There is Always Hope: Abernathy Malformation

It’s extremely rare in children. It’s even more of an anomaly when an adult has it. Typically by the time you are a teen, you’ve become symptomatic and you’re about to have surgery. At that age, the chances of treatment being successful tends to be high. The older that you get, the harder it can be to treat it, but there is always hope.

There are many veins that connect to the liver. Lots of blood flows in and out of the liver all of the time. The liver is powerful at filtering toxins from our blood stream. It does so with the help of enzymes. The liver is an essential without question. So it’s understandable that if a liver is no good, it’s time for a new one. Enter the transplant. Because we just can’t live without it.

If you’ve ever eaten chopped liver before, and even if you haven’t, you know they tend to be the color of blood. This is no coincidence. While I have not eaten it before, I can’t forget the way they smell and that deep red color of blood that makes my stomach turn. Livers are full of blood. Blood is everything to the liver and the liver is everything to blood. There are two ways blood gets in and out of your liver. One is through the aorta which handles about 30% of blood traffic. Then there is the portal vein, which is further divided into the left and right portal vein as it branches throughout the liver into tiny “limbs”, much like a tree. The portal vein provides a pathway to 70% of the blood that the liver needs to filter. It’s pretty important.

What if one of those pathways takes a detour and instead of ushering blood into the liver, it goes around the liver and sends it back into your main blood system? What happens to all of those toxins? They circulate through your body, around your brain, through your heart, and everywhere else in between. If you are young, you will either get very sick and get treated quickly, or you’ll go undetected and asymptomatic because, as we all know, a young body tends to handle abuse a little better than an older one.

In fact, you can go decades without any problems. Your body will tolerate the higher levels of toxins for awhile, but at some point, it can’t do that anymore. You might develop cancerous masses on your liver or you may develop swelling in your legs, to name a couple. As ammonia builds up in your system, you might become more forgetful and feel like you can’t concentrate. You may suddenly develop ADHD as a result or depression.

This is called an Abernathy Malformation. It is a portosystemic venous shunt of the liver, or to keep it short, a liver shunt. It’s fairly common in canines, but less common in humans. You will find a lot of information on this in animals.

I am 34 years old and I was recently diagnosed with it as an incidental finding on a CT scan that initially appeared as a lesion, but upon further investigation with an MRI, it was determined to be a shunt. Mine is rather small, measuring at around 1.5 cm in length and in width. I am considered to be asymptomatic at the moment. My blood work looks great; I have yet to have my ammonia levels checked so this part remains to be seen.

This malformation is so rare that there is only one support group out there and in this group, there are only 96 members. Of those 96 members, only 4 of us are adults. The remaining are parents of children. This should give you a really good idea of the odds that I am up against right now.

So what are my options?

There appears to be only one doctor in the country that has the most experience with this. He’s even written for pubmed. He’s 13 hours away from me, up in Chicago, but according to the group, he’s worth the drive. To put things into greater perspective, as of 2019, the human being with the most experience with this thing, has only performed somewhere around 100 surgeries. My greatest chance for success rests in that. My husband says that is a way better number than three and I would have to agree, even though it still leaves me unsettled. He reasons that with the first one, you’re taking a shot in the dark. With the second you have learned from your first mistakes and are trying to fix them. By the third try, you are golden. This is a very simplified way of looking at it, but it holds some truth.

When I found out about my diagnosis, I spoke to two doctors locally and both of them said there was nothing to worry about; this was just a “normal” abnormality. I had been reading online however, and despite the fact that very little has been published on Abernathy Malformation, it is very clear that leaving it alone is becoming a less and less popular strategy. The doctor in Chicago seems to be at the forefront of this change.

When I stumbled across the group, I quickly began hearing his name everywhere. I scoured the internet for every piece of information I could find on this guy. That’s when I made a friend. One of the few adults in the group reached out to me. I had been driving myself nuts, to the point of tears, trying to understand something that was almost impossible to understand with such little published research. He offered me a lifeline; more like a landline.

I suddenly found myself with a screen shot of the direct line to this doctor’s admin team, right there on my phone screen. I stared at that number so long as if it were a piece of art. I wanted to burn it in my memory because it felt like the only piece of hope I had up until that point. My new friend told me that if I called their front desk they would deny me immediately because the hospital primarily treats children. If I called his admin team, however, I would get ear time almost immediately. He did not lie.

