Friday, April 27, 2012

Good News & Stability

At the Como Zoo with Ethan
and our wonderful Care Partner, Sue.
Ethan and I wrapped up his last appointment yesterday morning and are flying out today. The last 9 days have been very busy, but aside from one small negative, the last nine days have been full of a lot of good news. All of his doctors said that he looks great and almost all of the exams, tests and discussions backed that up. 

In a nutshell, Ethan is in very good shape.  In the near term, that means we may be able to get back to something approaching normal.  In the long term, it suggests that while Ethan will face a number of significant challenges and surgeries while he grows up, he's got a great change of living a long time. 

Here's a rundown of what we've been up to and what we learned.

Getting the negative out of the way first. Ethan had the carpal tunnel surgery and the ABR (sedated hearing test)  this morning. The surgery went well, the ABR not so much. The audiologist noted that both tubes had come out and were embedded in was just inside the ear canal. Then she noted that both ear drums were red and infected with large buildups of fluid behind both.

The audiologist said that she ran the standard ABR, but we both doubt that those results are any good. She also ran bone conduction tests. I've asked her to email me a summary and her thoughts about whether or not the bone conduction study might be at all accurate.

Ethan's nurse coordinator, was able to get us a prescription for antibiotics (he standard pink stuff), and we've started that 10 day course. I called our Oregon ENT who placed this first set of tubes. It's not uncommon for MPS kids to need multiple sets of tubes, and I expect that he'll want to replace Ethan's. If so, I'd like to get that surgery scheduled sooner rather than later. We've got an appointment with him on May 31, though I may try to get Ethan in before that.

I had really hoped that after we got Ethan's carpal tunnel casts off, Ethan might be able to go a few months without more doctor's appointments.  Unfortunately, it look like that won't happen, or at least that hiatus will have to be postponed a little while longer.

Endocrinology - Dr. Polgreen
Ethan was seen by Dr. Linda Polgreen the lead endocrine-MPS doc. She and I talked about height & weight and hormone issues in MPS kids.

We've been talking with Ethan's primary care doctor about how best to monitor Ethan's nutrition, height and weight.  Dr. Polgreen says that she thinks that the standard BMI is a good measure for Hurler's kids because it already takes into account height and stature. She said that a lot of Hurler's kids are overweight, if not obese. She noted that Ethan's BMI is about 85% and said he is overweight. She said we should stop pushing calories, but shouldn't worry about putting him on a diet, until he's over 90%.

(I'm not sure that I agree with her on the accuracy of the BMI. According the BMI, Ethan is overweight. But within the space of 24 hours, his belly can seem quite round and fat and then he can appear so thin that one can clearly see his ribs front and back. Part of that may well be that at 16kg, any weight variance is proportionally significant. I tend to think that at least some part of it is the skeletal formation of their torsos and other structural issues. I expect that the thing to monitor with Ethan will be his consistency and height/weight development relative to himself and if we have concern then I would suggest that a nutritionist would be the first stop for information/evaluation.)

Dr. Polgreen confirmed that the total body irradiation (TBI) that Ethan got for both transplants typically further reduces final height beyond the typical short stature that comes with Hurlers. She also noted significant issues with pituitary and thyroid function in the years following TBI conditioning regimes. She confirmed that Ethan is at additional risk because he had TBI twice. She suggested annual hormone level screening and will include a list of recommended tests in her note.

Turtle boy at the Minnesota Children's Museum
Pulmonary - Dr. Riggleman
The standard guidelines for Hurler's include annual forced air tests to check for lung volume and elasticity and sleep studies to check for sleep apnea.  Dr. Riggleman said that there is no utility to the forced air test until kids are 7 or 8 because, currently, there isn't a standard for interpreting results in younger kids.

On the sleep study, Dr. Riggleman said that because Ethan's apnea last year was < 5 seconds he didn't see any need to complete a sleep study unless and until Ethan becomes symptomatic.

On examination, Dr. Riggleman said, that there didn't appear to be any evidence that the pulmonary granuloma are a concern. However, he would like to review the November and January Oregon CT scans because no one has reviewed the Minnesota scans and the Oregon scans side by side.

Neuropsychology - Kelly King PhD
This has typically been a very frustrating appointment for Ethan and for us.  Neuropsych appointments are basically a whole bunch of testing to check his development.  Ethan's done this testing about 7 or 8 times with various providers.  Almost every time, Ethan has only been focused and cooperative for more than 10 or 15 minutes. This time, Ethan gave them a good 45 minutes of attentive testing. That is by far the best he's done.  I was super proud of him!  

While still behind his peers, Ethan showed a lot of progress, testing 9 - 14 months higher in various areas. Of course, his biggest problem area continues to be speech.

Orthopedics (Hip, legs, knees and ankles) - Dr. Kevin Walker
Hips: x-rays show that Ethan does have shallow hip sockets characteristic of Hurlers, but not as shallow as some. The x-rays also reveal that there is additional material covering the hip ball, that material may be cartilage or it may be storage material. Ethan's hips are in good enough shape that they're not an immediate concern.

