What is Abernethy Malformation?

I have had quite a few people ask me what Macy's liver condition is, and how she was diagnosed.  So this is your fair warning that this is a medical post with lots of medical talk.  I also wanted to share a video with you about our doctor in Chicago, Dr. Superina. 

So what is Abernethy Malformation?

There are two types of Abernethy.  Macy has type 1, which is more common in females.  Type 2 is more common in males.  So in a "normal" person, your portal vein carries your blood to your liver, the liver cleans it, and it is then sent out into your body.  In Macy's body, her portal vein bypasses her liver, and the blood travels around it, not through it.  Therefore it is not getting cleansed.  We have been told that about 1/3 randomly makes it into her liver to get cleaned, and 2/3 goes out to her body without. 

How was she diagnosed?

In 2007, at 20 months old, Macy had open heart surgery to repair her Tetralogy of Fallot (heart defect).  Following the surgery, she had a very difficult time recovering.  During some labs, doctors noticed that Macy's liver enzymes were through the roof.  They did a bedside ultrasound to take a closer look, and knew something wasn't right.  At that time, they scheduled a CT once she was fully recovered from her open heart surgery.  We went back a few months later for that CT, and confirmed that things weren't working as they were supposed to.  At that time we scheduled a venogram.  In February 2008, at the age of 2, Macy had the venogram completed.  The surgeon confirmed our fears that is was Abernethy Malformation.  At the time, there were 30 documented cases in the world.  He told us that the only fix was a transplant, and that it would be done sooner rather than later. 

How did we make it 8 more years without surgery?

There was very little known about this condition when Macy was diagnosed.  As a matter of fact, our GI doctor at the time knew nothing.  When I asked for literature, he sent me stuff he googled off of the internet...things I had already found.  We ditched him for someone with more knowledge a couple years back.  At the time of the venogram when the doctor told us that we would have a transplant sooner rather than later, he didn't know much about Abernethy.  It is actually a rather slow progressing condition that slowing affects the patient.  We have been followed with labs every 6 months, mainly checking her ammonia levels in her blood.  They have been stable.

 

So why are we "fixing" her now?

More research has been done on Abernethy, and more patients have been diagnosed.  There are now more than 80 patients with Abernethy.  Sounds crazy to think my daughter is 1 of 80 with this condition in the whole world!  Our current GI doctor  knows more about this condition.  It slowly progresses and can affect many organs in the body.  More recent studies have shown that the long-term affects of not "cleaning" the blood and living with high ammonia levels will eventually cause damage to the lungs, heart, and brain.  It can also cause tumors to form on the liver.  Therefore, it is time to do something.  Any damage that is done already will be reversed following the "fix". 

Along came Dr. Superina.......

Before Dr. Superina, the "fix" was transplant.  They were still transplanting kids in 2008.  Then along came Dr. Superina who figured out a way to get blood flow to the liver without transplant!  I searched and searched the web attempting to connect with a family or someone who knew more about Abernethy.  That is when I came across a family who had a daughter with it.  They had started a blog about her Abernethy.  They were also trying to find help and connections as well.  Amazingly, Dr. Superina found them, and he fixed their daughter!  After that, I connected with this family, and brought research to our doctors at Riley.  Our GI doctor reached out to Dr. Superina.

What will this surgery mean for Macy?

It will not only completely "fix" her, but it will reverse any damage already done, start cleaning her blood, protect her organs from any further damage, and should start to allow her to grow properly.  Her liver is the cause of her not body not receiving the proper amount of growth hormones, which is why we inject her with them.  It's all connected!  This will be amazing for her!  I am not allowing myself to believe that transplant is even an option anymore.  She will be fixed through surgery, and she will thrive! 

This video of Dr. Superina says it all!  He says exactly what I need to hear! 

https://youtu.be/OKc7NWZ60j4

All That and a Bag of Chips

I just thought I would give you the low down on all the things we've been up to recently and a medical update.

Things are going good here!  We have had a trying and amazing month. 

Here is the gist of it in my amazing bullet-style!

• McKenna turned 6!  Her party was amazing...."Cupcake Wars".  The entire family that was present participated in a cupcake wars party, and used all the creative skills they had to decorate a cupcake.  There were some amazing results!
• We had an amazing experience at the WZPL 99.5 Request-a-thon for Make-a Wish.  Macy was invited to speak on the radio about her experiences.  We were given a tour of the studio by some amazing Make-a-Wish employees, got to spend some time with one of Macy's awesome wish granters, met the CEO of Make-a-Wish, and were blessed to share Macy's journey over the air!  It was amazing! 
• Macy's trip was fully funded, and we will be heading on her wish trip in March!!!!  We are beyond excited!  Macy has wished for a Disney Cruise, to meet Elsa and Anna, and swim with the dolphins.  We will be doing all of that and much, much more!  What a blessing for our family!
• We have hit some local events recently, such as the Ringling Bros Circus & Christmas at the Zoo!
• Unfortunately, Macy has been sick for much of the last month and a half.  It started in November with pneumonia, then a multi-day stomach virus, and currently a sinus infection that is causing some junky breathing issues.  We've had a lot of medicines, and round the clock breathing treatments, as well as some weight loss.  We are trying to pack those pounds back on!
• McKenna got the stomach virus too, but only vomited a few times.  After going to bed that night, she woke up with a sensitive stomach, but no vomiting.  We were so happy it seemed short-lived with her. 

