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. 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 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 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.”

Conference to Connect Medically Complex Teens, Parents with Peers

An upcoming CHOC conference will help teens with medically complex connective tissue disorders and their parents learn more about their diagnoses – and connect with others who have similar conditions.

The Dec. 3 and 4 “Connecting the Dots … Diagnosing and Treating Children and Adolescents with Medical Complexity” is geared for parents and their teens with a handful of conditions: Ehlers-Danlos syndrome; pain syndromes; postural orthostatic tachycardia syndrome (POTs); dysautonomia; and mast cell activation disorder.

“One of the goals of this conference is for parents and patients to have a better understanding of their condition, how the diagnosis is made, the symptoms as well as what treatments are available. It also gives patients and families a chance to meet others going through the same experiences and having the same or similar diagnoses” says Dr. Neda Zadeh, a CHOC geneticist who will participate in the conference.

medically complex

Because these conditions are rare and can often take a long time to diagnose, many patients experience feelings of isolation, she says.

“My experience has been that when you tell someone that they’re not alone, that there is a diagnosis, and that there are many other people with this same condition, you can see their body language change immediately usually to a form of relief,” Dr. Zadeh says.

“For many, it is incredibly cathartic for them to hear that there’s a name for this condition, and that it is a real diagnosis and a reason for all of the symptoms they have been experiencing for so many years without knowing or understanding why,” she adds.

Over the two-day conference, parents and teens will hear from a variety of specialists who treat aspects of these conditions, including cardiologists, allergists, pain specialists and anesthesiologists.

On Saturday afternoon, attendees will be broken into two tracks: one for parents and another for teens. During the teens’ break-out sessions, attendees will have an opportunity to anonymously ask specialists questions. The day will conclude with a pizza party, where parents and teens can meet peers who have similar diagnoses and experiences.

Sunday’s session will feature a panel of CHOC experts – including Dr. Zadeh, gastroenterologist Dr. Ashish Chogle, cardiologist Dr. Michael Recto and anesthesiologist and pain specialist Dr. Paul Yost – as well as breakout sessions covering advocacy issues and support systems for raising chronically ill children.

Parents and teens can register for the conference on CHOC’s website.

The conference has a Dec. 3 component solely for the education of medical providers. Parents who think their child’s physician might be interested can also find more information on CHOC’s website.

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Trisomy Awareness Month: What Parents Should Know

In honor of National Trisomy Awareness Month, we spoke to a team of genetic counselors from the CHOC Metabolic Clinic.  ‘Tri’ refers to three, and ‘somy’ refers to ‘body’ or in this case chromosome- therefore, individuals with a trisomy have an extra chromosome in some or all of their cells, which affects development. Trisomies can occur on any chromosome, and are named for the chromosome for which the extra copy appears. The most common trisomies are Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome).

Healthy babies have 23 pairs of chromosomes, tiny rod-shaped structures in the nucleus of almost every body cell. Each parent contributes half of their child’s 46 total chromosomes. Sometimes random genetic events occur during the formation of eggs and sperm in healthy parents and lead to a child getting an extra copy of a certain chromosome, for a total of 47 chromosomes.

A trisomy is not usually passed down from generation to generation, but rather is the result of two chromosomes sticking together at the time of cell division. This is called non-disjunction, and leads to the baby having an extra chromosome for a specific chromosome pair. Chromosome trisomies can be detected during pre-natal diagnostic testing, but may be detected in the baby’s blood after birth as well, says Kate Partynski, a board-certified genetic counselor in CHOC’s Metabolic Clinic.

CHOC’s genetic counselors, geneticists and other specialists are equipped to help these patients and their families, by providing information, resources and support.

Trisomy 21- Down syndrome

The most common trisomy is Down syndrome, which occurs in one in 733 births. Children with Down syndrome require multidisciplinary care teams to address their unique health care needs and developmental challenges that may include heart defects, intestinal malformations, visual impairment, hearing loss or other conditions.

Because Down syndrome is associated with mild to moderate intellectual ability, early intervention is essential to maximizing the potential of each child, says Karen Leydiker, a board-certified genetic counselor in CHOC’s Metabolic Clinic.

CHOC’s Down syndrome program bridges community services and clinical specialists to ensure the unique needs of each patient are met. The program works in tandem with the Down Syndrome Association of Orange County to provide parents and families access to a comprehensive range of resources, including parent mentors, information for expectant parents and sibling support groups.

