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Possible new dx for child who is nonverbal #251715
05/04/13 02:36 PM
05/04/13 02:36 PM
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EmmasMom Offline OP
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My daughter is 9 and is unable to communicate specific information about what she is experiencing as she has Angelman Syndrome which results in no spoken words. This has created challenges in dx pain she has been in for the past 6 years. Her behaviors were indicating pain in lower legs but we were unsure of feet, knees, etc. she began walking with a walker when she was 2 (good for someone with Angelman Syndrome). Began walking some without walker at age 3. At around 3.5 we began to notice various pain behaviors. It has been years of orthos, rheumatology, PT, etc...all of whom felt she was having pain but could not figure out specific cause. She has times of being in less pain to the point of going from almost all in wheelchair to independent walking for short distances. She has been having increased times of inflammation in her feet and knees, most often swelling and pain seems to be on right side throughout all of this. Recent MRI showed inflammation in SI joint. Awaiting lab tests. Has not seen rheumatology in over 3 years (previous ones said no rheumatological issues so no need to continue with their service and now we live in different city). Now the rheumatologist here looked at MRI and spoke with ortho dr. They are thinking she may have AS. Still waiting on labs. My question for this group is could you tell me more about what your children experience in terms of pain since my daughter is unable to tell me specifics. Is it constant, any shooting pain, things they have noticed that help or make it worse..etc.

Re: Possible new dx for child who is nonverbal [Re: EmmasMom] #251771
05/06/13 03:28 PM
05/06/13 03:28 PM
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Cincinnati, OH
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Hi Mom - my children don't have spondylitis (SpA) so I will let others tell you how their kids experience it. You may want to browse the main forum as the subject "how would you describe your pain" comes up from time to time.

In another recent thread, someone's 12 year old son had a nuclear med bone scan which showed increased uptake in his SI joints. His doctor explained that this was not due to inflammation but is a normal part of adolescent growth. Bone scan is not a specific test - many types of bone remodeling look like "hot spots." But the inflammatory lesions of SpA have been characterized relatively clearly so while one would hope the radiologist & docs know what they are looking at, maybe you can hold out hope that this is not inflammation but normal signals of age-appropriate growth?

Labs can help validate/confirm a diagnosis if they match up with clinical signs/symptoms; but if labs like HLA-B27 and inflammatory markers ESR and CRP come back normal, it doesn't mean she doesn't have SpA. There is no single test that absolutely confirms/refutes this diagnosis, unfortunately.

This feels dumb but I will ask anyway - is she seeing all pediatric subspecialists for her issues? If not, she should be, if at all possible, as this disease does often present differently in children than in adults.

Many people with inflammatory conditions like SpA find they get some (if not 100%) relief from a daily NSAID. Have any of the doctors proposed an NSAID trial? Or an oral steroid taper? Many of us adults here have had a positive response to a steroid taper so long as the initial dose is high enough (the 6 day "dose packs" are generally inadequate for this amount of systemic inflammation.) Good response to steroids helps confirm that there is an inflammatory process at the root of the pain. So if NSAIDs & steroids have not come up, that may be something to ask about.

Good luck - let us know as you learn more. It is hard enough to know for sure what kids are feeling even when they are able to talk ... your daughter is fortunate to have you on her team, working so hard to get help for her!


Jen, 42, happy partner of James and Moma to Evan, 14, & Lucy, 12.5 (Crohn's dx @ age 3; on Remicade since April 2010.) I take piroxicam, Flexeril, & Nucynta ER nightly. 3 anti-TNFs didn't pan out for me.

