Good Progress, No Progress, and Slow Progress (All of the Above)

I know, I know.  I promised an update "next week", and that was five weeks ago.  In my defense I didn't get the final report from Minnesota until the third week of November, and then we had Thanksgiving, and then we had Caleb's birthday... Blah, blah, blah, yadda, yadda, yadda.

Anywho....  The big news around here has been

Caleb's Birthday!
And, yes, he did get all the candles out!
Mr. Big Man on Campus turned 7 years old on November 30th!  Yaay!!!

It was a small celebration, the four of us, together with Grandma Pat and Grandpa Bob, and our wonderful neighbors Steve and Susan.  Unfortunately, this summer Caleb decided that he didn't want to go to a couple of his friends' birthday parties and help them celebrate.  Since he hadn't gone to their parties, we decided not to have a party with friends this time.  Hopefully we can do that next year.

Regardless, Caleb seemed to have a great time.  Semi-trucks seem to have replaced trains as the big thing right now. Caleb was thrilled to get a couple of 2' long toy Kenworths.  He said that they will nicely complement his friend Ryan's Peterbilt.

The school calendar here has been sliced up a fair bit due to recession driven budget cutting.  Caleb's had more four day school weeks than he has five day school weeks.  Just yesterday, Sarah and I were saying that it's a good thing I'm home because it would be really tough to juggle all of Caleb's days off if we were both working.

When you look at this picture, don't
you feel like he's just humoring you?
Caleb is doing reasonably well in school.  He's enjoying science and math quite a bit.  Unfortunately, he's behind in reading, (and some frustration about that has made school less of a positive experience than we would like).   What concerns me a bit more about Caleb though is the fact that he doesn't seem to want to pursue the knowledge.  Somehow, reading just isn't important enough to him that he wants to work at it.

I am sure that eventually Caleb will learn to read pretty well and that he will catch up with his peers.  But with 30 other kids in his first grade class, and larger classes elsewhere in his school, Caleb is going to have to work hard to get an education.  His teachers won't just be able to hand it to him. He's going to have to go get it.  I'm not sure how to instill that in him.

(I'm sure that my mother is reading this, thinking "now you know what it was like for me."  Oh god, I hope Caleb does better in school than I did!)

Anyway, Caleb is off school again today (Friday).  Which means I've got both boys today. Sarah's at a choir retreat Saturday and Sunday, so it'll be the three of us all weekend.  I reckon that by the time Sarah gets home Sunday evening, I'll have locked myself in the closet and will be sitting on the floor, in the dark, rocking back and babbling incoherently. Oh well, it won't be the first time that's happened.

Ethan Update
Ethan with our cat Smokey.
Let's see, we got the following reports, results and summaries from the 6 month eval in Minnesota: neuropsych, chimerisms, blood enzyme levels, CT scan, neurology, ACTH stim test.  Then Ethan had a follow up CT scan here in the middle of November.

Where to start?  Where to start?

I'd already talked a little bit about Ethan's engraftment studies in the last post.  But those are the most important part of all of this, so to recap... The engraftment study follows two genetic markers.  The % donor for both markers had gone up since the last check in August.  As of mid-October, Ethan was 100% donor on the marker that signifies production of the enzyme he's missing, and he was 82% donor (up from 30%) on the marker that controls his T-cell production. (T-cells are a type of white blood cells.  As I understand it, there is some correlation between higher donor T-cell % and overall stability of the transplant/graft.  But I think that's a gross simplification and overstatement, so don't quote me on that.)

In-line with his strong engraftment numbers, his blood enzyme tests showed "normal levels" of the missing alpha-l-iduronidase in his blood.  (Unfortunately, "normal levels"  of the enzyme may turn out to be insufficient for these kids.  There's some evidence that post-transplant normal enzyme levels for Hurler's patients significantly slows further damage to their bodies, but that over the course of years the existing damage and perhaps residual storage material or a susceptibility to the accumulation of new material means that further damage can occur.  There is some talk among the researchers about whether or not administering regular IV synthetic enzyme doses to supplement what the body produces post transplant may be needed for these kids. )

Ignoring all the overly technical stuff, and the long-term what-ifs, Ethan's transplant is doing great, and we're really, really happy.

After the engraftment study, this was the appointment that I was most interested in.  After a two hour evaluation and conversation, I'm not sure that I came away with much more information than I had when we went in.

The short answer is that Ethan's development has more or less plateaued since he was evaluated for the pre-transplant workup in January. On the one hand, it's surprising because people say that Hurler's kids' pace of learning improves post transplant.  But, Sarah and I hadn't noticed much in the way of new skills or vocabulary development, so the results were about what we suspected.

I do think that the testing underestimates Ethan's intelligence, and perhaps how much he may be developing intellectually. The fact that Ethan doesn't talk yet, combined with some difficulty with his fine motor skills and magnified by the fact that he does not like and rarely cooperates with the testing, makes me think that the results may lag behind what his actual intellectual ability.

Even so, it is disappointing news on a couple of different levels.  Objectively, it's tough because the skills that he should be learning now are the ones that will help him learn more effectively when he goes to school.  So each month that he fails to progress mean that it will be harder for him to make progress later on.

