Our Juvenile Dermatomyositis (JDM) Story

I wanted to create some awareness for Juvenile Dermatomyositis, and create a page that can maybe help people that are newly diagnosed or have loved ones that are newly diagnosed.  I have found it more helpful reading blogs & talking to people sometimes than reading medical pages.

JDM is an extremely rare disease that affects only between 2-3 children in a million in the US.   (But we can't win the lottery!!!)    Emily has had so many other diagnosis since initially being diagnosed with Juvenile Arthritis in 2008.  Every one brings it's own issues, but this one is different. 

Dermatomyositis-  Derma stands for the skin rash that starts around the eyes, on the hands and the elbows.  Her eyes looked as though we had painted the lids pink, and underneath it looked like she had very large bags.  As one mom told me, if left untreated the rash can eventually cause the skin to break down.  To me, the elbow patches looked like swollen skin, and the hands had what looked like little red dots in patches.

Myo- Muscle, sitis- inflammation.  Pretty much, this disease causes not only very severe muscle inflammation but also causes the muscles to deteriorate.  If left untreated this disease will leave the victim unable to walk, having a hard time sitting up, unable to brush their own hair or teeth, and incredibly fatigued.

Emily started on Enbrel in October 2008.  Over spring break of 2010 she had a very bad flare that left her unable to walk for a week.  She had a few good weeks, and then she went back to bad for a few.  We increased her Enbrel dosage, and her rheumatologist put her on Motrin three times a day.  She said that the Motrin was helping her.  Over the course of the summer she seemed more and more tired, and her energy level went down significantly.  When we went to the Juvenile Arthritis Conference in Philadelphia I brought her wheelchair.  I rolled her around the majority of the time we were there- especially when we were out on the town.  By that point I knew that her medicine needed a change.  I was sad about that, honestly.  For one thing, the Enbrel was such a miracle for her that I hoped that she could stay on it for a long time.  Obviously, that was no longer an option so while at the conference I spoke with the Orencia reps and sought as much information as I could.  I found out that it could take three to six months to reach maximum effectiveness.    Flash forward a bit, her next rheumy visit I asked about changing meds, but because of a problem with something else her rheumy didn't feel comfortable changing yet.  So I waited.  In September I started to panic.  All of the sudden it seemed so much closer to winter.  Winter would bring more Raynaud's problems, possibly more frostbite at school.  (For those that don't know, Raynaud's is when the blood vessels overreact to cold.  An affected person may be cold at any temperature, and hands, feet, ears, nose can actually get frostbitten.  True Raynaud's is characterized by three color changes.  White as the blood stops flowing, then purple, then red as the blood rushes back in.  These episodes/ spasms can last a minute to an hour.  Most of Emily's have been a few minutes to a half an hour.   I couldn't imagine the winter for a child with such significant Raynaud's without adequate arthritis control.  So, I made an emergency appointment to have her started on Orencia right away.  For once, her rheumy agreed with me.  He wouldn't give her medicine to help her Raynaud's, so changing her arthritis meds was my only hope at helping her.