Trisomy 18- Edwards syndrome

Trisomy 18, also known as Edwards syndrome, is the second most common human trisomy and occurs in 1 out of every 6,000 pregnancies. This is caused by having three copies of chromosome 18 instead of two. Half of these affected pregnancies will survive to term, and approximately 10 percent of children born with this condition may survive until 1 year of age, with the majority passing away within the first few weeks of life. The high mortality rate is due to complications from brain abnormalities, congenital heart defects, kidney defects and other congenital anomalies, according to Leydiker. For those babies who do survive their first year, it does become a possibility that they can live for several years, but will be expected to be severely developmentally delayed and require multiple organ system support.

Trisomy 13- Patau syndrome

The third most common human trisomy, Patau syndrome, occurs once in every 10,000 births and is caused by having three copies of chromosome 13 instead of two. Babies with this condition have severe structural brain abnormalities, cleft lip, cleft palate, eye abnormalities, heart defect, and due to the severity of the condition rarely live beyond the first few weeks of life. A small percentage of children with this trisomy will survive their first year but are all severely developmentally delayed and require multiple organ system support.

Support Organization for Trisomy provides resources for expectant parents, sibling support, and grief resources for families of children with Trisomy 18 or Trisomy 21.

Genetic counseling resources

CHOC genetic counselors are available to meet with families expecting a child with a genetic condition. “Parents may need time to grieve the loss of the child they thought they would have, and prepare themselves for a different parenting journey than they originally expected,” says Leydiker.

Genetic counseling appointments are not limited only to parents, but are open to family and friends who may have questions about their soon-to-be family member’s condition, or want to learn more.

“A genetic counselor’s role is to provide information and support to parents during what can be a confusing and challenging time,” explains Leydiker. “We try to meet parents where they are emotionally, and provide support and resources in a safe, non-judgmental environment.

“As part of our counseling sessions, we often share a poem with parents called ‘Welcome to Holland’ that tells the story of someone who expected their vacation to take them to Italy, a place they had long dreamed of going. But the plane drops them off in Holland, which is just as beautiful, but very different than what they expected.”

To make an appointment with a genetic counselor, visit the National Society of Genetic Counselors website and select the “Find a Genetic Counselor” tool to find genetic counselors and genetics clinics in your area.

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Neurofibromatosis Type 1: What Parents Should Know

Many children can be born with or develop one or more birth marks that can vary in size, color and shape, but do not usually pose any health risk. However, a certain number of darker spots (café au lait macules) or freckles on skin not exposed to the sun can often be the first indication of a genetic condition called neurofibromatosis type 1 (NF1).

NF1 is the most common neurological disorder caused by a change (or mutation) in a single gene, occurring in one in every 3,000 children. The majority of these children do very well, have happy and healthy lives and may not have major skin issues, developmental disabilities or other neurological issues, says Dr. Neda Zadeh a CHOC medical geneticist and associate director of the Molecular Diagnostic Laboratory at Genetics Center.

Zadeh, Neda

“Most of the time, NF1 can occur for the first time in a child due to a random genetic change at the time of conception, and is not inherited from a parent,” explains Dr. Zadeh. “It is important for parents to realize that this condition is not the result of anything an expectant mother did or did not do during her pregnancy. In about one-third of patients, we often will see that one of the parents also has NF1 and may not even realize it.”

In order to meet criteria for an NF1 diagnosis, patients must meet two of the following criteria established by the National Institutes of Health (NIH), summarized below:

  • Six or more café-au-lait macules of a specific measured diameter
  • Two or more neurofibromas or one plexiform neurofibroma
  • Freckling in the axillary or inguinal regions
  • Optic glioma
  • Two or more Lisch nodules on dilated eye exam
  • A distinctive bony lesion
  • A first-degree relative (parent, sibling, or offspring) with a known diagnosis of NF1.

The NIH criteria are extremely accurate in adults and children over the age of 5 years.  Often if children are younger than 5 at the first evaluation, he or she may not yet have met the above criteria, but may do so after they reach school age. For this reason, visiting a geneticist on a regular basis is important in order to monitor and care for the patient.  Also, in certain cases in which a diagnosis is not completely clear, or there is concern for a different diagnosis, genetic testing is available and usually coordinated after genetic counseling occurs.

If you are concerned that your child may have NF1, or there is a family history of this genetic condition, speak with your pediatrician, who will perform an evaluation and may refer you to a geneticist for further examination and information.

“Parents should be aware that 10 percent of adults may have one or two café au lait macules, which are simply birthmarks and no underlying genetic issue,” says Zadeh.

Neurofibromatosis type 2 (NF2) sounds very similar to NF1 in name, but is a completely separate disorder, and is even more rare than NF1, occurring in one in every 25,000 people worldwide. NF1 and NF2 are completely different conditions, caused by genes on different chromosomes, so having a child with NF1 does not mean they are predisposed to NF2, and vice versa.

