Seeing Lucy Wiese’s sweet smile and bright blue eyes light up the month of September in our hospital calendar you might never know the day she’d had. When the photo was taken she’d just come from multiple medical appointments, including a dental visit that turned out to be longer and more complex than expected, but Lucy jumped right in and got the job done. She quickly changed her outfit, agreed to wear a chef’s hat to illustrate the month’s theme, and readily shared her easy smile with the photographer and crew.
“She’s been through a lot but she still finds the bright side in everything,” Jan Wiese says of the kind, cheerful attitude her daughter brought us that day and is known for in life.
Lucy, now 10, has a very unique, complex medical condition and has faced many difficult treatments and painful complications throughout her life. Two years ago, she underwent an experimental bone marrow transplant which has helped significantly. Still, a large team of doctors – that at times includes up to 15 of our specialists – monitors her health very closely. “Only about 12 people with her disease have had bone marrow transplants in the world,” Jan remarks. “Doctors really don’t know what to expect for her as she grows. Her team is very careful with her, and I appreciate how careful they are as it is so hard to predict.”
One in a million
Lucy was born at VCU Medical Center and spent her first year of life receiving well checks from CHoR pediatricians. At birth she’d had a unique freckle-like rash covering her body and some confusing medical problems – including additional rashes and skin infections – arose her first year of life.
Their family moved when Lucy was one, eventually settling in the D.C. area. Over the next four years she continued to have a variety of health issues, ranging from minor problems to life-threatening lung infections and other painful slow-healing rashes and infections. Her parents were in the process of searching for answers when Lucy, nearly 3 at the time, developed a mouth infection that was so painful she couldn’t swallow her own saliva. When Lucy returned to the hospital within weeks with the same condition, the chief of pediatric infectious diseases where she was being treated connected the Wieses with a colleague at the National Institutes of Health in Bethesda, Maryland.
Following genetic testing, Lucy was diagnosed with a rare immune-system deficiency called Hyper IgE syndrome, or Job’s syndrome. This disorder both overstimulates and under stimulates the immune system. It affects multiple systems in the body and leads to what Jan describes as a “constellation of symptoms.” Severe lung and skin infections associated with poor healing are a major issue, as are skeletal problems like frequent bone fractures, joint weakness, pain and movement problems, and scoliosis. Dental problems are also a concern.
Job’s syndrome is caused by a genetic mutation. While antibiotics and other medications can help with infections, the condition itself cannot be cured. It is estimated to affect roughly one person in a million, according to Washington Post article about Lucy, who is part of a long-term NIH study being conducted for this rare disorder.
Experimental surgery, collaborative care
Lucy’s family moved to back to Richmond when Lucy was 5. Before the move, Lucy’s doctors from the D.C. area contacted several specialists at CHoR to go over her medical history to ensure a smooth continuation of care. “Her care has been very complex and often without precedent,” Jan remarks.
Her doctors at the NIH remain actively involved. An allergy and infectious disease specialist there suggested the experimental bone-marrow transplant treatment after Lucy experienced a life-threatening lung infection when she was 4 followed by severe recurring lung infections. (Lucy was hospitalized at CHoR several times for lung issues during her first two years back in Richmond.) Though not a cure, it had the potential to reduce the lung problems that continued to threaten her life.
The first of three NIH patients with Job’s syndrome to undergo the transplant, Lucy returned to Bethesda for the tough, often-painful procedure when she was 7. She spent the next six months (including her birthday) undergoing treatments or hospitalized. During that time, her right lung collapsed due to pneumonia and had to be removed.
The year that followed was especially difficult. Lucy was hospitalized again just three months after returning home. She came to our emergency room with double pneumonia that rapidly progressed to acute respiratory distress. She was moved to the pediatric intensive care unit and put into a medically induced coma and on a ventilator in an attempt to save her life. Her stay lasted two months and our doctors collaborated with the NIH team throughout. “Her care was extremely complex and involved and the PICU team as well as the consulting specialists worked tirelessly to help her recover,” Jan says. “The CHoR team was compassionate and patient and always made sure we understood what was going on and were involved in her care.”
No hospital stays in past year
Jan estimates Lucy spent about a full year of the first eight years of her life hospitalized. Since the transplant, however, her lungs issues have lessened and she’s had no skin infections. “Lucy hasn’t been hospitalized in over a year,” Jan shares with tentative relief, “which is really good progress.”
Lucy comes to CHoR nearly every week for appointments. Her team includes specialists in infectious diseases, dermatology, pulmonary care and gastroenterology, among other areas. We are the only facility in the region to offer this level of specialized care in one place. Her doctors are able to coordinate her care, minimize repetitive procedures (like blood draws just once a month) and address immediate needs. “Just a few months ago at a routine hematology/oncology visit, we discovered she had a broken wrist,” Jan recalls. “Lucy was able to see her orthopedic surgeon and have her wrist splinted before we even left the building.”
Lucy says she doesn’t mind coming to the Children’s Pavilion and always finds something to look forward to. Playing in the outdoor Sky Garden is a favorite. “They think of everything in making a child feel comfortable when they’re waiting or when they have to have something difficult done,” Jan says of the care she’s witnessed at CHoR. “The place as a whole, and the atmosphere being so kid friendly, demystifies the medical experience. It helps kids have ownership that it’s a place for them which helps them feel good about coming.”
We think she’s amazing
Lucy loves drawing, reading, make-believe play and ice cream. Recently, she’s started learning to play the piano. In many ways, she’s a typical, fun-loving 10-year-old, but with so many appointments and hospitalizations attending school hasn’t been an option for her. She’s been homeschooled all her life, but Jan and her husband Scott hope this won’t be the case much longer.
With a continued careful approach, Lucy’s CHoR team will be by her side to help her reach this important goal. Her find-the-bright-side attitude is just what they’d prescribe for this next big step – and for the many new experiences to come as Lucy’s health progresses. “For all that she’s been through, Lucy is always so sweet and pleasant and full of grace,” orthopaedic surgeon Dr. Victoria Kuester says about Lucy’s inspiring attitude.
Dr. Kuester treated Lucy for multiple fractures in the past year. At one point, Lucy had fractures in both arms. Already a fan, Dr. Kuester says she was once again impressed by how Lucy handled the situation, characteristically more pleasant than angry or upset. “When something else gets difficult she just keeps on going with a good attitude. Lucy really is amazing.”