Children and Young People Get Rheumatic Diseases Too!
WOrld Young Rheumatic Disease Day (WORD Day)
It was the morning of our son’s 10th birthday. Our preparations were cut short when cries of distress from our youngest child—then almost two—brought me to his bed. I went to check on him and still remember that moment of confusion: Something was clearly wrong. I lifted him from his bed and tried standing him up, only to see him crumple up in pain on the floor. Always busy and on the go, running from the age of 10 months, this morning our youngest seemed quite unable to stand, never mind run or walk. What could possibly be wrong? We quickly undressed him and saw: both his knees had swelled to the size of tennis balls. Our 10 year old celebrated his birthday without us, and we headed to the hospital. Later that day in the hospital, all the tests were clear, and over the next few weeks his knees improved and went back to normal – until the next flare up. Knees, ankles, neck, fingers, jaw—any joint could suddenly become inflamed, sore and painful to use. Because his flare-ups were so sporadic, it took a while to receive a final diagnosis: our son has JIA, Juvenile Idiopathic Arthritis.
What are Pediatric Rheumatic Illnesses?
JIA belongs to a group of Pediatric Rheumatic Illnesses: rare chronic inflammatory conditions of the musculoskeletal system. JIA affects approximately 1 in 1,000 children. These illnesses range from the relatively common to the extremely rare, including: Juvenile Idiopathic Arthritis (JIA), of which there are several subtypes; Juvenile Systemic Lupus Erythematosus (jSLE); autoinflammatory disorders such as Familial Mediterranean Fever (FMF); Rheumatic fever, Kawasaki disease and more. Many of these illnesses are chronic, which means that they persist for many years or indefinitely and need to be managed to minimize their effect on the children’s quality of life.
Rheumatic disorders affect children in many ways. Some systemic disorders, such as SLE and the systemic subtype of JIA, severely impair children’s overall health and wellbeing. SLE, for example, causes damage to internal organs e.g. kidneys, heart and neurologic system. Others are more localized and primarily affect the joints or skin, causing pain and restricted joint movement, hampering daily activities and physical development.
How are they diagnosed?
Because they are so rare, pediatric rheumatologic disorders are often difficult to diagnose and are sometimes unknown to health care providers. This can cause a significant delay before a correct diagnosis is made. Some family physicians do not expect children to suffer from illnesses mostly associated with older people and consequently make erroneous diagnoses, attributing swelling and pain to unreported injuries, growing or psychosomatic pain. I recall the sad story of a young child who went to see an orthopedist with a sore swollen elbow. The doctor placed the child’s elbow in a cast, explaining that it must be fractured (though his mother insisted that her young child had not fallen). When no improvement was seen weeks later, the doctor recast the arm. Eventually the child was referred to a pediatric rheumatologist, who diagnosed JIA and began administering the correct anti-inflammatory treatment. Sadly, it took months to repair the damage done to the elbow by being placed in a cast. The most important treatment for inflamed joints is movement, to keep the joints from becoming fused, which can cause lifelong damage and disability. Another mother told me how she went from doctor to doctor seeking help for her young daughter who cried in pain and refused to walk, only to be accused by doctors of spoiling her daughter, who, they claimed, had nothing wrong with her and must have simply been seeking attention.
Who treats pediatric rheumatic illnesses?
Children must be referred to pediatric rheumatologists to receive optimal care. When it comes to pediatric illnesses, children are not just small adults. The arthritis which affects them is different from adult rheumatism. It needs different treatment, runs a different course and has different complications. One of the most severe complications to look out for in children suffering from JIA is uveitis, an inflammation of the eye which can lead to blindness. This complication does not occur in adults. A pediatric rheumatologist recently recounted the story of a young boy who had been erroneously diagnosed, and subsequently treated with intravenous antibiotics for almost a year to treat his painful swollen joints. By the time he was finally referred to the pediatric rheumatologist, one of his legs was almost immobile from the continued inflammation, and his eyesight in one eye was badly damaged by uveitis.
