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.

Sasha's life in the words of Jimmy Cliff

Come into my life, oh baby, Come in today ... come in to stay, Come into my life, oh baby.

I've got a hard road to travel and a rough rough way to go.

I can see clearly now the rain is gone, I can see all obstacles in my way, Here is that rainbow I've been praying for, It's gonna be a bright bright bright bright sun shiny day.

Many rivers to cross, But I can`t seem to find my way over, Wandering I am lost as I travel along.

Sitting here in Limbo, Waiting for the tide to turn.

Well, they tell me of a pie up in the sky, Waiting for me when I die, But between the day you're born and when you die, They never seem to hear even your cry.

Yesterday I got a letter from my friend ... and this is what he had to say: 'tell all my friends
that I'll be coming home soon, my time will be up some time in June'

Words by Jimmy Cliff

Sasha died in June 2006, she was precious but we didnt know how precious and just when we thought she was thriving she was struggling and then fell into the dark maws of complicated surgical complications. And we sat in limbo waiting for the tide to turn and her return home was a triumph. We miss you sweet peach.

Permission to be happy

The other night we were remembering our sweet peach and talking of the one arriving soon and it felt like a painful dejavu. Sasha was dying at 2 as Mia approached; Mia is an exuberant 14 month as her sister (we think) arrives. Mia's pregnancy during our time at SickKids is lost in the mist while this little one proclaims her presence early with lots of turns and heart burn.

On this 14 month anniversary of Sasha's death we are grateful for the opportunity extended by Margaret Keatings and Bonnie Fleming-Carroll for Sasha's fund to participate in SicKids Hospital's first Interprofessional Care week later in November. The plan is to collect stories on multi-disciplinary, interprofessional and family centred care. More details to follow.

Sweet Peach, even as we remember you with tears and smiles, Mia gives us permission to be happy (as Kari Murphy put it so well). We think of you every day, here is a little song for you we have been playing recently. "Well the first days are the hardest days, dont you worry any more, cause when life looks like easy street, there is danger at your door. Think this through with me, let me know your mind, Wo, oh, what I want to know, is are you kind? ... You know all the rules by now and the fire from the ice. Will you come with me? Wont you come with me? Wo, oh, what I want to know, will you come with me? It's the same story the crow told me; its the only one he knows. Like the morning sun you come and like the wind you go. Aint no time to hate, barely time to wait, Wo, oh, what I want to know, where does the time go? Come hear uncle johns band playing to the tide, Come with me, or go alone, he's come to take his children home." "Uncle John's Band", Grateful Dead