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    Wife to Bryce and mother of three children, LJ, Noah, and Sofia. Living in a very "special" world of special needs. LJ has cerebral palsy, myoclonic seizures, developmental delays, and cortical visual impairment. This is our yellow brick road.
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We took LJ to his first dermatologist appointment, thinking it would be futile (ok, that was just me).  I was wrong.  In fact, it was a pretty good experience, despite being 30 minutes late (damn construction!)

When we stopped by the height/weight room, I groaned inside.  How many times do I have to explain to people that LJ cannot sit or stand on his own.  He’s in a fully supportive pediatric wheelchair that many professionals recognize, but that doesn’t stop them from their barrage of questions.  After explaining something 999,999,999 times, it gets old. dsalfjdsjf

This time, though, the nurse waited by the standing scale, where Louie picked up LJ and got weighed together.  Then Louie weighed himself.  She did the math and reported he was 23 pounds some odd ounce.  Wait.  Did she just say 23?  They reported that at the PH Study, but they didn’t sound sure, so I took it with a grain of salt.  I know one pound doesn’t sound like much, but to parents who are constantly adding calories anywhere they can to a boy who hasn’t budged in weight in what, 6 months?  A year?  It’s incredible.  Especially after the recent illness and lack of appetite that followed.

So we described the “rash” to the nurse (red, hot extremities, seemingly for no rhyme or reason, either both hands, one hand, both feet, one ear, etc) that typically last about 5 or so minutes.  After a short wait, a few people shuffled into the room, one I recognized as the doctor by her coat, despite her laid back appearance.

She listened to us and examined him, first addressing a lesion (and what I thought was a mole).  She immediately diagnosed him with mastocytoma and said to watch it.  She then gave us a list of drugs he should avoid, which honestly surprised me.  But really, I never paid attention in science class so what do I know?

Then she diagnosed his rash as Erythromelalgia.  Holy crap, that’s what my Google search came up with!  I thought.  As she explained what was happening, I tried not to let my eyes glaze over and actually try to understand what she was saying.  I tend to be a hands on kind of learner though, so when I got home I went back to Dr. Google.

In case you’re wondering: Erythromelalgia, also known as acromelalgia, Mitchell’s disease (after Silas Weir Mitchell), red neuralgia, or erythermalgia,[1]:816 is a rare neurovascular peripheral nerve disorder in which blood vessels, usually in the lower extremities(or hands), are episodically blocked, then become hyperemic and inflamed. There is severe burning pain (in the small fiber and sensory nerves) and skin redness associated with the return of blood flow following the transient vasospasm. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia and stress. Erythromelalgia can occur either as a primary or secondary disorder (i.e. a disorder in and of itself or a symptom of another condition). Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytosis, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. Primary erythromelalgia is caused by mutation of the voltage-gated sodium channel α-subunit gene SCN9A.*

So from what I gathered, it could be an abnormal brain thing or not.  The triggers seem pretty consistent with LJ.  Insomnia, stress, exertion… even heat seem to trigger it for him.  He seems uncomfortable but probably not in too much pain.  We are to treat with cool packs, which since LJ doesn’t really like cold things, won’t be awesome.

Another mystery solved!  It sucks not knowing and understanding what’s going on with your child, especially when they can’t tell you something.  I’ll read all the science books in the world to better understand what goes on with LJ. 

Here are a couple of pictures that I forgot to bring to the appointment (but they let me email them!).  Poor baby.

*From Wikipedia.org


2 Responses

  1. Poor, sweet guy… look at those hands! At least you know what it is now and I’m sure that’s a huge relief. And that’s so awesome that he gained a pound! You guys are really doing an amazing job!

    • It took those pictures to have a doctor take us seriously. I’m not sure what they thought we were talking about or if they thought we were crazy but I’m glad we know. It sucks we can’t really do anything about it but I’m starting to get use to that… almost. Feeling helpless sucks!
      Thanks Morgan 🙂 we try!!

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