Family Advocacy Day: Three families take their stories to Congress

Nova, who has Pfieffer syndrome, walks through a park.
Nova is taking her story to Congress

Later this June, three patients from Boston Children’s Hospital will be joining other kids and young adults from across the country at the 2018 Speak Now for Kids Family Advocacy Day in Washington, D.C. During their visit, they will share their stories with Congress and ask them to protect all children’s access to health care.

Meet Nova: An unusual condition doesn’t hold her back

Nova is a vibrant 8-year-old from Springfield who loves to read, build with Legos, play piano and hang out with her friends.

Nova was born with Pfeiffer Syndrome, a rare craniofacial anomaly that affected the growth of bones in her skull, face, neck and arms, causing them to fuse before she was born. She was transferred to Boston Children’s days after her birth for the expert care of the Craniofacial Program.

Nova has seen a wide range of specialists at Boston Children’s and has had more than a dozen surgeries to help her breathe, get nutrition, improve her access to sound, allow her brain room to grow and to protect her eyes. As she continues to grow, she will need more surgeries.

Over the years, she’s developed a special relationship with her otolaryngologist, Dr. Mark Volk. “The way that he connects with Nova is really special “Dr. Volk has gone above and beyond to keep her safety front and center and to keep her out of surgery,” says Liz. “He always gives us options, is always willing listen and allows us to be in control of her health.”

Although Nova spends a lot of time at the hospital, missing school and social events, she never lets it get her down.

Nova, who has Pfieffer syndrome, talking with the maestro at the symphony.
Nova talks with the maestro at the Springfield Symphony

“She’s always upbeat and positive,” says Liz. “The way she connects with people is unreal; I’ve never seen anything like it. Being her mom is the best thing that’s ever happened to me.”

Nova is excited to travel to D.C. to share her story.

“She’s pumped and is counting down days until the trip,” says Liz. “She’s really excited to meet the people who make some of the laws and who have an impact on funding.”

Nova, Liz and dad, Jason, are eager to advocate for reauthorization and adequate funding of the Children’s Hospital Graduate Medical Education (CHGME) program, which was created to support training activities that other hospitals usually receive through Medicare.

“We’re lucky that some of the people that pioneered some of these life-saving procedures are still with us,” says Liz. “But we need to train the next generation of doctors under these pioneers in their fields and we need to make sure that it’s something that’s attainable for the hospitals to do.”

Meet Noah: Loving life after heart surgery

Noah was diagnosed with hypoplastic left heart syndrome (HLHS) prenatally during a routine ultrasound. Although his parents, Kristina and Rick, live in Maine, they decided to transfer their prenatal care to Brigham and Women’s Hospital, so Noah could be monitored by cardiologist Dr. Kevin Friedman and cared for at Boston Children’s right after his birth.

Noah, who has HLHS, poses for a studio photo.

“When we first met him, Dr. Friedman immediately made us feel like we were in the right place and that Noah was going to be okay,” says Kristina. “He has been very down to earth, humble, compassionate, honest and patient with us on this journey. He’s always answered our questions right away and helped us work through our fears.”

Noah had his first open-heart surgery at 3 days old and his second at about 4 months, both with cardiac surgeon Dr. Luis Quinonez. He’s scheduled to have his third, and hopefully final, surgery next summer.

Although he’s needed one unexpected catheterization, Noah is doing well and is now a thriving and social 18-month-old who loves saying “hi” to everyone he meets.

“He’s the happiest baby I’ve even seen. Even in hospital after his last surgery, he was full of smiles,” says Kristina.

Noah loves playing outside, listening to music and his big brother, Richard.

Noah, who has HLHS, dressed up as a lion, poses with his family on Halloween.
Noah with his parents and big brother, Richard

During the trip to D.C., Kristina and Rick want to connect with their representatives in Congress to discuss the importance of having easy access to specialized pediatric care.

“Although we live in another state, we’re lucky that Boston Children’s is just a few hours away,” says Kristina. “We know lots of people who have to travel across the country to find care for HLHS. We believe the world-class care Noah has received at Boston Children’s has helped him thrive. All families deserve to have this kind of care for their children.”

Meet Kayla: Marathoner and expert hugger

Kayla has been a patient at Boston Children’s from the time she was 4 weeks old, when a heart murmur brought her to cardiologist, Dr. Mark Alexander.

“We still see him today, 23 years later,” says Kayla’s mom, Kristine. “They have a special connection and Kayla can’t wait to hug him.”

At that time, Kayla was diagnosed with a ventricular septal defect (VSD) and had surgery with Dr. John Mayer  to repair the problem at 4 months old. But that was just the beginning of Kayla’s journey at Boston Children’s.

Kayla, who has mitochondrial disease and TRIO, gives her stepdad a hug.
Kayla shares one of her special hugs with stepdad, Brian Bridges

As Kayla began to miss milestones, Kristine knew something else was going on. At about age 3, Kayla was diagnosed with mitochondrial encephalomyopathy complex 1 deficiency, a rare disorder in which the body’s cells have problems producing energy. But that diagnosis didn’t explain all of Kayla’s symptoms.

“Over the years, her doctors kept saying they thought she had another syndrome because of her unique facial features and the shape of her feet and hands, but they didn’t know what it was,” says Kristine.

Then, last year, she was the 20th person in the world to be diagnosed with TRIO, a defect on the fifth chromosome linked to intellectual disability, autism, and unique features in the hands, feet and face. Doctors and researchers are still learning more about it.

Because of Kayla’s unique set of conditions, she has seen a wide range of specialists at Boston Children’s, from neurology and urology to orthopedics. Through it all, Kristine has been her biggest advocate, fighting for her daughter every step of the way.

“Kayla’s experience has fueled my passion to advocate on behalf of families around health care issues and special education,” says Kristine. She’s currently working on a master’s degree in health advocacy.

Kristine also finds time to run with Kayla, and in 2013, the duo made history as the first mother-daughter wheelchair team to finish the Boston Marathon.

Kayla, who has mitochrondrial disease and TRIO, gets a kiss from her mom.
Kayla gets a kiss from her mom after a race

“When I look at Kayla, I think everything she lacks in cognitive ability she makes up for in social ability,” says Kristine. “If she likes somebody she’s going to give them hugs.”

Kayla’s hugs are legendary. Over the years, she’s had her photo snapped hugging many local celebrities, including a few New England Patriots players.

When they meet members of Congress, Kristine is anxious to share her concerns about the future of health care and funding of the Children’s Hospital Graduate Medical Education (CHGME) program.

“Costs are going up, but kids need this specialized care,” she says. “We need doctors who are trained. If hospitals aren’t getting funding for these specialized doctors, who is going to train them?”