Living with juvenile arthritis: Mackenzie’s story

The first 11 months of Mackenzie’s life were like most other children. But as she was on the cusp of learning to walk, her parents Danielle and Victor noticed that she used her baby walker with a bit of a gimp.

They took her to urgent care, where a doctor ordered X-rays and noticed she was favoring her left leg. He suspected a toddler fracture—a hairline crack in the shin bone, about which not a lot can be done, and common among wobbly toddlers—and sent them home.

Journey towards a surprise diagnosis

Wanting more peace of mind, Danielle and Victor followed up with Mac’s pediatrician who referred them to an orthopedist, a doctor who specializes in bones, joints and nerves. That specialist was able to rule out the toddler fracture, but suspected Mac’s issue may be joint-related, and referred her to a pediatric rheumatologist, a doctor who specializes in the swelling and pain in muscles and joints.

“As a parent, you are your child’s advocate,” says Danielle. “Even with the right team and resources, there is still effort on the parent’s part.”

By that time, Mac had lost range of motion and could no longer straighten her leg.

“It’s terrifying when your kid has a health issue, especially when they are too young to tell you what hurts, or what’s wrong,” Danielle says.

Thankfully, the pediatric rheumatologist they met with at CHOC was able to provide a definitive diagnosis, and quickly. After blood work and a physical examination, Mac was diagnosed with an oligoarticular juvenile idiopathic arthritis (JIA). This is the most common form of juvenile arthritis, and usually affects toddlers’ knees. JIA is an inflammatory condition that develops when the immune system’s normal regulations don’t work perfectly, and inflammation occurs in the tissues surrounding joints. This results in swelling, stiffness, pain and limited movement.

“When we got to CHOC, we were so worried, but the doctor pointed us in the right direction and alleviated our fears,” Danielle recalls.

Although arthritis affects nearly 300,000 kids and teens in the U.S., it’s commonly thought of as an ailment that only affects grown-ups.

“At first, I didn’t tell anyone that Mac had arthritis. It wasn’t something that I put out there. It wasn’t that I was embarrassed, but I was scared and didn’t love talking about it,” Danielle recalls. “But then I had an epiphany—I wasn’t going to help her or anyone else by not talking about it. I needed to raise awareness that it affects infants and kids, too.”

Mac, 14 months old at that point, underwent a corticosteroid injection. These injections are an effective treatment for oligoarticular arthritis, and work by decreasing inflammation in the joint into which it is injected. Because she was so young—and fidgety like most kids her age— she was sedated for the injection. She also underwent serial casting, a process where clinicians straighten the knee while a child’s cast is drying. The temporary cast is removed after a few days and then a new cast is applied with the knee a bit straighter each time.

toddler-juvenile-arthritis-cast

“Mac has been brave since day one,” Danielle says. “The machine used to cut off her casts was loud, but my kid is afraid of nothing.”

These injections are kept to a minimum to reduce problems that can come with prolonged steroid use, like joint damage.

Juvenile arthritis treatment and remission

JIA often goes into remission, which can last for months, years or even a person’s lifetime. Mac’s JIA went into remission for two years before her parents noticed that she was having trouble walking.

Her original rheumatologist had relocated out of state, so her care was transferred to pediatric rheumatologist Dr. Andrew Shulman.

“We fell in love with Dr. Shulman the first time we met him,” Danielle says. “He calmed our fears. He made us believe we could get through this. He explained things in a way we could understand. I don’t think we could be in better hands.”

Mac and Dr. Shulman hit it off right away. In part, because she loved his signature bow-ties so much.

Three-year-old Mac underwent another steroid injection after her flare-up at age 3. Since her muscles were weak, she also underwent physical therapy to gain back strength. This triggered another two years of remission.

A few months before her sixth birthday, Mac started complaining of pain in her right ankle. Previously, her arthritis had only affected her right knee. This flare-up required two corticosteroid injections in her knee and ankle, which so far have re-induced remission.

“The easier thing about having a 6-year-old with arthritis than a 1-year-old with arthritis is that she is so much more articulate at this age,” Danielle says. “I can ask if she hurts because she fell on the playground at school, and she can help me rule that out as a potential source of pain. Now that she’s older, it’s easier to identify pain as an arthritis flare-up rather than something else.”

When she experiences a rare arthritis flare-up, her first line of dense involves naproxen, an over-the-counter anti-inflammatory drug. If more consistent flare-ups become a reality, or if additional joints start suffering, Mac may need more regular medication, in the form of Humira, a bi-weekly at-home injection that protects against over-active inflammation pathways in the immune system.

