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Friday October 1

Julia was complaining about a stomach ache at school - which is unexpected give that she's taking Tagamet now. We'll have to keep an eye on it. She seemed fine after school, and took her weekly keyboard lesson without incident.

Today, I'm off to the Myositis Association of America annual conference in Arlington, Virginia. Been looking forward to this, and meeting some people I've only emailed before. I'm going to go into a *lot* of detail about the conference, I tend to take copious notes. Please bear with me, and feel free to skip the parts you're not interested in. I won't be offended. Also, it's going to take me a while to get everything typed in. Please be patient. Thanks!

This afternoon, I arrived at the hotel where the conference is being held. I met briefly with a staffer at the MAA, who asked me if I would review a book for the quarterly newsletter. The book is about dealing with being a parent of a child with a chronic neuromuscular disease. Seems applicable. I told her I'd be happy to read and review it. Look for the review here as soon as I read the book and write the review.

This evening, I met up with two couples here for the conference. We met through the MAA BBS and arranged to meet. One is a man who has IBM and his wife, and the other a woman with DM and her husband. We all shared about our situations over dinner. It was a nice time, even though the service at the restaurant left much to be desired.

After dinner was the registration for the conference. Things were slightly disorganized, and the line to register to collect our name badges and conference schedules was long. They kept offering us luscious-looking desserts throughout the evening. I happened to sit with a family from New England. They have a 9YO boy with JDMS, who was diagnosed when he was 5. They'd seen the Diary and already knew all about Julia - she's also quite the celebrity among the MAA staff, too! I ended up talking to a couple of other JDMS families. It was amazing how similar everyone's story is.

Saturday October 2

I spent a long, intense day at the MAA Conference. Details to follow. Meanwhile back at home, Julia and her mom went shopping and accidentally missed their exit off the highway - and ended up spending some time at Plymouth Rock! They did finally get back on track and went where they started out to go. It sounded like they had a great time.

Morning Session

The conference started out with an introduction from the founder of the MAA, Betty Curry. They also handed out several awards to members of special distinction.

The first session consisted of a series of presentations by three well-known and highly respected doctors in the myositis field. Dr. Richard Barohn from the University of Texas Southwestern Medical Center in Dallas; Dr. Marinos Dalakas from the National Institutes of Health, and Dr. Jerry Mendell from the Ohio State University School of Medicine.

It turned out that these three presentations were focused on IBM (Inclusion Body Myositis). IBM is, as it turns out, in many ways the most serious of the major forms of Myositis (which are IBM, PM (Polymyositis), DM (Dermatomyositis) and JDM/JDMS (Juvenile DM)). However, although about half of the audience is indeed dealing with IBM, the other half were not. The speakers did try to moderate the emphasis on IBM, often by comparing their figures and observations to the other forms of myositis, but it was obvious where the attention of these talks lay. Which is not to say that the talks were uninteresting!

Dr. Jerry Mendell

Dr. Mendell spoke first. He began with a history of IBM; when it was first described and the pathology defined, when the name IBM was coined, and up to recent years when more detailed pathology were discovered, and definitive diagnostic criteria were published. He talked about the epidemiology of IBM; he defined IBM as rare, with about 2-5 cases per 100,000 general population, which is approximately the same rate as for Amyotrophic Lateral Sclerosis (ALS, or Lou Gherig's disease), which is a lot better known. IBM is most common in people over 50 years of age, and males contract it about 3 times more often than females. He described two general forms of IBM - sporadic, which has no known hereditary component, and inherited, which occurs when other family members are known to be affected. At Ohio State, Dr. Mendell tracks his Myositis parients, and has observed a breakdown of 453 patients as: IBM - 33%, DM - 24%, PM - 15%, and other - 28% (he did not elaborate on "other").

IBM usually has a non-catastrophic, gradual onset, on the order of 5 to 10 years. It's normally painless in the muscles, and is asymmetric (one side usually is more affected than the other). This is in contrast to JDMS, which almost always has symmetrical muscle weakness. IBM weakness tends to begin in the legs and spreads upwards. There is proximal weakness (near the trunk of the body, and distal weakness (the hands and feet). Also there is swallowing difficulty in about 30% of IBM patients, and also facial involvement in about 30% of patients. Cardiac and respiratory muscles are usually not involved.

Dr. Mendell then showed a photograph of a woman patient whose hands were so weak that she could not form a grip. This is apparently very characteristic of IBM.

Like other forms of Myositis, IBM is often misdiagnosed. Common misdiagnoses include ALS, PM, Limb-Girdle Muscular Dystrophy, Distal Myopathy, Distal SMA, and Peripheral Neuropathy (CMT) [I'm not familiar with most of these, so please don't ask me about them]. Also, there is often overlap syndrome with other associated auto-immune conditions.

Finally, Dr. Mendell showed a slide of a microscopic examination of an IBM patient muscle biopsy. It showed pink bundles of muscle fibers, surrounded by small black [stained] inflammatory bodies. These bodies are also present in DM and PM. However, there was also evidence of some muscle fibers that were attacked and destroyed, leaving spaces behind called vacuoles. Under a much higher resolution in another slide (generated using electron microscopy), you could see where muscle fibers had been changed into "fibrular" material. He described this phenomenon as definitive of IBM, and has not been seen in any other disease process.

Dr. Marinos Dalakas

Dr. Dalakas spoke next. I had heard of him because of a paper he wrote that demonstrated the effectiveness of IVIG. His talk began with a series of microscope slides. The first showed normal muscle tissue, with bundles of pink fibers. He next showed one from a DM patient - again, the black dots (T-Cells) of inflammation, with some invasion of the muscle fibers. This inflammation cuts off the blood supply, muscle tissue is gradually destroyes, and weakness occurs. His next slide showed a damaged blood vessel.

He spoke of treatment. He said that there is no specific treatment for DM - steroids, Methotrexate, even IVIG are non-specific. They happen to help, but they do not attack the process of myositis itself.

