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.
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
No comments:
Post a Comment