Wednesday, April 28, 2010


Hi all, 

Sarah took Ethan in for ERT yesterday and had an extensive conversation with Dr. Harding, the primary Hurler's guy there, who we only seem to see about every three months.  

They covered a lot of ground yesterday. My head was spinning when Sarah filled me in, and I knew there was no way I could keep it all straight for a journal update.  

So....  Sarah got to write the journal update this week!

Just thought I'd let you know about the change in authorship in case you got down to the bottom and wondered about my sudden zeal for seeds and gardening.

-t

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More interesting conversations...generally good news and some remaining frustrations.
The last couple of days have been busy ones and we’re not done yet this week, but we’ve learned some new things and thought we ought to update everyone.
As you may remember, our hero, Ethan, has continued to have trouble sleeping and we have been concerned that we’ve had to give him multiple over the counter painkillers to get him down for 4-5 hours at a time at night.  In order to rule out possible hydrocephalous as a cause, Todd took Ethan in to Doernbecher on Monday for a sedated brain MRI and lumbar puncture—the MRI to check the status of the vessels in his brain to see if there is enlargement and the LP to check the pressure in his spinal/brain fluids.  We’ve heard from numerous families that the MRI isn’t enough to rule out hydrocephalous; you really need to have the pressure check from the LP.  Well, the MRI went splendidly, but the docs, though they tried twice, couldn’t get the LP done due to Ethan’s kyphosis and to the fact that when they bent him into position for the LP, his breathing wasn’t so good.  The good news is that the MRI showed no change in ventricle size from his previous MRI of last fall and they saw increased myelination of the nerves meaning his brain is developing normally. 
While Ethan was at Doernbecher for his weekly checkup and ERT, I talked with Dr. Harding, the genetics specialist, about whether we needed to try and get the LP done (they can try it using a radioactive dye in his body to light up the spaces between his vertebrae on a fluoroscope—this would let them better see where to poke the needle given that his kyphosis has crunched those spaces down quite a bit.)  As I described Ethan’s sleep problems, Dr. Harding said that they really didn’t sound indicative of hydrocephalous to him and that he was satisfied with the MRI results.  We did end up deciding to add a regular measurement of Ethan’s head circumference to his weekly check in and reviewed symptoms of hydrocephalous to look for (extra sleepiness, holding his head) so we can watch extra carefully for any signs that we might need to push for that fluoroscope LP.
The extra good news is that Dr. Harding says Ethan looks fantastic!  Although he is behind developmentally, he is making good progress.  Also, he seems to have good elasticity and range of motion in his hands and legs and feet which indicate that the GAG buildup has been really reduced.  He noticed that Ethan has good finger strength (can grip a regular sized pencil well) and uses his hands fairly normally.  In addition, Ethan’s liver and spleen were not noticeable by feel, so that means they’re back to normal size too!  And, he said Ethan’s face just looks “softer.”  Overall he is very pleased with Ethan’s progress. I talked with him extensively about our worries about Ethan’s dropping chimerism levels and enzyme percentage levels as well as our worries about Ethan becoming symptomatic again (the never-ending runny nose) that caused us to put him back on enzyme replacement therapy again.  Dr Harding  reassured us that the 30% of normal enzyme level that Ethan has is very protective of neurological function and that for the somatic symptoms, we can work to see if maybe we can reduce the ERT to once every two weeks or maybe once a month depending on how Ethan responds.  He’s been trying this out with a patient with Hurler-Schie down in Southern Oregon, but there’s just no data out there on how much enzyme is enough to prevent or delay somatic problems down the road.  Part of the trouble is that while we can easily measure enzyme levels in the blood (serum levels), and we can measure the percentage of normal enzyme coming from the white blood cells (indicates the enzyme being produced by the graft), and we can monitor the mucopolysaccharide output in the urine (higher levels indicate lower enzyme function), there is no good way to measure enzyme function directly in the brain tissues where it is most important.  As far as brain function goes, Dr. Harding noted that people with the milder phenotypes of MPS I (Hurler-Schie and Schie types) sometimes have as low as 10-15% of normal enzyme levels and are unaffected in their brain development. So we are incredibly relieved.  Wish we could have gotten as clear a response right when we first heard about the lowered enzyme and chimerism levels several weeks ago.  Seems like when we ask one person and they have to go to someone else and then it gets filtered back through one or two other people, something gets lost (ever play “telephone”?)  So, we’ll continue to work to find methods of communication that work better.

The frustrating bit is that we still don’t know why Ethan isn’t sleeping well and why we still seem to have to keep dosing him with Acetaminophen and ibruprophen and sometimes oxycodone to get him to rest.  I asked Dr. Harding about this central nervous system irritation we’ve heard mentioned.  He says that this usually refers to what happens in patients with Hunter’s syndrome where they just can’t sleep because they are “wired.”  He says some of these kids sleep 3-4 hours per night total.  In other words, it doesn’t match what we see in Ethan at all.  Ethan gets tired and goes to sleep, but wakes up often and then goes back to sleep.  The nurse practitioner we saw yesterday said that some of it may just be developmental--kids at this age can develop “sleep terrors”, which matches some of what we’ve seen (when Ethan doesn’t seem to come fully awake, but just wails and thrashes around), and many kids go through a change in their sleep patterns at this age which can lead them to be more wakeful for awhile.  She also noted that many, if not most, transplant patients have some trouble sleeping.  So, we are back where we started, though we have had some of our worst fears ruled out.
One minor thing that cropped up yesterday is that Ethan’s potassium levels were a bit high, so they needed to do an EKG on him.  Of course, the EKG leads were not going to be able to read through the dressing we had over his Hickman catheter, so we had to remove the one we had on there and replace it with a smaller one.  This is a process that is not fun and requires at least two people to accomplish, with Ethan crying and wriggling the entire time.  Then, naturally, we had to put new sticky bits on him (10 of them—chest, shoulders and legs) and hook wires to them to get the EKG.  Thank goodness the EKG itself takes only about 30 seconds as I had to hold him down and keep him from pulling off the leads.  Then she got to peel the sticky bits off again (more hair pulling as he’s hairy all over.)  So Ethan and I and the grandfolks were all pretty tired by the time the day was done.  (The EKG was fine, by the way.)
Spring is in full swing here in Oregon.  There was a gorgeous rainbow in the sky yesterday afternoon, the songbirds are out in full voice, and I got the seeds for her garden in the mail the other day.  The boys are enjoying wagon rides down to the neighborhood stream to see the ducks or digging in the yard with their shovels and dump trucks.  The lilacs and tulips are blooming and everything is very green (including the grass, which we’ve been mowing since March!)  We have good jobs and wonderful boys who get us to have pillow fights, give them piggy-back rides, and play cars and trains every day.  What else can we say, but that life is good?  We get our bumps and bruises along the way, and then we look at each other and smile, help each other up, dust ourselves off, and hop right back on that yellow brick road.
Peace and joy for us all.

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