Children with NF1 may require care from multiple specialists including neurosurgery, neurology, oncology and orthopaedics, but should be seen at least annually by a geneticist.

“Children with NF1 should be under the care of a geneticist, who can help coordinate care and management of NF1 patients,” says Zadeh. “We also can provide information regarding the possibility to have further children in the family with NF1 and referrals to complete genetic counseling.”

CHOC’s Neurofibromatosis Program has been treating children with NF1 for more than 30 years and annually treats at least 150 children with NF1. The clinic was recently recognized by the Children’s Tumor Foundation as a Neurofibromatosis Affiliate Clinic, recognizing the program for having all the necessary specialists needed in order to provide comprehensive care to even the most complicated and rare issues that can be seen in association with NF1. This special program is nationally recognized and CHOC specialists are currently involved in cutting-edge clinical trials that are not available at many pediatric centers.

Learn more about the genetics program at CHOC.

Preventing & Screening For Birth Defects

In honor of Birth Defects Prevention Month, we spoke to Dr. Neda  Zadeh, a CHOC geneticist and the associate director of the Molecular Diagnostic Laboratory at Genetics Center.  Dr.  Zadeh specializes in caring for patients with developmental disabilities, genetic disorders and birth defects.

Zadeh, Neda

Q: What can parents do to prevent birth defects?

A: The cause of most birth defects is not well known.  Many are the result of a combination of genes and the environment.  Therefore the occurrence of a birth defect is not due to anything a parent did or did not do during the pregnancy.

The occurrence of certain types of birth defects involving the spine (spina bifida) can be reduced in a certain population of women who may have had a prior child with a neural tube defect. Most prenatal vitamins include 400-800 micrograms of folic acid, but a mother who has a prior child with spina bifida can be prescribed an increased dose of 4 mg per day, in addition to her prenatal vitamins.

Q: What screening can be done to detect birth defects before the baby arrives?

A: All pregnant women under 35 years of age and without any prior family history of a birth defect or genetic condition are offered prenatal screening  through their obstetrician’s office, to detect a fetal chromosome abnormality and/or birth defects.  Pregnant women over 35 years of age, or those with a prior child with a birth defect, or family history of a genetic condition; are recommended to seek genetic counseling to discuss both prenatal screening as well as prenatal diagnostic tests that are available.  During the genetic counseling visit, prior medical history for the couple is obtained as well as a three- generation family history. Other factors discussed include conditions that run in the family or those that could be more prevalent in certain ethnic groups to determine if any carrier testing is indicated.

Prenatal screening tests typically involve a sample of the mother’s blood at particular times during the pregnancy and are designed to detect specific birth defects and chromosome abnormalities. Part of the screening includes a special ultrasound performed during the first trimester, which only measures the back of the fetus’ neck (nuchal translucency).  If this measurement is enlarged, it may indicate a fetal organ defect, a possible fetal chromosome abnormality, or single gene disorder.  Around four to five months of pregnancy, a detailed ultrasound is performed that examines the entire fetus and is geared towards detecting any anomalies or birth defects.  Genetic counseling is offered in the event that a prenatal ultrasound reveals an abnormality, in order to provide further information to the couple.

Identifying a birth defect or chromosome abnormality prenatally is often advantageous to parents, so they’re not surprised when the baby is born.  Geneticists and genetic counselors can provide specific genetic counseling and additional support to expectant parents, including connecting them to a birthing center that has appropriately trained specialists who can specially care for the baby when it is born. Some centers also like to meet with the couple prior to their baby’s delivery to have a birthing plan in place, so that the couple feels comfortable and knows what to expect.

Not all genetic conditions or birth defects are diagnosed before a baby is born.  Some birth defects and genetic syndromes may not be diagnosed until childhood. Children with developmental delay or unique features may be referred to a geneticist for a comprehensive evaluation in order to determine if there is an underlying genetic condition.  Knowledge of an underlying genetic diagnosis is important, as it aids in providing better and more specific care to the child.

Q: How do birth defects affect the child’s family?

A: When a birth defect is detected during pregnancy, parents can experience emotional effects right away. Fear of the unknown can make it hard to enjoy the pregnancy. This is why it’s helpful to schedule follow-up visits with a provider, who are experts on their baby’s condition and can explain the diagnosis again, and answer any questions.  It may take several visits before parents feel comfortable in their understanding of the information being provided.

Parents should be connected to educational and support services upon diagnosis. In addition to connecting parents with resources in the community, including support groups, pediatricians can also make referrals to a CHOC geneticist, who can provide additional information and support.