“Anytime we have a flare-up or questions, Dr. Shulman is always available to us,” Danielle says. “Having a child in pain is terrifying to a parent, and to have your doctor call you back the same day is nice.”

It’s hard to predict if arthritis in children will go away on its own or become a lifelong ailment.

choc-juvenile-arthritis-patient

“We may have had her last flare-up and she might be fine for the rest of her life. Or, her future could be systemic medication and joint replacements; I have no idea,” Danielle says. “Raising awareness and funds for research and a cure, that’s what makes me feel better about it.”

Mac’s family and friends are now active with the local chapter of the Arthritis Foundation.

Day-to-day life for a child with JIA

Mac’s day-to-day life is much the same as any other six-year-old. She loves swimming lessons, play dates, gymnastics and ballet. She’s also fluent in Mandarin, loves science and math, and is taking Spanish lessons at summer camp.

Her love for staying active is key to her overall health; muscle strength and endurance can help reduce joint pain and fatigue.

“We don’t want Mac to grow up with the stigma that there is something wrong with her,” Danielle says. “We tell her that she can do anything she sets her mind to.”

Maintenance

Mac sees Dr. Shulman every three months for a check-up. She occasionally wakes up feeling stiff, but a special heating pad to warm up her joints helps.

Since children with JIA can experience uveitis, a form of eye inflammation, Mac has regular check-ups with a pediatric ophthalmologist for monitoring.

Even with doctor’s appointments and occasional flare-ups, six-year-old Mac has no fear of doctors or hospitals.

juvenile-arthritis-patient-at-choc

“The people and environment at CHOC are so inviting. The colors, the calming effects, the videos and books and toys in the waiting rooms—everything makes it easier on the kids, and the parents, too,” Danielle says. “Everyone from the people in Dr. Shulman’s office to the team who draws blood, is amazing. They give Mac toys to distract her from the poke, and that raises her comfort level.”

Mac’s family, based in Orange County, feels lucky to have their care team so close to home.

“Some people have to drive long distances to see a qualified rheumatologist, and we are lucky to have our team so close to home,” Danielle says.

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Living with Arthritis: Carson’s Story

Seventeen-year-old Carson comes from a close-knit family of athletes and had been playing baseball for a decade when consistent, unexplained pain left his family stumped and looking for answers. Countless physical therapy and orthopedic appointments, plus endless X-rays, filled the next 18 months. When an MRI of his spine lead the radiologist reading his images to assume they were from a middle-aged person who’d played a lifetime of contact sports, rather than a 15-year-old boy, finally the family had a clue that Carson’s pain was not just an overuse injury.

At the time, pre-diagnosis, he was traveling a couple hours roundtrip every few days for orthopedic appointments related to wrist, elbow and shoulder pain.

He was ultimately referred to Dr. Andrew Shulman, a CHOC Children’s pediatric rheumatologist, and finally Carson’s family had the answers they’d been seeking for years. Carson was diagnosed with Juvenile Ankylosing Spondylitis, a form of arthritis that affects the spine and sites where muscles, tendons and ligaments attach to bones in the body. He was also diagnosed with Pain Amplification Syndrome, a condition in which patients develop abnormal pain sensitivity. The nervous system processes normal sensations from movement and environmental experience as pain signals. Carson’s family had never heard of Pain Amplification Syndrome before he was diagnosed.

“Dr. Shulman is such a powerful presence in my life,” says Carson. “The way that he explains things, he makes everything so much easier to understand. He relates directly to me.”

juvenile arthritis

Looking back as far as eighth grade, a lot of Carson’s issues were tied to this condition. He had tried everything from water therapy to hypnosis, but nothing was working. Then Dr. Shulman recommended acupuncture and Carson’s mom Andrea says Ruth McCarty, director of Chinese medicine and acupuncture at CHOC, was ‘unbelievable in getting Carson to a good place.’

Carson’s care team also includes physical therapist Robin Beauregard and pediatric gastroenterologist Dr. Mitchell Katz.

Carson’s family is also a key component of his care team.

“Dealing with these diagnoses is a team effort,” says Carson. “My dad carries me up the stairs when my Pain Amplification Syndrome flares up and I can’t walk, and I squeeze his hand during Humira injections. My mom helps me mentally, and she’s made this so much easier to manage. Dr. Shulman has given us a path forward.”

