Monday, December 10, 2012

Lobster Girl

The thing about having a special needs child is that even when everything is "good", everything is not GOOD.    People ask all the time how Anabelle is doing, and I always say, "She's doing fine" or "Can't complain", and it's usually the basic truth, but the thing is that there is always SOMETHING going on, and whatever it is is usually more than a one-line answer.  Sometimes, what is going on develops so slowly that before you know it A LOT has gone on, and nobody knows a thing.

Such is the position we now find ourselves in.  There has been a medical situation going on with Anabelle for about 6 months now.  I have only mentioned it to a few people because it developed slowly, and we really had no idea what is was.  I kept waiting to have all the information, however, at this point, we still don't, and neither do her doctors, and as it has become a significant force in our lives, and it seems necessary to catch you all up...

This past June, we noticed a rash forming around both of Anabelle's elbows.  We couldn't figure out what it was from, but as it faded, it left behind patches of hardness under her skin.  A few weeks later, she happened to be hospitalized with the adenovirus, and we pointed out the patches to the doctors, who x-rayed them.  They were determined to be calcifications.  An endocrinologist came in and told us that calcifications at points of trauma were not uncommon for anyone, and perhaps it was her arm braces that were causing them?  He seemed relatively unconcerned.

Well, over the next few weeks, the calcifications started to spread up her arms.  We met with the orthopedist who said NO WAY were the braces causing this.  A few weeks later, they started sprouting in her legs.  While the ones in her arms stayed fairly small and contained, the ones on her legs spread like wildfire.  At this point a diagnostic specialist (paging Dr. House) had been brought on and gave it a tentative diagnosis of Ossificans Myostitus Progressiva.  Luckily for us, the leading expert in the country on this disorder (which affects 1 in every 2 million, apparently the 1 in every 100,000 of lissencephaly wasn't rare enough) is located right here in Philadelphia.  Following a CAT scan of the legs, though, he determined that this was NOT exactly ossificans, just calcifications.  We were referred to a rheumatologist to explore autoimmune diseases.

Usually invisible to the naked eye, when Anabelle's skin is heated post-bath, you can make 
out some of the areas where the calcifications lie.  
The red patches show it here, this was about two months ago, 
they have since spread

Picture, if you will, every rheumatologist in the hospital swarmed around your child, poking at her hardened limbs, pouring over the CAT scan and telling you repeatedly, "We've never seen anything like this."  The CAT scan showed that the calcifications in her legs were almost totally encasing them.  The word "exoskeleton" was used more than once.  Our daughter is turning into a crustacean, and the doctors are flabbergasted.  Look for "Anabelle Syndrome" coming soon to a textbook near you.

Her skin is stretched so tightly over the calcifications that you can see the pattern left by her socks

At this point, what they can say is that it does most closely resemble ossificans (although is NOT the same), and that they would like to treat it in a similar manner, because it is all they can think to do.  See, if they cannot stop the progress, it is possible the calcifications could start strangling the circulation in her legs, and if they start growing in her torso (which is NOT happening so far), then they could affect her organs.  So, sometime right after Christmas, Anabelle and I will be having an overnight in the hospital while she receives a treatment that sounds to be something of a phosphorus infusion (phosphorus being the chemical that works counter to calcium).  The hope is that this will slow the leaching of calcium from her bones.  We are not clear right now whether this will be a one time procedure, or something that needs to be repeated periodically throughout her life.  I guess it depends on the outcome.  It IS pretty certain that this will do nothing for the calcifications already present.

When Anabelle tenses her leg, you can see the skin rippling over the calcifications

So, here's the thing: we were ready for seizures, pneumonia, GI problems and sleep disorders.  We were NOT ready for our child's body to attack itself with ingested minerals.  We understand seizure meds, gtubes, pulse ox machines, EEGs, traches and catheters.  We do NOT understand the chemical warfare our doctors are preparing to launch on our child.  The complexities of this affliction, whatever it is, and the treatment they hope will work for it are so far above our heads that no matter how many questions we ask, at some point we just need to say, "Are we taking this leap of faith, or not?"  And that is really tough to swallow.  We have become pretty well educated in medicine for a building contractor and an art appraiser over the past two and a half years, but we have run up against a wall with this one, and it makes us very uncomfortable to not be fully confident in the medical decisions we have to make for our child.  We appreciate your good thoughts to help guide us through this in the hopes that we make the right choices...



  2. Kate - so sorry you are facing ANOTHER difficult choice. Just caught up with your mom and she said that maybe it is reversing itself a little. My thoughts are with you all.

    Mary V