Journey to a rare diagnosis: Colten’s story

Christine Schweer knew early on that her son, Colten, faced some health complications.

Christine, a pediatric intensive care nurse living in the Midwest with her husband, Todd, and then 3-year-old daughter, Chloe, recalls feeling different during her pregnancy with Colten. Once Colten was born, little things started popping up, she says.

Over the next few months, Colten developed several symptoms: cold hands and feet, a sleepy demeanor, strange breathing and chronic, involuntary eye movements – a condition called nystagmus.

At this point, Colten had already gone through several emergency department visits, including an admission to the hospital for respiratory syncytial virus (RSV) and eventually unexplained heart failure. But after genetic testing and screening for cystic fibrosis, cancer and blood clots all came back negative, Colten and his parents and doctors were left confused.

Searching for an answer

Colten was 6 months old when two new symptoms arose. An occupational therapist thought Colten’s vision and hearing were waning, and an ophthalmologist confirmed the therapist’s suspicion.

Then, around 9 months old, Colten’s weight mysteriously began to skyrocket.

Meanwhile, the Schweers decided to relocate to California to be near family. Christine, who now works in the PICU at CHOC Children’s at Mission Hospital, transferred all of Colten’s records to CHOC. She began to schedule visits to a team of CHOC providers, including pediatrician Dr. Lauren Dwinell and pediatric cardiologist Dr. Anthony Chang.

Armed with her signature beach bag full of Colten’s records, Christine continued the search for a diagnosis with Colten’s new care team, led by Dr. Chang.

“We hit it off right away,” Christine says of Dr. Chang. “He admired me for my dedication and advocacy for Colten, and I respected him for his thoroughness, for trusting my parental instincts and for his commitment to innovative treatment. We developed a good rapport and a lot of trust. He would listen to me and recommend next steps for us both; then we would meet and compare results.”

But the Schweers and Dr. Chang were still puzzled by Colten’s symptoms, and Colten was now 2 years old.

“Nothing was adding up,” Christine says. Colten’s heart function would worsen if off his medication, and his weight continued to climb. “He was eating healthy and walking, swimming and exercising a lot, but his weight was not budging.”

A few years passed while they continued to search for an answer.

An answer at last

Dr. Chang suggested they revisit genetic testing, despite Colten having received genetic testing a few years prior.

“We trusted Dr. Chang’s instinct,” Christine says. “He pointed out that tests can change even in a short time, and he wanted to be sure we covered our bases.”

He sent them to Dr. Neda Zadeh, a CHOC pediatric geneticist and Associate Director of the Molecular Diagnostic Laboratory.

A thorough walkthrough of Colten’s history and several questions later, Dr. Zadeh had an idea. Recalling a case she encountered during her fellowship at Stanford University, she brought up a rare condition called Alström Syndrome and suggested they test for it.

While they waited, Christine got to work researching Alström Syndrome symptoms and immediately knew they had figured it out.

“Alström checked all the boxes: heart failure, flat and wide feet, nystagmus, obesity and delayed developmental milestones – it completely fit,” Christine says.

Six months later, a genetic sequencing test paid for by the foundation Alström Syndrome International confirmed what Christine and Dr. Zadeh suspected – Colten had Alström Syndrome. He was the 972nd person in the world to receive the rare diagnosis. By this point, he was 8 years old.

The Schweers were immediately welcomed into the Alström family, Christine says. They got involved with the foundation that covered Colten’s genetic testing, and families around the country and globe reached out to them. Colten even met one of his current best friends, a boy with Alström from Canada.

Despite the relief of a diagnosis after years of searching, Alström came with some difficulties. The diagnosis meant that Colten’s vision was weak and that his hearing would decline, too. The disease also affects his lungs, kidneys, liver and weight.

“It of course felt horrible at first to me and my husband to learn that Colten has a rare disease, but it was also a relief to know that we had an answer now; there wouldn’t be so many surprises anymore,” Christine recalls.