He showed another slide from a PM patient; inflammatory T-Cells (Lymphocytes) inflame and eventually destroy muscle fibers. Next, he showed a slide from an IBM patient - it looked much worse, with more damage, and muscle cells that were actually missing, replaces by fat cells. Scar tissue has formed and surrounded any healthy cells, and some cells are seen as damaged, with vacuoles present.

Dr. Dalakas then spoke about the immune system process. In IBM patients, CD8 and M0 immune system cells ("sensitized" T-cells that are activated by Interleuken (IL) and Tumor Necrosis Factor (TNF)) attach to receptors on muscle cells, much like antigens do. In other words, the T-cells are recognizing the muscle as foreign and attacking it. He had a very complicated diagram that showed all this.

He reiterated that there is no disease-specific treatment for DM, as well as for PM and IBM.

He mentioned about a study of 75 patients at his clinic. Often, other autoimmune diseases and/or features are found. Specifically, 16% have another autoimmune disease (like Psoriasis, HIV, Lupus, DM, etc.), and 30% have a positive Antinuclear Antibody test result.

Next, he spoke about amyloid protiens that have been found in IBM patients' muscles looks like amyloid protiens that are found in the brains of Alzheimer's Disease patients. He emphasized, however, that there is no evidence that the two disease are related. He went on to say that many different proteins accumulate in the muscles of PM/IBM patients - their role in the disease process is suspect, but unknown.

What causes IBM? Immune system dysregulation; Nuclear [cell nucleus] abnormalities; Amyloid and related protein deposition; and Mitochondrial abnormalities. What are the common features of IBM? Inflammation, Muscle fiber loss, and Fibrosis (formation of scar tissue in the muscle tissue). Finally, he mentioned that the hereditary form of IBM may have a genetic marker on Gene 9 in the p1-q1 region. He stressed that this gene alone does not cause IBM, but it is one of probably many that contribure to it.

Dr. Richard Barohn

The focus of Dr. Barohn's talk was treatment of IBM. He lists the treatments by type as:
- Corticosteroids (Prednisone)
- Cytotoxic
- Methotrexate (MTX)
- Azathioprine (AZA, or Imuran)
- Cyclophosphamide
- Cyclosporine
- Intravenous Immunoglobulin (IVIG)

He also presents the drugs as they are usually given to patients:
1st Line - Prednisone
2nd Line - Methotrexate
- Azathioprine
3rd Line - Cyclophosphamide
- Cyclosporine
4th Line - Chlorambucil

He then spoke about drug trials. The two basic types are retrospective and prospective. Retrospective studies look at the results based on what patients were given in the past. They can be controlled (using a placebo) or non-controlled, but retrospective studies are usually non-controlled. Prospective studies plan ahead to what will be given to patients in the future. They can be controlled by being random (patients not knowing whether they are getting the drug or not), blind (the doctor doesn't know which patients get drugs), and placebo (identical-looking inert pills in place of drugs). The best type of study is Prospective, random, blind, and placebo controlled. The least useful is retrospective and non-controlled.

Use of Prednisone (1st line therapy):
in DM, 60-100% have a partial response, 30-60% have a complete response
in PM, > 80% have a partial response, 10-33% have a complete response
within 3-6 months.

Dr. Barohn then emphasized that CK (Creatine Kinase) levels in the blood should not be use as the primary way to determine patient condition. He cited several examples of patients with "normal" range CK levels that had severe problems, and others with dramatically elevated CK levels that were doing well. He said that clinical exam, patient self evaluation, and lab tests all need to be considered before an evaluation of a patient's condition is made.

The following is Dr. Barohn's Prednisone therapy regimen:
- Initial dose of ~1.5mg/kg/day, administered in a single morning dose
- After patient improvement, switch to same dose every other day
- Taper slowly, changing dosage no more than every 2 weeks.
- Monitor blood pressure and weight
- A calcium replacement program should be implemented (1200mg/day calcium supplement and 400 units Vitamin D)

Unfortunately, IBM has been shown not to respond to Prednisone therapy. He cited a study where a small percentage of patients had some short-term improvement of IBM symptoms, but in the long term (2 years plus), they fared no better than a group that took no Prednisone.

Second line therapy:
Azathioprine (AZA, or Imuran) - Lymphocyte killer:
- about 2/3 of patients have a partial response, 10% have a complete response.
In a study, AZA + placebo had the same effect as AZA + Prednisone
- Dosage 150-200mg/day once daily.
- Can take 3 - 18 months to take effect
- If AZA causes flu-like symptome, it must be discontinued
- CBC and liver function must be measured monthly
Methotrexate (MTX)
- 70-90% experience a partial response
- May be more effective than AZA
- Effects usually not seen for about 2 months
- Weekly dose; dose above 20mg should be injected IV or subcutaneous
- Side effects incliude lower CBC, decreased liver funciton, pulmonary (lung) problems
- For IBM, Prednisone + MTX results are disappointing.
Intravenous Immunoglobulin (IVIG)
- "Polyvalent Antibody" - whatever that means
- Thousands of whole blood donors contribute to a pool
- "Cohn Alcohol Fractionation" method to purify
- Initial dose 2mg/kg (1mg/kg for 2 days, or 0.4mg/kg for 5 days
- Smaller maintenance dose
- Cited scarcity and extreme cost of IVIG therapy
- For IBM, results have been disappointing.

Basically, Dr. Barohn came out and said that there is currently no long-term effective therapy for IBM. He said that a trial of Beta-Interferon is ongoing with about 20 patients, and results are expected in the spring of 2000.

Medical Panel Q & A

After a break, the three doctors took questions from the audience. In previous years, a microphone was passed aroud the room to get questions, but they found that this became time consuming and unweildy, and people would get into a lot of detail about their particular case. This year, questions were submitted in writing, both before the conference, and right up until the questions started being asked. A panel of volunteers from the audience read the questions to the panel.

Here are the questions and a summary of the doctors' answers. The doctors all said that this group of questions was among the most difficult and challenging they'd ever heard from a lay group - in fact, they said "we hesitate to call this a lay group". Dr. Mendell even said he wanted these question askers on his staff.

