Lurie Children's Hospital Visit #1

So I have to start off by saying THANK YOU so much for all of your support, prayers, well wishes, and messages!  It means so much to Jeremy and I to know how much love our little girl has for her, and how many of you care so much about our family.  We have been through many scary, uneasy times with Macy over the years.  It’s very easy to get down when you are going through times like this, but so many times over the last few days I was brought to tears by all of the love and support, and truly know that we aren’t in this alone. 

I am going to try and give an update that doesn’t contain too much medical jargon, but I can’t make promises.  I will answer some questions that we have had asked that may better help you understand what is going on with Macy.

What is Macy’s diagnosis with her liver? 

Following open heart surgery in 2007 (age 20 months), lab work led us to the discovery of a liver problem.  Results from an ultrasound were inconclusive, as well as were results from a CT scan.  That led us to a veno-gram in 2008 (age 2).  A veno-gram is a procedure in which they go in through the right upper neck vein down to the liver to take a closer look at the mapping of your liver, where veins runs, etc.  Doctor came out that day and confirmed our fears that Macy had Abernethy Malformation Type 1.

 

What is Abernethy Malformation?

That day the doctor explained that Macy would need a liver transplant sooner, rather than later.  He said that basically, Macy has an absent portal vein.   Your portal vein is important for your body.  In a typical body, the portal vein is the path your blood takes to your liver to get cleaned, and then continues out into your body cleansed (to your lungs, heart, brain, etc).  He stated that Macy did not have one, therefore her blood is never getting cleansed before going out to her other important organs.  At the time, there were 30 diagnosed cases in the world.

 

What is known now about Abernethy Malformation?

Well, let me first start by telling you about an AMAZING doctor named Dr. Riccardo Superina….a few years ago, he came across information about a little girl suffering from this condition, contacted the family, and told them that he thought he could fix her!  This mother had been searching for answers , like me, and started a blog hoping for the best!  She is the reason, we have been led to Dr. Superina! 

It is now believed that many of these patients actually DO have a portal vein.  Blood needs to be blocked from the shunt (wrong pathway), and rerouted back to the liver.  There is a lot that goes into this process, but it can and has been done.  There are now about 85 cases in the world due to more awareness. 

 

If she has been living with it this long, why do something now?

Prolonged life with Abernethy Malformation can cause a number of problems.  First of the all, since the liver has been lacking blood flow, the liver is small and misshaped.  It tries to grow, even without all the proper blood and essentials it needs, and typically starts to grow nodules that should not be there.  Most patients with Abernethy face high ammonia levels that can lead to the diminishing of cognitive functions.  Long-term life with Abernethy can also cause pulmonary hypertension.  In a patient with heart conditions and breathing conditions, this is the last thing you want to happen.  So we NEED to fix it.

So what did they do this week for testing?

Macy had a CT scan and lab work done on Tuesday.  On Wednesday she went in for an in-depth veno-gram.  They went in through her right upper neck vein and down to her liver.  First they measured her current blood flow pressures to see what they all look like currently.  They inserted contrast so they could visually see the blood flow.  Then they slowly inflated a balloon in her shunt (wrong pathway) to see where the blood flow would go.  They were looking to see if the blood might change routes and flow toward her liver revealing her hidden portal vein.  Nothing happened.  No blood flow to her liver.  This is a scary procedure because you need to work carefully and quickly because you don’t want to cause a backup of blood flowing the wrong way or any clotting.  Knowing that many of these patients have presented a portal vein that they did not know was there, he slowly deflated the balloon, moved it, and inflated again.  Finally after moving it along quite a bit……HER PORTAL VEIN WAS FOUND!!!!  IT IS THERE!  It is not a great portal vein, and the blood didn’t beautifully enter into her liver branching out like they would hope for, but they can work with it!  They removed the balloon, and her liver is back in the state it was in prior to surgery.  In some patients they can close it off right then because they have a nice portal vein and good branching in the liver.  Other patients follow a different more invasive surgery path. 

So what does this mean?

We don’t know.  We have talked to the surgeons, but not the doctor following the procedure.  Our doctor is the head of transplant at Lurie Children’s Hospital and was in surgery all day yesterday.  He will make the final call, but it sounds like Macy is a candidate for surgery to fix it!  We don’t know what route of fix he will want to take, or any other information at this time.  The entire team will meet on Tuesday next week to discuss Macy’s case.  They will call us sometime next week. 

What changes could we see for Macy?

It was great to talk with all the specialists who know more about Abernethy Malformation than any other specialists in the world.  They were the founders of this fix, have been studying all the cases, and travel around the world to teach others about it.  Growth is affected by Abernethy, and Macy should start growing much more after it is repaired.  Also, most of the patients experience cognitive issues, almost described as a fog.  They have difficulty concentrating, processing thoughts and ideas, organizing, paying attention, etc.  This is due to living with constant high ammonia levels.  All of these symptoms seen should be corrected after surgery.  So we will see growth, we will see a difference in Macy’s cognitive abilities.  We may also be able to reduce the amount of medications she is currently on since many of her deficiencies may be connected to the lack of liver function.  

We will update when we know more!  I also have to tell you….The Ronald McDonald house is an amazing place for families to stay while their children are visiting the hospital.  They helped us to feel at home, fed us, and gave such peace and comfort while we were there.  The groups that volunteered each lunch and dinner to feed the families were amazing, as well as the groups who came bearing gifts for the kids and activities each night.  It was so AMAZING!  Once again, thanks for all your love and prayers!

Here are some of our pictures from Chicago, The Ronald McDonald House, and Lurie Children's Hospital.