Another illness classified as a rheumatic disease is FMF (Familial Mediterranean Fever). This condition affects mostly people from around the Mediterranean. Symptoms include (but are not limited to) recurring fevers, joint pain, abdominal pain (due to inflammation of the stomach lining) and a (less common) characteristic rash. A young man, well beyond his childhood years, remarked to a pediatric rheumatologist after years of suffering: “I suffered all these years without knowing what was wrong, and not knowing that one of the world experts in my condition lived across the road from me!” Luckily, more and more doctors are becoming aware of these illnesses.
New medical opportunities for sick children
The last 25 years have opened many new treatment options for rheumatological patients. Previously, medicine had little to offer children, and many spent their childhood in pain, accumulating disabilities and misshapen joints. Just a year ago I spoke with a young woman who showed me her misshapen arm and fingers. She said to me that if she had to be sick, she wishes it would have been now, when medicine could actually help her and keep her joints in full mobility. Today, due to pediatric-focused medical research and the advent of biologic medicines, tested specifically on children, the majority of children who receive medical and other supportive treatment can reach symptomatic remission (but not cure), with little or no permanent damage.
Since damage to joints, muscles and tendons is cumulative, early diagnosis is crucial. Early detection usually provides a better prognosis, while delay, misdiagnosis and subsequent mistreatment can aggravate damage caused by the illness.
What can be done to help children with rheumatic disease?
First and foremost—awareness. If your child exhibits swollen joints, muscle weakness, rash, recurring fever that peaks in the evening, or complains of sore fingers or stiff joints, especially in the morning or after rest, don’t assume that he is acting up. Make certain that he sees his doctor, and if necessary is referred to a pediatric rheumatologist.
Secondly, if your child is already diagnosed with a rheumatological disorder, take full advantage of the excellent medical opportunities your child has to maintain his health. Make sure that your child takes his medicine on time and visit your child’s physiotherapist regularly and keep up with the prescribed exercises. Those exercises will keep your child strong, and make sure that his body has a chance to compensate and recover from the damages of the battle with the illness. Most importantly, don’t forget to take your child to see her doctors regularly—both the ophthalmologist (to rule out the possibility of newly developing uveitis), and the rheumatologist (to make sure the illness is properly managed, and no flare ups are taking place). Finally, remember that you are not alone. Reach out to parent organizations (see https://www.enca.org/) to get the support you need for living with a chronic illness in the house. Above all, remember: you are key to your child’s wellbeing and health!
If you are a teacher with a student who has a Pediatric Rheumatic Illnesses, make sure to speak with the child and his parents, to see if he is managing with his everyday tasks. He might have difficulty writing or carrying his bag. Many children with Pediatric Rheumatic Illnesses find that sitting still for a whole lesson leaves their joints stiff and sore, and they need to get up to stretch during class.
Spread the WORD
Because early diagnosis and treatment are so important, the European Society for Pediatric Rheumatologists, PReS and the European parent/patient association ENCA (www.ENCA.org) are jointly inaugurating WORD Day, “WOrld Young Rheumatic Disease Day”. The objectives of this day are to raise parental and professional awareness to these illnesses, by giving parents and doctors tools to recognize symptoms which require rheumatological attention.
Raising awareness of pediatric rheumatic diseases will help to aid the process of diagnosis, especially of rarer diseases. Information about these illnesses has been updated on a special site (EU project SHARE www.printo.it/pediatric-rheumatology).
International WORD Day will be an annual event that will take place on the 18th of March from 2019 onwards. It is up to us, parents, teachers and healthcare professionals to make sure that they get optimal care as early as possible to ensure that they have the best chance of leading a healthy full life, with minimum pain.
Tsipi Egert, email@example.com based on an article published in The Lancet Child & Adolescent Care, online Nov 23.https://www.sciencedirect.com/science/article/pii/S2352464218303742?via%3Dihub