Thoracic Insufficiency Syndrome: Arwa's Story

By age 15, the question was whether her heart or lungs would fail first. She began to tire more easily and sleep more often. She stopped hanging out with friends and became too sick to go to school.

As Arwa’s condition deteriorated, her family sought help from doctor after doctor in Saudi Arabia, where they lived. Doctors could see that her lung deficiency was making her heart work harder — and vice versa — but could not agree on the best approach to treat her complex, multisystem medical issues.

One thing was certain: If Arwa didn’t get help soon, she would die.

Finding the right experts

Arwa’s parents, Mubarak and Khairiah Alqahtani, searched the Internet for a place that could help.

They found Children’s Hospital of Philadelphia (CHOP). As the United States’ first pediatric hospital, CHOP has a long history of pioneering care for children. The hospital has been recognized for its expertise in all pediatric specialties — including orthopaedics, cardiology and pulmonology, which Arwa desperately needed.

CHOP also had the Wyss/Campbell Center for Thoracic Insufficiency Syndrome.

With the help of the government of Saudi Arabia and International Patient Services at CHOP, Arwa and her family joined thousands of other international patients who have turned to Children’s Hospital of Philadelphia for care.

“We came here to save Arwa’s life,” says her father.

Coming to America

Arwa and her family arrived in the United States in August 2015. Within days, 18-year-old Arwa was at CHOP to begin the battery of diagnostic tests that would help her multidisciplinary care team create the best treatment plan to address her unique condition.

To help Arwa’s family and CHOP staff members communicate with each other, two medical interpreters were provided to the family: An Arabic interpreter worked with Arwa’s parents, and a sign language interpreter helped Arwa, who is deaf, understand what was being said around her.

Testing at CHOP confirmed what Arwa’s doctors in Saudi Arabia had found: She had congenital scoliosis, thoracic insufficiency syndrome, Ebstein’s anomaly of the tricuspid valve and hearing loss.

But CHOP doctors also discovered another genetic condition, CHARGE syndrome. Children with CHARGE syndrome have a distinct pattern of features that include heart anomalies, breathing difficulties, hearing loss, and delays in growth and development.

With a better understanding of Arwa’s health, doctors agreed her lung issues were most critical. Her spine curvature, uneven shoulders, and the resulting compression of her chest wall caused her lung volume to dip to a dangerous low of 30 percent.

Treatment options

A multidisciplinary team of orthopaedic surgeons, cardiologists, pulmonologists and anesthesiologists at CHOP met to discuss possible treatment options for Arwa.

Her orthopaedic surgeon, the late Dr. Robert Campbell, proposed that a VEPTR rescue was the best choice for Arwa. Invented by Dr. Campbell, vertical expandable prosthetic titanium ribs (VEPTRs) have been in use for more than 20 years and remain the only U.S. Food and Drug Administration (FDA)-approved treatment for thoracic insufficiency syndrome.

In 2014, the FDA ruled VEPTRs could be used in any age group — not just growing children. This change made it possible for Dr. Campbell to offer this innovative device to older teens like Arwa, who would likely die if not treated.

The orthopaedic surgeons at Children’s Hospital were confident in this approach. They’d performed thousands of VEPTR surgeries on critically ill children, and dozens on patients as sick at Arwa.

A small team of doctors talked to Arwa and her family about their options and provided their recommendations. The ultimate decision about whether to get surgery or not rested with Arwa’s family.

“We could take Arwa home to slowly die or we could stay here and try to save her life,” Mubarak says. “We had to try.”

VEPTR surgery

For the next few months, Arwa lived with her family in a rented house outside Philadelphia, and commuted to CHOP as needed. She received supplemental nutrition at night to help build up her strength.

In March 2016, Dr. Campbell operated on Arwa and installed two VEPTRs in her back to frame her rib cage. Positioned on both sides of her spine, the VEPTRs attached to Arwa’s shoulders and hips. The devices would allow her lungs room to expand as much as possible for breathing, and could be lengthened as she grew.

Arwa remained in the Hospital for a month after surgery so her medical team could monitor her cardiac condition and ensure there were no complications from surgery. Her mom stayed with her the entire time; her father and siblings visited often.

Road to recovery

After Arwa returned to the family’s temporary home, her father said he and his wife knew they’d made the right decision for Arwa’s future.

“We noticed a difference in her overall health after surgery,” Mubarak says. “It was much better and Arwa was acting like herself again.”

She engaged with her family more, wanted to learn again, and perhaps best of all, Arwa smiled more.

She also became very independent. Because she no longer needed assistance getting ready in the morning, Arwa began waking early, getting dressed and doing her chores — often before anyone else in the family was even awake.

While her change in health status was a medical breakthrough, Arwa was looking forward to achieving more personal goals: Heading home to Saudi Arabia, returning to school and seeing her friends again.

Hope for tomorrow

In November 2016, Arwa had VEPTR expansion surgery to lengthen the titanium rods in her back, further straightening her spine and giving her lungs more room to expand. In July 2017, a second expansion surgery was performed, along with a nonsegmental fusion surgery to keep the changes in place. The VEPTRs will likely remain in her back indefinitely, but will not need further expansion.

At a recent follow-up visit to CHOP, Arwa’s fondness for Dr. Campbell was evident. She beamed at him and gave him her highest praise — a double thumbs up.

The feeling is mutual, and Dr. Campbell shared how happy he was that Children’s Hospital of Philadelphia can help children like Arwa who have complex, life-limiting illnesses.

“There are no guarantees in a case as complex as Arwa’s, but we do know this: She now has a real shot at a future.”

Home sweet home

On Dec. 8, 2016, Arwa and her family took the 14-hour flight home to Saudi Arabia. Back in the comfort of her own home, Arwa, now 20, grows stronger by the day.

“Thank God, she is fine,” her father says. “We believe the surgery was a success — but God knows more about her future. For now, she is back to her normal life. She is doing well and is happy.

“We can’t thank Dr. Campbell and the staff of International Medicine enough for the care and compassion they showed Arwa and our entire family. ”

Updated Feb 2019