Friday, July 30, 2010

Minnesota Trip Recovery Day +3

Our trip to Minnesota was a quick and tiring whirlwind, but overall helpful and worthwhile.  We learned a little more about evaluating the need for a second transplant, and got some good news and good recommendations about Ethan’s mental development and treatment needs.  We also made some decisions about where to do the second transplant if it’s needed and about Ethan’s long-term hurler’s care.  We’re also wondering if there’s anyone in the area who can help shuttle Ethan to/from some upcoming speech therapy appointments? (See the end of this post for details.)

We arrived in Minneapolis late afternoon on Saturday, and checked into the Ronald McDonald House a couple of blocks from UMinn.  On Monday morning we met with Dr. Orchard, head of the metabolic disorders transplant unit at the University of Minnesota Children’s Hospital.  We reviewed Ethan’s history and Dr. Orchard examined Ethan.  Dr. Orchard noted the range of issues that we’re already aware of slight corneal clouding, spinal kyphosis, various orthopedic issues, but didn’t highlight any area as being out of the norm or requiring immediate intervention.

On the transplant side, we discussed the current state of Ethan’s chimerisms (20-25% engrafted) and the implications for his neurological development and a possible second transplant.  

In previous posts, I’ve talked about the fact that it’s impossible to measure the amount of enzyme in Ethan’s brain.  I’ve also talked briefly about the fact that there is an attenuated version of Ethan’s disease called MPS 1 - Scheie and that people who suffer from Scheie have greatly reduced levels of enzyme in their bodies but do not suffer any neurological deterioration.   All of which raises the question of how much enzyme Ethan’s body needs to produce naturally in order to avoid neurological deterioration?

We talked to Dr. Orchard about this, and his response was somewhat helpful.  He said that the level of enzyme in Ethan’s body is not necessarily the same as the amount in his brain (seeblood brain barrier). Hurler’s syndrome is caused by mutations on the gene that is responsible for the production of the alpha-L-iduronidase enzyme.  According to Dr. Orchard, there are different types of mutations that can occur on the gene, and while the mutations will result in Hurler’s syndrome, the variations can result in different severity of symptoms and different levels of enzyme production in the brain in a mixed-chimerism patient like Ethan. 

That basically means that in the short-term we look primarily at Ethan’s transplant outcomes to guess whether or not he’s getting enough enzyme in the brain.  We assume that if his engraftment is strong and his body is producing a reasonable amount of enzyme (as measured in his body) then he’s probably getting enough in his brain.  

In the long-term, we use scheduled neurcognitive development testing to assess Ethan’s development.  If his development is progressing, we assume that he’s producing sufficient enzyme, if he’s not developing or starts to regress, then he’s not producing enough. 

With all of this as background, Dr. Orchard agreed with Ethan’s Oregon transplant team that in the short-term the chimerism numbers will drive the decision about whether and when to do a second transplant.  In other words, if his chimerisms get to about 10%, we’ll do a second transplant.

We talked about where to do the second transplant if it’s needed.  UMinn is one of the three main Hurler’s centers in the country.  They’ve transplanted 113 kids and tracked outcomes for many more, they clearly have a wealth of experience to call on. Having said that, the transplant timeline can range from 2-6 months or even longer, and the prospect being that far away from family and support networks for that long is extremely daunting. 

It’s also true that UMinn has a full range of specialists from anesthesiologists to developmental and orthopedic specialists to work with patients. At the same time, we have a very good transplant hospital 20 minutes from our home.  When it comes right down to it, the transplant protocols are the same, and in the event that complications arise, the responses and interventions are the same. It’s true that the nursing staff and others at UMinn would be better attuned to working with the needs of Hurler’s kids as opposed to lukemia patients.  But overall the type and quality of care and the transplant outcomes aren’t significantly different and, in our situation and opinion, don’t merit the risks and difficulties of pursuing transplant so far from home. 

Sarah here: 
On the brain front, there is some really good news as well as a new challenge for us.  We met with several folks from the Neuro-Psych department at UMCH over the course of two days.  The first day Todd and I answered a lot of questions from one of their department about our perceptions of Ethan’s development and how he adapts to everyday situations.  Things like when did he first sit unassisted, crawl, and walk.  Also things like can he follow simple directions and how many words does he say or sign. (For those of you familiar with this field, we were completing the Vineland survey.)  During this entire time, Ethan and Caleb played in the room around us.  Caleb had his new dinosaur skeleton (a T-Rex) from the Minnesota Science Museum, so he was pretty occupied, and Ethan was Ethan—following his brother around, climbing on the chairs or our lap and babbling at us.

On Tuesday, Ethan and I walked back to the clinic and had a couple hours with two more folks—a graduate fellow and a grad student—who worked Ethan through the Mullen survey.  Lots of sorting shapes, pointing to objects to identify them and their uses, stringing beads on a shoelace, stacking blocks, pointing to pictures in books, kicking balls and going up and down stairs, and many other things to get a feel for his gross and fine motor skills, his cognitive development, and his receptive and expressive communication skills.  We took some diaper-changing breaks and a snack break, and Ethan was pretty tuckered out by the time we were done.  He pretty much fell asleep on my lap while the graduate fellow and Dr. Shapiro reviewed the results with me.

