In addition to blood tests, diagnostic tests that may be administered include biopsy, MRI (Magnetic Resonance Imaging), EMG (electromyograph), and Bone Density scans. MRI can be a visual indicator of muscle inflammation; EMG can reveal irregularities in the muscle tissue; Bone Density scans are used to measure whether there is any bone loss due to treatment with steroids.
3. What is the typical progression of JDMS?Most kids start by getting the skin rash, followed within weeks or months by progressively worsening muscle weakness. Since JDMS is so rare, it is frequently misdiagnosed as one kind of skin ailment or another (such as Eczema or Fifth Disease), then once muscle symptoms set in, as Muscular Dystrophy or other muscle disease. The speed of the progression is highly variable, sometimes with muscle symptoms never appearing at all or very gradually over the course of months, and sometimes going from normal to being unable to walk within days; usually, muscle symptoms appear weeks to months after the onset of the rash.
4. Do kids "outgrow" JDMS?Most kids diagnosed before puberty will eventually go into "permanent remission", a state where there are no clinical symptoms, no abnormal lab results, and no medication being given for some period of time (say, a year). Most of these go on to lead normal, healthy adult lives. Some kids do have lingering problems; most of those are kids who were not diagnosed promptly and/or treated aggressively. Long-term complications include muscle damage and calcium deposits (Calcinosis) under the skin that may be motion-limiting or painful.
Recent studies show that early, aggressive treatment of JDMS is the strongest indicator of good outcome (permanet remission) and disease duration. Most cases that have long-term problems seem to be the ones that took the longest to diagnose and treat.
5. How rare is JDMS?Recent studies have indicated that JDMS occurs at a rate of about 3 per million children (under 18 years old) per year in the United States. That rate leads to approximately 300-400 new cases diagnosed per year in the US. By comparison, JRA (Juvenile Rheumatic Arthritis), which is considered a rare disease, has an incidence approximately 10 times higher.
6. What treatments are given for JDMS?Once a diagnosis of JDMS is made, the treatment is often a 3-day course of IV ("pulse") steroids (Methylprednisolone (Solu-Medrol)), followed by a high dose of oral Prednisone (usually 1-2mg/kg of body weight). for several weeks. This action usually brings the disease under control, lowering most lab tests to or near normal values. Some minor improvement in muscle symptoms may also be seen in this time, but normally it takes a long time for full muscle strength to be regained. It has been shown in studies that early, aggressive treatment of JDMS results in the fastest recovery and best outcomes.
Once the disease process is under control, oral steroids are tapered gradually to minimize their side effects. Sudden withdrawl of oral steroids is dangerous. Often, steroid-sparing drugs, such as Methotrexate (a chemotherapy drug in much higher doses than is given for JDMS), are given to compensate for the reduction in oral steroids. Once the oral steroids are reduced to a less toxic level, the sparing agents can also be gradually withdrawn. Lab results should be closely monitored during the tapering process to ensure that the disease is not recurring ("flaring").
In the cases where steroids or second-line drugs are not tolerated or are ineffective, there are other treatments that can be tried. One of these is a class of treatments with other chemotherapy drugs, such as Cyclosporin, that have been shown to have anti-rheumatic effects. Another is Intravenous Immunoglobulin, an engineered blood product that has been shown to be very effective against JDMS.
To treat the skin rash, anti-malarial drugs, such as Plaquenil (hydroxychloroquine) are usually given. Topical steroid creams (hydrocortisone) may help some patients, and new anti-rheumatic creams (such as Protopic (Tacrolimus)) are proving to be very effective. Dry skin caused by the rash can be combated by regular application of sunscreen or any moisturizing cream, such as Eucerin.
7. What does Prednisone do? What are its side effects?Prednisone is an artificial corticosteroid that is used to treat many diseases. Corticosteroids are steroids that are produced naturally in the body, in the adrenal glands. Prednisone has a dual effect. First, it is a power anti-inflammatory, and it directly attacks the inflammation caused by JDMS. Second, it is an immunosuppresant, thereby attacking the mechanism by which the inflammation is caused in JDMS.
