www.curejm.com

[jemedley]

It is "rare" for a child under 2 years old to be diagnosed. Is that because no one knows what to look for or associates symptoms with other things? What is the youngest age to have had an accurate diagnosis?

[HarrietB]

Welcome to the board. Parents of an 18 mo old have reported a JDM diagnosis on this discussion board. It is less common for children of such a young age to be diagnosed with JDM, but you are correct that it may be more difficult to get a diagnosis in such a young child unless the doctor is familiar with JDM, which is a rare and complex condition.

Are you trying to get a diagnosis for your child?

Harriet
Amanda's Grandma
DX age 9, in remission 6 years

[Jaxmom]

I've been wondering the same thing, as our two year old son developed odd symptoms over the summer that concerned us. Bad rashes in sun exposed areas, swollen joints, lots of falls, and an inability to climb up into bed with us or climb up stairs as he was once able to do.

To make a long story short, he has seen multiple specialists, none of whom seem to communicate even though they are in the same children's hospital, or take me seriously that something is wrong. They say nothing could possibly be wrong because his labs were just slightly elevated here and there, not enough to cause concern.

The only diagnoses we received was an allergy to the sun from one derm, atopic dermatitis from another, and proximal muscle weakness and hypotonia from a neurologist. The neurologist ordered occupational therapy, as he thought my son's problems were due to a sensory dysfunction.

After doing my own clinical research on his labs using articles in peer reviewed
journals, I came across JDM. His symptoms matched.

We have had this Children's Hospital drop the ball on him so many times, like drawing blood and never running the tests. Fed up I ordered his medical records, only to find that the rheumatologist mentioned in her notes that with his symptoms, JDM should be
suspected, but she didn't notice any weakness so he was fine, even though we had just seen the neurologist a half hour prior who did diagnose the weakness/hypotonia.

His occupational therapist has ruled out sensory dysfunction and believes his weakness is due to a systemic medical problem. Her and I have both been advocating for a mere evaluation with a PT, and the neurologist won't order it and his primary care dr. doesn't seem to want to go against the specialist.

If I even make mention of JDM, dr.'s tell me that children with JDM can't even get out of bed so my son can't have it.

Admittedly, my son has good and bad days, on his bad days his just sits in his bean bag with puffy eyes and his rash is worse especially on his hands, wrists, and tops of feet, low grade fevers, and on really bad days he will chew his food and spit it out on his tray. I do notice his bad days usually correlate with sunny days. On his good days, he is a very active little boy even though he has constant GI problems, runny nose, and cough.

My questions are:
Can children with JDM cycle through good and bad days?

Is it a progressive disease, regardless of whether it is a good or bad day?

Does it progress rapidly or slowly, or is every case different?

When the Dr.'s tell me that children with JDM are a lot sicker than my child because they
can't even move, is it usually because the dr.'s don't know how to diagnose or intervene
sooner and they finally take it seriously when a child is too weak to move?

I'm not asking for a diagnosis of JDM, but for someone to rule it out. My son's dr.'s wont even let me present my reasons, they won't even listen to me explain new symptoms. Should I send my son's medical records to a JM specialist?

Sorry this is so long, but I am so frustrated and confused as to what to do. Sometimes I think I should just give up, enjoy the good days, and just wait to see if his bad days get worse.

Thank you for reading and any replies, your children and families are in my thoughts and prayers.

Amy
Mother of Jackson (2 1/2)
_________________
Amy B.

[SusanMerrin]

Amy,

I hope they can figure out what is wrong with your son. Not every child is that weak at diagnosis that they just lay in bed and can't do anything.

GI issues in children with JDM can lead to choking and asphyxiation in extreme cases. My grandson, who was diagnosed at 5 yrs. old ended up with an NG tube for a few months due to choking problems and not eating. Dominic could go from having a good morning to having no energy in the afternoon. There were times that he would be playing with friends and then just go to a quiet corner to sit by himself as he was so tired. Fatigue is part of this disease as well and it at times can still affect my little man.

I don't know where you live, but I would get a second opinion. There are a couple of JM experts in the USA. Dr. Lauren Pachman in Chicago; Dr. Lisa Rider at the GWU Myositis Centre in DC and Dr. Ann Reed at the Mayo Clinic. Dr. Rider doesn't see patients under 7 years old, I believe. I seem to remember seeing that somewhere.

Early diagnosis and aggressive treatment in the beginning lead to the best outcome of this disease. All children are different in how their symptoms show and how they react to treatments. This is not a disease I would wish on any one, but if it is the case then treatment should be started as soon as possible. The side effects from the treatment are not nice, but necessary for the best outcome.

I wish you luck and god speed in your journey to find a diagnosis for your son.