 

 

Now, for the medical update.  Macy is continuing to do a great job with her injections.  We now have an okay through Eli Lilly for supplied medication for a year.  We have recently visited Metabolism/Genetics as well as Endocrinology.  They were both extremely pleased with her growth in height.  She is responding very well to treatment.  Last year, Macy only grew 1 inch the entire year.  She has now grown 1/2 inch since starting treatment!  We are amazed by this, and it's just going to get better.  Our endocrinologist said that we will continue to see growth in height, and weight will start increasing as well.  They all agree that the illnesses have caused her to lose weight, and that at this time there is nothing else to worry about.

 

We finally received a call from Dr. Superina's office at Lurie Children's Hospital in Chicago.  We have a date and more information.  We will head up there our second week of spring break, following Macy's wish trip.  We will be there for this initial appointment for 3 days.  Day 1 will be a consultation appointment with Dr. Superina, lab work, and a CT scan.  Day 2 will consist of a Venogram with contrast.  They will go through Macy's neck, and send contrast down to map the veins around and in the liver.  While in there, they will balloon her portal vein closed slowly while carefully checking to see that the blood is starting to flow as God intended to her liver.  The goal will be to balloon entirely closed and have good pressures in those veins.  This is be the tell all, as to whether she will be a candidate for the "fix".  She will be required to stay overnight in the hospital, and we will be discharged the next day.

I knew this day was coming.  I have had time to process this since this summer, yet I have had a very difficult week.  I haven't been sleeping thinking about the process and the what-ifs.  Those darn what-ifs get me every time.  Having a date set makes this all very real! This is a moment I have been concerned for since Macy was diagnosed at age 2.....and here it is.  I am holding on to my faith that God will put his guiding hands over the surgeons during those tests, and healing hands on Macy through those days.  I am praying for results that show a "fix" is the answer! 

Happy Life

We have been doing great lately!  Some things have definitely happened since our last post. 

In October, we headed to Florida to visit my parents and grandparents.  It was a wonderful week full of very special times.  My grandmother's ALS is progressing.  It was so wonderful for my grandparents and our girls to spend so much time together.  My girls loved hugging on Grandma, and they loved swimming with Grandpa.  When we left, McKenna cried and cried for Grandma Bettie.  She has since cried multiple times saying she misses her.  They sent us to Sea World as our early Christmas gift.  It was such a fabulous time!  I will cherish that time for the rest of my life!  Grandma was just moved into a nursing home yesterday.  So please pray for my grandparents, my parents, and my entire family.  It has been hard on everyone!  She is so amazingly tough!  That must be where Macy gets it!

 

 

 

About 4 weeks ago, we got a puppy.  At first I thought she was so adorable and sweet.  Now I am wondering what we were thinking!  Being that Tucker was 12 when he passed away, we forgot what a puppy was like.  Also, when Tucker was a puppy I had all the time in the world to work with him, give him attention, and train him.  I was on summer break at the time, and we didn't have the girls yet.  Our new dog, Penny, is adorable, but into EVERYTHING!  When we get home from work each day she runs around chewing on things, popping the heads off of our Christmas ornaments, and chasing the cats.  When she falls asleep each night we forget about her craziness and realize she is cute! 

 

Macy is doing pretty good getting used to her injections.  It is becoming second nature, although about 4-5 days a week she tells me she hates them as I am injecting her leg.  It makes me so sad!  We will head to Riley tomorrow to see our metabolism/genetics GENIUS of a doctor, and then head in 2 weeks to have a follow-up with our endocrinologist.  We are still waiting to hear back from the transplant clinic at Lurie Children's Hospital.  The only doctor that does the "fix" for Macy's liver was out on personal medical leave.  He should be back by now, but we haven't h
eard from them.  The plan is to visit them for our initial meeting, and initial testing in early 2016.  If Macy is a candidate, we will return 3 times for surgeries.

Macy's Wish for Make-a-Wish is still being worked on.  The Make-a-Wish Request-a-Thon is this week on Thursday and Friday.  They contacted us to see if Macy would be on the radio during the event.  She will be on there this Thursday (December 3rd) between 8 and 9 p.m.  This is such a cool experience for her!  We are so blessed!