Question: If suppressing the immune system with drugs like Prednisone fails, would boosting the immune system be of any value?
Dalakas: This approach is currently bein examined.
Question: Calcuim deposits (calcinosis) can be of varying type - deep, just below the skin, or erupting, causing a sore. Why are there differences? How is it best to treat them?
Barohn: Calcium channel blockers are helping in some cases, but less than 50% of patients are experiencing subjective relief.
Dalakas: Doctors need to treat soft calcium deposits aggressively. They become much more difficult to treat if they harden. Surgery has proven not to be helpful.
Mendell: Calcinosis sites look infectious, but actually are not - be careful not to treat these discharges as infectious; they are not, they are just calcium being ejected from the body.
Note - the non-surgical treatment of calcinosis is a new change in the recommended treatment.
Question: What about herbal supplements? Are they effective, and do the interact with other drugs?
Barohn: As far as he knows, there are no adverse effects of interactions. He does not recommend preventing patients from using these if they want to.
Dalakas: He doesn't know of they are beneficial, and can be dangerous. Be careful.
Mendell: No objections - discuss it with your doctor, and don't overdo it. Cautions against megadoses of certain vitamins, such as B12, which can have toxic effects.
Question: What's the relapse/remission rate?
Mendell: No hard numbers here, but most JM patients go into permanent remission after puberty.
Question: Do vaccinations cause DM?
Dalakas: There is a study (Miller) ongoing, but there is no evidence that they cause disease.
Question: What is the risk of cancer with DM?
Mendell: There is never a zero risk with DM. The risk is highest within the first 2 years. He strongly recommends that all DM patients have age appropriate cancer screening regularly.
Question: What's the latest info on Enbrel?
Dalakas: Enbrel is a Cytokine inhibitor that interacts with TNF (Tumor Necrosis Factor). There's currently no evidence that it helps the disease process in DM.
Question: Is there a connection between myositis and arthritis?
Mendell: Overlap is very common - interstitial lung disease is also common.
Question: When do you recommend injected vs. oral Methotrexate?
Barohn: Injection is only indicated in higher doses only.
Dalakas: Only prescribes oral MTX unless nausea is observed.
Mendell: Not sure if there's higher toxicity in the injected form.
Question: How do you feel about a long-term 5mg/day dose of Prednisone?
Barohn: The ultimate goal is to cure the disease and get off the drugs. For the first instance of disease, it's OK to taper quickly at a higher dose, then more amd more slowly as the dose lowers. If there's been a flare, then taper very cautioulsy.
Dalakas: There's no significant side effects to a 5mg/day or /every other day dose. This may be an acceptable strategy.
Mendell: After long-term Prednisone therapy, the body becomes dependant on it - the adrenal glands atrophy and no longer secrete the body's natural corticosteroid. Recenty, they have been testing an alternative therapy of a high dose for the first 7 days of the month, then nothing the rest of the month. This has been very effective so far.
Question: Is there a bacterial cause to Myositis? i.e., mycoplama bacteria has been implicated in some cases of multiple sclerosis.
Dalakas: Lyme disease has been known to to cause some myositis. "Tropical myositis" is sometimes seen in travellers. Any immune-system suppressing infection may cause myositis as a side effect.
Mendell: An infectious cause for myositis has been saught for years. Early on, the inflamed cells were thought to be infectious agents. However, bacterial or viral particles should be visible with modern microscopy techniques.
Question: Does PM cause blood or circulatory problems?
Mendell: Overlap syndromes may cause this, but only rarely. Loss of muscle tissue itself may cause coldness, especially of the extremities. Reynaud's syndrome may be a common overlap disease.
Question: How can we tell if we have sporadic vs. hereditary IBM?
Mendell: The vast majority of IBM is sporadic, with no risk to your decendants. Familial IBM may cause occurrance in siblings, but not offspring. Hereditary IBM is when your parents or grandparents had it, then there is increased risk to offspring (just like in MS). In this case, it is autosomal dominant, and there's a very high risk to offspring.
Question: What's the mortality of myositis vs the mortality of the therapies to treat it?
Barohn: IBM is not largely a fatal disease. Most IBM patients die of something else. Fatalities from adverse reactions to the medicines used to treat it are also rare.
Dalakas: Muscle weakness may cause accidents that cause fatalities - falls, car accidents, etc.
Mendell: Dysphagia (swallowing problems) may cause complication (aspiration pneumonia) that can be fatal.
Question: Is the Muscular Dystrophy Association funding research into myositis?
Mendell: Yes! Some studies are directly funded, and others are conducted at MDA facilities. Also, myositis patients can be treated at MDA clinics.

Afternoon Session

After a very nice sit-down lunch (included as part of the conference), the MAA had parallel sessions scheduled. I can't comment about any of the other sessions, but I did attend all the Juvenile Myositis sessions. There were only about 10 families represented in the JM sessions. The JM sessions were originally scheduled to have two sessions this afternoon, and one tomorrow morning, but because of a scheduling problem, they held all three sessions this afternoon. This made for a very intense afternoon, but a lot of great information was presented.

The presenters were Dr. Ann Reed has just joined the team at the Mayo Clinic in Minnesota; Dr. Paula Morris, an Associate Professor at the University of Arkansas for Medical Sciences; and Dr. Vikki Stefans, also an Associate Professor at the University of Arkansas for Medical Sciences.

Dr. Ann Reed

Dr. Reed is presenting on the latest in research and development in JM. She began by saying that the latest estimated incidence of JM is 1:200,000 in the US, a much higher incidence than previously estimated. She esitmates that there about 3000 active cases of JM in the US today. She said that JM accounts for about 20% of all myositis, and nearly all of the myositis found in children and adolescents is JM.