Hugs,
Susan
_________________
Dominic's Nana
(dx 04/23/07)
www.caringbridge.org/visit/dominicmerrin
http://www.firstgiving.com/fundraiser/susanmerrin/Cure-JM-2012-Educational-Conference-and-Fundraisin

[Dmitri's mom]

Hi Amy,

Your son sounds similar to what my son was like at dx. He was just 3 when we started noticing the rashes. With in 4 months he could barely get out of bed or up a stair. He would roll out of bed. He could not sit up. He couldnt sit on the floor. He had to be in a chair.
The Drs told me for quite a while that I was crazy
They said if I made him, he would walk ect. Finaly after Yelling alot I got bloodwork and a diagnosis.
I highly recommed a second opinion. Once the muscle weekness set in for Dmitri it seemed fast.

I hope you get an answer soon.

Erin
Dmitris mom (dx 8/28/09 age 3)

[accouch]

We were also incorrectly diagnosed with atopic dermatitis from the dermatologists office.

My daughter was only diagnosed about a week ago so I'm not much help otherwise. I do know that you should continue to follow your instincts as a mother and keep advocating for an answer until you see some improvement.

I hope you find out something soon.
_________________
Amanda

[cdiblasi]

I think the muscle weakness can vary a lot from kid to kid with JDM. My daughter was diagnosed at 3 years, 10 months. She was falling a lot, and climbed stairs slowly, but she could "get out of bed". The muscle weakness came after we noticed the rash for her. To be honest, we didn't even put things together with her falls, and were diagnosed by a dermatologist. I think she seemed to have good days and bad days, and sun absolutely made the weakness worse.

I hope that you get some answers about your son's condition, follow your instincts!

Best,
Christine

[HarrietB]

[madsmegsandmaciesmom]

My daughter was diagnosed at 18 months but started showing signs around 15. It took a while to get an accurate diagnosis.

[seedison]

I can't agree more. GET A SECOND OPINION and as many as you need until you have answers that satisfy. Ask for an MRI of muscles. JDM is diagnosed with several tests, not just one blood test or one muscle test. Ask for a CMAS test. It is a specific set of muscle tests for JM. A trained physical therapist or sometimes a Rheumatologist, can do it.

My daughter also went undiagnosed for a year and we also went from doctor to doctor. Labs can normalize after awhile, my daughter had a slightly elevated Aldolase but the neurologist who saw her didn't seem concerned even though he said she had a mild muscle myopathy (an incorrect diagnosis). When we saw him we had been searching for over a year and watching her get weaker and weaker. Falling down, unable to put on her socks and clothes (from ages 5-6) and couldn't walk upstairs without pulling herself up with the banister. It was hard getting up from the floor too. Ankles very stiff and she had weird (to us) rashes on elbow, knees and eyelids. We were told it was eczema.
Finally I took her to someone who knew and could put all the symptoms together. She also did a muscle biospy to confirm. That was the key.

SO, keep at it mom, and since you are in Wisconsin either go see Dr. Ann Reed at the Mayo Clinic or Dr. Lauren Pachman in Chicago if possible. They are both terrific.

We see Dr. Pachman and a doctor here in Seattle. My daughter is now off all medicine (after almost 5 years) and doing well. But it was a long haul and I wish she'd been diagnosed sooner.

Best,

Suzanne
_________________
Family Support Director
Advisory Board

Flora's mom, DX 1/07 @ age 6

[mkarabec]

My daughter has had this disease since she was 2 years old. She started out with the classic rash on her hands and face. We went to several dermatologists who all gave a wrong diagnosis & treatment. That went on for 2 years.

When she was 4 years old we got the diagnosis of JDM. She has always presented with rash alone, an even more rare form of this disease. She was diagnosed through skin findings, blood work, biopsy, and an MRI. Only the MRI was negative. (or was it?)

Mia is now about to turn 11 years old. I started to notice that she was complaining more about pain in her fingers and wrists. I also noticed that Mia was a lot more tired, especially on Gym days at school. She would look pale and sick.

I knew she had JDM and I had always watched her symptoms. For some reason I did not think the pain in her fingers & wrists were related to JDM but I was wrong. Mia now has arthritis to go along with her JDM.

With that the doctor sent her for another MRI. This time it showed "Mild" muscle adema. The doctor said it is possible that it was always there but the radiologist who read the films may not have known what to look for. I can't even allow myself to dwell on that news.

So now, 9 years later we are about to start our very first course of treatment.

I hear what you are saying about how my kid can't have this disease because she CAN get out of bed just fine. I thought the same thing too. Until just last month I was thinking she might even have been missed diagnosed because she had always presented with a rash but no other symptoms.

So yes, apparently this disease varies greatly from one child to another. Please let us know what the findings are with your child. I pray you have some answers soon.

Melissa Karabec (Mia's Mom)
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Melissa (Mia's Mom, DX 2004)