T+319: A LONG overdue update

The Larger MPS World
It's been a very tough month in the MPS community.  Just in the last month we've lost 8 kids that Sarah and I know about.  We want to take a moment to mark their passing and send our heartfelt condolences to their families.   Their lives were much too difficult and too short, and yet they gave and received a lot of light and love.

1/22   Hannah (Name Withheld), MPS IIIA, 15 years old
1/25   Olivia Olivier, MPS I,  2 years old
1/29   Lee Matthews, MPS II, 10 years old
1/31   John Cowin, MPS II, 17 years old
2/8     Mali Larrow, MPS I, 1 year old
2/16   Gabe Creese, MPS II, 7 years old
2/19   Georgia Lewis, MPS IIIA, 16 years old
2/22   Danielle Estrada, MPS III, 13 years old

While it's difficult to know the size of the MPS population worldwide, there is a network of 300 or so families in the US and Europe who keep in touch and share experiences, support, resources, and information about the latest research.  Every time MPS steals another kid, all of us feel the pain and the heartbreak.

Honestly, I didn't tell you about those kids in order to guilt you into helping, but it just so happens that there is a very important and timely thing that you can do now to help those still fighting.  There is a bill in Congress called ULTRA - Unlocking Lifesaving Treatments for Rare-Diseases Act.   The bill seeks to help accelerate the approval of critical lifesaving treatments for rare diseases like MPS. 

Please read this letter from the U.S. National MPS Society and contact your congressional representative to ask them to sponsor ULTRA.

The MPS diseases are incurable and they are fatal.  Please help us find a cure.

And now, to Ethan.....

The Medical Update
Ethan is doing very well.  His health and energy are continuing to improve at a noticeable pace. Even people who see him regularly notice that his appearance, mood and energy seem to be better every time they see him. He's more lively, more engaged, more attentive, more happy each and every day.

His strength and endurance improve each week. When we got home from Minnesota last summer, I would take his stroller with us anywhere we went because I knew that he would want to ride or be carried most of the way. By late October, early November, I would take his stroller with us when I knew that we had to walk more than 5 minutes. Now, the only time I bring his stroller is if we're going to be walking next to traffic and I want to make sure he stays safe. Even then, I think Ethan gets insulted when I bring his stroller out, because he certainly doesn't feel the need for it!

Medically, he's doing very well.  We're down to once a month check-ins at the transplant clinic here.  I won't say they're a formality or that they're cursory visits.  But they are quick check-ins for blood work, a look-see to make sure that nothing surprising has come up in the last month, and then we're out the door until next month.

Ethan's blood pressure has been declining steadily since he came off of the immune suppressant in early January. We've been tapering the dose on his high blood pressure medicine and going into his primary care doctor's office regularly for BP checks to see if the taper is on track. After two years with high-blood pressure, he finally came off of that med last week.  Now that he's off, his pressure is still high, but we're keeping an eye on it and expect it to come down a bit more.

With one more med checked off the list, Ethan is off of all of his transplant related medications except one!  One!

Slowly.  Very slowly.  We've gone from this:

To this:

That little brown one up there is a daily multi-vitamin, and the only reason that it's a prescription medication is that it's got fluoride in it.  That whitish one above it is an anti-viral prophylactic  that he only takes on Saturday and Sunday, and should come off at the one-year mark.

Lest I forget, the last post talked about Ethan's dental surgery that was scheduled for mid-January. When the dentist was able to get him sedated and get some dental x-rays, it turned out that things were better than she'd thought.  Ethan had a number of cavities, but didn't require any crowns or any other dental procedures. We were relieved that it was better than expected.

Medically, the main thing that we're dealing with is an ongoing fight with Ethan's eczema.  We've been coating him twice a day with a skin moisturizer, Aquaphor, which is basically a specialized variation of Vaseline.  We've got it mostly under control on his body, but there are a few chronic trouble spots-his hands, his neck, his forehead and under his eyes-where we can't apply enough or keep it on long enough to beat it back. I have not found any research connecting eczema with MPS, but based on the number of families who have to deal with it, I strongly suspect there's a link. At some point between now and next winter I want to find a way to deal with it better so that we're not always behind the curve.

On the Rehab Front

Outside of the medical stuff, Ethan has been having all kinds of new fun.

Once Ethan came off of the immune suppressants in early January, his doctor cleared him to restart preschool.  In mid-January, Ethan started at the early intervention preschool a few miles from here.  Unfortunately, the school is only 4 hours a week (2 days, 2 hours per), but Ethan is having a great time.

During his first visit to preschool, Ethan noticed that all of the other kids have backpacks.  When it was time to leave Ethan made sure that I knew that he wanted a backpack, too! So we pulled a kid's backpack out for him.  Now, whenever it's time to go to school, the first thing he does is go over and get his backpack.

At preschool, the kids show up and have about 30-45 minutes of play time and can use various activity centers that are designed to support their general special education needs.  Then they have some teacher led circle time, after which they have a snack and then head off to the playground or the gym to run around and play for another 20-30 minutes.

