No one knows what causes autoimmune or autoinflammatory diseases like types of juvenile arthritis. There are three types of juvenile idiopathic arthritis which affect around 300,000 children in the United States:
- Oligoarticular, which affects up to four joints. Symptoms include things like pain, stiffness, and swelling in the joints affected, which are commonly the knees, hips, and wrists. Uveitis, or inflammation in the eye, can also occur - especially if the child is ANA positive.
- Polyarticular, which affects five or more joints. The symptoms are much the same as above, with smaller joints like those in the hands more affected than in oligo. Low-grade fevers or rheumatoid nodules also tend to pop up in this type more often.
- Systemic, or Still's Disease. Symptoms include those above along with rashes and low to high grade fevers. The higher grade tends to occur at onset or during a flare while the lower grade occurs almost daily. This can happen several times a day. The biggest differentiation here is that systemic tends to attack the organs more than the former types of JIA. Only 10% of JIA cases are systemic and, sadly, these kids are most likely to deal with severe complications of their illness.
With these types, traditional blood tests for autoimmune diseases will likely come back negative (though poly often has some with positive rheumatoid factors or ANA). Diagnosis is often a mix between exclusion, lab results that do come back, and examinations of the child.
When I was diagnosed, I had: high AST (SGOT), low CO2 (poor lung capacity), low glucose, low urea nitrogen, high globulin, high MCH, low MVP, extremely high sedimentation rate, low red blood cell count, high phosphorus, high alkalines, and high LDH. I was also losing proteins quickly. With all of this going on, I was misdiagnosed with leukemia and given six weeks to live! Thankfully we found the right diagnosis.
As awful as these three forms are, there are even more.
- Juvenile Dermatomyositis causes muscle weakness and red-purple rashes that are often seen on the face and joints. The muscle weakness usually affects the core (back and stomach), shoulders, and neck. It can also cause vocal issues, painful calcium lumps under the skin, and contractures - where your muscles get shorter and your joints basically get stuck in one bent position.
- Juvenile Systemic Lupus Erthyematosus (SLE) is the most common type of lupus to affect children, with girls being affected most often. Lupus can attack every organ and system in the body, including the Central Nervous System. Symptoms include fatigue, mouth sores, joint pain and swelling, rashes and fevers, hair loss, and Raynaud's Phenomenon.
- Juvenile Scleroderma can be broken down into two types – localized, which primarily affects the skin and the musculoskeletal system and is more common in children, or systemic, which affects the entire body causing damage to the internal organs. The latter can be very severe and even fatal. Symptoms are changes in the way skin looks, hard and oval shaped patches of skin, or lines of streaks of thickened skin. Topical medications to lessen swelling or increase moisture are often prescribed, only amping up to steroids and biologics when the disease is near to or attacking a joint so as to prevent damage.
- Enthesitis-related/Spondyloarthritis causes tenderness (enthesitis) in the areas where bones meet with connective tissue like tendons or ligaments. Boys between the ages of 8-15 are the most commonly affected, with most people testing positive for the HLA-B27 gene. Symptoms include joint pain and inflammation in the hips, knees, spine, and feet specifically – so lower back pain or swelling in the arms and legs can happen. Fatigue, osteoporosis, and involvement of the eyes, heart, GI system, and skin also occur. With this diagnosis, you might have Ankylosing Spondylitis, Reactive Arthritis, Psoriatic Arthritis, or Enteropathic Arthritis which goes along with Inflammatory Bowel Disease.
- Juvenile Psoriatic Arthritis is kind of what it sounds like – JIA and Psoriasis that go hand in hand. Often the onset of the two isn’t at the same time. Symptoms include arthritis in the joints and the lovely Psoriasis scale-like rash normally affecting the ears, near eyes, elbows, knees, scalp, and stomach. Your feet can also be affected which is super uncomfortable.
- Uveitis is inflammation affecting the eye. Its name literally means swelling (itis) of the uvea, or the area consisting of the iris, choroid, and ciliary body. Basically that means it’s the area of the eye with pigment, which also happens to contain many of the blood vessels in the eye. Unfortunately, this can lead to poor vision and even blindness. Symptoms include vision problems like blurred vision, floaters, redness, sensitivity to light, and eye pain. There are a number of tests an eye doctor can do to see inflammation, past and present, in the eye, so it’s important to be seen every so often. This is especially true for those with a positive ANA or a history of uveitis.
