Interstitial Lung Disease and Lung Transplant: Sofia and Stefani’s Story

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Sofia was diagnosed with a critical lung condition when she was 8, and her twin sister, Stefani, was found to have the same condition two years later. Both have received lung transplants and are enjoying the return of their health and energy.

Sofia and Stefani Sofia and Stefani are identical twins. They look enough alike that they have fooled teachers into thinking one was the other when they were younger. They also share the experience of being diagnosed with lung disease — and having their lives saved by lung transplant at Children’s Hospital of Philadelphia (CHOP).

A persistent cough

Both girls were healthy babies and preschoolers. They hardly ever got sick. Then, when Sofia was 5, she came down with a cough along with fever and congestion. Her pediatrician in northern New Jersey diagnosed her with pneumonia. Antibiotics brought down her fever and cleared up the congestion, but didn’t help the cough.

A referral to a local pulmonologist led to a diagnosis of asthma, but six months of treatment with an inhaler did nothing to the cough. Sofia’s health grew worse. She became winded easily, and she stopped growing. She had always been the same size as Stefani, but at 8 years old, Sofia weighed just 40 pounds, 10 pounds less than her identical twin.

A CT scan showed abnormalities in Sofia’s lungs, and a biopsy led to a diagnosis of children’s interstitial and diffuse lung disease (chILD) — a broad term for a wide range of disorders that cause scarring in the lungs. As the scarring builds, children with chILD lose their ability to breathe and to oxygenate their blood. The scarring is not reversible, so when it becomes severe enough, a lung transplant is needed.

Treatment at CHOP

Sofia was referred to the Children’s Interstitial and Diffuse Lung Disease Center at Children’s Hospital of Philadelphia (CHOP). There, she came under the care of Samuel Goldfarb, MD, a pediatric pulmonologist and Medical Director of CHOP’s Lung Transplant Program and Heart/Lung Transplant Program.

The medical team at CHOP conducted additional tests, but identifying the cause of Sofia’s condition was challenging. Earlier tests had suggested it was an immunologic disorder, and Sofia had started on a high-dose treatment of steroids before coming to CHOP. These were no longer working to improve her breathing, so the team tried other combinations of medications. When none of these slowed the progress of her disease, she was put on the list for a lung transplant.

A second diagnosis

As a precaution, the medical team asked to test Stefani for the condition, even though she showed no signs of illness. A chest CT scan revealed signs of chILD in Stefani’s lungs, and a lung biopsy confirmed the diagnosis. Stefani’s diagnosis was a shock to the family, and she was also put on the list for a transplant.

That fall, when the girls started school, both were using oxygen tanks. Sofia was in a wheelchair — her energy level was so low that she couldn’t walk. Even eating tired her out. By December, Stefani couldn’t even attend school. She spent the rest of that year and all of the next year being homeschooled.

Successful lung transplants

The family’s first breakthrough came on Easter Sunday, 2016, when they got the call that a donor lung had been identified for Sofia. They made the drive into Philadelphia, and the procedure was done that day. Before the operation, Stephani had a FaceTime conversation with Sofia’s surgeon, Stephanie Fuller, MD, who remembers the call with a laugh. “She said to me, ‘You better take good care of my sister!’ I had my marching orders, for sure.”

Dr. Fuller did take good care of Sofia. The surgery was successful, and Sofia was breathing without an oxygen tank two days later — for the first time in four years.

The family stayed at the Gift of Life Family House for the surgery and Sofia’s recovery, a “home away from home” for the families of transplant patients. While Sofia got better, Stefani took a turn for the worse, and for a week, Sofia did her physical therapy at the Gift of Life Family House while Stefani was treated at CHOP.

Stefani’s turn came a year later, in April 2017, when a donor lung was identified. For this second trip into Philadelphia, the family had one less worry. A year after her transplant, Sofia was doing wonderfully.

“Walk, run and scream”

Like Sofia, Stefani recovered quickly from the surgery. Both girls had received full bilateral lung transplants, which can be difficult to recover from. But both applied themselves to the physical therapy and were soon ahead of where they had been before the surgery.

A year after her surgery, when Sofia was asked what she could do then that she couldn’t have done before the transplant, she answered, “Walk, run and scream!” Now, she loves to bounce on the trampoline. When her older brother bounces with her, sending her soaring, she does plenty of screaming. “Happy and scared screams,” she explains.

Sofia and Stefani with their mom Her mother, Elsy, loves the sound. It might be noisy to some parents, but it is wonderful to her. “She’s another child now. She was the child in the wheelchair with oxygen before.” Stefani will be out there with her before long.

While Sofia and Stefani are identical twins, and now share the experience of bilateral lung transplants, they have unique personalities. Stephanie loves math, while Sofia has a passion for art, especially drawing. Sofia was happy to return to school and join her friends this past year. Stefani will be happy to join her in the coming school year.

“We are so blessed”

Their parents are amazed at their good fortune in having two heathy daughters again, and grateful to the medical team at CHOP for making that happen. “Dr. Goldfarb is one of a kind,” says Elsy. “We can’t thank him enough. He was always so kind to us, and so good with the girls."

The entire medical team was wonderful. They are the best. I called so many times with questions, sometimes the same questions over and over, and they always helped. If not for Children’s Hospital of Philadelphia, I don’t know where we would be. We are so blessed.

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