Diagnostic muscle symptoms for JM:
- symmetrical proximal weakness
- elevated muscle enzymes (CK)
- distinctive EMG (electomyograph) pattern
- vasculitis/inflammation seen at muscle biopsy

She also said that MRI is becoming a more popular tool for diagnosing inflammation because it is painless and non-invasive, but it can be inaccurate - putting a child on a stairmaster immediately before an MRI will show "characteristic" inflammation.

Diagnostic skin symptoms:
- Gottron's papules - raised bumps on the hands
- Erythematous rash - red face rash
- Periungual edema and telanglectasia - nail bed swelling
- Alopecia - hair loss
- Calcinosis - calcium deposits

She also sometimes noted abnormalities in the roof of the mouth.

Common clinical symptoms:
- Muscle enzymes elevated - 95%
- Fatigue - 90%
- Rash - 90%
- Muscle Weakness - 75%
- Muscle pain/tenderness - 50%
- Enlarged lymph nodes - 50%
- Alopecia - 30%
- Arthritis - 25%
- Enlarged liver & spleen - 10%

Other common signs are eyelid swelling; spidery looking markings on the eyelids, nose or ears; and skin ulcerations. She also mentioned some other symptoms, like Perivascular Lymphocytic Infiltrate, Focal Necrosis, and Upregulation (class I and II).

30% of JM patients have a rash 3 or more months (up to 2 years) before any muscle weakness is detected.
Conversely, 30% have muscle weakness before any rash appears.
60% have a rash and muscle weakness within 3 months of each other.
The rash and the muscle weakness are seperate processes, and must be treated seperately.

Some of the known infections associations with JM include Coxsackievirus B, Toxoplasmosis, influenza, and Myxovirus. Immune deficencies associates with JM incluse IgA deficiency, and hypogammaglobulinemia.

Dr. Reed then discussed some of the very interesting genetic research that has been learned recently. An examination of Chromosome 6 has shown one gene that appears to be common to most JM patients. The gene at DQA1*0501 appears in > 85% of JM patients, and < 30% of the population in general. This indicates that this gene is very likely to be one that influences JM. She said that it's very likely that a combination of several defective genes are the actual cause of JM.

Next, Dr. Reed talked about the ongoing study of New Onset JDMS being carried out by Dr. Lauren Pachman in Chicago. With 3 years of a 5 year study complete, the study has 458 patients being tracked - this is an estimated 1/3 of all actual cases of JM. Some of the things that have been discovered thus far are:
- an upper respiritory infection 3 or more months before diagnosis is very common.
- active skin vasculitis.
- incidence in caucasians higher than expected - it may not be as rare as was thought.

Dr. Reed showed a slide that listed the number of JDMS patients on a state-by-state basis. While this is interesting, it would have been more useful to correlate the number of cases to the population of each state and calculate a disease rate.

Dr. Reed herself is conducting an ongoing study of all the cases that have been diagnosed in the state of North Carolina. She produced a slide that plots the exact geographic location of the home of each patient. It turns out that there are two significant clusters of patients within the state - and not in population centers, which is what would be expected. They are in suburban locations.

One of the patients happens to be the granddaughter of a state senator in North Carolina, and that senator is able to provide Dr. Reed with an extensive amount of information about the state - both natural and man-made. The study will be trying to correlate the diagnosed patients with environmental factors, like soil composition, pollution, industry location, and hundreds of others. This is a very exciting study, and I'm looking forward to seeing the results.

Dr. Reed then talked about some more cellular DNA analysis that has been going on. Some research suggest that JM may be related to TNF (Tumor Necrosis Factor), which is believed to control cell death (apoptosis). Cell death is not as onimous as it sounds - it just means the programmed end of a cell's life when it has completed it's life cycle. They have found that when TNFA2 is found at higher levels, those patients tend to have more calcinosis. The improper amount of TNF may be prolonging the disease or causing additional problems with it.

Dr. Reed next displayed a graphic that showed how T cells have adhesion molecules on them. They are designed to make the cells stick to the appropriate place in the bloodstream, like when you get a cut and white cells stream to the cut area to help the blood clot. One idea is that there is a dramatic increase of adhesion molecules in DM muscle biopsies. This may be a JM regulatory mechanism. There is a study ongoing to look at this with 15 JM patients and 15 controls.

Another recent study is on IV pulse steroids, which Julia has been getting this summer. The study suggests that although this therapy does have a dramatic effect on short-term symptom relief, in the long term, this therapy has no effect on outcome for JM patients. I'll have to ask Dr. S. about this one.

Another interesting theory regards microchimerisms - the exchange of cells between the mother and fetus during pregnancy. This is a well known effect, but has always believed to be of no effect to either mother or child, because so few cells are affected (about 1:1,000,000 cells). In fact, some researchers believe that Graft versus Host disease, which transplant patients suffer when their immune system attacks their transplanted tissue, may have a disease process very much like JDMS. The theory is that the higher the number of maternal cells in the child, the higher the incidence of JDMS. This awaits more study.

Lastly, Dr. Reed talked about Enbrel, a new drug that is an Anti-TNFA. This drug was recently approved for use for Rheumatoid Arthritis patients. However, delivery of the drug requires twice-a-week injections. TNF binds to cells at the TNF-R (receptor). This drug sops up the TNF in the blood so that it never binds with the TNF receptors on the muscle cells. A JDMS study of this drug is forthcoming. This drug was already studied for Lupus, and was found to be ineffective, and even detrimental in some cases.

Dr. Paula Morris

Dr. Morris presented a talk on the presentation and clinical management of JDMS. There turned out to be quite a bit of overlap between Dr. Morris' talk and Dr. Reed's talk, but the conferred before the talks began and in the actual presentations, there was not a lot of duplication of information.

Dr. Morris began with some epidemiology, or the study of disease in a population. She said that female patients outnumber males 2:1, and African-Americans outnumber Cuacasians 2:1. There is no clear reason for this, but immune disorders in general are more common in females. She also said that the average age of initial onset of JDMS is 7 years (exactly Julia's age when she was diagnosed), and that it's very rare under the age of 2.