- Kawasaki Disease involves inflammation of the blood vessels, especially those in and near the heart. Children of Asian descent and boys are more affected. Symptoms include high fever, runny nose, rashes, swollen lymph nodes, peeling skin, joint pain, red hands and feet, and swelling. The good news is that this is generally an acute disorder of very young children (0-2 or so). With gamma globulin administered via IV, the child is often mostly recovered within a few days. Starting treatment right away is important as it can help prevent issues with the heart later on in life. The Arthritis Foundation estimates that 1 in 4 children could develop worsening issues with their heart despite receiving the gamma globulin treatment. Sadly, about 1 in 100 with this rare disease do die as a result of the heart problems it causes. It’s important to see a cardiologist at least every two years, if not more often, for the rest of your life to follow up and check in.
- Polymyositis is a condition that causes muscle weakness and pain primarily in the legs and shoulders. It can also cause fatigue, fevers, joint pain, problems with the lungs, weight loss, and Raynaud's Phenomenon.
- Mixed Connective Tissue Disease (MCTD) is a combination of lupus, scleroderma, and polymyositis. The onset of these diseases doesn't always happen at the same time. It can be hard to diagnose because of the multiple overlapping symptoms, but a blood test measuring the anti-U1-RNP antibody can help.
- Fibromyalgia has over 60 symptoms associated with it like memory problems (brain fog), chronic pain all over, problems sleeping, anxiety & depression, headaches or migraines, Irritable Bowel Syndrome, tingling or burning, and more. Females or those who have been through traumatic events are affected more often. It's often a concurring disease, so many people with other types of autoimmune arthritis wind up with fibro as well. Many of the treatments can be hit or miss.
- Raynaud's Phenomenon is a disease that affects your circulation in smaller and more vulnerable areas of the body to the point that they will change color. This most often happens with cold temperatures and in the hands and feet. However, this can happen with the ears, nose, nipples, lips, and anything else that protrudes more from the body. It can also happen with heat. These areas of the body turn colors ranging from white to blue/purple to red. While this disease isn't severe for most, some people experience blisters or sores due to a lack of blood flow that can be serious enough to cause loss of those areas. Calcium channel blockers can help to lessen the disease, but are not always very effective. Maintaining a comfortable temperature and keep extremities warm or cold is key in managing this disease.
- Undifferentiated means that they cannot definitively figure out the type of arthritis a child has.
With these added into statistics, the number of children affected jumps up to around an estimated 320,000.
While there wasn't much around when I was first diagnosed, there are many medications out there to treat JA now. Here are some of the most commonly used medications:
- Steroids like prednisone are helpful for immediate relief of swelling but shouldn't be used long term, except in special cases like with those with SJIA or other system attacking forms. Long term complications can include diabetes and adrenal gland failure, when that gland becomes so accustomed to the outside supply of cortisol in prednisone that it stops producing that on its own. This can actually lead to coma and death if you don't take the steroids then. There are also concerns with weight gain and cardiovascular effects.
- NSAIDs like aspirin or naproxen are incredibly helpful for lower inflammation throughout the body. However, this comes at a price - these medications can affect the stomach and liver both, causing pain and discomfort. Make sure to utilize a stomach protector like omeprazole.
The following medications are often called DMARDs, or disease-modifying anti-rheumatic drugs.
- Methotrexate is actually a chemotherapy drug that assists RA and other autoimmune arthritis patients as well. In autoimmune diseases it's usually taken once a week and the dose is much smaller than a cancer patient would receive. Since it utilizes folic acid in your body to work, you have to take a folic acid supplement when on this medication. This can be prescribed as pills or injections, which are much easier on the stomach. It can also cause sensitivity to the sun. If you're sexually active, you have to remember to use protection as methotrexate is also used at times as an abortion inducing medication. It can cause severe birth defects when not in high enough doses to cause abortion. Six months after stopping the medication, you can start trying for a child. Side effects can include major fatigue, loss of appetite, hair loss, and more.
- Rituxan (rituximab) is an IV that is used to treat cancer as well. There isn't much known about how it can affect pregnancy, so it's recommended that you take birth control precautions for up to a year after treatment. Common side effects include feeling like you have a cold, nausea, diarrhea, muscle pain, and swelling in your hands and feet.
- Arava (leflunomide) can affect pregnancy as well. Since the medication stays in the body for two years, it's important to keep up with birth control during that time, though you can get a medication from your doctor to speed up this process. Common side effects of this pill include back pain, diarrhea, dizziness, hair loss, headache, nausea, weight loss, and fatigue or weakness.
