Mother donates liver to AGS child

Three year old Prachi Gore, born with Alagille Syndrome, is recovering well after receiving part of her mom's liver during a complicated surgery in the first week of June. Since surgery at Manipal Hospital, Bangalore, Prachi's itching has stopped and her appetite has increased. While not disclosing Prachi's heart condition, the article quotes transplant surgeon Dr Ramcharan as saying “We hope more such people come forward for saving the lives of their near and dear ones."

The Sasha Sanction

At the start of an Alagille Syndrome care plan, considering the risks of surgery where more than one organ is defective, especially where one organ is seriously compromised as with pulmonary atresia, the family meeting should include cardiologist, gasterointerologist and palliative care service to establish parental consent for the surgical plan.
The word sanction suggests authorization and consent and true consent is best achieved after consideration of all viewpoints. Understandably interdisciplinary family meetings are logistically hard to setup. As Sasha did not have an initial family meeting of the two disciplines and palliative care was introduced not at the outset and not before the second palliative surgery but when she was dying, the Sasha Sanction suggests children with complex care needs and all Alagille Syndrome children with serious liver or heart decease would benefit from an interprofessional family meeting at the start of care and before each surgery. The Sasha Sanction is a credo for some complex care plans and should be an axiom for children with Alagille Syndrome and pulmonary atresia by presenting parents with the prospects of a childhood with multiple successful surgical interventions alongside the risk of both sudden death and the least palatable outcome of a lingering death due to surgical complications.

Study finds poor outcomes when pulmonary atresia presents in Alagille Syndrome

An Australian study published almost a year after Sasha died reviewed 5 cases of Alagille Syndrome and pulmonary atresia, Sasha's combination of defects, over two decades. The study confirms that surgical intervention can extend the child's life but that most children will die in their second to fifth year. I believe we honor these children and help the families when professionals clarify that these children are palliative and also clarify that death can be sudden or lingering over many months.

Pulmonary atresia (PA) is a rare presentation in AGS, but we were impressed by the poor outcome of such infants following review of our institutional experience over the last 20 years.... Five cases of AGS with PA were identified (see Table 1): 4 with PA and ventricular septal defect (VSD), 1 with PA and intact ventricular septum. Four of 5 patients (80%) have died as a result of cardiac disease, and the remaining individual is receiving palliative care....It is not clear why the patients with AGS who received systemic-to-pulmonary shunts did not show evidence of pulmonary arterial growth. In the 3 who had generous collateral flow, initial palliation was deferred, but in the current era we would aim to augment pulmonary blood flow as soon as possible to achieve what pulmonary arterial growth is possible. Unfortunately, even when this approach was aggressively employed (case 1), satisfactory pulmonary vascular development has not been achieved.

The negative impact of Alagille syndrome on survival of infants with pulmonary atresia J Thorac Cardiovasc Surg. 2007 Apr

The Sasha Sanction for fragile, multi-organ impacted Alagille children

1. In the early workup of the Alagille care plan to accomodate liver and heart defects, where transplant is not supported and heart defect is serious, the family meeting should include cardiologist, liver specialist and palliative care to establish parental consent for a surgical plan.
2. Before each surgery, this family -staff group reviews the history of adverse events during catheterizations, prior surgery and any other proceedures to consider the degree of cardiac intervention and surgical stress the child can tolerate.
3. The Sasha Sanction gives parents momentary permission to reconsider their own and the institutions impulse to surgery; it serves as the flight safety movie where you learn of the exits in case of crash; it puts up the flag, at this precise moment, that surgery can lead to life, death and lingering death.
4. The Sasha Sanction recognizes as particularly fragile and honors Alagille children with the serious heart defect pulmonary atresia and liver defect of unknown magnitude.