"Science is the father of knowledge, but opinion breeds ignorance." -- Hippocrates
Re: Possible new dx for child who is nonverbal [Re: EmmasMom] #251814
05/07/13 04:57 AM
05/07/13 04:57 AM
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EmmasMom Offline OP
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Jen, thank you so much for your response and suggestions. Emma is seeing all pediatric specialists. PT, ortho, neurology, rheumatology, pulmonary and pediatrician. We just got call today that she will be able to see rheumatology tomorrow (only one peds rheumatologist in area so earliest appt was 4 months from now. After seeing MRI and discussing case with ortho, the rheumatologist moved her to top priority for first cancellation which only took a few days. Hoping we will get results of the HLA-B27 labs during that visit. Your comments have given me more questions and talking points for the dr. visit.

Re: Possible new dx for child who is nonverbal [Re: EmmasMom] #251815
05/07/13 05:01 AM
05/07/13 05:01 AM
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EmmasMom Offline OP
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Forgot to add, currently on Celebrex. In past has tried naproxen and neurontin. Only steroids have been for respiratory issues.

Re: Possible new dx for child who is nonverbal [Re: EmmasMom] #251848
05/07/13 06:59 PM
05/07/13 06:59 PM
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So glad the rheumy squeezed her in! I'll be watching for your update.


Jen, 42, happy partner of James and Moma to Evan, 14, & Lucy, 12.5 (Crohn's dx @ age 3; on Remicade since April 2010.) I take piroxicam, Flexeril, & Nucynta ER nightly. 3 anti-TNFs didn't pan out for me.

"Science is the father of knowledge, but opinion breeds ignorance." -- Hippocrates
Re: Possible new dx for child who is nonverbal [Re: EmmasMom] #251994
05/10/13 03:04 AM
05/10/13 03:04 AM
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EmmasMom Offline OP
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Dr is redoing MRI to confirm dx. Feels fairly certain it is. Talked of starting anti-TNF medications. Reading the potential side effects are scary. My daughter already has epilepsy, needs CPAP at night for sleep apnea and is not able to tell us when she begins to feel ill. We have to go totally by behavioral observations.

Re: Possible new dx for child who is nonverbal [Re: EmmasMom] #252008
05/10/13 01:15 PM
05/10/13 01:15 PM
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JenInCincy Offline
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The potential side effects of these drugs ARE scary - make sure you put them in perspective, though. The worst ones are very rare, and some of the "black box" warnings that came out of clinical trials have been revisited with post-marketing studies & data. For example, the increased risk of serious infection (requiring hospitalization) and cancer was overstated originally; subsequent analysis published in a major journal showed that people taking anti-TNFs had no greater risk of serious infection or cancers than people with the same diseases NOT taking anti-TNFs. The only exceptions were with Remicade. I think that is probably because its biological material is chimeric (part human & part mouse) and all the other anti-TNFs are human only.

Remember to balance the possible risks with the potential benefits of the meds ... they don't help everyone but they are far, far, far more likely to help than to hurt. Did the doc check her for HLA-B27? Studies of anti-TNFs in adults have shown that they work better earlier on in disease course, and people who are HLA-B27+ seem slightly more likely to respond to them (though many who are B27- also have success!)

I really do understand your fear of the meds as my daughter started on Remicade (the worst safety profile of all the anti-TNFs but a great track record for treating Crohn's including pediatric) when she was 8. I had been reading about it (good, bad, and ugly) for 5 years prior since it was the first anti-TNF and the go-to drug in this class for Crohn's disease. It felt like an inevitability that she'd go on it and sure enough, she did. Although Lucy can communicate verbally, her disease doesn't communicate all that well (she has rarely been symptomatic since her first med-induced remission 8 years ago - even when her inflammatory marker was literally off the chart.) So having her on this medicine doesn't produce any results that we can see or that she can feel. Yet it brought her inflammation down a lot, very quickly. We have to trust, though it is hard.

I hope you can work with your daughter's doctors to come to a treatment plan that you feel good about! It sounds like she has a great team. And she also has a great mom in her corner smile You are so tuned in to her - I bet you will be able to tell by observing her, whether or not a medicine works on her pain.


