainment of parental goals and acceptance of the diagnosis allow for open discussions about treatment options so that parents can make an informed decision about what is important to them in optimising their child's short life. For many families, being able to leave the child's face unimpeded by medical equipment is an enormous benefit.