The Schweers continued to work with Colten’s specialists, finally certain they knew the cause of his symptoms.

Collaboration is key

Christine reflects on the years of searching for answers and, despite the difficult moments, feels thankful for their collaborative care team at CHOC.

“If it weren’t for Dr. Chang suggesting more genetic testing, if he hadn’t advised we see Dr. Zadeh and if it weren’t for the Alström case Dr. Zadeh remembered from years before, we probably wouldn’t have figured it out,” she says.

Christine thanks Dr. Chang for always keeping innovation in mind.

“It would be easy to think inside the box and rely on past test results,” Christine says, “but Dr. Chang always stayed up-to-date with tests and looked at things creatively. It’s a multidisciplinary team approach at CHOC.”

Most importantly, Christine admires the way Colten’s care team relates with him.

“Doctors at CHOC are very personal with Colten,” she says. “They get on his level and take time to get to know him and what he’s been up to. Colten trusts them and wants to make them happy, so it’s always a positive experience for him to see them.”

The approach has resulted in a fruitful partnership between Colten, his parents and his providers.

“We’re all such a good team now. We feel confident we’re doing everything we can possibly be doing for Colten.”

Learning about rare disease at Peds2040

The experience getting Colten’s diagnosis sparked in Christine a connection to the rare disease community. She heard about a rare disease panel planned for the Pediatrics 2040 Conference, an annual conference on innovation in pediatrics spearheaded by Dr. Chang, who had since been appointed CHOC’s Chief Innovation Officer and head of CHOC’s Sharon Disney Lund Medical Intelligence and Innovation Institute (MI3). Christine expressed interest in attending right away, so MI3 sponsored her to attend. The experience was invaluable.

“It was a great learning opportunity,” Christine says. “I had lunch with a speaker whose son had a rare cancer, spoke with other families and shared Colten’s story with providers, interns and residents.”

She also learned about CHOC’s partnership with Rady Children’s Hospital to offer microarray testing – a more thorough chromosomal test that can detect rare genetic conditions in kids like Colten during infancy.

Thinking back to Colten’s journey to a diagnosis, Christine felt grateful they had MI3 and Dr. Chang on their side. Peds2040 highlights the importance of medical innovation to those with rare diseases.

Colten visits with Dr. Anthony Chang at the Pediatrics 2040 Conference.

One of the most memorable moments of the conference for Christine was Colten arriving toward the end of the day, when he was able to catch up with Dr. Chang.

Colten today

Today, Colten is a loving, strong-willed, intelligent 13-year-old with a deep love of cars and an amazing memory. These days, he and his family are grateful to be able to go several months between specialist appointments.

Even so, Christine notes, he faces some difficulties.

He is short for his age, so they’re seeing endocrinologist Dr. Himala Kashmiri to monitor his hormone levels. Additionally, like his vision, Colten’s hearing has waned and will continue to weaken during his teenage years. But, Christine reports, he has learned braille and thriving at it. And, because Alström can affect multiple organs, they continue to watch his heart, liver and kidney function with the help of medication and several specialists.

Colten continues to see Drs. Dwinell and Chang, along with nephrologist Dr. Shoba Narayan, pulmonologist Dr. Chana Chin, gastroenterologist Ellen Schoenfield, NP, registered dietitian Vanessa Chrisman, audiologist Dr. Kristi Panek and a pediatric ophthalmologist.

Nevertheless, the Schweers ensure Colten is empowered to do what he wants.

“We’ve never held him back from doing something,” Christine says. “If he wants to do something, we’re going to make it happen.”

Colten joined a Challenger baseball team for kids with special needs, now one of his favorite activities.

And, despite vision loss, his love of cars is as strong as ever.

“Before, he could instantly tell you what a car was when he saw it” Christine says. “Now, he can identify them by sound.”

Some of Colten’s favorite memories so far include joining his baseball team, going horseback riding and ziplining, and he has plenty more adventures planned.

