A lifelong battle with a rare disease: Caleb’s story

When Caleb was born, his parents were thrilled to grow their family with a healthy baby boy. The first two years of Caleb’s life were typical and the family of four enjoyed spending time together.

Three years later, his mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis that would alter the course of his family’s future.

Journey to a life-changing diagnosis

At Caleb’s 3-year well-check, his mom Marie noticed he’d begun to walk oddly, and she mentioned it to his pediatrician. That doctor performed a physical exam and noticed the bones in Caleb’s chest weren’t growing as they should have been, so he ordered X-rays of his chest and hips which eventually came back normal.

“I still remember when we got the clear X-rays and our pediatrician told us, ‘I still think there is something wrong with Caleb. I don’t know what it is yet, but we are going to find out’” Marie recalls. “I knew he had been a pediatrician for decades and treated thousands of children and I trusted his instinct. That is when the process really began, and every moment counts when you’re searching for a diagnosis.”

Caleb’s pediatrician referred him to Dr. Touran Zadeh, medical director of genetics services at CHOC Children’s. Through a blood sample and testing, she was able to diagnose Caleb with mucopolysaccharidosis (MPS) type II, a rare lysosomal storage disease.

What is MPS II?

Six out of 1 million children are diagnosed with MPS II. The lysosomes in each cell are required to get rid of the cellular waste that each cell produces. Caleb’s lysosomes do not work properly, so his body cannot eliminate the cellular waste. His body stores the waste in his joints, bones, heart, liver and lungs — almost every organ system in his body is affected.

There are seven types of MPS, all of which are inherited and can share very similar physical symptoms. The physical symptoms may include thickening of lips and skin, enlarged liver and spleen, hernias, recurrent ear infections requiring ear tube placement, joint pain and stiffness, and short stature. Neurological symptoms are present in some types of MPS and may vary in severity.

Meeting his care team

“Within a few days, we were in CHOC’s metabolic clinic and meeting Dr. Raymond Wang, a metabolic disorders specialist,” recalls Caleb’s dad Rory. “It felt like our world was crumbling down. Our dreams for Caleb were crushed. But we knew that Dr. Wang had a tremendous amount of compassion; he was so concerned for Caleb.”

Caleb and Dr. Wang at CHOC
Dr. Wang and Caleb

In the metabolic clinic, the family found the comfort they had been seeking.

“The moment we walked into CHOC, I finally felt comfort,” Marie says. “Our metabolic nurse was very friendly and concerned about us.”

Rory adds, “When we walked into the patient room, we weren’t just another number. We had all these experts in one room, but they also had really big hearts.”

Over the past 11 years, the family has since formed a special bond with each of the doctors on their care team, but especially with Dr. Wang.

“Dr. Wang was there to encourage and comfort us,” Rory says. “Our faith also helped bring us through the storm.”

Navigating life with MPS

A few months after Caleb’s diagnosis, his team placed a port-a-cath in his chest to accommodate his weekly infusion treatments. Caleb receives a four-hour enzyme replacement treatment every week to help eliminate the buildup of cellular waste in his body. This treatment helps patients with MPS II but is limited to only reaching soft tissue such as the liver, spleen and kidneys; it does not reach the joints, spine or brain.

For the first year, he received this treatment at The Dhont Family Foundation Outpatient Infusion Center at CHOC Children’s Hospital. To help comfort Caleb and get him through the treatments, the staff would give him a new toy every week.

“When we transitioned to receiving weekly infusions at home under the care of a home health nurse, Caleb was so used to getting a new toy every week that we decided to start buying him toy cars,” Marie says. “He has collected over 125!”

Around that time, Caleb was also placed on two heart medications to treat a thickening valve and enlarged heart, which is a part of MPS II. The medications Caleb started taking at age four are typically prescribed to adults. Dr. Anthony Chang, a pediatric cardiologist and CHOC’s chief intelligence and innovation officer, sees Caleb every three to six months.

“Putting our toddler on multiple heart medications was devastating,” Marie says. “I would hide his heart medicines in Cheerios just to get him to take them.”