Within twenty four hours I had spoken to the doctor’s team twice and had mailed out all of my medical records and images by 4 o’clock that afternoon. Then I sat and waited. And I wanted some more. And I waited until I thought I was going to jump out of my skin. Until I got the call. I stared at my screen with the doctor’s name that popped up as the call came through. It was almost as exciting and surreal as getting a call from a president or maybe even Santa Claus. I was told that the doctor had reviewed my case and he wanted to see me. August 5th.

I wanted to jump through the roof with excitement, until I realized that August 5th was a ways off. I thank them profusely and as soon as I hung up the phone, all of those feelings took a dive. It was barely June. I did not know how I was going to make it through the summer with this cloud hanging over my head.

I have spent the better part of this summer learning everything that I can. It’s pretty clear to me that if the doctor does decide to treat me, they will likely attempt to close my shunt. If that is successful, I will leave Chicago with a bright future ahead of me. One in which I will likely get to grow old and see my children grow old. If they cannot close the shunt, I will be facing a liver transplant, at some point in my life.

It was in the middle of this research when I received a call from the friend that I had made in the group. He told me that he had been to Chicago and that the attempt to close his shunt had failed. He had cancer and he was being placed on a transplant wait list. Just as I was becoming hopeful, my heart was crushed. His shunt is similar to mine, only a couple of centimeters larger, but he is very symptomatic and his bloodwork is off. We are the same age.

At this point, I am not considered to have any masses. My liver functioning levels are great and so is my regular blood work. The only thing I have not been checked for is ammonia. If that remains low, I am hoping that this is a good sign a shunt closure will be successful, although I really do not know what is a good indicator of when it works and when it won’t.

I have looked into the prognosis for people who receive liver transplants and its pretty clear that a living donor is a much better option than a deceased one. The lifespan can be shorter for those with a deceased donor transplant, but not always. Some people do live very long lives. Some of the children in the group that I am part of have had transplants already and the parents were so happy about it. I want to take comfort in this, yet my mind is swirling with questions and fears. The thought that I could be the 25% that doesn’t make it to 70 or 80 crushes me.

I am the person who thinks way far ahead into the future. I blame it on my high IQ. I think through things very quickly and turn up options and possibilities at an above average speed. I have a problem. I tend to think of the things that no one else is thinking of and it drives me and everyone around me nuts. Most people seem content to exist on a surface level. I don’t seem to have that luxury. My brain won’t let me. Intelligence might make you good at some things, but sometimes I think it is a curse. It gets me into trouble in cases like this where I jump so far ahead when I don’t even need to and waste so much energy on things that don’t happen. Often times things turn out much better than anticipated and there was never a need for me to get so involved. The majority of the time I end up feeling dumb and exhausted. For this reason, most people do not take me seriously when I “cry wolf”, but that’s another subject for another day.

My aunt has stage three ovarian cancer. That came out of nowhere. It shook me up. I have seen how the worst case scenario sometimes just happens. But I choose to believe that there is always hope, even with stage three ovarian cancer, partly because it’s true and also because I feel like in life we have no other choice but hold onto hope or to spiral into a hysterical, blubbering mess of tears and never be able to function again. I tell my aunt all the time that every year they come up with new approaches to treat this cancer and we just need to keep trying everything because it buys us time until we find the thing that’s going to kick this monster right in the teeth. So we try all of the things the doctor advises and we watch her numbers improve significantly. Then with time, we see those same numbers come back up and we switch treatment plans. A new treatment plan drops those numbers back down again and we ride that wave. With every treatment we buy her more and more time and we keep our fingers crossed that something comes up. Somehow, there is always hope.

I have three children that I intend to watch them all grow up. I will be a grandmother some day if I’m so lucky. Right now my home is filled with the sound of little feet running to and fro, laughter, and skinned-knee tears. My refrigerator has paintings of handprints and my kitchen wall has their heights perfectly marked each year. Tiny foot prints stain my hardwood floor when the sunlight hits it just so and little fingerprints cover my refrigerator door handles, and I complain that I have to wipe them down again. At some point I know this will fade. The laundry baskets that once swelled and overflowed will shrink. The shoes at my front door will be bigger and harder to push aside. My hectic and unplanned meals for five will whittle down to a meal for two. I will read a book and finish it and remember what coffee is like when its hot. And just as I am settling into a new normal, a burst of sunshine will explode into my life again. I won’t be expecting it. My grandchildren will smile and for brief moments of time, I will receive the gift of going back in time. I will be this age again listening to them run through my house, bringing it back to life and making my back hurt all at once. I know that there will be nothing in the world like that and I plan to be there for all of that, whether it is with my liver or the gift of someone else’s. There is always hope.