“Despite his challenges, he’s very determined and has a don’t-baby-me, I-can-do-this attitude that impresses me – and makes me a nervous wreck,” Christine adds.

“When Colten was little, his doctors said he might not be able to talk. Now we joke that we have to beg him for five minutes of quiet. He doesn’t stop talking when he’s around his loved ones.”

Advice for other families

Christine looks back at the difficult road to a diagnosis and is now grateful for the community that Alström has brought her family.

“Let yourself grieve after a difficult diagnosis,” she says, “but also try to recognize you’re part of a new family. You’re not alone in this. Know that there are other parents out there who know what this feels like, so don’t try to take it on all by yourself. Despite how it can feel at first, every day is not going to be a bad day.”

Learn more about Medical Intelligence and Innovation at CHOC

CHOC Heart Patients Among First to Experience Clinic of the Future

A pilot program at CHOC Children’s is giving cardiac patients and their families more peace of mind. Launched by pediatric cardiologist and CHOC’s chief intelligence and innovation officer Dr. Anthony Chang, the CHiP (Cardiopulmonary Health intelligence Program) clinic provides home monitoring equipment to families for the purpose of tracking patients’ vitals, such as blood pressure and oxygen saturation. Through telepresence, families can also connect with their physicians without leaving their homes.

Dr. Anthony Chang
Dr. Anthony Chang, pediatric cardiologist and chief intelligence and innovation officer at CHOC Children’s

“Patients and families feel more comfortable outside the clinical setting. But when away from the hospital, parents can feel very anxious about their children’s health and well-being,” explains Dr. Chang. “Our CHiP clinic ensures continuity of care, while providing great comfort to parents who know they can connect with their physicians without visiting their offices.”

CHiP is based on another innovative idea from Dr. Chang: the iClinic. According to Dr. Chang, the iClinic is a philosophy of leveraging emerging technologies to help create efficiencies, improve workflow and the continuity of care for patients by bringing CHOC expertise to patients’ homes.  The ultimate goal is improving quality care and positive outcomes for patients.

CHOC Children's Heart Institute

There are five key components of the iClinic, all starting with the letter “I”:

  • Instantaneous – Instead of periodic measurements at home, monitoring devices can measure at any time.
  • Intermittent – Instead of being limited to scheduled visits, virtual visits can happen at any time. These virtual visits can include educational sessions, in addition to wellness checks.
  • Individual therapy – Precision medicine is built into the iClinic, including genomics and pharmacogenomics, to find the medicine or treatment best suited for the patient.
  • Intelligent data-driven medicine – All data is compiled and analyzed to make the best possible decisions, including personalized medicine and drug discovery.
  • Intuitive interactions – Through telepresence and the ability to provide instantaneous data with feedback, the iClinic contributes to an experience that feels authentic and intuitive.

Dr. Chang envisions rolling the “clinic of the future” to other specialties at CHOC, beyond CHiP.

“This is the clinic of the future. It is inclusive of wearable devices, avatars, artificial intelligence and genomic medicine. But it’s important to note we’re not using the technology for the sake of just using fancy gadgets.  We are leveraging emerging technologies to really change how we deliver care in the best possible way,” explains Dr. Chang.

Providers who are interested in piloting a similar program at their institutions are free to contact Dr. Chang at achang@choc.org.

CHOC-hosted Peds 2040 Conference Explores Future Pediatric Trends and Technological Advances

CHOC Children’s continues to lead the way in technology and artificial intelligence in the world of pediatric medicine, with the second annual “Pediatrics 2040: Trends and Innovations for the Next 25 Years.”  The conference was held in January at The Ritz-Carlton, Laguna Niguel, bringing together some of the brightest – and even youngest – minds in health care and technology from over 100 institutions worldwide, including Europe, Asia, Middle East and Africa.

Dr. Anthony Chang, Peds 2040 program chair and a keynote speaker, addresses the audience.
Dr. Anthony Chang, Peds 2040 program chair and a keynote speaker, addresses the audience.