Dr. Aminian and Caleb
Dr. Aminian and Caleb

Over the last 11 years,  Caleb has had a number of surgeries and procedures at CHOC, including hernia repair; removing his adenoids and tonsils with Dr. Gurpreet Ahuja; double knee surgery with Dr. Afshin Aminian; MRIs and ultrasounds to monitor his enlarged liver, kidneys and spleen; and additional MRIs of his head, heart and spine to monitor the buildup of cellular waste.

Dr. Ahuja and Caleb
Dr. Ahuja and Caleb

He’s also under the care of Dr. Anchalee Yuengsrigul, CHOC’s medical director of pulmonology. Most recently, Dr. Yuengsrigul helped educate Caleb’s family on how to protect Caleb from COVID-19 given his pre-existing conditions.

Dr. Yuengsrigul and Caleb
Dr. Yuengsrigul and Caleb

A parent’s perspective

Although Caleb never developed a fear of going to the doctor despite a childhood filled with doctor’s appointments, sometimes when he was younger, he would tell his parents that he was tired of all the doctor visits.

“As a mom that was hard for me to hear because I couldn’t tell him, ‘We can take a break’ because he will be doing this for the rest of his life,” Marie says. “This disease is life-limiting and life-threatening.”

Rory echoes that strain of wanting to make your child’s pain go away and not being able to do so.

“Dads are supposed to fix everything, and moms are supposed to make everything feel better. And when you don’t have the ability to do that, our faith was the only place we could go,” Rory says.

Rory also encourages parents to be mindful of the places they seek out information online.

“It’s important for parents to be careful about what they look at on websites. When we got our diagnosis, we found a lot of scary information online and we were already dealing with getting bit by this diagnosis,” he says. “Always go back to your physician for up-to-date information on your child. Researching online may create more anxiety. These physicians know your child, and they know where to direct you for accurate information”

Two years ago, Caleb’s MPS spread into his eyes.

“That was a blow to us. With MPS, you have times of calmness for a while and then devastating news comes. We take one day at a time, or even one step at a time,” Marie says. “As parents, you get these windows of calm waters, and we have learned to take advantage of those as a time to recharge because you never know the next wave is coming.”

Focusing on what’s most important

Becoming busy with everyday life can make it easy to get swept up in stressors that don’t really matter in the end, Rory says.

“Instead of focusing on to-do lists, I try to focus on, ‘Do my kids know I love them today? Does my wife know I love her today?’”

Marie shares that the family sees every day as a gift of life

“Early on, we learned that every day and every year we had with Caleb was precious. Every birthday is special – we go all out and shower him with gifts and love,” she says. “We live life to the fullest because none of us know what tomorrow will bring.”

Caleb’s life today

Caleb, who is now 14 years old, is an avid runner, something he started when he was 7 years old. His story offers hope, inspiration and courage to others daily.

“Running with MPS is very challenging. Someone who has MPS typically struggles with joint stiffness and pain.  It bears some similarities to arthritis,” Dr. Raymond Wang says.

Caleb is also an avid hiker and has climbed tall mountains at a variety of national parks across the country with his family. He exercises every day, whether it’s riding a stationary bike, running or lifting weights. He also enjoys horseback riding, whitewater rafting and hiking.

Caleb-and-family-on-vacation
Caleb with his family on vacation.

“Daily exercise has kept him mentally healthy and helped him physically as well,” Marie says. “Early on, his doctors told us to keep his joints flexible so that someday, when and if there is a cure, he will be ready for it. We try to keep Caleb as healthy as we can. That is why exercising is so important.”

In addition to daily activity keeping Caleb physically and mentally strong, his parents want to ensure he never feels limited by MPS.

“You cannot allow this disease to dictate your life. Of course, we have to be mindful of limitations that his doctors tell us, but there is still life to be lived,” Rory says.

Giving back to CHOC’s

In 2014, Caleb and his family joined CHOC Walk in the Park. Their team has grown in size every year since.

“For all that we had been blessed with by CHOC, we wanted to give back and help support other families,” Marie says.

Rory adds, “As a patient, you’re on the receiving end. We wanted to be on the giving end. We give back because we want Caleb to be a part of helping to find a cure and helping other families in some way.”

Caleb’s gotten creative in the past with various fundraising efforts including an ice cream fundraiser, but these days, Caleb is running as to raise funds. This summer, he ran 78 miles – or roughly the equivalent of three marathons – to raise money for CHOC.