Personally, the fact that Ethan hasn't made any progress in speaking is particularly difficult for me.  I've long said that I can work through all of the medical hoops and b.s. that we have to go through, but that at some point I want to have a conversation with my kid.  I want to talk with him and find out what he wants and what he thinks.  I can see the wheels turning in there.  I know he'd be great to talk to. But we never seem to get closer to having that chat.  It is certainly frustrating for Ethan as well, because he's only able to express the most basic needs or ideas.  While he is extremely expressive and his vocabulary and signs can cover his basic needs, he just doesn't have anything beyond that.

In the end, the lack of progress just highlights for me how little control we have over this disease and how much MPS completely sucks.

ACTH Stim Test
The stim test check's Ethan's adrenal insufficiency.

Ethan was on steroids for so long last fall that his adrenal gland stopped producing as sufficient steroid hormones of his own. That leaves him at risk, particularly when his body is stressed, of not being about to stimulate his body's response, which could lead to all kinds of serious and unfortunate stuff.

Over time, Ethan's adrenal gland has rebounded.  Ethan was able to come off of his daily dose of hydrocortisone a few months ago. The October test, showed his adrenal function was now normal, so that we no longer need to give him stress doses of hydrocortisone to help him through fevers or surgical procedures.

I never know quite what to make about neurology appointments at UMinn.  Theoretically, the neurologist is checking whether or not waste product (GAG) buildup in Ethan's central nervous system is impairing his function.

That's all well and good, right?

But Ethan's never shown signs of impairment, and the doctor neurologist who we work with at UMinn, frankly, seems to be phoning it in.  Each time, this guy sees Ethan, he comes in, hits him on his knees with a reflex hammer, makes him walk five feet and then we're done.   He doesn't offer much information about Ethan's relative condition, or likelihood that Ethan may develop some difficulty going forward.  He basically just hits him with his hammer and then he's outta there.

We were also referred to this guy last spring when we wanted to explore whether or not Ethan's sleep issues might be related to neurological changes in the brain of Hurler's patients.  When we went in to talk to this guy, he pulled up the PubMed database of medical research articles and showed us how to look there. I do think that anytime your doctor shows you how to research stuff on your own, that's an indication that the doctor has no idea and doesn't even care enough to do informed research on your behalf.

With that as background, you'll understand when I say that I didn't have high expectations for this exam.  I expected the doc to come in and hit him with his hammer and then we'd be done.  But when the doctor came in, he brought two medical students in with him to show them the "rare and difficult Hurler's case."  Normally, I welcome that because I'm all for teaching doctor's how to recognize and catch Hurler's early.

But in this case, I think the Neurology doc started to show off.  He went beyond normal diagnostic signs and then started putting Ethan through an abbreviated and pointless bit of neurodevelopmental questions. Well, I figured, if the doc is going to get into neurodevelopmental stuff, I'm going to pick his brain on neurodevelopmental stuff.  I figured it was pretty much outside of his area of knowledge, but if he wanted to pretend, then we'll see if he can actually tell me anything useful.   I grilled him about issues, therapeutic responses and outcomes for the next 15 minutes.  I didn't get anything out of him, which isn't surprising, because he didn't have any knowledge to give me.  Eventually, he slid his backpack on to his shoulders and edged out the door.

The moral of this story?  A lot of Hurler's families know a lot about the disease and have high expectations about the knowledge, understanding and experience that UMinn doctors should bring to the table.  We don't travel to Minnesota for the cross country skiing.  Don't try to examine my kid outside of your area of expertise if you don't know what you're talking about.  We've got better things to do with our time. I think the next time we need a neurological consult we'll go to someone else in the department.

CT Scan
Ethan had a sedated CT in Minnesota that showed two NEW granuloma in his lungs. Once again, Ethan's primary doc said he thought the images were just the result of lack of inflation in the lungs due to sedation, but that they had to follow it to ensure that the granuloma weren't indicative of an active infection.  All of which is a long way of saying that we had to have yet another sedated CT scan when we came back to Oregon to double check.  Fortunately, that scan came up negative.  They didn't see any granuloma in that location.  Ethan is still on a somewhat stronger anti-fungal medicine.

If we are lucky, the doc will take this as final evidence that the various granuloma were not signs of infection and we won't need to run another one down the road.  But I doubt it.  I expect Ethan will have at least one, and probably two, more sedated CTs before everything's said and done.

Blood Pressure
Ethan's had high blood pressure at least since he went on steroids last fall.   His current pressures are around 113/58, which puts him in the 99th percentile for his age, weight and height. Even so, his transplant doc here in Oregon, recently suggested that we reduce his blood pressure med by 1/3.  We checked in with Ethan's primary care pediatrician, who then consulted with a nephrologist.  They both suggested that we actually increase the dose by 1/3.

The issue here seems to be that the transplant doc is looking at his pressure within the range of normal for the patient population that she sees.  Meanwhile his primary care pediatrician and the nephrologist are looking at his pressure relative to the general population of kids.