Background
Since parents are uniquely vulnerable to hope for continued life of a child that will otherwise die, it is not sufficient that a cardiologist secure a cardiac surgeon's agreement to undertake surgery. Parental consent to and authorization of surgery is best achieved after reviewing: risk and benefit to both organs, extent and duration of surgery, health of liver and all adverse events such as internal bleeding and surgical reentry, bleeding at the site of a catheterization, blood pressure drop during exturbation and any single incident of haematemesis (vomiting blood) suggestive of varices or portal hypertension. The final review of adverse events improves patient safety and empowers parents. Small incidents can suggest patterns in combination. The very process of acknowledging adverse events in complex and lengthy care removes the veil that undergirds the power imbalance between parent and staff and expands parents capacity and partnership with staff over feelings of diminished capacity, vigilance and distrust when incidents are not debriefed or, even worse, not acknowledged as important.

Interprofessionalism essential for family centred care
We like to think Sasha's cardiologist 'got us'. She carefully explained options and risks, considered our questions and viewpoints and even offered us a forgiving ear for our needed attempts at humor. Nonetheless, it is mission impossible to ask one physician to navigate this storm alone, each time, without adding occurrences of deep parent regret and doubt about one of the most devastating losses they will ever experience. In the quiet of the clinic we made our decisions, and later I wondered if we had asked enough questions. It is now so clear that these questions should be raised by the institution with a unique amount of experience, not parents for whom this is a unique event, and the institutional vehicle at Sickkids for consideration of the most complex decisions is the interprofessional family meeting. Hearing the separate voices of other disciplines values these disciplines and may encourage deeper consideration at a time when fatigue and grief can impair decision making. The simple absence of other services can create the impression that there is no issue to consider or even that one service is less confident in the capacity, speed or focus of another service. In Sasha's memory, I asked her primary physician to introduce palliative care in similar cases at the outset or before surgery and in her practice I understand she has made this happen, allowing parents, in her words, to consider when palliative care may be "a good option, not just the last option".

Good death
The palliative service offers supports when a child is expected to die within six months and is a consult service. Any parent can request a palliative consult however they may also feel that this would be 'giving up'. Only more routine, earlier introduction of palliative care can assuage that guilt. However there are very few areas of the hospital that refer palliative care in the absence of parent request due to severity of conditions. Palliative service staff can explain to parents that modern medicine views the relationship between recovery and dying as a wiggly line of ups and downs and not a straight diagonal where more palliation equals less life. Children can live, die suddenly, serially crash and be resuscitated or, most distressingly, suffer complications resulting in a lingering death. Staff can explain that parent hopes and dreams of recovery could lead to consideration of interventions that may keep the child alive in greatly diminished capacity. Staff can confirm that families understand they can bring their child home to the place they most love, that it can be done well and that it can give the child and family a very special final time together. Staff can share that Sasha rebounded in spirit immediately upon her return, decided to live another 5 weeks and that her parents wished they had brought Sasha home earlier.

Dedication
The Sasha Sanction is dedicated to Sasha's primary physician who was available at every step of Sasha's care and who redoubled her efforts, tirelessly rounding up multiple services, when Sasha got sicker. Sasha and her family were privileged to have a cardiologist as competent, empathetic and well positioned to effect action.

Alagille Updates: Links 4 Life

Today we received a new issue of Links For Life, The Newsletter of the Alagille Syndrome Alliance, and as always it was read from cover to cover. The newsletter has grown from its start 4 issues ago and was the fullest ever: more children and parent stories, exciting medical updates, itchy tips, a preview of the 4th annual Alagille Convention, birthdays and memorials, editorial comment, web fund-raising initiatives and new donation products to purchase. We love the fact that Sasha's birthday is recorded every year.

And there is big news in the world of Alagille. Finally, CLiC Centres are open for Study Enrollment of cholestatic liver disorders. Cholestasis is a condition where a paucity of bile ducts causes a decrease in bile flow from the liver to the intestine causing yellow eyes and skin (cholestatic jaundice), reduced birth weight, problems gaining weight and growing. Substances like bilirubin, bile salts, cholesterol and toxins that are normally eliminated in bile build up in the liver. The increased bilirubin causes jaundice, the build-up of bile salts in the skin often cause very annoying, sometimes severe itching that interferes with the child (and all the family's) sleep and scratching that can damage the skin. Too much cholesterol causes fatty deposits in the skin (xanthomas). Buildup of toxins and metals such as copper can cause liver damage. "In many patients, the symptoms of liver disease in AGS (jaundice and itching) actually stop getting worse and even improve after a few years of age. In others, the liver disease continues to get worse and may end up causing scarring of the liver (cirrhosis) or increased blood pressure in blood vessels going from the intestines to the liver (portal hypertension). If the liver disease is severe (as it is in 20-30% of patients), liver transplantation may be needed." (CLiC)
Sasha was ineligible for liver transplant (due to her pulmonary atresia) so we observed her liver for improvement, maintenance or signs of severity. We had clues that she was fragile (bleeding episodes during caths, at home and after the first surgery; blood saturation drop during exturbation). Sasha's liver disease was either severe or was the second cardiac surgery put unsustainable pressure on the organ.