The fantastic news is that Ethan’s cognitive development is right on a par with a normal average to above-average 2 year old!  And his fine motor skills were average, which is a significant improvement from his score a year ago when he was tested for Early Intervention services.  He is somewhat delayed in his gross motor skills, which may be related to his orthopedic issues (the kyphosis and his knock knees and pronated feet.)  The real area of challenge is in his expressive communication.  Though Ethan makes himself fairly well understood by pointing and taking you to where he wants to go, that is starting to not be enough for him to express all he can understand.  Basically, his expressive abilities are falling way behind his thinking abilities.  Dr. Shapiro recommended that we immediately get him into speech and language services 2-3 times per week to help catch him up in his expressive communication, so we’re getting started setting that up.

This was so completely refreshing.  I think she is the first doctor who has said…this is what you need to do...go do it and do it now.  This is the difference there is between working with doctors who know their field and working with doctors who know Hurler’s patients in that field.  Dr. Shapiro has seen 50-80 Hurler’s patients, so she knows the effects of this specific disease in her realm of expertise and can say definitively…this is what you need to do.  What a revelation!  And a relief!

Todd again:
As you can see the neurocognitive testing that we had to fight for, turned out to be one of the most worthwhile and informative parts of the trip.  I had been wondering if we’d invested too much time and energy in fighting for that.  Receiving such positive and useful information from that testing reconfirmed for me that no issues are small or unimportant and that we need to keep fighting wherever we can for more and better access to services and information.

It was very helpful to see and work with some of the specialists at UMinn.  Through that we realized that while the transplant can be done here in Oregon, we will probably want to work with UMinn or another Hurler’s center for Ethan’s post transplant Hurler’s care.  Centers like UMinn, Cincinnati and Duke have experts a range of experts who specialize in Hurler’s issues, understand how treatment and disease progression has changed with the advent of enzyme replacement therapy, and understand and conduct the latest research and clinical trends.

For example, we’ve got one orthopedic surgeon that we we’ve worked with through Kaiser Permanente in Oregon.  At UMinn they have orthopedic specialists who work primarily with leg and mobility issues, specialists who work with arm and carpal tunnel issues and specialists who work with spine issues.  Similarly, as Sarah discussed, it was very helpful and informative to have neurocognitive specialists who can see through the hearing, vision and motor skills issues to accurately assess Ethan’s mental development. 

What that means for us, is that once Ethan is through transplant issues, we’ll likely start traveling to UMinn or another center for yearly evaluations.  The staff there will schedule a full range of examinations with all of the specialists he needs to see, and most of his surgeries would likely be done there.

For now, our health insurance benefit levels through Kaiser Permanente are so good, that we’ll stay with them until the transplant issues resolve.  Then we’ll likely switch to Blue Cross or another provider that will allow us to get treatment out of network without having to go through interminable appeals. 

It also means that we’ll likely be spending some time each year in another city getting medical treatment.  The amount of time will vary year by year depending on what surgeries he needs.  This is pretty common thing for MPS families. 

Finally, I wanted to add a note about the Ronald McDonald House where we stayed while we were there.

Before Ethan was diagnosed, I never knew what the Ronald McDonald House Charities were.  After his diagnosis, I started reading about families who stay at RMH while their kids are receiving out-patient treatment away from home.

Even though we were only in Minnesota for a few days, I wanted us to stay there so we could check it out in case we went back for transplant or future treatments.  I’m so glad we did.  I can not say enough about the facilities and services that RMH provides.  

The RMH Twin Cities house is a four building complex that can house 48 patients and their families.  The facility is set up to provide a comfortable, supportive home away from home for kids and their families who are working with life threatening illnesses.  Patient and family stays can range from a few days, as in our case, to 100 days or even a year. 

The house has comfortable rooms, 10+ fully equipped kitchens, play rooms and play grounds, game rooms, small and large living room and communal room nooks, exercise rooms and laundry rooms.  The staff and volunteers arrange all kinds of activities to help engage and support the kids and families.  At various points in the short time we were there, they set up a space for kids to have fun driving electric cars, had visits from therapy animals, had various community groups and volunteers come in and cook dinners for the residents, etc..

If you never knew what Ronald McDonald House Charities were about, please know that they provide a truly essential service for families in critical need.  So, the next time you or your kids are grabbing a burger at McD’s, be sure to drop a $20 in to the RMH collection box.

I suspect that we’ll be spending a fair amount of time at RMH in future visits.  It’s a wonderful relief knowing that such a great resource is there.

One last note, and a request for help.  Sarah and I would like to ask if there’s anyone in the area who can volunteer to take Ethan to one or two of his weekly speech therapy visits? Sarah and I are trying to save our sick and vacation leave in case we need to take significant time off to care for Ethan during a second transplant.  Sarah’s parents have been and continue to be a huge help with everything, but they have their own demands on their time and deserve some down time, too. 

If you think you might be able to pick Ethan up from daycare and drive him to and from his speech therapy visits occasionally, please let us know, it would be a huge help.