“We were so proud of Caleb. He was dedicated to getting up early and going running,” says Marie, who adds that sometimes family members would join Caleb for runs.

“Running is important for our mental health as a family,” Rory says. “His doctors have told us that fresh air is great for him and being outdoors helps him as well.”

Caleb’s advice

“Although my journey with MPS has been a difficult one, I have learned to meet each day with courage and gladness and make the most of the opportunities I do have,” Caleb says. “To those who have just begun their battle with MPS, I would say to have courage, never give up and continue to press on. To those who have been battling MPS or another disease for a long time, I would remind them that you cannot do this alone. You need people around you like your family, friends, nurses, doctors and even your faith to give you courage and comfort. I have been on my journey for 11 years now and it is not easy. The journey has taken lots of courage, endurance and patience. For me personally, my faith has equipped me with courage and given me much comfort and hope, knowing that God has a plan for my life.”

Learn more about CHOC's metabolic disorder program

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Walking for a hero: CHOC Walk teams honor lost loved ones

The CHOC Walk in the Park is more than a fundraiser and celebration of healing. For many families, this annual event is a chance to cherish the memory of a child. In solidarity, CHOC has created “Walking for a Hero,” a program to honor the children who have passed away and give their families special hero capes to commemorate the bravery that extended throughout their short but impactful lives.

The cape colors were inspired by Carter Ankeny, a former CHOC patient. One month before his 5th birthday, Carter was diagnosed with acute lymphoblastic leukemia, a rare type of cancer. His family spent much of their time dedicated to Carter’s healing, and CHOC became a home-away-from-home. After years of treatment, Carter’s condition suddenly worsened.

Even on the darkest day of their lives, the Ankenys remained grateful for the support they received from the community they had built within CHOC.

“I remember how many people came to see us on the day he passed,” remembers Carter’s mom, , Jamie.  “Nurses, doctors, volunteers —everyone that we interacted with. They didn’t have to come, but they did. We’re so lucky to have such an incredible hospital so close to us.”

The “Walking for a Hero” program became one of the many ways the Ankenys celebrate Carter and support other families who have experienced loss.

choc-walk-carter-strong
Carter’s family participate in CHOC Walk in the Park to honor his legacy, raise awareness for childhood cancer, and give back to CHOC.

“All we want to do is share our story,” says Jamie. “We want more people to know Carter’s name and more people to recognize CHOC. We also want to spotlight childhood cancer research, so we won’t have any more outcomes like Carter’s.”

Carter’s dad, Tim, agrees.

“We’re all for anything that keeps his memory alive,” he says.

During this year’s CHOC Walk, thousands of families will walk through the Disneyland® Resort with a purpose: some to encourage, some to remember, all to honor their heroes. And once again, we will walk in memory of Carter and other brave children and honor their memories with “hero capes” as a symbol of unity for the many families walking in memory of a loved one. Through this program, we’ll raise vital support and awareness so that more patients and families in our community can find the healing, hope and comfort they deserve.

Join the “Walking for My Hero” program and get your free hero cape.

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CHOC Family Honors their Little Hero Through CHOC Walk

For more than a decade, the Gomez family has held a special place in their hearts for the CHOC Walk in the Park. The beloved event is a particularly special time every year to honor their son, Robby Gomez.

Robby was born in 2001 at a local hospital with a rare form of laryngomalacia, a congenital condition where floppy tissue above the vocal cords falls into the airway opening when an infant breathes in, causing restriction of the airway.

Upon learning about his condition, their baby boy was quickly rushed to CHOC Children’s, where he was admitted to the neonatal intensive care unit (NICU), and underwent several surgeries, including a tracheotomy, a procedure that opens up the windpipe (trachea) to allow a breathing tube to be inserted to provide an airway.

After a few weeks in the NICU, Robby was finally released to go home. He would occasionally go back to CHOC for care, but otherwise Robby led a typical life with little to no restrictions. As he grew, he was an active, vivacious little boy who participated in sports, played and jumped around like most children.

robby-batman-gomez
Robby “Batman” Gomez

Tragically in 2006, at age 5, Robby died unexpectedly in his sleep from complications of his condition.

“Robby was an amazing and loving boy, whose strength and positive energy was infectious,” says Robby’s dad, Marty.