Despite still making his school’s baseball team while fighting a dual diagnosis, Carson could no longer cope with the week or two of pain that came with playing a single inning. Now he works out daily in a gym whether he’s experiencing a flare up or not, which helps with both diagnoses. To fill the void that competitive baseball left, he often plays catch with his friends and former teammates.

“Carson’s journey with arthritis is a powerful one. It speaks to the importance of diagnosing arthritis, and the outcomes we can achieve with therapy,” says Dr. Shulman. “His experience shows that multi-disciplinary care has been transformative.”

Learn more about rheumatology services at CHOC Children’s.

Related posts:

Chronic Inflammation and What it Means in a Child

boy with hurt kneeWHAT COULD IT BE?
“Chronic inflammation can be manifest in many ways,” says Dr. Boon. “Signs parents might see in their child include fatigue, fever, rash, joint pain or swelling, sores in their mouth, chest pains and abdominal pain. Start with your pediatrician. Make sure infection is not the cause. The primary care doctor can run some lab tests and refer you to a specialist as necessary. These symptoms are not specific, but can be early signs of chronic inflammation, including chronic forms of juvenile arthritis, lupus, inflammation of the skin and muscles, or other forms of vasculitis (inflammation that affects the blood vessels). There are also forms of inflammation that occur after a child has an infection, which may not be chronic or lifelong.”

TREATMENT OPTIONS
To help with pain and swelling, children can take medications like ibuprofen or naprosyn, says Dr. Boon. Children with only a few joints affected but with persistent joint swelling may have a steroid injected to the joint, possibly as a one-time treatment because it’s long lasting, it may be the only treatment that is needed. Children with many joints affected, including the small joints of the hand, are often treated with systemic medications taken orally or injected just under the skin; the injections can be once a week to every two weeks, says Dr. Boon. “We also help children deal with their pain by using heat and cold packs and occupational and
physical therapy.”

THE EFFECT ON GROWTH
If left untreated, chronic inflammation in children can cause fatigue, anemia and muscle aches, among other health problems. Children might feel achy and feel like they have the flu all the time. It can also affect a child’s growth rate. “If growth is stunted, the child may have to take growth hormone supplements to help them grow,” says Dr. Boon.

FAST FACTS

  • Number of people in the U.S. with some form of arthritis or chronic joint pain: Almost 70 million
  • Annual cost to the U.S. Economy for arthritis and related conditions, including juvenile arthritis: Almost $128 billion
  • Prevalence of children in Orange County with pediatric arthritis: 5-10 in 10,000

View the full feature on Kids and Chronic Inflammation

Dr. Boon
Dr. Sheryl J. Boon
CHOC Pediatric
Rheumatologist

PHYSICIAN FOCUS: DR. SHERYL BOON

Dr. Boon is the chief of the Rheumatology Division at CHOC Children’s. She completed her pediatric rheumatology fellowship and pediatric residency training at CHOC and also served as chief resident of the pediatric residency training program. In addition to her medical degree, Dr. Boon earned a master’s degree in public health nutrition from UCLA. Dr. Boon has special interests in lupus, vasculitis and pulmonary issues in patients with autoimmune disease.

Dr. Boon’s philosophy of care: “We try to deliver excellent, comprehensive care to the children who have autoimmune diseases in Orange County and the outlying areas.”

EDUCATION:
University of California, Irvine College of Medicine

BOARD CERTIFICATIONS:
Pediatric Rheumatology

More about Dr. Boon

This article was featured in the Orange County Register on May 27, 2014, and was written by Amy Bentley.

Living with Juvenile Arthritis

While it can’t be cured, juvenile arthritis can be well managed with long-term medications and therapy, and affected children can live normal lives, a CHOC Children’s rheumatologist says.

“There are such good medications available and there are some new biologic medications that are targeted and effective for treating most forms of arthritis in children,” says Dr. Sheryl J. Boon, division chief of rheumatology at CHOC. “The outlook now for kids with arthritis is much better than it was 20 years ago.”

Children with juvenile arthritis can be treated by their pediatrician or a specialist. Treatment goals are to control inflammation and swelling, relieve pain, prevent joint damage and help the child to move and function as much as possible, Dr. Boon says.

And there’s no reason that children with a form of juvenile arthritis can’t play sports and do all those activities other kids enjoy, she adds.

In fact, parents should try to make life as normal as possible for their child with juvenile arthritis, Dr. Boon advises. While they should try avoiding activities that cause extra stress on the joints, families shouldn’t dwell on the disease.

“We want the kids to feel like they are normal,” Dr. Boon says. “We don’t want them to feel disabled. Most of our kids take the normal P.E. classes and can do everything all the other kids can do.”