Led by Dr. Anthony Chang, pediatric cardiologist and CHOC Children’s chief intelligence and innovation officer, the one-of-a-kind event explored emerging trends and future innovations with the objective to inspire and challenge attendees’ approach to care. Over 500 attendees   participated in presentations on genomic and precision medicine, regenerative medicine and 3D printing, pediatric nanomedicine, medical devices and connected health, robotics and robotic surgery, artificial intelligence and big data, and innovations in health care delivery.

Keynote speakers included Dr. Anthony Chang; Dr. Daniel Kraft, physician and scientist, Stanford Medical School; Dr. Wendy Sue Swanson, pediatrician and executive director digital health, Seattle Children’s Hospital; Dr. Patrick Soon-Shiong, scientist and chairman and chief executive officer, NantWorks; and  Dr. Peter Szolovits, professor of computer science and engineering, MIT.

Innovation Beach,” one of the highlights of this year’s conference,

Roger Holzberg, founder of My Bridge 4 Life and Dr. Leonard Sender, medical director of the Hyundai Cancer Institute at CHOC Children’s, took third in the popular vote category of “Innovation Beach,” for the Infusionarium by Reimagine Well – an innovative video experience at CHOC Children’s Hospital offering a welcome distraction for young patients undergoing treatments that often last for hours.
Roger Holzberg, founder of My Bridge 4 Life and Dr. Leonard Sender, medical director of the Hyundai Cancer Institute at CHOC Children’s, took third in the popular vote category of “Innovation Beach,” for the Infusionarium by Reimagine Well – an innovative video experience at CHOC Children’s Hospital offering a welcome distraction for young patients undergoing treatments that often last for hours.

gave startup companies an opportunity to present their innovative health care products, ideas or solutions to a panel of judges. Innovations ranged from a hand-operated device that allows a medical provider to rapidly deliver a large volume of fluid through traditional IV access, to a humanoid robot used to interact with kids and help with pain management.  The popular vote winner went to young innovators, Jake Haygood and Hampton Woods, high school freshmen from Georgia and members of international Children Advocacy Network (iCAN), for their RFID (radio frequency identification) wrist band, which can be read by hospital personnel and uploaded to a medical charting system.

First place went to Glooko, a Silicon Valley-based company that wowed the audience with their mobile, cloud-based system which helps diabetes patients and their care providers manage their diabetes more efficiently, while helping to improve outcomes and reduce costs.

Kambria Sheridan, mother of two, leads a discussion on parents’ and patients’ perspectives. Her youngest son was born with a hypoplastic right heart, a butterfly vertebrae in his neck, microtia of his right ear as well as an underdeveloped right arm.
Kambria Sheridan, mother of two, leads a discussion on parents’ and patients’ perspective. Her youngest son was born with a hypoplastic right heart, a butterfly vertebrae in his neck, microtia of his right ear as well as an underdeveloped right arm.

Karishma Muthu, a 14-year-old intern from the Sharon Disney Lund Medical Intelligence and Innovations Institute at CHOC Children’s (MI3), stunned everyone when she won the best abstract in the artificial intelligence category. Other MI3 interns also participated by presenting their ideas and helping during the event.

This year’s conference also included patients and families who shared their stories, or showcased their own ideas or innovations. Through the “Young Innovators Workshop,” kids were introduced to innovation and worked in teams to learn the steps needed to turn an idea into a prototype. For many attendees, this was one of the most amazing aspects of the conference, and it will be continued going forward.

 Learn more about Peds 2040. 

To participate in the next Peds 2040 conference, email Dr. Anthony Chang at achang@choc.org.

 

Impact of Precision Medicine on Oncology Field

Precision medicine is changing how physicians think about treatments, with great advances coming out of the oncology field.  In podcast No. 42, three CHOC experts and speakers at the upcoming Peds2040 conference, Dr. Anthony Chang, Dr. Leonard Sender and Spyro Mousses, Ph.D., discuss exciting developments impacting patients today and offering tremendous hope for the future.