She then described two forms of presentation, acute and insidious. The acute form comes on very quickly, with the patient having high fever, prostration, profound muscle weakness, and rash in a very short time frame. She said that in some cases, children will go from asymptomatic to unable to lift their heads in as little as 2 weeks.

The insidious form is more gradual, more common, and is much more prone to misdiagnosis. The symptoms include the skin rash (often misdiagnosed as allergy or other dermatological phenomenon), athralgia ("growing pains"), frequent falls or stumbling, inability to take a big step (as onto a school bus) or turn a doorknob. In younger patients especially, who don't yet have the ability to verbalize their symptoms, frustration and irritability are common. She described one case of a 2YO who went from being a happy toddler to a belligerent terror. The parents were told for months that his refusal to get up when asked and perform other simple tasks were just The Terrible Twos. Finally he got the rash and received a correct diagnosis of JDMS. It seems the boy was unable to do what he was being asked to do, and was acting out because he could not verbalize his frustration.

According to Dr. Morris, the stages of JDMS are:
1. Prodromal period with non-specific symptoms (weeks to months)
2. Progressive muscle weakness and rash (days to weeks)
3. Persistent weakness, rash, and active myositis (up to 2 years)
4. Recovery with or without residual muscle atrophy, contractures, and calcinosis.

Diagnostic signs of JDMS (as we all know by now :) are muscle weakness, rash, typical electromyography (EMG), typical muscle biopsy, and labratory findings. More details on each of these:

Muscle Weakness: symmetrical, proximal (near the trunk of the body) usually affected first, Gower's Sign (compensating for weakness when doing a task, like using the hands to push against the legs when standing up), Pharyngeal & palatal muscles (swallowing difficulty and food aspiration), and esophageal hypomotility (also related to swallowing).

Skin Manifestations: Eyelid edema (swelling, which can also be caused by allergy and renal problems), Heliotrope, Gottron's Sign (raised bumps on the hands and elsewhere), Nail-fold telangiectasia (nailbed swelling and blood vessel abnormalities), and facial butterfly rash that is distinct from the Lupus face rash.

EMG: The EMG finding will show membrane instability, full early recruitment of muscle fibers, a bizarre and characteristic high frequency discharge, and normal nerve conduction.

Biopsy: Inflammatory exudate, Immune cell staining (IgG, IgM, C3). She spoke about MRI here, including a slide showing a cross-section of a patient's thigh muscles with obvious inflammation (reminded me of Julia's MRI). She reiterated that false positives can happen, and that in younger patients anesthesia may be necessary to get then to hold still long enough for the procedure. If anesthesia is necessary, a biopsy is a more accurate diagnostic tool.

Laboratory: elevated muscle enzymes (CK); Sedimentation rate elevated or normal; White Blood Count elevated or normal; Anti-Nuclear Antibodies may be positive; von Willebrand is elevated about 70% of the time; and T Cell counts are decreased, which results in an increased percentage of B Cells, and an increased T-Helper to T-Suppressor ratio.

Other JDMS manifestations include: Gastrointestinal - the GI tract is sensitive to loss of oxygen, and necrosis or peritonitis may occur; Joints - about 30% of JDMS patients have some arthritis; Pulmonary - hypoventination is possible; Cardiac - abnormal electrical signals, and abnormal rhythm is possible, andy chect pain especially on exertion should be examined; Ophthalmological - in addition to drug side effects, vasculitis may affect blood vessels in the eye directly; Central Nervous System - brain blood vessels may also suffer vasculitis.

Treatment for JDMS includes the usual drugs, Physical therapy, regular sunscreen use, and calcium (1200mg/day) and Vitamin D (400 iu/day) supplements. Complications include Calcinosis (calcium deposits under the skin); Osteopenia (reduced bone mass) and resultant fractures; and overlap syndromes. She recommended a baseline bone scan before steroid treatment is started, and periodic follow-up scans.

The Prognosis for JDMS is generally good. The disease tends to be active for several months to several years with occasional relapse (flare-ups). The accepted fatality rate of 5-10% is probably high, and is clinically observed to be less than 5% overall. In the long term, expect good function and resolution of complications. She stated that about 90% of all JDMS patients eventually go into permanent remission. A Good Statistic for a change!

Dr. Vikki Stefans

Dr. Stefans' talk was about rehabilitation. She said that the goal of rehab is to prevent contracture, muscle wasting, and weakness. She stressed a need to maintain a balance between extremes of physical activity and conservation of energy - patients need to push themselves, but not to the point where it becomes detrimental.

She said that physical therapists need to be aware of patient's medical needs and changes, and refer them to medical management as required. A parent will always look for the easy, quick fix when a new problem occurs in their child. The therapist needs to identify increased disease activity, look for reasons behind any changes. For example, why is the child losing weight? Are they having nutrition problems,stomach trouble, or difficulty swallowing? Their doctor may need to be notified, or a nutritionist may need to be consulted, depending on the situation.

Osteopenia (bone mass loss) often leads to fractures. She said there may be a genetic component to osteopenia, and of course use of corticosteroids can cause it. Bones and joints may have only limited weight-bearing capacity, and overly strenuous activity should be curtailed. She tries to counteract this with calcium and Vitamin D supplementatin, and has also begun using calcitonin to aid absorbtion of calcium. She mentioned that research shows that dietary and supplemental intake of calcium has no effect on calcinosis.

Dr. Stefans next described some types of physical therapy that are used to prevent contractures and improve Range of Motion. Active (by the patient), Active Assisted (by the patient with some assistance, especially at the start and end of motion range), and Passive (done by the therapist or caregiver). She also defined the term "reflex sympathetic dystrophy" as a cycle of atrophy and pain. When a patient experiences some pain in a muscle or joint, they tend to disuse it. This can lead to atrophy of the affected area, which leads to yet more disuse. This cycle needs to be broken by gentle but aggressive therapy.

Some problems in JDMS patients arise from disuse. Collagen fibers in muscle tissue gradually revert from flexible to rigid, and eventually will cross-link with each other, forming a matrix that is difficult to break. These muscles get stiffer and denser. We also have scarring within the muscle tissue; scar tissue is tougher and denser, and it can be difficult to restore these muscles.