Eventually, Ethan will likely need surgery to help correct his knock-kneedism. In this surgery, the docs place plates on the tops and bottoms of Ethan's femurs and as he grows, the plates help his bones push more vertically so the growth is actually the agent that helps straiten him out.  Because the plates use the kid's growth, they typically don't do this surgery before the kids are five years old.  However, the surgery typically isn't completed before children are at least five years old.

Dr. Walker think thinks that correcting the knees will also help straighten Ethan's ankles.

Dermatology - Dr. Hook
Dr. Hook confirmed that Ethan's eczema is often seen in MPS patients and is often seen in post-BMT patients.

We've been using a topical steroid oil to help control Ethan's eczema. It's the only thing that really keeps it under control.  But I wanted to check in with her to see whether it's safe to use it over a longer term. Dr. Hook. didn't have significant concern about long term use of this topical steroid. On a flare up, she suggested up two two weeks of twice a day use, then going to once a day or once ever other day in conjunction with aquapor or another over the counter skin creme.

She suggested a stronger topical steroid, triamcinolone, for Ethan's hands, because they tend to be a particular problem. And she suggested a lighter steroid for Ethan's face. It will be nice to have some more options and hopefully we won't be behind the curve next winter. 

Neurology - Dr. Karachunski
Dr. Karachunski reviewed Ethan's MRIs. The brain MRI and said that it showed no evidence of hydrocephalus, or other volumetric increase due to fluid or storage material buildup. The spine MRI showed no significant narrowing or pinching of the spinal fluid in the cervical spine, nor any skeletal instability.
Examination showed no evidence of nerve function impairment.

Orthopedics (Spine) - Dr. Schwender
Dr. Schwender evaluated Ethan's kyphosis as 52 degrees and said it shows no evidence of restricting the spinal fluid or pinching the nerve bundle.

He said that because the surgery can return the spine to 0 degrees regardless of how severe the kyphosis may be and because the surgery stops growth along those vertibrae, they don't typical think about intervening until the kyphosis exceeds 70 degrees or if it impacts the spinal fluid or nerves.

Dr. Schwender said that the kyphposis doesn't appear to be an immediate concern and should be monitored yearly unless it looks to be getting noticeably worse.

Transplant - Dr. Lund
The blood draw for Ethan's chimerisms were drawn in Oregon in early April and shipped to Minnesota.It was more good news here. 

The CD15 marker, which suggests the blood enzyme level was still 100% donor. The CD3 marker which tracks T cell recovery and suggests the stability of the transplant was 93% up from 82% in October. Dr. Lund confirmed that the CD3 marker may continue to increase for another 6 months or so.

Dr. Lund said that the likelihood that the transplant would fail or decline to a significant mixed chimerism situation (requiring restarting enzyme replacement) was 0 - 1 %.

We are still waiting on other blood work results including a blood enzyme level and immune system study.
Dr. Lund said that Ethan's liver has reduced. He said that Ethan looks really good, to the point where he wondered if Ethan had a less extreme phenotype of Hurlers.  I'm not sure how he figures that since testing at the time of diagnosis showed that Ethan wasn't producing any enzyme at all.  0 = 0, so I'm not sure how Ethan's hurler's could be any less severe than anyone else's. But that's what he said. 

Cardiology - Dr. Braunlin
Ethan's echocardiogram and EKG confirmed mild thickening in Ethan's mitral valve, but the heart function was completely normal. Dr. Braunlin said that Ethan's thickening is minor enough that she hopes he may grow into it.

In recovery after surgery.
Carpal Tunnel Surgery - Dr. Van Heest
Surgery went fine. Dr. Van Heest noted that a one centimeter area of his medial nerve was significantly pinched. She also scraped off GAG storage material from the nerves and nerve tunnel.

Ethan is in wrist casts for the next three weeks and then will be in splints for another month.  Interestingly, Dr. Van Heest didn't see any problem with Ethan resuming karate even while he's in the casts. Hmm, I think that Sarah and I are going to have to think about that one a bit. 

Ethan's been a trooper the whole week. In fact, as I was writing this, Ethan decided that he was ready to go for a run around the hotel. We only did one lap as opposed to his normal 5, but even so, he's a very tough little guy. 

Job Search
It's been 33 weeks since Ethan was diagnosed. Now that he's finally stable, I'm looking forward to starting my job search and hopefully going back to work before too long. Honestly  with all of the time that Ethan has spent in isolation, the best thing we can do for him is to do is to go to a nice small daycare and spend more time with other kids.

Time to wrap this up and finish packing up so we can head off to the airport.


Wednesday, April 18, 2012

Returning to Minnesota: Ethan's One-Year Evaluation

Last Friday, April 13 was the one-year anniversary of Ethan's bone marrow transplant.  Yaay!!  Go Ethan!

Unlike many families, we didn't celebrate the event as a re-birthday; mostly, I think, because it would be difficult to explain to Caleb why his brother gets to celebrate two birthdays.

