When the doctor entered the room saying he had a diagnosis for baby Evelyn’s condition and more doctors kept filing in after him, Megan and Dylan knew the news probably wasn’t good. 

Evelyn had been born about two months before after a healthy pregnancy, but even though she ate voraciously, she struggled to gain weight. After those two months, she only was about 2 pounds over her birth weight. 

Doctors at Golisano Children’s Hospital of Southwest Florida in Fort Myers, Florida, conducted test after test before they finally found an answer. 

With Megan and Dylan sitting down, the doctor delivered the news: Evelyn had Wolman disease. She likely would live only six months to a year. 

“We were in shock,” Megan says. “My husband asked for us to be alone, and we bawled our eyes out. Then we called all our friends and asked them to come and pray.” 

A Rare Diagnosis 

Wolman disease is an ultra-rare and likely under-diagnosed genetic condition. A little over 50 cases have been described so far. Most doctors have never seen a case.

Megan and Dylan were fortunate that Golisano had an experienced geneticist on staff who could diagnosis it, but Evelyn’s case required ongoing biochemical expertise and the geneticist recommended Evelyn’s transfer to Johns Hopkins All Children’s Hospital in St. Petersburg. 

Infants with Wolman disease lack enzyme activity that the body needs to process fats — lipids — correctly and those fats and cholesterol build up in the baby’s organs, leading to organ failure. Historically, babies with Wolman die before their first birthday, often as early as 3 months. 

Alexander Y. Kim, M.D., came to Johns Hopkins All Children’s in 2021 to build the metabolic genetics program after completing pediatrics training at Johns Hopkins All Children’s and then both medical genetics and medical biochemical genetics training at The Johns Hopkins Hospital in Baltimore. Metabolic genetics is a medical subspecialty that focuses on the diagnosis and treatment of inherited metabolic disorders, also called “inborn errors of metabolism.” Metabolism refers to all the chemical reactions that take place in the body to break down food, make proteins and other molecules, and remove waste. 

“We really believe that it's a miracle that we got transferred up here,” Megan says. “We have Dr. Kim. He is fantastic. And he's been a godsend, just really wanting to help our daughter and do as much as he possibly can to prolong her life as long as we possibly can. He's done an excellent job and has a whole team of people here. There are around 50 different teams that are on her case working to help prolong her life.” 

Wolman disease occurs when the baby inherits from each parent a pathogenic gene variant — a mutation — that causes the disease.

Evelyn’s poor weight gain was among the symptoms common to Wolman disease. Others, include diarrhea, enlarged liver and spleen, jaundice and low muscle tone. But Wolman disease is difficult to diagnose because some of those conditions may be present in many infants for other reasons. Genetic and enzyme activity testing identified Wolman disease as the cause. After transfer, additional blood tests indicated a high ferritin level, eventually leading to the diagnosis of a life-threatening complication called hemophagocytic lymphohistiocytosis. 

Game-changer 

Kim never had encountered Wolman disease before, but because all metabolic genetic conditions are so rare, he says biochemical specialists frequently have to quickly make themselves experts in what their patients have.

He had studied conditions like Wolman disease for his medical board examinations and knew there were some newly approved enzyme replacement therapies that had shown some promise, along with some innovative nutritional approaches. Soon, he was consulting with the world’s leading experts in Manchester, England. 

“In 2015, the Food and Drug Administration approved an enzyme replacement therapy that was a real game-changer,” Kim says. “If a person has an enzyme deficiency because of a genetic condition, enzyme replacement therapy is designed to give back the enzyme activity they don’t have.” 

It is important for the enzyme replacement therapy to start early in the child’s life, and some children who have gotten the treatment are living five or more years after their treatment began.

Evelyn responded well to her initial treatments, which are given as an intravenous (IV) infusion over several hours. 

“After the first or second infusion, we really started to see her change,” Megan says. “She had more energy, and her bloodwork went from super outrageous numbers the first week that we got here to it dropping her ferritin levels.” 

Another Setback 

After initial success, Evelyn’s body developed a hypersensitivity and began to reject the infusions. She developed swelling and hives all over her body. 

Kim read medical literature and worked feverously with Johns Hopkins All Children’s allergy and immunology experts, pharmacists, and other specialists to create a complex mathematical protocol that would teach Evelyn’s body to accept the infusions and could be adjusted as needed. 

Recently, they achieved repeated successes and Evelyn should be able to go home this month. She will need to return to Johns Hopkins All Children’s main campus for infusions each week for the foreseeable future. 

Evelyn’s Future 

Along with her enzyme replacement therapy, Evelyn takes a customized formula developed in conjunction with Johns Hopkins All Children’s nutrition experts. She has made great progress. 

“She's a totally different baby than when we got here,” Megan says. “She's growing and super happy, smiling all the time. She's got little chunky cheeks and a double chin.” 

“We are forever grateful for Dr. Kim and his willingness to take on her case. We've just taken every day as a blessing. It's another day that we have with our daughter. A lot of people take it for granted, but we are realizing that it's a blessing. Each and every day is a gift.” 

Dylan expresses similar sentiment: “She has showed us how we should all live our lives. When we are stuck with great adversity and trials, we should stay content and just keep smiling! She is the proof that live is a real gift.” 

Kim knows Evelyn has a challenging road ahead, but like her parents, he is optimistic. 

“As genetic technologies evolve, people are not just working on enzyme replacement therapies, but eventually gene therapies,” he says. “That would be a definitive cure if we could correct her genetic defect, so there’s lots of hope on the horizon.” 

Megan and Dylan are grateful to all of the nurses, specialists, pharmacists, nutritionists and others who helped Evelyn get this far. Kim echoes their sentiments. 

“Through everybody’s hard work and dedication, not only has she made it to 3 months, but she made it to 4 months and now 5 months,” he says. “My hope is to be able to celebrate her first birthday and many more.” 

Epilogue

In May, 2023, Evelyn and her family celebrated her first birthday with Kim and his team.