The first dose of Orencia was AMAZING!!!  She had 9 wonderful days of running, jumping, playing like the other kids!  Then came the crash.  Slowly over the next few days she lost more and more energy and seemed to be in more and more pain.  We believed it was the arthritis, but I had also begun to suspect possibly fibromyalgia.  It's hard for a child that has chronic pain to talk about it.  She's more likely to talk about a cold sore than her inability to walk.  When I would ask her where it hurt usually I would get a vague "all over here" (points to whole leg) kind of response.  However, it seemed that she started touching her muscles more.  I was still pondering this at her next dose of Orencia.  After dose number 2 seemed to only have an affect for about 3 days I got upset.  I didn't think the Orencia wasn't working.  In truth, I thought that it was just wearing off too quickly.  Well, again I made an emergency appointment with her rheumy because she seemed to be in so much pain.  She didn't want to move.  She wanted to stay on her couch and not move at all.  I called her pedi first because she happened to have a fever.  Granted, it's hard for me to tell when she's sick, but I somehow knew that this fever was different.  The first one that I noticed was 104.4F.  When we went to her pediatrician's office she wouldn't get out of her stroller.  She was struggling so badly!   Her pedi, whom we absolutely adore, called her rheumy because she thought he would want to see how much pain she was in.  I had asked her about steroids, since they are an anti-inflammatory, and even our conservative pedi that only likes to use steroids when it's an absolute MUST says, "Yes, I would definitely put her on steroids but I'm not sure what dose her rheumy would like her on.  I think he would like to see her this way."  So, she called for us since we can never get a call back, and we went for a visit later in the day.  And then she got blown off.  Not only did he NOT do ANYTHING for her pain or inflammation, but he diagnosed her with another condition- the Dermatomyositis.  He muttered that he should order an MRI, but he didn't actually do it.  Despite telling me that she had a whole different disease, even telling me the name of it, he refused to prescribe anything.  When I asked for steroids, he claimed he thought she had strep and would be fine with a round of antibiotics.  His new nurse practitioner, a former infectious disease nurse, suggested that we get a strep swab and do it right then in the office, but the doctor says "No, go back to your pedi in 2-3 days for a swab."  At this point I was in too much shock to be angry.  It takes me a while to get truly angry.  I have always found anger- real anger- to feel unnecessary.  I always feel like I'm being irrational when I'm angry, so I try to find ways around it.  I guess sometimes it's healthy.

As soon as we got home from the doctor's and I fully realized that I came home with no meds to address her pain or inflammation I got ticked off.  I knew it was an autoimmune reaction from the start.  Her pedi has been practicing for a long time.  She would have caught it if it were, indeed, strep.  I started reading, researching, thinking.  What I found out was this:

JDM can cause crazy fevers, sometimes lasting for over a week, coming down with Motrin but not resolving.  JDM needs to be treated quickly and aggressively if you would like to get it in remission and hope to keep it that way.  Enbrel is sometimes used as a third-line medication for JDM.  Orencia is not shown to help improve it at all.  That's why it didn't come out more until we stopped the Enbrel, and would explain why increasing her Enbrel first seemed to have some effect.  MRI's will show muscle inflammation, and that is the best way to test for it.  This can be a completely disabling disease if not properly addressed.  Her having Mixed Connective Tissue Disease (MCTD is overlap syndrome, which means she's more likely to keep getting crazy rheumatic diseases to add to her collection) also means that she *shouldn't* get any one thing full-blown.  I am currently thankful for that.  Depending on what you read, I have read that at some point in time her MCTD could change into full blown Lupus or Scleroderma, but I am currently choosing to think simply that it will help her from getting as sick as she would without it.  They say that 1/3 of the children affected will go into remission with no recurrence.  Another 3rd will have a few occasional flare up, and the last 3rd will struggle all of their lives.  As long as there is active rash there is active disease.  Generally the severity of the disease is based upon the appearance of the rash, but again having the MCTD may well mask severity as well. 

How is JDM treated?  The first line of medication is steroids.  They say that if treated quickly and aggressively with a combination of IV Salu-Medrol and oral steroids, there is a greater chance of achieving remission.  The second line is Non-Steroidal Anti Inflammatories, like Aleve.  Naproxen, Celebrex, Toradol, Meloxicam (Mobic) are all NSAID's.  Third line drugs are TNF blockers like Enbrel & Remicade.  I'm not sure how they are effective, but they are!  :)   They also use IVIg treatments.  IVIg's Infusions are amazing!!!  They take the platelets from 2,000 donors, separate out the antibodies, sterilize, take out viruses and such, freeze, and bag.  The thought is this:  things like rheumatic illnesses, leukemia and various other issues are caused as a result of the immune system confusing your own bodies antibodies as "the enemy".  By introducing thousands of other people's antibodies it confuses the body into accepting those as good antibodies.  Confusing, but super cool and amazing!   

If you are not affected in any way by this disease, thank you for reading & helping to gain awareness!  If you are affected by this disease, or if you think you may be, please feel free to message me.  I would love to help if I can.  Whether you need information, or just a shoulder from someone that understands I would love to help.