Removable casts are often used in children to aid flexibility. They can be worn at night, but can disturb sleep and can be worn during the day instead. They put a muscle in a gently stretched position. Normal activity can then help restore a full, normal range of motion. This approach can fail if there's weakness and/or pain.

Muscle contracture occurs whern a muscle grows in bulk, but not in length, as bones grow. "Sarcomeres" are muscle fibers that are added to the ends of muscles as they grow. To encourage their growth, muscles must be (gently) stretched to their full length each day. She noted that growth is recognized not to occur steadily, but rather in spurts. Finally, she talked about stretching and splinting to aid in encouraging muscle growth.

Unfortunately, Dr. Stefans' talk was hampered by a practically unreadable display on a TV screen. I took the best notes I could, but I know I missed a bunch of stuff because I just plain couldn't read it.

After the Conferences

The MAA sponsored a "pizza party" after conferences for all the JM families. It was a lot of fun, and a great chance to get to know the other families a little better. There were several JM kids there, a few under age 10 and several teenagers. All the kids seemed to be very good natured. At this point, I really wish I'd brought Julia along! She would have loved it.

After the pizza, one of the other JM parents, who was also at the Conference alone, and I went out and did some sightseeing. We did the "memorial tour" of Washington, DC. We took the Metro into the city, then walked over to the Lincoln Memorial, the Vietnam Veteran's Memorial, the Vietnam Women's Memorial, the Korean War Memorial, the new FDR Memorial, and the Jefferson Memorial. These memorials are truly awesome in their size and scope, and it's difficult to describe them adequately. It was a very nice tour.

Sunday October 3

This was a low-key day, and a travel day. Morning at the conference was light - as I said, there were no JM sessions today, and none of the sessions that were being given looked that interesting to me. We had breakfast, and then there was a meeting. The MAA sponsors Keep-In-Touch (KIT) groups regionally around the country. KIT groups are local support groups. Various members of the groups gave brief talks about how to write a newsletter, how to retain and recruit members, and so on. JM has a KIT group, but because of the low number of JM patients in the MAA, the whole country is the KIT group for JM. This makes actual meetings all but impossible, but the JM KIT group is the only one with a private emailing list. Several of the other groups were unaware of the existance of the mailing list, and thought they might try to set one up themselves.

After the meeting, I packed and took the shuttle to the airport. It was an uneventful trip home (best kind!), and it was good to see my family again.

Tuesday October 5

Julia had another trip to Children's Hospital for an IV pulse Solu-Medrol infusion today. It was her first time we've gone 3 weeks between infusions, so hopefully the numbers will come back as good as last time. Julia certainly seems stronger and has more stamina, and I have to say that I think her rash seems to be getting better, albeit little by little.

Just before we went to CAT/CR for the infusion, we went to the other building and got Julia an influenza shot. I had put EMLA on her left arm, in a great spot to do a subcutaneous injection, but the flu shot is intramuscular. Sigh. Julia was very brave about it, and it didn't even hurt her that much, which was a good thing.

The infusion went very smoothly, and Julia really liked the nurse who did the job today. Julia seems to be shrinking, another fraction of a centimeter smaller than last time (probably measurement error, I don't think Julia is actually shrinking!), and about a pound heavier, but in the same ballpark, and still lower than when she was in in July.

Dr. A.W. came by and chatted for a while before heading off to catch the end of a meeting. I filled her in about how Julia is doing, and about the conference. She mentioned in passing that the flu shat can cause some of the numbers to rise slightly, most notably CK. Dr. S. came by a little while later and we talked about more of the same. I ran a couple of questions past him from information I picked up at the conference - about a different tapering schedule (7 days high dose, rest of the month off and every other day), and her said he had better results with the tapering schedule he uses. He even said they're working to get their results published. We talked about some of the other drug therapies that got discussed, and the reasons why he doesn't use them. All made good sense to me, and I have no reason to doubt his experience.

Finally, after the doctors left, the mom at the next bed stopped me and asked "is that Julia, from the computer?" I thought that was pretty funny. I guess Julia really is something of a celebrity. Her son was also in for a Solu-Medrol treatment. He was diagnosed with JDMS this summer. She was very appreciative of the information I was able to give them through the Diary. It's always gratifying to hear that.

3/30/99 Test: 10.2 293 290 47 36
4/27/99 Test: 11.4 413 348 68 69
5/25/99 Test: 12.4 544 347 59 42
6/22/99 Test: 15.7 943 393 82 59
6/24/99 Test: 8.6 285 318 45 46
7/1/99 Test: 10.6 432 303 49 42
7/8/99 Test: 8.5 284 265 37 23
7/15/99 Test: Not Done 330 290 42 23
7/22/99 Test: 3.0 292 392 53 30
8/5/99 Test: 7.3 161 283 30 25
8/19/99 Test: 7.8 167 291 30 19
9/1/99 Test: 7.7 149 274 30 24
9/14/99 Test: 5.5 119 268 26 20
10/5/99 Test: 7.5 132 271 31 22
Normal Range: 3.0-16.0 4-150 110-295 10-34 6-59

Wednesday October 6

Julia had a very hard time getting to sleep last night, as she sometimes does after a Solu-Medrol infusion. She was exhausted all day, and had to get through gym class and a 2-hour dance lesson. She was just beat at the end of the day. She asked (nicely) if we could defer her Methotrexate shot until tomorrow morning, and we relented.

Dr. S. himself called us tonight (Dr. A.W. is away until Monday) to let us have the latest numbers (see above). As you can see, they are all slightly higher than last time, but remember that 3 weeks ago, those numbers were far better than they expected. Also, she did have the flu shot. These numbers are all still in the normal range, which means that Julia will continue to get stronger. The rest of the numbers are also nothing out of the ordinary: WBC 5.86, platelets 360, hematocrit 37.6.

