Joslyn was a baby when doctors at Children’s Hospital of Philadelphia (CHOP) diagnosed her with Loeys-Dietz syndrome (LDS) — a genetic disease affecting the body’s connective tissue, including that of the heart. In addition to other associated conditions, such as orthopedic abnormalities and narrowing of the cervical spine, LDS patients are susceptible to aortic aneurysms (widening of the aorta) and subsequent dissection (tears), which can be life-threatening if not treated.

Followed by Hae-Rhi Lee, MD, at CHOP’s Specialty Care and Surgery Center in Voorhees, N.J., Joslyn was treated with blood pressure medication to slow the enlargement of her aorta and delay surgery until her heart could reach adult size. Shortly before Joslyn’s 11th birthday, however, imaging confirmed surgery was necessary in order to prevent aortic dissection. Though Joslyn and her parents knew she would need the aortic procedure eventually, Joslyn had undergone spinal surgery just one month before. Another operation was the last thing the family wanted.

Dr. Lee, however, knew it was time and knew Dr. Jonathan Chen, Chief of CHOP’s Division of Cardiothoracic Surgery, Co-Director of the Cardiac Center and Co-Director of the Topolewski Pediatric Heart Valve Center, was the right surgeon for the job. The family trusted her judgement.

“Anything Dr. Lee suggests, I know she’s put a lot of thought and research into it,” says Joslyn’s mom, Thao. “She takes really good care of Joslyn, and she understands what we’re going through. I don’t know how we would manage without her.”

A team approach

With Dr. Chen, Joslyn underwent a valve-sparing aortic root repair, in which the enlarged section of her aorta was replaced with an artificial tube. The surgery went well, and Joslyn recovered fast, able to return home sooner than expected.

At Joslyn’s post-surgical evaluation with Dr. Lee, however, the family received terrible news. Joslyn’s descending aorta — a lower portion of the artery — was enlarged and beginning to dissect. Dr. Chen confirmed Joslyn needed yet another surgery, and soon. Dr. Nimesh Desai, part of the Aortic Center at the Hospital of the University of Pennsylvania (HUP), also collaborated on Joslyn’s care.

Says Thao, “Between the pandemic and Joslyn’s health, there was constant bad news coming in. I couldn’t believe she had to have another surgery. It hit me really hard.”

Joslyn also took the news hard. Though she was able to celebrate her birthday at home with her family, she was admitted for surgery shortly afterwards, and would have to spend Halloween in the hospital.

Thankfully, a special gift on Halloween from CHOP’s Child Life team made this disappointment a bit easier to bear. Thao notes that the steady presence, input and advocacy of the Cardiac Intensive Care Unit nurses also left a big impression on Joslyn. “They would always stop by to talk to her, even during busy shifts,” Thao says. “She remembers all of their names. They made her life in the hospital a lot better.”

Ongoing care

As part of ongoing preventative care, Joslyn has regular follow-up visits with Dr. Desai in the Aortic Center at HUP and with Dr. Lee in the Voorhees Specialty Care Center. Although her abdominal aorta is already beginning to enlarge, Joslyn is being treated with medication in hopes that her body will be able to heal before yet another surgery.

In the meantime, Joslyn draws on her strength and maturity to remain positive about the future and the medical traumas she’s endured. “She has a lot of scars,” says Thao. “When I asked how she felt about them, she said, ‘I don’t mind them. It looks like I went through a battle, and I won. I survived.’”

In collaboration with HUP, the new Cardiovascular Connective Tissues Disorders Clinic at CHOP offers multidisciplinary care for patients like Joslyn. Led by Stacey Drant, MD, attending cardiologist in CHOP’s Cardiac Center, the clinic combines Cardiology and Genetic expertise, providing genetic testing and counseling, preventative lifestyle and medical therapy, as well as surgical treatment if necessary.