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

At Caleb’s 3-year wellness-check-up, his mom mentioned that he’d begun to walk oddly, and his doctor noticed the bones in Caleb’s chest weren’t growing as they should have been. X-rays came back normal, but his pediatrician referred him to Dr. Touran Zadeh, CHOC’s medical director of genetics services. Through a blood sample and testing, she diagnosed Caleb with mucopolysaccharidosis (MPS) type II, a rare lysosomal storage disease.


Six out of 1 million children are diagnosed with MPS II. The lysosomes in each cell have to dispose of each cell’s waste. Caleb’s body cannot eliminate the cellular waste; it stores the waste in his joints, bones, heart, liver and lungs — almost every organ system in his body is affected.


All seven types of MPS are inherited and can share similar physical symptoms, which may include thickening of lips and skin, enlarged liver and spleen, hernias, recurrent ear infections, joint pain and stiffness, and short stature. Neurological symptoms are present in some types of MPS.


Days after their diagnosis, Caleb’s family was in CHOC’s metabolic clinic and meeting Dr. Raymond Wang, a metabolic disorders specialist. Here they found the comfort they’d been seeking.


“The moment we walked into CHOC, I finally felt comfort,” Caleb’s mom Marie says. “Our metabolic nurse was very friendly and concerned about us as soon as we arrived.”


Caleb’s dad Rory adds, “We weren’t just another number. We had all these experts in one room, but they also had really big hearts.”


A few months later, Caleb’s team placed a port-a-cath in his chest to accommodate 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.


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.
“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.”


Over the last 11 years, Caleb has had many surgeries and procedures at CHOC, including hernia repair; adenoids and tonsil removal; double knee surgery; and many MRIs and ultrasounds.


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


“That was a blow. With MPS, you have times of calmness for a while followed by devastating news. We take one day at a time, or even one step at a time,” Marie says. “We take advantage of calm waters and recharge because we never know the next wave is coming.”


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 adds, “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. We live life to the fullest because none of us know what tomorrow will bring.”



Caleb, now 14, is an avid runner. Typically, someone with MPS struggles with joint stiffness and pain and running can be challenging. Caleb also loves hiking and has climbed tall mountains at national parks across the country. He exercises every day, whether it’s riding a stationary bike, running or lifting weights. Daily exercises helps Caleb physically, and keeps him mentally healthy.



“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,” says Caleb’s mom Marie.


Rory adds, “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.”



“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 say have courage and never give up. To those who have been battling MPS or another disease for a long time, remember 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. The journey has taken lots of courage, endurance and patience. My faith has equipped me with courage and given me much comfort and hope, knowing that God has a plan for my life.”