The AMAZING Dr. Superina!

Last week, the mother of another Abernethy patient interviewed Dr. Superina in an Instagram Live Q & A.  It was an hour long interview, with some wonderful questions!  I decided to summarize the interview here to highlight some of the material that I thought was interesting.

• Dr. Superina became a surgeon just by fate, it wasn't some long thought out plan since he was a child. He would've rather been in the operating room rather than making rounds.  
• As a hub in the U.S. for Abernethy patients due to his abilities, Lurie Children's Hospital in Chicago has only seen about 70 cases total due to how rare it truly is, but only operated on 17 patients.  Macy is one of those 17.  For perspective, he compared this to the billions of gallbladder surgeries that have been completed.  
• An ultrasound is the most common way to diagnose Abernethy Malformation.  In some cases, they also do CT scans and MRs.
• He believes the cause of Abernethy stems from the cardiovascular development.
• Physicians used to believe that Abernethy didn't need treated, however we know now that it does.  Before corrective surgery, the blood is not filtered by the liver due to a lack of blood traveling through the liver.  Therefore, patients have an underdeveloped liver, possible liver tumors, high pressure in the lungs which can lead to heart problems and breathing problem, failure to thrive, and high ammonia levels that impair clear thinking and the inability to process thoughts.  It is a very hard disorder to diagnose because these symptoms don't necessarily warrant a physician to think it might be Abernethy.
• The first patient that he saw had an associated liver disease that needed a transplant.  He had never heard about it or read about it before that.  There isn't much literature, but he is willing to help any physicians that need to know more.
• He would never recommend a liver transplant for Abernethy!  He said patients are still getting transplants for this.  Most patients that come to him have been told they needed a transplant, and are seeking more info themselves or a 2nd opinion.  This is our case!  We were told at age 2 that she would need a transplant, but found him by chance of a mother's blog trying to get the word out and seek info herself.  
• 25% of his Abernethy patients have some sort of heart defect.  
• Many patients also have lung problems.  
• He recommends treating it as soon as diagnosis.  Sometimes in older patients there becomes a time where the portal vein is unsalvageable.  
• He talked briefly about Macy's case of being an Abernethy Malformation patient and being transformed into an Rex Shunt patient.  He lit up talking about how they are excited about it! He said it is extremely rare. Essentially a Rex Shunt is for a patient who is born with a normal liver and normal portal vein (the vein that runs to your liver), but somehow their portal vein stops functioning.  Abernethy patients are born with very abnormal livers and very abnormal portal veins.  
• Blood thinners came up.......it is essential and should last for at least 6 months.  
• He does not believe that Abernethy Malformation is hereditary.  He has never seen it run in a family. 
• Meds and liver......we do not need to worry about meds harming the liver.  Alcohol?  There is no concerns, however no large amounts should ever be taken in any person.  
• They are starting some tests to learn more about cognitive abilities.  Many of his patients are diagnosed with ADD or ADHD.  In most patients, this is due to the Abernethy Malformation, and is not a true Attention Deficit issue.  It should get better over time after a repair.  
• He is working very closely with a hospital in Paris, France, as well as Japan to make Abernethy Malformation known world-wide.  
• Prior to corrective surgery, high ammonia levels are sometimes treated with medications. Other patients are given a low protein diet.  
• He travels the world to do this operation.  He has traveled as far as Brazil and Israel.  He said you need sophisticated equipment, which is why he is somewhat limited to where he can perform this procedure.  He has done surgeries in third world countries like Nepal to do other liver surgeries.
• They have not studied growth in Abernethy patients, however they have in Rex Shunt patients.  There is a correlation because when nothing is going to your liver to be processed correctly to feed the rest of the body. Corrective surgery usually helps growth.  
• He has trained many surgeons, but they often become general surgeons.  He has only trained 1 or 2 surgeons that are confident enough to do Abernethy and Rex Shunt surgeries.  

We head back to Chicago next week to see our Chicago team!  Macy will have an ultrasound, lab work, and clinic visit.  She told me that she is going to beg to come off of her blood thinners, but I highly doubt that will be the case.  She will most likely be on it until October, and then another blood medication for 6 months following that.  We are anxious and excited all at the same time!  She seems to be doing so well!  Please pray for great ultrasound results, good lab work, and a wonderful 3 month check up with the team!