Dr. Sender, medical director of the Hyundai Cancer Institute at CHOC, is determined to find a cure for cancer and prevent or reduce the toxicity associated with treatments.  Under his leadership, CHOC has programs in place that bring together big data, bioinformatics and genomic sequencing.  In addition to discussing what CHOC is currently doing, he and Dr. Mousses, whose interested include artificial intelligence, share plans for the near future, including offering very complex molecular profiles in collaboration with multiple specialists and institutions, including hospitals and bioinformatics companies from across the nation.

To hear more from these three thought leaders, listen to episode No. 42:

CHOC Radio theme music by Pat Jacobs.

CHOC Appoints Chief Intelligence and Innovation Officer

Anthony Chang, MD, MBA, MPH, Chief Intelligence and Innovation Officer, Sharon Disney Lund Medical and Innovation Institute at CHOC
Anthony Chang, MD, MBA, MPH,
Chief Intelligence and Innovation Officer,
Sharon Disney Lund
Medical and Innovation Institute at CHOC

Dr. Anthony Chang, who helped establish the Sharon Disney Lund Medical and Innovation Institute at CHOC, has been appointed chief intelligence and innovation officer for the pediatric healthcare system.

Innovation has been a long-held organizational value at CHOC and now, with Dr. Chang’s leadership, vision and focus, along with the generous support of the Sharon Disney Lund Foundation, innovation will drive creative solutions that improve pediatric medicine in Orange County and abroad today and in the years ahead. We recently sat down with Dr. Chang to discuss the ways in which innovation is part of the hospital’s culture and to learn more about his vision for the future.

1) Innovation is becoming a trend at hospitals, such as Boston Children’s. What is CHOC doing different?

Innovation is simply solving problems with creativity and execution.

I do not feel that any children’s hospital should be competing with another in this culture of innovation, which promotes inter-institutional collaboration. What is truly inspiring is that we are already working very closely with a group of about 35 children’s hospitals in an innovation coalition (preliminarily called the international Society for Pediatric Innovation, or iSPI). This effort was a direct result of our Pediatrics2040: Trends and Innovations in the Next 25 Years meeting October 2013 here in Orange County.

2) What is CHOC doing to support a culture of innovation?

CHOC has embraced innovation in the past two years with the formation of the Medical Intelligence and Innovation Institute (MI3) with its monthly meetings and summer internship program. In addition, with the support for a chief intelligence and innovation officer, CHOC is investing in its future in both data analytics/ artificial intelligence as well as innovation in pediatric medicine. Throughout the next year or so, there will be group efforts to bring about a transformational change at CHOC to understand innovation and embed this in our institutional DNA.

3) What innovations are currently underway at CHOC to improve pediatric care?

We are very early in the process of innovation projects, but a few CHOC physicians and employees are being considered for MI3 innovation grants to provide time for creative solutions to problems. A few of the earliest innovations that are being explored at CHOC include: a new heart medication for babies; a new way to look at hospital patient data; a new way to predict heart failure in children with cancer who had chemotherapy; and a few devices in pediatric surgery. We are also organizing a quarterly CHOC Innovation Forum to engage all of our employees who like being creative!

4) What is your vision for the future?

I’d like to see an intellectual venue where all the pediatric stakeholders (doctors, nurses, allied professionals, parents, industry, etc) can come together to share and exchange innovations as well as growing iSPI, encouraging all the children’s hospitals to meet on a regular basis to discuss and practice pediatric innovation.

5) How can doctors and others interested in innovation outside of CHOC support this effort?

We welcome physicians and other pediatric stakeholders to support innovations in pediatric medicine by joining iSPI or attending our monthly MI3 meetings. Collaboration across multiple organizations and communities can lead to greater solutions to problems, positively impacting children here and across the globe.

Monthly MI3 Meetings

Meetings are held the third Monday of the month and feature updates on genomic medicine, regenerative medicine, nanotechnology, medical devices, artificial intelligence and robotics. For more information, contact Dr. Chang.