But it is a fantastic milestone, nonetheless.  Just the week before, Ethan and I had gone to our regular check-in with Dr. Nemecek, Ethan's local transplant doc.   At the end of a very easy, routine appointment, Dr. Nemecek looked at us and said, "Okay, I'm done with you.  You don't need to come in anymore."  After 33 weeks of coming in for enzyme infusions and for follow-up on transplant #1 and then transplant #2, it's become a regular part of our lives.  

While I was still trying to process that, I asked what happens if Ethan spikes a fever, where do we go?  She said, "Ethan's off immune suppressants and he doesn't have a central line anymore. If he gets a fever go to your primary care doctor.  You'll be doing your annual transplant follow-up in Minnesota.  So, there's nothing more you need us to do for you here."

The hematology/oncology clinic has been such a large part of our journey for the last 33 months.  It really was a shock to process.  When I called Sarah to tell her, she even got a little teary from the thought of loosing that safety net and from the idea that Ethan is just that stable now.

Speaking of our annual evaluation in Minnesota, Ethan and I are getting on a plane in just about four hours, for a fun-filled week and a half of poking, prodding, long discussions, and a surgery.

Here's a quick overview of our trip.

Thursday: Endocrinology - requested consult to discuss growth/height/weight patterns in post-transplant hurler's patients and at about what age might we need to consider growth hormone if indicated.

Friday: Pulmonary - discussion of pulmonology elasticity and monitoring in Hurler's kids, post transplant.

Saturday and Sunday - I'm thinking zoo and the science center!

Monday: Neuropsychology: developmental testing and consultation
               Orthopedic Consult: hips, legs and feet

Tuesday:  Dermatology consult to discuss eczema management and other skin issues in hurler's kids post-transplant
                Neurology: to review recent, routine MRI

Wednesday: Orthopedics: spine exam and consultation
                    Labs and transplant clinic exam and consultation
                    Routine echocardiogram and cardiology exam and consult

Thursday:    Bi-lateral carpal tunnel surgery
                   ABR hearing test

Friday:        Fly back with Ethan in hand and wrist splints :-(

Most of these appointments are routine annual evaluations recommended for Hurler's patients.  The endocrinology appointment isn't regularly scheduled, but I want to know how best to track his weight and height and what the criteria are for needing growth hormones.  I would very much prefer never to have to use them, but I want to understand when they are used to help head off other, potentially more serious problems.   I know that it's very early to be asking this type of question, but I don't know if we're going to be going back to Minnesota every year when Ethan is older, and I just want to have an idea of what that timeline and decision tree looks like.

The dermatology appointment isn't regularly recommended either.  But my sense is that a lot of MPS kids have eczema and other skin issues, and I think it's true that the transplant causes additional skin issues. Sarah and I want to manage this far, far better next year.  At the same time, we don't want to overuse topical steroids, so we want to know what other options we've got.

In a nutshell, by this time next year, Sarah and I expect that we will be working with some specialists here in the NW, instead of getting all of Ethan's specialty care through Minnesota.  But before we make that change, I want to pick some brains and get some experienced opinions

A quick wrap up of other news

The four of us took a 4 day trip to Seattle during Caleb's spring break.  It is so fantastic to see the boys exploring new activities and areas.  Unfortunately, we didn't escape the Pacific NW weather.  It was cold and rainy in Portland and Seattle that week. Some pictures are online here.

Overall, Ethan is doing incredibly well.  He's making good progress in his inter-personal skills and general situational awareness.  I think that's very largely due to the four hours a week of early-intervention preschool.  Ethan's spent so much time in hospitals and in isolation.  He loves being around other kids and learning from them.

Caleb is doing exceptionally well, I am very, very proud of him.  He started off the school year very behind in reading and he's worked hard--although grudgingly--at it all year.  His reading has come along very well and it is so fantastic to hear him reading.  I hope that he'll be caught up with his peers by the start of the next school year.

Last weekend, Caleb and I took our first Tae Kwon Do tests and obtained our white belts. I think that basically means that we're qualified to be students of the school.  It is very interesting to watch Caleb in martial arts class.  He is showing a lot of focus and it is clear that he is working hard to do it very well.  But he approaches it in such a low key way, there are no outward signs about how enthusiastic he may or may not be.   He's trying hard and he says he's having a good time.  I am thrilled that he's found an activity outside of the house that he enjoys, and I'm trying not to push him farther than he's ready to go.

It may be five or six months before Ethan is ready to test for his white belt.  He has made some progress in being less disruptive in class.  He clearly enjoys the kicking and punching drills where he gets to run around and kick and hit things.  But, so far, he's shown no patience for learning the techniques--even when presented at a three-year-old level.   If he were any other kid, I'd likely pull him out of class and we'd wait another year or so.  But I think the exercise and strengthening he gets from the activity are very important to him, and will be even more important down the road when he's dealing with more of the long-term effects of the disease.  I really want this to work for him.  I'm fairly pessimistic at this point, but we'll give it 2-3 more months and see where we are.

That's it for now.  I've got to get packing. Thanks for checking in on us.