Hello, my name is Heather Gray and I live in Lowell, Michigan. I am an adult with Alagille Syndrome. I also have two biological daughters, Rebecca (17) and Natalie (11), who inherited Alagille Syndrome from me.
I was diagnosed with Alagille Syndrome de novo in 1973 at Riley Children’s Hospital in Indianapolis, Indiana, by Dr. Joseph Fitzgerald, one of the early pioneers of cholestatic diseases. About a week after I was born, it was pretty clear something was wrong. I had become very jaundice and my labs showed elevated liver enzymes. Initially it was suspected that I had either Rubella or Biliary Atresia, but both were later ruled out. I was diagnosed with Alagille Syndrome at about two months old. As an infant and young child, my parents made periodic visits to Riley Children’s Hospital, which was a 4-hour drive from our home at the time. Since Riley was part of the Indiana University Health System — and Alagille Syndrome was still relatively unknown then — appointments were long ordeals where I met with the doctors and their entourage of medical residents.
Things stabilized when I was about 10 years old and remained stable well into adulthood. I saw a gastroenterologist once a year, and an adult congenital cardiologist every 4 years in Grand Rapids, Michigan. In 2013, I went into acute liver failure. In a span of 8 weeks, I went from being stable to being at the top of the liver transplant wait list. I had a liver transplant at the University of Michigan and they now handle all my liver, heart, and kidney care. I go once a year for liver and heart follow up. Before my liver transplant, I had jaundice, intense pruritis, pulmonary stenosis, retinal anomalies, and small kidneys. After my liver transplant, the jaundice and pruritis were gone. It’s likely I will also have a kidney transplant in my lifetime. While I never had kidney issues growing up, the combination of liver failure and post-transplant immunosuppressant medication damaged my kidneys beyond repair. My kidneys currently function at about 20% capacity. When they reach 15% capacity, I’ll be eligible to have a transplant.
My daughters both have extremely mild Alagille Syndrome. Neither have had any jaundice or pruritis. Rebecca has mild pulmonary stenosis. Natalie was born with total anomalous pulmonary venous return (TAPVR), which was corrected via open heart surgery when she was an infant.
I’m sure that it was very difficult for my parents to see me struggle as a young child, especially in the early 1970’s when so little was known about Alagille Syndrome. Without a doubt, the biggest burden of Alagille Syndrome for me was the intense itching. Having a liver transplant was transformational, though the recovery was long and difficult. For the first time in 40 years, my pruritis was gone! Living with Alagille Syndrome has made me a stronger, more resilient person — someone who can roll with the punches in life.
The ALGSA community is a godsend for families affected by Alagille Syndrome. It’s an amazing resource to connect with other families who understand the nuances of Alagille Syndrome. My advice to newly diagnosed families is to find a care team that has experience and knowledge of Alagille Syndrome.
My hope for the future: I sent my oldest daughter to college for nursing this past fall, and I look forward to Rebecca’s senior year and sending her to college in 2023. I’ve always wanted to visit Japan and hope to make that a reality someday.