One thing that was concerning was Julia's von Willebrands factor test. This number often takes up to 2 weeks to come back, and the result from 3 weeks ago was 190, which is above normal (normal has a high of 160). Dr. S. reiterated what Dr. A.W. said yesterday, that this is not a wildly elevated result, but in some patients, the vW test can be a disease indicator. They've been doing Julia's vW about every 6 months, and they've always been normal up to now.

The upshot of this is that we've ordered another vW test this time, and we're going to be cautious and not change Julia's orla Prednisone dose of 15mg/day until we get that result back, probably not until the end of next week at the earliest. We're all a little disappointed at this, but it's better to be careful.

Thursday October 7

It's tough enough getting out the door in the morning, especially on Thursdays (trash day), and extra-especially when it's cold enough to frost the windows on the car. Add to that Julia having to get EMLA as soon as she gets out of bed, and a shot just before we head out the door, and it was a very hectic morning. The shot went as well as they usually do, with a few tears for a minute after the shot. She seems to feel a bit of pressure-type pain as the shot goes in. Nothing a bag of frozen corn doesn't fix, though.

Sunday October 10

It was a cloudy, chilly morning, but we went to 7:00AM mass then headed out to King Richard's Faire in Carver, MA. This is a renaissance fair, with authentic (as possible) period clothing and techniques. Having Ye Olde ATM Machines nearby is slightly distracting, but it was fun while we were there. We saw a fire show, a juggler, and some amazing crafts people. Some of the crafts included metal worker making swords, makers of chain mail clothing and jewelry, woodworkers, glass blowers (very cool demo of glass blowing), and jewelers. Julia even bought herself a bracelet.

It started to rain on and off just as we arrived at the Faire. As the day wore on, it began to rain more consistently and harder. We left earlier than we would have liked because we were all getting wet and cold. Still, Julia walked around for almost 4 hours and she held up very well, although she did nap on the 75 minute ride there and back home. We had a fun time. Julia was in a positively joyous mood in the evening.

Monday October 11

Happy Columbus Day! This is what we call a minor holiday in the US, when we officially celebrate the discovery of America by Christopher Columbus. Julia and her mom had the day off, and I took it as a vacation day.

This afternoon, after running a couple of errands, we decided to go for a walk. There's a path that runs off into the woods off our street, and we headed that way. We ended up walking for over a hour, well over 2 miles, and most of the last half mile was uphill. Julia did an awesome job setting the pace. She was a little winded when we finally got home, but she showed a lot more stamina than I've seen in her in months, since a while before our San Diego trip.

We also noted that no one has made any comments about Julia's rash in recent weeks. We'd endured so many over the summer that I think we've developed a thick skin about them. We can'e remember the last such comment, at least a month or so. This, plus our doctors' comments on how they think it has improved may mean that we are really seeing an improvement in the rash (finally!). This is good timing for a change - Julia gets her school photo taken in a few days.

Wednesday October 13

Julia took her Methotrexate dose tonight, but for some reason, it was more painful than usual. The cold pack didn't even help that much. She cried for more than 5 minutes. Despite this, she absolutely won't hear of giving her the shot in another location, such as her leg. I think part of the problem is that it has hurt in the past, so she is setting herself up for it to hurt every time, and the slightest prick gets magnified. I really don't think we're doing anything wrong with our injection technique, so going to have a doctor or nurse do it isn't going to help. Hopefully, we can work through this.

Friday October 15

Dr. A.W. emailed me the rest of the results from last week - all good news! The Aldolase number is 7.5, thiss well in the normal range, and the von Willebrand factor result was 157 - in the normal range of 50 to 160, and down from the 190 result of the test taken in September. The plan was to drop Julia's oral Prednisone dose from 15mg/day to 12.5mg/day if all was well, but she didn't mention doing that. I'm waiting for an email reply to that.

Well, Dr. A.W. and Dr. S got together and decided that, yes, Julia can drop her oral Prednisone dose to 12.5mg/day, starting tomorrow. Cool.

Saturday October 16

Current Drug Dose: Prednisone: 12.5mg/day Plaquenil: 200mg/day Folic Acid: 1mg/day Tagamet: 400 mg/day Methotrexate: 30mg/week

Sunday October 17

Today was my parents' 40th wedding anniversary (Happy Anniversary Mom & Dad!). Today, we went to a surprise party in their honor. My brother and sister-in-law (whose anniversary is today, too (Happy Anniversary, R & T!)) did almost all the work to arrange the party and the surprise. They scoured their Christmas Card list and talked to their friends to compile an invitation list. They put together a scrap book of photos and memories, and all the guests signed it, too, and Julia took a page and drew a picture. My parents were utterly taken by surprise and they had a wonderful time.

Julia's rash is looking pretty good these days, and only one of the guests at the party asked about it. She wanted to know if Julia had eczema. That's a pretty good guess, since the doctor who originally diagnosed her thought it might be eczema, too.

Monday October 18

Julia was in exceptionally good spirits today. In the morning, all day, and right until bedtime, she was in a great mood, laughing at everything, joking, and even not getting down when we had to say "no" to her. She even said how strong and energetic she felt today. She did have a trip and fall incident at the sitters' today, and she got a small scrape on her chin. I think that's attributable to a loose carpet, and not to any weakness.

Wednesday October 20

I gave Julia her Methotrexate shot this week, and it went pretty well. She had the usual discomfort for a few minutes afterwards, but it wasn't very severe this time, and the bag o' corn worked like a charm. After having done these for several months now, I think we finally have the routine down pretty well.

Thursday October 21

Julia had a rather tired day today. She seemed draggy and lethargic, so much so that someone at school mentioned it and that she seemed pale. By the time she got home, she had a stomach ache and felt a little nauseous. It seemed like it was just indigestion. We gave her a Pepto-Bismal tablet, and that seemed to calm things down a little, but she was still uncomfortable at bedtime. She was so tired (Day After MTX syndrome) that she fell right to sleep anyway.

Friday October 22

Julia did feel better this morning, that stomach ache was gone. Good thing.