Jen, 42, happy partner of James and Moma to Evan, 14, & Lucy, 12.5 (Crohn's dx @ age 3; on Remicade since April 2010.) I take piroxicam, Flexeril, & Nucynta ER nightly. 3 anti-TNFs didn't pan out for me.

"Science is the father of knowledge, but opinion breeds ignorance." -- Hippocrates
Re: Possible new dx for child who is nonverbal [Re: EmmasMom] #253372
06/05/13 06:34 PM
06/05/13 06:34 PM
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Hi EmmasMom-
Just seeing your posts for the first time. I am so sorry you have this worry in addition to all of the other issues. I can't imagine trying to figure out what your daughter is dealing with when communication is limited. It sounds like you are finally getting some results- so happy for you!

My son was diagnosed at age 11 but had been having various issues for a long time before that. Doctors kept putting us off telling us his symptoms were from overuse in athletics (he is very active). As weird as it sounds, we were lucky because at 11
both of his ankles swelled significantly. Finally there was visible evidence of a problem and he was taken seriously and diagnosed. I am only listing his symptoms so you can compare, however symptoms vary so much from person to person that I am not sure how useful this will be.

Initial symptom was pain in both heels, to the point that it was difficult to walk sometimes. I took him in numerous times for this over the years, and was always told it was from overuse.Later we found out that this is a common first sypmtom in juvenile patients.

Hip pain- It was often painful enough that he hurt to walk. He has always done a lot of sports and it was to the point that he was coming out of games-very unlike him.

Tired- he would have periods where he would sleep every minute he could and tell me he was too tired to play soccer- I knew something was wrong when I heard that!

Inflammed ankles and knees to a lesser extent- Visibly swollen so that they hit when he walked.

His pain was definitely in the joints, and generally an achy feeling, with shooting pain radiating from the joint in some cases. In his case, it has generally been on both sides simultaneously, although sometimes more significant on one side tthan the other. One reason he was immediately referred to a rheumatologist when his ankles swelled is that the swelling occurred on both ankles- the Dr. felt that was very significant.

He started anti-TNF drugs at 11; first Enbrel and then Humira. He also was on Naproxin and Methotrexate initially but eventually went to Enbrel only.I remember when the Enbrel first started working, he casually commented that he felt so good- that he thought it was normal to feel the way he felt before the meds started working. Looking back, we feel like he had this when he was very young. He always had a stiff, "cute" little walk.

He has started back on daily Naproxen recently as his hips bother him now. He just had x-rays so we are waiting for results. I know it is scary to start anti-TNF's, and I can't imagine in your case where your daughter is already dealing with other medical issues and meds. We weighed the pros and cons seriously before starting my son on Enbrel. We decided that the risks were fairly low as long as he was monitored, and after seeing the results, it was definitely the right way to go for us. When he tries to stop or cut down on his Enbrel, he is obvioulsly stiff and in pain. I know that the inflammation has permanent effects on joints over time, and for us his medds have helped curb the inflammation.

Keep us posted on your daughter's progress and best wishes to both of you!

Re: Possible new dx for child who is nonverbal [Re: EmmasMom] #255411
07/22/13 07:33 AM
07/22/13 07:33 AM
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Jen, Thanks for info on meds. This make me feel much better. Daughter 17 just diagnosed with inflammatory arthritis possibly AS. Doc said we would consider humara if thing are not significantly better at next appointment. This info makes me feel much better about that posibility.

Re: Possible new dx for child who is nonverbal [Re: EmmasMom] #255686
07/31/13 02:38 AM
07/31/13 02:38 AM
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Hi Scaredmom.

Humira provided significant relief for my boys when they were first diagnosed. Most doctors are moving quickly to anti-TNF drugs in treating Spondyloarthropathies - especially in juvenile patients. When my youngest first started getting his Remicade infusions at the children's hospital, I was surprised by the size of the infusion room and the number of kids being treated. Over the past few years, I have met quite a few kids on anti-TNF drugs. I have not yet heard of any of them having severe side effects and quite a few who have had fabulous results.


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