What we've been told and the perspective we tend to agree with is that there's no point for his blood pressure to be that high if it can be better controlled by medication. At the same time, if we treat his high BP aggressively, then we need to be careful that it doesn't go too low as he continues to stabilize post-transplant.

Pediatric blood pressure monitors run more than $500.  Sarah and I have put appealed to our insurance company a couple of times to see if we could get approval to get a pediatric blood pressure monitor.  Unfortunately, it turns out that those are never approved.  So, even though Ethan only needs to go into the transplant clinic every other week right now, we need to go into our PCP's office on the off-weeks just to check his BP.   The only good thing about this is that it means I get to ride my bike some more as Ethan and I go to and from appointments. Sure it's winter, but you've got to get the miles where you can.  (I know, I'm kinda sick.)

I'm happy to report that we seem to be making some progress on Ethan's sleep issues.

We've focused a lot on changing the environmental issues.  We've taken the top bunk from Caleb's bunk beds and moved that into Ethan's room.  The side rails of the bunk bed keep Ethan from climbing out of it.  We've also added a mattress warmer so that he doesn't get cold and wake up if he kicks the covers off overnight.

Ethan's gotten really good at climbing into bed after we read stories.  Sarah or I climb in with him, but we can lay there quietly and read or doze off, and Ethan will put himself to sleep pretty quickly.

Most nights, Ethan will still wake up at least once in the middle of the night. With the bunk bed, we're able to climb in to be present for him and to keep him from getting up and wandering around the house.  He's still learning that we're not going to pick him up and sit with him to get him back to sleep in the middle of the night, and that he needs to put himself back to sleep.  He's at the point where he'll throw a tantrum in the hope that we'll cave. But the tantrums are usually only 45 minutes or an hour, down from the 2+ hour tantrums that we sometimes had when we were trying to put him back to sleep in our laps.

I'm pretty happy with the progress he's made, but we've still got months of work ahead of us.  We are still giving him benadryl to help him sleep.  But once we improve the behavioral parts of this, we'll start to scale that back and eventually eliminate it.

Bundled up for a cold and dark morning
In Other News
Outside of all of that, we're doing really well.  Sarah has kept up with her bike commuting through an unusually dry and cold fall. After being off of the bike for the later half of October and early November, I'm happy that Ethan and I are getting back on the bike more of late. 

We had a quiet and wonderful Thanksgiving at Sarah's parent's place. Caleb had the whole week off of school (what else is new?) and Sarah took some extra time off.  We had a nice stay-cation and some good family time to cap off the holiday.

My mother and step-father are arriving in mid-December and will be with us through Christmas.  So, we're looking forward to that.

And Sarah's choir, the fantastic Aurora Chorus, is getting ready for their December concerts.  They should be amazing, as usual. (Tickets are still available ;-))
Grandma Pat at Thanksgiving


Anonymous said…
Todd, consider enrolling Ethan in an autism-ABA program not because he is autistic but this is a program that has been shown to help with speking and other skuls in MPS kids especially bc MPS I kids murrir some of the autistic traits so closely. A couple programs are WEAP and Integrated Dev. services though here in WI there are waivers that pick up what private insur (now mandated to cover autism here) does not cover. Typically the programs are very intense at aroun 20hrs. You might alos want to look into Birth-to-3 programs if you have it in Or.

As for ERT I obviouslt dont know the researchers thinking well but it does not get in to the bones and does not aid the heart or endocrine or brain/CNS issues so what do they hope to gain from it in Hurlrs kids long term? For me it has really only helped GI system, lungs (but not cardio-pulmonary) and slowed down cornea issues. Just some thoughts.

As for Neurology even this drs nurses confessed to me when the former metabolic neurologist left that they did not think he really had expertise in MPS I/MPS and if pts could find a better neurologfist/neurosurgeon elsewhere they highly recommended pts do so. I cant remember what that drs specialty was but it was not by any means rare diseases or metabolic issues in general. His exam on E perfectly mirrors the one and only time I saw him and since then have went local for this care - yikes when my neurosurgeon whose been out of her fellowship for just over a year knows more about MPS I then this dr I knew it was time to not turn back! Crazy huh how some are so good there nad some just are not!.. The old neurologist is doing translational lysosomal work at shire - tempermental but so educated when it came to these issues!

As for BP (sory to do this point by point) as his Cardiologist if they can give you a small arm BP cuff these can even be bought at walgreens, etc for about $40 - I got mine from my Cardiologist at 0 cost to me or my insurance. Just a thought.

I hope this isnt to annoying - hopefully things will cont to improve!

Anonymous said…
Wonderful update, as always. (Funny....I didn't read this until after I'd made the "Man on Campus" comment on your other photo, and I can't recall if I've even even typed that phrase before, ever...synchronicity.) Anyway, looks like Caleb had a great B-Day.

I hear your frustration with Ethan's speech issues, and I can understand why this is the hardest part for you. Have you received any positive info. from the parents of other MPS patients regarding this?

Sounds like you need a new neurologist. I'll leave it at that for that issue.

Thanks again for the updates...I always enjoy reading them. And I'm so glad to hear about the engraftment results....huge relief.

Love to you all,