Prednisone is usually given in very high oral doses soon after a diagnosis of JDMS is made. The initial dose is usually between 1-2 mg per day per kg of body weight. For example, Julia was 60 pounds (27 kg) at her diagnosis; her initial dose of Prednisone was 40 mg/day, which is approximately 1.5 mg/kg. The daily dose of Prednisone may be split 2 or even three ways across each day; this increases the effect, and the side effects, of the same size dose. Conversely, the daily dose may be doubled and taken on alternate days. This decreases the effect, and the side effects, of the same size dose.
Methylprednisolone (Medrol, or Solu-Medrol) is a form of Prednisone that is given intravenously (IV). Frequently, it is given in very high doses (up to 1000mg) through an IV infusion that takes 2-4 hours. This is often done shortly after initial diagnosis or the start of a flare, usually on 3 consecutive days, then weekly until the disease is under control. This type of steroid therapy usually has fewer and milder side effects than oral Prednisone.
Prednisone commonly causes stomach upset. Prednisone should always be taken on a full stomach and with a full glass of water or milk to minimize this problem. For this reason, alcohol should be avoided while taking Prednisone, but this should not be a concern for most JDMS patients.
Taking high doses of Prednisone causes the body to stop producing natural steroids. If it is taken for long enough, the adrenals may atrophy and have difficulty to start producing steroids on their own. For this reason, Prednisone must not be withdrawn suddenly, but rather must be tapered gradually to give the body a chance to begin production of steroids. Stopping Prednisone suddenly is very dangerous! Discontinuing its use must be done only with careful medical supervision.
Because Prednisone suppresses the immune system, special precautions must be taken. Most immunizations should not be taken while on Prednisone, although your doctor can tell you which are safe. Prednisone should not be started if you are fighting a serious infection of any kind, and sources of infection should be avoided while taking it. Regular, thorough hand washing is a good defense against most envirnmental sources of infection. Note that if an infection occurs, it may take longer than usual to recover from it.
Presnisone can cause many side effects, including insomnia; nausea, vomiting, or stomach upset; fatigue or dizziness; muscle weakness or joint pain; increased appetite; weight gain; glucose intolerence (steroid diabetes); acne; increased hair growth; thinning of the skin (easy bruising); high blood pressure; cataracts; glaucoma; osteoporosis (Calcium supplements and drugs like Fosamax (Alendronate) can help); roundness of the face (Cushing's Syndrome); "buffalo hump" (fat deposits on the back); avascular necrosis (bone damage due to blood vessel damage); and behavioral changes (mood swings). The manifestation of these side effects varies widely from patient to patient, and depends on the dose, frequency, and duration of treatment. Check out this excellent link for descriptions and pictures of some of these side effects: vasculitis.med.jhu.edu/prednisone.htm.
8. What does Methotrexate do? What are its side effects?Methotrexate (MTX) is a DMARD (Disease Modifying Anti-Rueumatic Drug) that is given usually in addition to Prednisone or other corticosteroids. In much larger doses, MTX is given as a chemotherapy drug, but in the doses given to myositis patients (up to 40mg/week), it acts as a general immune system depressant. Note that it will usually take several weeks of therapy before any effect of MTX is seen.
MTX is usually taken orally in doses up to about 20-25mg/week, but oral MTX sometimes causes digestive tract distress (nausea, stomach pain, gas, bloating, diarrhea, etc), especially in higher doses. It can also be injected (see below). Given orally, it can be taken in either pill or liquid form. Note that the liquid form is the same stuff that is injected, except that it is simply swallowed instead. Note also that the pill form of MTX is much more expensive than the liquid form per dose.
In larger doses, MTX can be injected either intravenously (IV), intramuscular (IM), or subcutaneously (SQ). There are the usual caveats as with any injections (risk of infection, site soreness, etc). Injected MTX causes much less in the way of digestive distress, and the action is supposedly more direct and is effectively a higher dose vs. oral MTX.
MTX is a folate inhibitor, so taking it will often cause symptoms of folic acid deficieny. The first sign is usually oral sores. These side effects are mediated by taking a folic acid supplement, usually on the order of 1-3mg/day, sometime skipping the day of the MTX dose so as not to minimize its effect. Your doctor should tell you about this. There are few, if any, side effects from folic acid supplements that I know of.
