Alagille Syndrome diagnostic, IPP and family communication challenges: the view of Sasha's GI clinician

Pamela and I met with Dr Simon Ling, Sasha’s GI clinical lead. The meeting was a long time coming as we were conflicted by the role of the GI service in the management of Sasha's Alagille. When Sasha vomited blood in the summer about six months before her second cardiac surgery it was attributed to a 'posterior nosebleed gone awry'. There was mention of a possibility it indicated bleeding varices and early or developing portal hypertension but this was not investigated. An investigation would have required endoscopy (defined as a minimally invasive scope that requires some degree of sedation and entails some risk of perforation). Recognizing developing portal hypertension could have been a flag to reassess the advisability and risk of a second palliative cardiac surgery. One of Dr Ling's primary areas of interest is in the early diagnosis of portal hypertension.

Dr Ling is a clinical specialist rather than research specialist however he provided by way of overview that there exists a large data set for adult liver decease but a much smaller data set for children and very little for Alagille kids with serious cardiac defects. He sees the discipline as having tried to apply the adult approach to see if similar but he suggested it appears adult treatment outcomes are not similar with 1-2 year olds.

As mentioned, one of his personal interests is in the early diagnosis of varices and portal hypertension, improving non-invasive measures beyond ultra sound and blood work to help clinicians with this diagnosis and then treating paediatric portal hypertension to prevent the bleeding. The issue among doctors, as he sees it, is: "Why do we look at varices if we cannot treat them." The clinic is creating a simple questionaire to ask patients if they wish to have an endoscopy to confirm varices, considering the risks. Retrospectively Dr Ling confirms that with her liver, “Things were a lot worse than we thought it was with Sasha.” As for family centred care and interprofessional practise: “I am interested in how we manage care across multiple teams. The issue of inconsistent communication comes up with surprising regularity.”

For Dr Ling, Sasha was unique. He was dealing with probabilities and didn't see definite indications the liver was struggling. Even if varices were present, and speaking to whether this was a flag to halt the surgery, he confirmed the liver can tolerate heart surgery with varices. With Sasha, he sees care as getting into a cycle: if we do this step, it solves this problem, then there is another and that becomes the horizon and so on. Especially with multiple care teams and complex issues, "It becomes difficult to step back and reassess."

We left the conversation with Dr Ling with several followup opportunities: his connecting with Bonnie and Margaret about the family story underway as part of interprofessional and family centred care education; us all thinking about research opportunities (which could be in the $55,000 dollar range); and consideration for expanded normalization of the palliative conversation from small bowel cases (referred automatically to palliative care) to multiple organ cases like Sasha.

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