Marty and his wife, Julie, knew they had to find a way to give back to CHOC, since CHOC had been there for Robby and their family every step of the way.

“We’ll always be grateful to CHOC. The level of care and compassion that we received was extraordinary and we’re so thankful for the five years CHOC gave us with our son,” Julie says.

When Julie heard about the CHOC Walk, she knew she had to get involved. She formed team Robby “Batman” Gomez  in honor of Robby, whose favorite super hero was Batman. The team started off with just a few members – Julie, who is team captain, her mom, and two of Julie’s best friends.

Today, Team Robby “Batman” Gomez has around 30 members, and is one of the top CHOC Walk teams, having raised over $100,000 benefiting CHOC. This year alone, the team has already raised more than $15,000.

“We’re happy to do anything we can for CHOC. The CHOC Walk is such a special, unique opportunity that touches so many lives in our community. You can see the overwhelming compassion of everyone there, whether they are honoring a current patient or a child who has passed on,” Julie explains.

robby-batman-gomez-playing
Robby “Batman” Gomez

Julie and her friends and family have also held several community fundraisers benefitting CHOC over the years, including car washes, restaurant give backs, and most recently a golf tournament.

The Gomez family, including Robby’s brother and sister, Matthew and Emily, and their friends will always enjoy sharing their little “hero’s” story, especially around CHOC Walk time.

“Robby is our angel. He’s our guiding light, a beacon of goodness, and has forever left an impact on the lives he touched,” Julie says.

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Mental Health Staff Give Back Through CHOC Walk

Inspired by the care provided to patients and families at CHOC Children’s and the desire to further eliminate the stigma of living with a mental health condition, clinical staff members of the newly opened Mental Health Inpatient Center have formed a team for CHOC Walk in the Park, one of the largest and most anticipated fundraising events of the year. The team will join a crowd of more than 15,000 CHOC supporters for the Walk on Sunday, August 26.

choc-walk-mental-health-team
Select clinical members of the Mental Health Inpatient Center’s CHOC Walk in the Park team.

The team, Stomp Out Stigma, has already organized two fundraisers, with a third in the works, to support their fundraising goal for the Walk. The first two fundraisers were held at local restaurants, with a portion of proceeds going to their team. An upcoming fundraiser, at a local thrift shop, allows community members to drop off and donate household goods such as clothing, books and home supplies in exchange for denominations to the team.

The staff wanted to come together and form a team for the Walk, one of the largest and most visible fundraisers of the year, to further decrease the stigma associated with mental health.

“Mental health has a stigma attached to it, so we wanted to create a team to inspire others to decrease that stigma that can be associated with mental health,” says Kelsey, a clinical nurse in the Center and team captain of Stomp Out Stigma. “We want to promote that mental health is just as important as physical health, and by participating in this Walk as a team, we are helping to bring mental health into a new light.

The team also hopes their participation in CHOC Walk will provide further education about the new Center.

“We want the community to know that Center is a healing, nurturing environment that provides resources to families in need as well as a safe place for children to learn how to cope with their Mental Illness,” Kelsey says. “Mental health is important because it includes our emotional, psychological, and social well-being. It affects how we think, feel, and act. It also helps determine how we handle stress, relate to others, and make choices. Mental health is important at every stage of life, from childhood and adolescence through adulthood.”

The chance to be part of a patient and family’s healing process is what inspired Kelsey to pursue a nursing career.

“I believe that nursing is simply to give tender loving care while applying it to the everyday concept of medical care,” she says. “I have been a pediatric psychiatric registered nurse for five years. When I learned that CHOC was building a Mental Health Inpatient Center, I wanted to be a part of it since it is my goal to be able to give back to my local community.”

Since joining CHOC’s staff, Kelsey has been inspired by CHOC’s commitment to innovation.

“I’m thoroughly excited to be a part of an ever-changing, excellent organization where our strive is to provide innovative health care to patients and their families. Being the first Mental Health Inpatient Center for children under the age of 12 in Orange County, we are inspired to change the way mental health is viewed through the community as well as the way care is given to our population.”

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Keeping it in the Family: Why a Disneyland Resort Cast Member Joined the CHOC Walk

For Andrew Geis, participating in the annual CHOC Walk in the Park is only natural.

After all, Andrew credits CHOC Children’s with saving his daughter’s life, and the annual fundraiser takes place throughout his office – the Disneyland Resort.