When we used it for Julia, MTX was given as a replacement for Prednisone as it was tapered. It worked well, and fortunately Julia tolerated pretty well. She took it orally until we increased to a dose of 25mg/week, then switched to SQ injections, which we did ourselves at home. She eventually was on a dose of 35mg/week, which we then started to reduce because of some problems with white cell counts. She stayed on the injections until her MTX dose was reduced to 15mg/week (Spring of 2001).
9. What does Plaquenil do? What are its side effects?Plaquenil (generic name: Hydroxychloroquine or Hydroxychloroquine Sulfate) is an anti-malarial drug that also is a DMARD (Disease Modifying Anti-Rueumatic Drug). It is usually given to treat the rash of JDMS, but it does have systemic effects. Plaquenil is usually given in generic form, although there is some anecdotal evidence that the name-brand form is more effective. We were told that it may take 3-9 months of therapy before any effects are seen.
Plaquenil can cause stomach upset symptoms, so it should always be taken on a full stomach and with a full glass of water or milk. It can also cause vision problems, including retinal abnormalities, and so an eye exam should be given every six months while taking Plaquenil.
10. Does exposure to the sun affect JDMS?Given that JDMS is a disease that affects the skin by causing a distinctive rash, it stands to reason that exposure to the sun can exacerbate the rash. Exposure to the sun can and does often affect the rash directly, making it more intense and widespread. However, exposure to the sun, especially receiving a sunburn, can cause more serious effects. While studies in this area are not conclusive, at least some children have had flares (relapses) of the general disease when exposed to too much sun.
It is a good idea to apply a high SPF (Sun Protection Factor of 30 or higher) sunscreen to JDMS kids daily. This is true even in the child is going to spend most of their time indoors, as flourescent bulbs give off some potentially damaging light. This practice has the side benefit of acting as a skin moisturizer, keeping the skin from drying out and cracking, which can be unsightly and painful.
It has been recommended to us that sunscreen be applied liberally every morning, regardless of the expected sun exposure. It is also a good idea to reapply sunscreen during every couple of hours of actual sun exposure, after swimming, and after exercise or activity, as sunscreen loses its effectiveness as it rubs off. There are many brands of sunscreen available; it is suggested to try different brands until one is found that is comfortable to apply and wear.
Besides using sunscreen, it's a good idea to avoid unnecessary sun exposure of any kind, especially in the middle of the day when the sun's rays are most intense. You may want to plan activities and vacations around indoor or shady locations. Wearing a hat or cap while in the sun is a good way to keep the sun off the face. You can also purchase special clothing and swimwear that blocks the sun, but is fashionable and comfortable in hot weather.
11. What advice can you offer for dealing with JDMS?- Keep a notebook. Write down exactly what the doctor says, because you probably won't remember later if you don't. Keep the notebook handy all the time, and write down any questions as they occur to you. Enter all lab test results. Jot down events that occur (like falls, colds, or whatever) - they may seem insignificant alone, but a string of them can indicate a trend or a symptom. Having a notebook like this can be very valuable both to you and to your medical team.
- Be informed. Read some books, scan the Web sites, ask a lot of questions and pay attention to the answers. Be active in the decision making process - don't just do what the doctors say without question. Using your notebook can go a long way here, too. Most doctors appreciate a well-informed patient.
- Seek help and support. Don't try to go it alone. Your medical team can tell you where local support for JDMS is - usually rolled into another disease's support (like JRA) because there are usually not enough JDMS patients in one place to have an actual support group. Seek help from relatives, friends, and neighbors, as well as medical professionals, particularly if your child is disabled by the disease. There are a number of Web sites that offer support for the Myositis diseases, and you should take advantage of them. The people there understand what you're going through because they've been there. There is a list of support sites on the JDMS Diary Link page.
- Show appreciation to caregivers and medical professionals. They are often taken for granted and genuinely appreciate a personal thank you, general greeting, or a small gift at holiday time. Remember your doctors, nurses, physical therapists, home health aides, administrators, and even your pharmacist - anyone who has made your life a little easier.
12. How is Julia doing now?
As of this writing, in mid-2005, Julia is doing wonderfully. She is an active, healthy, normal 14-year-old girl. She is in remission: completely asymptomatic, and has been off of all medicine since March of 2002.
Julia is a true JDMS success story, and her story should give any parent facing this disease some hope. We know that there is no cure for JDMS, but we have high hopes that her remission is permanent.