When Beth Jones* gave birth to her first child in 2013, she and her husband felt blessed with a miracle. Beth had two miscarriages before delivering Emma, who was born at term weighing nearly 10 pounds. Their newborn seemed healthy in every regard.
What a difference a few days made. By the time Emma was 5 days old, her skin had turned orange, and her parents began to suspect that this was no routine case of infant jaundice — a condition that often disappears quickly as the newborn’s liver matures.
It took six months — and many hospital visits, inconclusive tests and finally a visit to a special clinic in Pennsylvania Dutch Country — before the Joneses learned that Emma had Crigler-Najjar syndrome – Type 1 (CN), a rare, life-threatening genetic condition that affects the liver.
CN is characterized by high levels of bilirubin in the blood and can lead to brain damage (known as kernicterus), hearing loss, developmental problems and other issues. It’s mostly managed with the same kind of light therapy (or phototherapy) that’s often used to treat infant jaundice. But the only existing cure for CN is a liver transplant, which Emma successfully received when she was just 3 years old.
While the transplant enables Emma to function without the use of phototherapy and without the fear of death from toxic unconjugated bilirubin levels, she still has the gene mutation that caused her CN and could pass the abnormality on to her children.
Nothing was Easy
Even before the diagnosis, Emma’s doctors insisted that she be treated with phototherapy lights. Yet, the hospital wouldn’t issue the family a set of lights for home use, citing liability concerns. The family checked with medical-device companies, but again came up empty-handed.
That meant the Joneses had to return to the hospital nearly every two weeks so that Emma could sleep under phototherapy lights. Beth often spent two weeks at a time in the hospital with Emma — where the difficulty of getting a baby to sleep under bright lights was compounded by frequent interruptions from doctors, medical residents and others. Beth calls this episode one of the most frustrating aspects of her daughter’s medical journey.
“I was so depressed,” she recalls. “I didn’t want to get up [in the morning]. I couldn’t take care of [Emma]. My hair was falling out. It was terrible because nobody could tell me what was wrong with my baby.”
Doctors ran a battery of tests, at one point even testing Emma for Syphilis, a sexually transmitted disease. “I thought it was absolutely ridiculous, but that just tells you we were out of options,” said Beth.
HELP AND HOPE IN AN UNEXPECTED PLACE
When Emma was 6 months old, her mother — with the help of a patient advocate at the hospital that initially treated Emma — found the Clinic for Special Children in Lancaster County, PA.
A medical home for children with rare genetic diseases, the nonprofit clinic began as a partnership between Dr. Holmes Morton (a Harvard-trained pediatrician), his wife Caroline and the Amish and Mennonite communities they served. Although CN affects an estimated one in a million children, the rare genetic disorder is more prevalent in the tight-knit Mennonite and Amish communities.
At the Clinic for Special Children, Emma finally received a diagnosis of CN and was treated by a doctor who helped her parents manage the condition through a routine of light exposure (phototherapy and natural light) and bloodwork and some dietary changes.
Emma’s doctor at the clinic also gave the Joneses hope that their daughter would pull through. According to Beth, he said that Emma would likely need a liver transplant at some point, but that the survival rate for CN liver-transplant patients was very high, thanks in part to advances in immunosuppressant drugs.
“He told me she was going to make it,” recalls Beth, her voice cracking. “The others didn’t know what was wrong with her. At one point, I was told she was going to live for three months unless we did a transplant immediately.”
In Lancaster County, the Joneses also met Mennonites whose children were affected by CN. They included a dairy farmer who years earlier had built a set of phototherapy lights for his children and went on to produce sets for many other families.
He gave the Joneses a set of lights that they placed over Emma’s crib at home, freeing them from the need to return to the hospital again and again for costly sleepovers. The home lights weren’t a perfect solution. As Emma grew out of infancy, she began to resist the lights. So her parents stayed awake many nights to ensure she stayed under them.
Beth is grateful to the Lancaster farmer. She took comfort in meeting his two grown children, who had both had liver transplants and appeared to be living normal lives. “It was reassuring to see adults who had made it. We’re still friends [with the family]. We visit them every summer now,” she said.
While the Joneses found much-needed help and support in an unexpected place, a lot has changed since they were first dealing with CN. More information about the condition is available online, there are some promising clinical trials for new treatments, and support groups have formed online.
A WRENCHING CHOICE
At the time of Emma’s transplant, Beth wished she had more treatment options, but ultimately decided that a transplant was the right decision for Emma and the rest of the family. Emma’s long struggle with CN had taken its toll on both her parents.
“For a small child, I could only do a treatment that we knew would solve all of her symptoms,” said Beth, reflecting on the difficult decision to opt for a transplant. The transplant had risks and lasting consequences, “but compared to the life under the lights, I will take the transplant any day, and I think Emma would too,” said Beth.
Today, Emma is a healthy, precocious 5-year-old who loves school (having managed to start kindergarten on time) and adores her younger sister — who was born while Emma was awaiting a new liver and does not have CN. Emma received a liver from a deceased child.
A NEW NORMAL, YET MEDICAL LIFE
Beth still has daily worries about her oldest daughter, but life has improved for the entire family since Emma’s transplant. “Our life has improved tremendously, but it’s still a medical life,” she said.
Emma still sees specialists and gets bloodwork done on a regular basis. She continues to take immunosuppressants, which have side effects. “I’m constantly worrying about people not vaccinating their kids, or themselves,” Beth explained. “I have this immunosuppressed child who goes to public school and other public places.”
A LITTLE REGRET AND A LOT OF GRATITUDE
Looking back, Beth wishes she’d been able to see beyond Emma’s condition and to enjoy the milestones and tenderness of the early years. She says she rarely allowed herself to hold her sleeping baby for fear of taking her out of the lights.
“You look into those yellow eyes and all you see is liver. But she was healthy otherwise. She was developing well. There were so many milestones that just flew by me,” Beth recalls.
Beth is encouraged that in the future other families might have an easier journey. Transplants are currently the best solution, but far from ideal. Today, there are gene therapy studies underway that may transform how we treat CN. There is reason for hope.
Beth is now making up for lost time (and sleep) and is deeply grateful that she was able to access care that may have saved her daughter’s life. In some other parts of the world, many children affected with CN aren’t as fortunate, said Beth, who’s also instilling a sense of gratitude in her daughters.
“I tell Emma that she’s living for two children,” she said.
*Real names have not been used in this article to protect healthcare information.
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