Cumulatively, the Disneyland Resort has been CHOC’s largest corporate donor over the past 25 years, and the annual CHOC Walk in the Park is the hospital’s largest fundraiser, raising more than $32 million to date.

“I feel a sense of pride that an organization I’ve been with for 17 years has such a strong relationship with CHOC, which has done so much for my family,” says Andrew, who is part of the Disneyland Resort’s catering and convention services team. “The CHOC Walk is a small way that we give back and recognize the incredible care that we had at CHOC.”

Many Disneyland Resort cast members who have been personally impacted by CHOC participate every year. Last year, the Disney VoluntEARS walk team raised more than $90,000 for the hospital.

The Geis family’s relationship with CHOC began even before baby Sawyer was born. Imaging conducted while she was in utero revealed two possible heart defects, the severity of which wouldn’t be known until she was born.

The family started planning, and immediately after her birth, Sawyer was transferred to CHOC’s neonatal intensive care unit. There, further testing revealed a constricted aorta; an atrial septal defect (ASD), or a hole between the top chambers of her heart; and a ventricular septal defect (VSD), or a hole between the heart’s lower chambers.

Geis parents_at CHOC
Andrew and his wife Michelle with their daughter Sawyer shortly after she was born.

Sawyer would need surgery – and she’d need it quickly, specialists told Andrew.

“I don’t think you’re actually ever prepared to hear that when your child is less than 24 hours old,” he says. “It was like a kick to the heart.”

Within days, Sawyer underwent surgery to repair the defects. Dr. Richard Gates, co-medical director of the CHOC Children’s Heart Institute, and Dr. Joanne Starr, medical director of cardiothoracic surgery at CHOC, fixed the constriction in her aorta, partially closed the ASD, and placed a band around Sawyer’s pulmonary artery to equalize pressure in the two sides of her heart and force the blood to flow to the lower half of the body.

While the surgery was a success, recovery in the cardiovascular intensive care unit was tough. There, Sawyer had an irregular heartbeat, which required the activation of an external pacemaker. Then, she also developed a blood clot. That same day, Sawyer experienced a three-minute seizure.

The clot and seizures were successfully mitigated, and a CT scan following the seizure showed no signs of a stroke or blain bleed. But Sawyer remained in the CVICU healing, growing and learning to eat on her own for several weeks.

During her stay, Andrew and his wife, Michelle, took shifts, alternating who stayed with Sawyer and who went home to their 5-year-old daughter, Parker. When Parker came to the hospital to visit, CHOC staff made a point to connect with her and ensure her needs were also met, Andrew recalls.

“My wife and I felt very strongly that it wasn’t only about the care Sawyer received, but that the entire family was taken care of,” he says. “That level of compassion and total family care was evident in all interactions with team members of CHOC.”

And finally, after 32 days, a 1-month old Sawyer headed home to join her family.

Sawyer headed home from CHOC
After spending just over the first month of her life at CHOC Children’s, Sawyer was finally able to go home.

During their time at CHOC Children’s Hospital, the Geis family became increasingly aware of the long relationship between the heath system and Disney, from Walt Disney’s early fundraising efforts before the hospital was built to the Disneyland Resort’s $5 million gift toward construction of the new Bill Holmes Tower, which houses the interactive “Turtle Talk with Crush” show donated by Walt Disney Imagineering.

“I certainly enjoy working for Disney and all that it represents, and knowing that Disney is affiliated with CHOC Children’s, which did so much for my family when we were in a medical crisis – I think is a unique blend,” Andrew says.

Just after Sawyer’s first birthday, the family participated in its first CHOC Walk, now a family tradition that will continue at this year’s walk. “Team Sawyer” will strut proudly on Aug. 26, joined by its spunky and sassy, 3-year-old namesake, who knows exactly why they walk.

Geis family at CHOC Walk 2017
The Geis family, including Team Sawyer’s namesake, at CHOC Walk 2017.

“Sawyer will point to her scar and she’ll say, ‘Tell me about my scar,’” Andrew says. “We’ll talk about her heart and what was wrong with it and what had to be done with it. ‘Who was with me in the hospital?’ she’ll ask, and we’ll tell her, ‘We were all with you in the hospital.’”

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