Wednesday, April 21, 2010


Was it only last Friday that I did an update?  It's been a busy few days since then. 

In the last update, I talked about the pain and discomfort that Ethan's been having at nap time and bed time, and that it seemed to be getting worse day by day and week by week. 
Last Friday night, it got particularly bad, the ibuprofen and Tylenol no longer seemed to be working.  Ethan seemed to have a moderate amount of pain and discomfort when I was trying to put him to sleep.  I swaddled him tightly and gave him some oxycodone and that helped him settle and sleep through the night. 

Saturday evening, we gave Ethan his Tylenol and ibuprofen a fair bit earlier than we had been to help ensure that it had kicked in by the time we went to put him to sleep.  He settled and fell asleep reasonably well, but then woke up at 12:30 crying very strongly, moving around a lot and was pretty inconsolable. Sarah swaddled him tightly and we gave him some oxycodone. 

Sunday, we talked to the pediatric transplant doctor on call to adjust his pain med dosages.  So he had a good night's sleep on Sunday.   

Monday, we went into the hospital for his weekly checkup and for his enzyme replacement therapy, and to talk about Ethan's condition.  Unfortunately, Dr. Nemecek is working over on the in-patient side this week.  So, our appointment was with one of the nurse practitioners who is very good, but ended up relaying a lot back and forth between us and Dr. N. 

We all agreed that Ethan's pain issues are getting worse, that the pain killers were a short-term solution only, and that we need to move as aggressively as we can to get to the underlying cause. There are a couple of things we talked about, hydrocephalus and central nervous system irritation. 

Hydrocephalus, or excess fluid in the brain, is a common issue with Hurler's kids.  Ethan's pre-transplant MRI in October showed borderline hydrocephalus. It's possible that this has gotten worse since October.  However, aside from the night time pain issues, Ethan isn't otherwise showing any of the common signs and symptoms of hydrocephalus.  Nonetheless, given his earlier results and his current condition, the doctors agreed to move up his follow-up MRI that had been tentatively on the schedule for the fall.  If it should turn out to be hydrocephalus, the treatment will be surgery to place a shunt to drain the fluid from his brain into his body. 

The question of central nervous system irritation is an interesting one.  The way the nurse practitioner explained it, in some metabolic disorders, like Hurler's some patients suffer from central nervous system irritation.  The symptoms would be similar to what we're seeing in Ethan, and it's possible that the irritation is particularly acute when he's fatigued or at a particular stage of sleep or near sleep.  Unfortunately, I couldn't find much information on-line about this, so I don't have any more information that might allow us to verify that the symptoms are consistent.  It Ethan's pain is caused by irritation or inflammation of his central nervous system, then hopefully the enzyme treatments will help. 

Over the weekend, I also posted some information about Ethan's condition on one of the MPS community websites.  Many of the parents wrote that MRIs aren't conclusive in diagnosing hydrocephalus in Hurler's kids and that the doctors needed to do a lumbar puncture.  So I e-mailed that off to the doctors yesterday, evidently they conferred and agreed to do both the MRI and LP on one sedation sometime in the next week or two.  The MPS community is pretty close and very supportive, and we're very thankful to be able to talk with a lot of other parents who have been where we are. 

While we were discussing Ethan's immediate condition and concerns on Monday, we were also talking about the overall condition of  his transplant and his enzyme levels. 

Our doctor has said that it's natural for chimerisms to fluctuate through the first year post transplant.  Primarily, we wanted to ensure that Dr. Nemecek had spoken with Hurler's specialists and would have some understanding of how likely it may or may not be that chimerisms in Huler's kids might rebound upwards during the first year and that we kept in mind that this is a degenerative disease so that if we need to pursue a second transplant we make that decision early enough. We don't want to find that we've waited so long in the hopes that they'll come up that Ethan's neurological condition continues to deteriorate to the point that we loose the kid that we've got now.  

Yesterday afternoon, Dr. Nemecek called and spoke with Sarah.  She's spoken with Dr. Orchard, one of the head MPS doctors in the country, and with Dr. Harding, the metabolic disease specialist here.  When Hurler's kid's enzyme levels are in the 30-50% range, no one is quite sure what to do. They're not sure if the amount of enzyme that is getting to the brain to slow the neurological damage outweighs the significant risks of a second transplant in the hopes of a better result. 

And I think that pretty much sums up where we're at. Ethan has avoided a lot of significant risks of the transplant itself.  First, he survived, and second he's not encountering significant and potentially lifelong graft vs host issues.  If his enzyme levels stay where they are today, the best outcome might be to hope that enough enzyme is getting to his brain and to augment that with weekly enzyme treatments for the rest of his life.  

The reality is that there are a number of types of MPS for which transplant is not an option, and some types for which there is no treatment at all.  There are some types of MPS for which the only treatment is lifelong enzyme replacement.  We are very lucky to have the range of options that we do.

We're a long way from knowing how this will all turn out.  But our doctors are talking to the people they need to be talking to, and we're taking the steps that we need to take to support Ethan's current condition and to look down the road a bit. 

On a very different note.  Last night all four of us went to Chuck E. Cheese to attend the birthday party of one of Caleb's classmates.  Caleb had a great time, and it was a nice diversion for Sarah and me.  Ethan wasn't sure what to make of Chuck E Cheese's.  First, there were all these kids running around and these games with lights and sounds and this large furry rat running around.  He held on to Sarah pretty tightly for the first 20 minutes or so, as if to say, "Nothing in my experience has prepared me for this!"  But after a while he got down and checked things out, and I think he had a good time too.  Thanks for checking in on us again.

Oh, Marian had asked for more pictures.  There are some pics from Feb and March here.    And a range of pictures from last fall through last week here

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