- Enbrel (Etanercept) is an anti tumor necrosis factor alpha drug. It suppresses that specific type of inflammation in the body (as does Humira, Cimzia, and Simponi) to assist in disease management. Enbrel can be used up to twice a week or as little as once a month depending on your body's reaction to it. it comes in a syringe or an auto-inject pen which really really hurts. If you're on an auto-inject, take the medication out of the fridge and let it warm up for 15-30 minutes while you ice the injection spot (this is true for Humira as well). Side effects include things like chills, fever, sore throat, an overall flu-like feeling, and headaches.
- Humira (adalimumab) can be given in a number of ways. For autoimmune arthritis types like JA, it ranges from once a week to once a month. Side effects include things like an overall flu-like feeling, headache, nausea, rash, or injection site issues.
- Cimzia (certolizumab pegol) comes either as a pre-filled syringe designed by OXO to be hand friendly or as a powder you have to mix up. Common side effects include stuffy nose, stomach pain, diarrhea or constipation, and injection site reactions.
- Simponi (golimumab) can be given via IV or pre-filled syringe, usually every 2-4 weeks. Common side effects include feeling like you have a cold or flu, cold sores, or injection site reactions.
- Orencia (abatacept) can be given via IV or injection, which can be either a pre-filled syringe (again designed by the great people at OXO) or as a powder you have to mix up. you usually take this anywhere from every week to once a month. Common side effects include feeling like you have a cold, headache, fever, nausea, diarrhea, and stomach pain.
- Remicade (infliximab) is given via an IV infusion, which means you have to head to the hospital for treatment. Common side effects are stuffy nose, headache, stomach pain, skin rash or flushing of the skin.
- Actemra (tocilizumab) is one of the medications officially approved to treat SJIA. This can be given via an IV or injection, usually every 2-4 weeks. Common side effects are runny or stuffy nose, headache, dizziness, high blood pressure, or injection site reactions.
- Kineret (anakinra) is a daily injection specifically approved to treat SJIA as well. The biggest side effect is an injection site reaction which can improve over a few weeks of use. Others include nausea, stomach pain, and headache.
- Ilaris (canakinumab) is a relatively new SJIA treatment. This is an injection given once a month. Common side effects include injection site reactions, nausea, diarrhea, headache, dizziness, and feeling like you have a cold or the flu.
- Sulfasalazine is a daily pill. Side effects can include nausea, vomiting, upset stomach, headache, loss of appetite, and a lower sperm count.
- Plaquenil (hydroxychloroquine) is an anti-malarial pill that actually helps with autoimmune arthritis as well. It can be given anywhere from twice a day to once a week, depending on the dose. It can be hard on the stomach, so taking it with food or milk is recommended. It can cause headache, tinnitus, nausea, dizziness, vomiting, stomach pain, loss of appetite. skin rash, hair loss, and in very long term use issues with vision. You have to see the eye doctor at least once a year if not more to check your eyesight while on this drug.
- Xeljanz (tofacitinib) is a pill that is taken twice daily. Common side effects include headache, diarrhea, and feeling like you have a cold.
- Imuran (azathioprine) is a medication that is usually used for organ transplantation as it helps lower the immune system so it can't attack that new organ. It's a pill that can upset the stomach, so it's recommended that you take this with food. Nausea and vomiting are the most common side effects, but this drug can also very heavily increase your risk for cancer.
- Cyclosporine is another pill used for transplant patients. This should be used with prednisone just to be safe. Common side effects include acne, dizziness, headache, increased hair growth, diarrhea, nausea, feeling like you have a cold or the flu, vomiting, stomach pain, and insomnia.
- Cellcept (mycophenolate mofetil), like the last two, is for organ transplant patients. This can cause miscarriages or birth defects, so take precautions. It can be given as an injection or pill. This is one medication where there is a clear distinction between the brand name and generic in that they don't work in the body the same way. Make sure you fight for the one that will work best for you. Common side effects include nausea, vomiting, diarrhea, swelling in your feet, and high blood pressure.
Gold injections are sometimes used but are not common anymore in the United States.
Other medications can be used including narcotics to control pain.
Other medications can be used including narcotics to control pain.
Physical therapy is key to help keeping the joints not only working but stable. Since so many of these arthritis types can also affect muscles and other connective tissue, we have to be mindful of that while being physically active as well. Water therapy can be very helpful for some, but it is easy to overdo it in the pool as well.
Mental therapy is so important as well. These diseases bring up some very rough things, including facing a loss of dignity or your own mortality. It can be really heavy emotionally to handle all of this on top of being a normal child or teenager or even an adult.
Support from loved ones is HUGE. If you have someone acting like you can do something when you can't, that hurts. The same is true vice-versa. Family needs to be supportive and make sure that the child with JA feels comfortable and is taking medications properly, while not elevating them to a different status than any other children. Siblings can often wind up feeling very left out if this happens.