CHOC uses a team approach to treat children with arthritis, and includes care from physicians, nurses, a social worker, physical therapist and occupational therapist, Dr. Boon says.

“The social worker meets with all the family members and helps them cope with the chronic illness and any school-related issues, like making sure the kids have extra time between classes if they need it or no physical education if they need it,” she says.

The goal is to keep children active with arthritis.

“We can send the children to get physical and occupational therapy so they can get exercises and get moving again,” Dr. Boon says.

Related articles:

  • Living with juvenile arthritis: Mackenzie’s story
    The first 11 months of Mackenzie’s life were like most other children. But as she was on the cusp of learning to walk, her parents Danielle and Victor noticed that ...
  • Living with Arthritis: Carson’s Story
    Seventeen-year-old Carson comes from a close-knit family of athletes and had been playing baseball for a decade when consistent, unexplained pain left his family stumped and looking for answers. Countless ...
  • Chronic Inflammation and What it Means in a Child
    “Chronic inflammation can be manifest in many ways,” says Dr. Boon. “Signs parents might see in their child include fatigue, fever, rash, joint pain or swelling, sores in their mouth, ...

Growing Pains in Kids

boy in doctors officeARE “GROWING PAINS” REAL

“Growing pains are real because many children experience musculoskeletal pain,” says Dr. Andrew Shulman, a CHOC Children’s Pediatric Rheumatologist (Arthritis Specialist). “It’s a very common symptom but not a good name because we don’t think it’s related to growth. Typically, you will have a toddler or school-age child who in the evening after an active day or prolonged walking will complain of pain often in the ankles or legs. It can be in the calves, thighs or behind the knees. Sometimes the child will wake up in the middle of the night in pain, sometimes in tears. Usually the pain responds to massage, which the child finds soothing.”

CAUSES AND JOINT PROTECTION
“We think the most common cause for this type of musculoskeletal pain is flexible joints. This means the ligaments that hold the bones together at the joint are a little bit loose. They can flex and extend through a longer range of motion. Repetitive movement at the extremes of range of motion appears to cause strain and discomfort,” says Dr. Shulman, adding that the pain can also have orthopedic causes for which a child can be evaluated. “It helps if these kids stay active so they can get stronger. Strengthening the muscles that support the joints provides protection for the joints.”

ARTHRITIS IN CHILDREN
“Kids do get arthritis. It’s not a common condition but it is certainly not rare,” says Dr. Shulman. According to the Arthritis Foundation:

  • Arthritis is a complex family of musculoskeletal disorders consisting of more than 100 different conditions that affect joints, bones, muscles, cartilage and other connective tissues, hampering or halting physical movement.
  • Juvenile arthritis is an umbrella term used to describe the many autoimmune and inflammatory conditions that can develop in children ages 16 and younger.
  • The cause for most forms of juvenile arthritis remains unknown.

Fast Facts:

  • Number of children underage 18 affected by pediatric arthritis and rheumatologic conditions in the U.S.: 294,000
  • Number of children worldwide with juvenile arthritis; most are probably undiagnosed: 1.7-8.4 million
  • Annual cost to the U.S. economy for arthritis and related conditions, including juvenile arthritis: Almost $128 billion

View the full feature on Kids and Growing Pains

Dr. Andrew Shulman
Dr. Andrew Shulman
Arthritis Specialist
and Rheumatologist

PHYSICIAN FOCUS: DR. ANDREW SHULMAN

Dr. Shulman specializes in the diagnosis and management of pediatric autoimmune and inflammatory conditions. As a pediatric rheumatologist, Dr. Shulman cares for patients with juvenile arthritis, lupus and other autoinflammatory diseases. He also has expertise in treating patients with Pain Amplification Syndrome, a condition where a patient has abnormal pain sensitivity. Dr. Shulman completed his residency in Pediatrics and fellowship in Pediatric Rheumatology at Boston Children’s Hospital and the University of Texas Southwestern Medical Center in Dallas.

Dr. Shulman’s philosophy of care: “My philosophy of care is to provide a multidisciplinary patient and family centered approach in the evaluation of musculoskeletal symptoms and the treatment of autoimmune and inflammatory conditions.”

EDUCATION:
University of Texas Southwestern Medical Center, Dallas, Texas

BOARD CERTIFICATIONS:
Pediatric Rheumatology

More about Dr. Shulman

This article was featured in the Orange County Register on May 27, 2014, and was written by Amy Bentley.