Saturday October 23

My company put on a Halloween party for all the enployees' kids today, and we took Julia. She had a great time! She got all dressed up in her groovy costume, a hippie. Julia's mom made the costume, and it came out great! I'll post a photo as soon as I get them developed.

Anyway, Julia had a great time. They had food, and magic, cupcake and pumpkin decorating, and a bunch of other fun activities. There were some really great costumes, and some of the parents even showed up in costume.

In the evening, we decided to go to the movies. Julia had a mild stomach ache and a little diarrhea, but felt well enough to go to out. The girls wants to go see Bats, which I had absolutely no interest in. I went to see American Beauty instead. The schedule worked out right so they both finished close to the same time. They seemed to enjoy their movie, and mine was great, too.

Sunday October 24

Julia again had a bit of a stomach ache this afternoon, and a lttle more diarrhea. She was not feeling bad the majority of the day, and she and I went for another walk in the woods. It was a beautiful day for a walk, and she held up very well. She only took 2 brief breaks in our 50 minute walk.

It took me more than 3 weeks, but I finally finished reading and reviewing the book Raising a Child with a Neuromuscular Disorder. It's a very good book with a lot of helpful ideas and suggestions. It is not without flaws, mostly errors of omission, but I do recommend it, especially for kids with more severe muscle problems with JDMS. Read the review here.

Monday October 25

Julia took another minor fall today at recess - she scraped her elbow pretty raw. I still don't think this is a trend, she seems stronger and stronger to me as time goes on. I'm looking forward to hear what the doctors think tomorrow, when she has her next infusion.

Tuesday October 26

Julia took another trip to Children's Hospital for an IV pulse Solu-Medrol infusion today. Her height is about the same (up half a centimeter), but she's gained a pound. This is not happy trend, she gained a pound last time also. More on that in a minute.

The infusion went very smoothly again, and Julia got the nurse she really liked from last time. She also got a private infusion room this time, and she watched the movie Prince of Egypt.

Dr. S., Dr. A.W., and two visiting residents came by right at the end of Julia's infusion - I was really beginning to think that they weren't going to make it in time. Anyway, the residents checked out Julia's rash, the nail beds, the eyelids, etc. Dr A.W. checked Julia's strength (we had a flat bed in the private room that made it easier to do the strength tests) and said her strength was excellent! It's always good to get that objective view, even when I think she's doing better.

Dr. S. asked about Julia's weight; she has gained 2 pounds in the last 6 weeks, whe she should be losing weight. He told us that we need to get her more active - at least 30 minutes of activity at least 3 times a week. He's absolutely right. Julia only gets one day a week of physical activity, Wednesdays when she has gym and dance class. We are going to start making an effort to go for a walk every day, when possible. It's not always going to be possible, but if we can get 2 or 3 walks in a week, that'll do it. We've also not been eating very healthy lately, and we're going to work on that, too.

The mom that we met last time stopped by to say hello. Her son was in for another Solu-Medrol treatment, he's been getting them weekly since he was diagnosed last month. She said he's been having a very tough time coping, especially with school. We talked about it; I'm not a counselor, and we didn't have many problems with Julia. I'm not sure how much help I was.

3/30/99 Test: 10.2 293 290 47 36
4/27/99 Test: 11.4 413 348 68 69
5/25/99 Test: 12.4 544 347 59 42
6/22/99 Test: 15.7 943 393 82 59
6/24/99 Test: 8.6 285 318 45 46
7/1/99 Test: 10.6 432 303 49 42
7/8/99 Test: 8.5 284 265 37 23
7/15/99 Test: Not Done 330 290 42 23
7/22/99 Test: 3.0 292 392 53 30
8/5/99 Test: 7.3 161 283 30 25
8/19/99 Test: 7.8 167 291 30 19
9/1/99 Test: 7.7 149 274 30 24
9/14/99 Test: 5.5 119 268 26 20
10/5/99 Test: 7.5 132 271 31 22
10/26/99 Test: 7.5 105 275 28 20
Normal Range: 3.0-16.0 4-150 110-295 10-34 6-59

Wednesday October 27

Dr. A.W. emailed us the lab results from yesterday. They are *excellent*!! See above - Julia's CK of 105 is the lowest it's been in almost a year. We're thrilled to hear this. Her other numbers were in line, too - WBC of 5.6, Hematocrit of 38.6, and platelets of 385. We're going to hold off on changing her medication until we hear back on the Aldolase and von Willebrands results, hopefully early next week.

These results are just awesome. I want to thank everyone who has been praying for Julia in the past weeks and months. We know that your prayers have helped, and that the healing she's experiencing is in no small part because of your intervention. It feels like we have family all over the world that knows exactly what we're going through. We are praying for you all, too, every day. Again, thanks so much.

Thursday October 28

Julia decided she didn't want her Methotrexate shot last night, so I gave it to her this morning. It went very well, and bothered her less than it usually does. It always makes for a hectic morning when we do this, especially on trash day :-).

Friday October 29

This evening, Julia's school had a genuine Halloween party, with the kids and the parents invited to dress themselves up. I decided to forego a costume (and pay a $1 no-costume tax). Julia wore her very cool hippie costume, which her mom made. Mom also made herself a pumpkin costume. Very cute, complete with orange blush, eye shadow, and nail polish, but I've been forbidden from posting any pictures of it here :-( . If you want to encourage mom to let me post a picture, don't tell her where you heard about it.

Sunday October 31

Happy Halloween, everyone!

Julia did a little trick-or-treating at some out-of-town relative's houses in the afternoon, and we did just our neighborhood in the evening. With daylight savings time ending in the wee hours of this morning, it certainly gets dark early now.

Julia did great!! We just went to the 40 or so houses on our street, but almost half of those houses require a climb up a steep driveway or set of stairs. Julia climbed them all (it's amazing what she can do when properly motivated!). We were joined by a friend, a 7th grade boy, about 20 minutes after we started. Julia got positive comments from just about everyone about her costume.

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Updated November 4, 1999
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