Peter Hammond, a computer scientist at the UCL Institute for Child Health in London England, has developed computer software to speed up diagnosis of genetic conditions with up to 90% accuracy. 3D images of children with different conditions were scanned to create composite "average" faces of children with more than 30 different conditions. You can get more information about this exciting project on the BBC website and Research and Development News. 40-60 scans are needed and in some cases of very rare deceases that is more than there are children in the world with the condition.

And here is an inspiring Alagille story - Hunter Messer overcame many odds including getting cancer after his liver transplant to achieve success in life and sports (4 gold medals at the 2007 transplant games). What an inspiring young man! You can view his site here or watch a video at the local San Antonio Fox news (click on Sports then scroll to 11-04-07 to watch "Swimmer Overcomes Odds").

The Alagille Alliance is now registered with GoodSearch.com, the search engine with a social mission, and GoodShop.com, an associated online marketplace - both donate a portion of their revenue to non-profits. If you shop on eBay you can also donate to the Alagille Alliance via MissionFish.org.

Cindy Hahn and the Alagille Syndrome Alliance Board of Directors have done an amazing job to build this parent support group internationally and you can help by buying an AGS Awareness Bracelet and Bookmark. I can't wait for ours to arrive.

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.

NA-NOOSH-KAASES - Hummingbird

Several Sick Kids' parents and people interested in palliative care contacted us after the article and we talked of our experiences, celebrated our loved ones and shared our loss.

Children with Alagille Syndrome share characteristic features and one mom wrote that she saw her sister in the smiling picture of Sasha at age 18 months on the first page of the Life section. Reading the story she realised Sasha and her sister shared far more than a facial likeness and so she contacted us.

And so we learned about a little princess from a northern island who passed away after liver surgery having just entered her teen years. She was given the Ojibway name Na-noosh-kaases (Hummingbird) in a ceremony at the Hospital for Sick Kids Critical Care Unit. Her body was bathed in water steeped in cedarwood and then she taken out to the street. And she was named Na-noosh-kaases because, as her sister put it, "Hummingbirds are tiny but fierce fighters."

The connections between the two girls are truly uncanny and Hummingbird gave us a glimpe into what Sasha's life might have been like later. She loved to walk, as if the movement calmed her and would call out in her squeeky voice from her bed to the nurses station asking for the phone, she demanded attention. I remember little Sash racing along the walls of our house, hand over hand, calling out to us whenever she was awake, loving to play with her cellphone.

A hummingbird was painted in CCU in her memory, welcoming those walking along the first corridor through the doors to the isolation rooms and the nurses station.

Sadly, I seldom see humingbirds in the big city. Sasha and her never met and we never knew of her long struggle to live and the many heights she climbed. Both her sister and I dearly wish they had met and that we could share knowledge gained over many years of care. The Privacy Policy we sign at Sick Kids allows patient information to be shared for only three reasons: within the hospital to allow for the care of our kids; for the hospital to post us a follow-up study; and for the Foundation to request financial assistance.

An excellent fourth reason would be for parents to meet other parents whose kids are going through similar experiences. All that would be needed is a tick box on the privacy form indicating that parents are interested in talking to other parents whose kids have the same conditions or treatment plans. There would be no need for bureauocracy, social workers could look in similar files for a tick when a parent requests to talk to another parent and have another tool to support parents.

It was good to hear of you, sweet Naanooshkaases.