Preteen With Cystic Fibrosis (CF) Is Back to Active Life, Thanks to New Drug, Supportive Care Team

The journey for children with severe cystic fibrosis (CF)—a serious genetic disease—is often one of patiently waiting for a lung transplant, trying new medications, and hoping for a cure. That was the case for East Bay resident Damaris Gonzalez.

She was awaiting a lung transplant for over a year, but thanks to her innovative Stanford Medicine Children’s Health team going the extra mile, Damaris no longer needed the transplant once she began taking a drug called Trikafta.

Four years ago, when Damaris was 8, the medication wasn’t approved for children under 12. However, her pediatric pulmonologist, Rachna Wadia, MD, worked with her Stanford CF colleagues, including pediatric pulmonologist Carlos Milla, MD, to get Trikafta approved for Damaris under compassionate use guidelines.

The U.S. Food and Drug Administration approved Trikafta for older children in 2019 and just recently approved it for children as young as 2.

“This is one of the biggest CF breakthrough drugs that I’ve seen in my career,” said Dr. Wadia. “It really helps people and saves lives.”

This was the case for Damaris—it saved her life.

A miracle patient

Damaris was one of the first Stanford Medicine Children’s Health patients under 12 to take Trikafta.

“We consider her one of our miracle patients,” said Dr. Wadia. “When I teach Stanford School of Medicine residents, I give Damaris as an example of the great things that can happen by getting Trikafta early.”

Thanks to the medication, Damaris’s lung function has increased, and the preteen is back to hiking, biking, and dancing.

“She is a kind, sassy, and just a flat-out-wonderful human being,” said Dr. Wadia.

Damaris’s mother, Maria Gonzalez, said that receiving care at Stanford Medicine Children’s Health has made all the difference in the world, and Dr. Wadia is very accessible.

“Damaris is doing the treatments every day at home, taking her medication, and following instructions. If she gets sick, then we send Dr. Wadia a message,” she said.

CF is caused by gene mutations that create defects in a specific protein called the cystic fibrosis transmembrane conductance regulator protein, which is found in the airways. These mutations cause the protein to malfunction or not be made at all. Trikafta helps the protein function significantly better in patients who have at least one specific type of mutation.

CF also causes abnormal mucus buildup, which can impair lung function and lead to infections, shortness of breath, coughing, digestive problems, and poor growth or weight gain, among other issues.  

Even though Damaris is taking Trikafta, she still needs to do airway clearance treatments with nebulized medications and wear a vest that provides high-frequency chest wall oscillation several times a day. The vest is an inflatable garment that vibrates the chest to loosen the mucus, which a patient can then cough up.

Damaris also still requires oxygen support with exertion but is making improvements. She takes pancreatic enzymes to help her body absorb the nutrients from food, another common problem for CF patients.  

A special doctor-patient relationship

Dr. Wadia has treated Damaris since 2013, when she was a toddler. Dr. Wadia was a pulmonary fellow at the time. The two immediately shared a special bond.

“Because I speak Spanish, I would interact with her a lot,” said Dr. Wadia. “We made a connection early; and a few years later, when I became an attending pulmonologist, I took over her care.

“One of my favorite things about being a pulmonologist is that you build connections with families early. Damaris is my baby. She will be with me until she’s 21,” Dr. Wadia said with a smile.

When Damaris was a young child, every time she got a cold, mucus built up, and her oxygen level dropped. By 2019, her condition had worsened to the point where she was hospitalized near her home. After a year, she was transferred to Lucile Packard Children’s Hospital Stanford, where the CF team listed her for a lung transplant. “She was much too fragile,” Dr. Wadia said.

In 2020, Damaris went on Trikafta and immediately improved. “Since then, her lung function has been steadily increasing. She has grown a lot and is absorbing her food better,” Dr. Wadia added.

CF advancements provide hope

The CF team is constantly learning more about treating CF as new medications and advancements are developed, according to Dr. Wadia. Since children are being diagnosed at a younger age, they can start on therapies earlier, which increases their life expectancy.

The majority of patients with CF can now take a modulator such as Trikafta. However, approximately 10% of those with CF do not qualify for a modulator. It can be disheartening for this group to see so many CF patients improve with Trikafta, but the CF community has not forgotten about them. There is ongoing research by the worldwide CF community to find a cure for all and thus to give hope to all who have CF, according to Dr. Wadia.

The Stanford Medicine Children’s Health pulmonology team is one of the best in the country, according to U.S. News & World Report, providing a full range of services, including medical, psychological, respiratory therapy, nutrition, and social work. 

“We have new medications that can make a big difference [in addition to Trikafta],” said Dr. Wadia. “We can give patients a different talk when they’re diagnosed with a more hopeful outcome.”

Dr. Wadia continues to see Damaris regularly at the Stanford Medicine Children’s Health specialty location in Emeryville.

“Her family does a really good job managing her medications and making sure her life is full of friends, family, and activities,” Dr. Wadia said.

After living on pins and needles wondering if their daughter would ever get a lung transplant, or ever be well, the family is happy.

“If your child is doing well, is happy and joyful, then the family feels the same,” said Damaris’s mother, Maria. “What’s good for the child is good for the family—healthy eating, exercise, and a clean environment at home.”

Dr. Wadia said that the CF team is here to help and work with patients. “It’s amazing what has been done in the CF world. I feel lucky to be a part of it.”