Her Stories: When Rare Disease Day Becomes Personal

WASHINGTON, DC–They are the words no parents want to ever say: “Please don’t let my baby need a liver transplant!” I couldn’t believe that sentence was even coming out of my mouth. I was a first-time mom of an 8-week-old bundle of joy. Bella was the culmination of our greatest dream – to become parents – and my husband and I were still very much celebrating her arrival. But my mother’s intuition kicked in quickly the first time I noticed the whites of her eyes looking yellow. It didn’t look right but by the time my husband got home from work that night, her eyes looked normal again.

The color came and went over the next two weeks so it was hard to get doctors to take us seriously but we finally got a blood test ordered after pushing repeatedly for it. When the results came back, we knew right away – by the panicked look on the doctor’s face – that something was terribly wrong. He talked of jaundice, elevated liver enzymes and a condition called Biliary Atresia (BA), but told us not to research it until more tests had been done. As a new mom and a long-time reporter I, of course, disregarded his advice and immediately wished I hadn’t.

It only took a few clicks on Google to learn that one in every 10,000 to 15,000 children born in the U.S has this rare liver disease, the cause of which is unknown. These children have bile ducts that don’t drain properly so the disease presents in the first few weeks of a baby’s life as bile builds up in the liver, causing eyes and skin to look yellow or green. An initial surgery called the Kasai can fix the problem but it doesn’t work for all children, many of whom end up with liver failure and need a liver transplant before the age of two. This disease is the number one reason children need liver transplants.

Our daughter was admitted to the hospital and tests results confirmed BA. The disease is so rare, there was a steady stream of wide-eyed doctors and medical students in and out of her room intrigued to see a condition they’d only read about in textbooks. Bella was rushed into surgery and we knew within weeks it hadn’t worked. Her stools were white because bile couldn’t get out of her quickly deteriorating liver. When we went for our first consult with transplant surgeons, Bella was four months old. They said she wouldn’t live to see her first birthday without a new liver and recommended a transplant within the next two months.

We knew she was sick but were stunned how quickly we needed to act. You adapt quickly, though, when your child’s life hangs in the balance. We put our daughter’s name on the national organ transplant waiting list and did our best to take care of her as her health started to go downhill fast. Her liver grew hard; she developed cirrhosis and her skin and eyes turned from yellow to green as bile kept building up inside her. She had difficulty breathing and could only eat an ounce at a time because her belly became so bloated from fluid.

She spent more time in the hospital than out dealing with infections and complications and my husband and I started telling time not by the clock but by doctors’ rounds. I got used to sleeping most nights in a cramped armchair by her hospital crib because I didn’t want to take my eyes off of her. We also needed to ensure my husband got some rest at home so he could keep going to work – which was vital since that is what provided our much needed health insurance.

Most of the time we were on autopilot, living with a certain level of fear, shock and exhaustion that would spike even higher when she got a fever or was so sick doctors couldn’t find a vein strong enough for a blood draw or IV. There were overwhelming moments of sadness too. Like when a hospital social worker handed us a Make-A-Wish brochure and cheerfully announced that transplant children now qualified. It didn’t feel like something to celebrate.

Running errands also became an emotional battlefield. We would take turns going out for groceries or baby supplies on weekends while the other stayed home with Bella, who was too sick to leave the house. And too many times to count, we ended up leaving full carts in the aisles either because we got a call that she had spiked a fever and we had to rush back to the ER or because it just became too overwhelming to see other families pushing chubby, healthy looking babies around in their carts. It felt so unfair when our child was fighting for her life.

Children can get a new liver in two ways: One is when they are so sick that they are next in line on the transplant list to receive a cadaver organ donated by a family when their child dies. The other is from a living donor. Since livers regenerate, adults can give a portion of their liver, which grows back in a few months for them and grows into a full size organ over time for the recipient.

As our daughter got sicker, her incredible aunt – my amazing sister – stepped forward to save her life. Blood work and a battery of tests proved she was a perfect match. Bella got her transplant when she was six months old. The surgery lasted 12 hours and the first moment we saw her in the NICU afterwards, we knew it had worked. She was attached to what seemed like a million tubes, but with a new liver, her skin had already turned pink and her belly was already flat.

She spent 15 days in the hospital, much of it in pain, with giant staples holding together the enormous ‘Y’ shaped incision that dwarfed her now little belly. But once out of the NICU, she started to eat and smile more and more. Despite our elation at Bella’s improving health, my sister suffered irreversible complications during her surgery, which left her with stomach problems and nerve pain and that has been heartbreaking. And when the hospital staff handed my husband and me a three-inch binder full of information about how to keep our daughter safe with her new organ, we wondered how we would ever do it.

It wasn’t easy but we figured it out. And while it might not seem normal to anyone else, life is so very good for our daughter and our family now. Bella will take daily immunosuppression medicine for the rest of her life. It suppresses her immune system to keep her body from rejecting her donated organ and that puts her more at risk for catching germs and illnesses, which can make us complicated during flu season. She can’t get live vaccines to protect against measles and chicken pox either and that is scary as the anti-vaccination movement grows. She gets monthly blood draws and yearly transplant check ups too since the medicine is hard on her kidneys and also has triggered anaphylactic food allergies.

But six years later, she is flourishing. She is a happy kindergartener who runs and swims so fast we can’t keep up with her. She loves to travel, is doing well in school and is now the proudest big sister you have ever seen. We are so incredibly lucky. Not all children get the life saving transplant they need. We have seen several die these last few years either because they couldn’t find a living donor match or their number on the waiting list didn’t get called in time.

An experience like this really puts everything into perspective and it has left us so incredibly grateful for the miracle we have witnessed firsthand and every single moment we get with our amazing daughter thanks to my brave sister. So in the run up to Rare Disease Day (February 28), I would like to say to any parents just learning their child needs a transplant – I am so sorry. The journey will be hard. But that thing you first fear will end up being such a gift. They don’t call it the Gift of Life for nothing.

To everyone else – please register to be an organ donor. You never know whose child you could be saving.

Jennifer Davis is a freelance reporter, producer and writer based in Washington, D.C. and her work appears in print, online and on television. @JenniferDavisDC

Photos courtesy Jennifer Davis: 1) Bella with her aunt  2) Bella before surgery, 3) Bella with her parents post-surgery


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