Last fall, we noted that Ethan had a very hard time cooperating with tasks that were chosen by grownups or teachers and a short attention span when he did cooperate.  We worked through that pretty successfully by giving Ethan a few choices to select from and then working with him on rehab tasks within the task he selected.  Now that he's in preschool, the progress we made with him through the fall is paying off.  In addition, Ethan very much wants to model his behavior on what the other kids are doing, and that helps him settle in to teacher led activities and participate.  He still has some problems with his attention span, and he'll wander off if it's an activity that he doesn't like.  But he's not throwing tantrums like he was last fall, and overall he's not particularly disruptive.

I will say that I do get nervous with him at preschool.  It will be a few years before his immune system starts to approach normal.  Until then, he'll get sick more easily and it will take him longer to fight them off.   The first day we visited, the kids got together in circle time, and the teacher was singing a song about all of the kids in class.  At one point, the teacher asked, "Who should we do next?" The little boy next to Ethan, turned to him and said, "We should do Ethan next."  And then proceeded to sneeze right in Ethan's face!

Yes, I did think about going over and giving the little boy a nasty look and taking Ethan home right away.  But only briefly. Ethan's going to get sneezed on, and he's going to get colds.  In fact, he's just getting over his first post-transplant cold.  He picked it up a couple of weeks ago.  It wasn't horrible, but there were a couple of days where he had 100/101 degree fevers off and on.  (Can I just say how nice it was, now that his central line is out, not to have to run him to the ER for a 101 degree fever (because there's no concern over the line getting infected).)

By the end of the two hours, Ethan is one tired puppy. I also expect that he may be a little sore from running around that much. He's pretty severely knock-kneed and for all the running that he does, I still expect that it's harder on him than it is for most kids.

Because Ethan is in the EI preschool now, we've dropped him out of occupational therapy.  He's getting some good OT practice in the preschool and we only get 25 insurance covered therapy sessions total each year.  I'd like to save what we have left for speech therapy, because he has a greater need there.  Even without the OT sessions, we'll run out of covered sessions and will have to send an appeal to the insurance company for additional coverage around mid-year.

We have come to some disappointing realizations about Ethan's speech development.  Namely, that the sign language we've been trying with him is not progressing well and that his speech progress while noticeable is also very slow.

On the sign language front, we've been working with him on and off for two years.  He's picked up a couple of new signs in the last six months, but he's still only got 10-15 signs that he can reliably reproduce. Frankly, it's probably more our fault than it is his.  If we were really going to do it effectively, I think Sarah and I would both need to take sign language classes.  As it is, we have problems developing our own ASL vocabulary and then consistently using it with him.

In late January, I asked the school system special education department to conduct an adaptive communication technology evaluation with Ethan so that we can get him a picture based speech device that will be his helper voice.

We will absolutely keep working with him to help him learn to speak, and his speech therapist is making real progress with him in helping him start to make new sounds.  But the reality is that even if he started talking with a 3 year old vocabulary tomorrow, he'll have significant problems with enunciation and clarity for a number of years.  So even if he did start talking tomorrow, it would be quite a while before he was good enough to be understood outside of his family and people who work with him regularly.

And the difficult truth is that his vocabulary is not going to appear overnight. Getting him to talk and talk understandably is going to take years of work.

Ethan's therapist has been working with a simple device called a GoTalk.  In just a few sessions, Ethan started using it effectively to tell us what he wanted to do.  He was even able to put together two different pictures to let us know that he wanted to go to a particular place and do a specific activity there.

I have to tell you that after waiting so long to hear Ethan tell us what he was thinking, it is very exciting to see him adapt to this so quickly.  For me, Ethan's speech issues are one of the most maddening things about Ethan's condition.  I've always thought that his cognitive understanding was pretty good, but that he had so many vocal and orthopedic issues that got in the way of his expressive ability or made it difficult for him to demonstrate his understanding in testing. Sure, I would prefer it if he were using his own voice.  But I want to have a conversation with my kid.  I don't care if it's his voice as long as it's his thoughts.

Ethan's therapist thinks he might end up with a device called a DynaVox Maestro.  But it will be at least another month before the school system completes their evaluation, and then another month or so before whatever device gets here, and then some weeks while we all learn how to use it.

In the meantime, we've taken one of the boys' iPads and added an assistive speech app called Proloquo, taken everything else off, and turned that into a speech device for Ethan.  We started using it with Ethan last Sunday.  Over the last week, he's pretty much used it just to tell us what he wants to eat.  But even with that limited usage, he's done very well.  Clearly, he's mastered the mechanics of it, so I want to start encouraging him to use some of the other categories and vocabulary items.
Planning for the One-Year Evals
A couple of weeks ago, we started talking with the team in Minnesota, putting together the list of appointments Ethan needs for his one-year evaluation.  It looks like the trip will be about a week and a half at the end of April.   In addition to transplant evaluations and bi-lateral carpal tunnel surgery, Ethan will be getting a range of MRIs, X-rays, an echocardiogram, EKG, and sedated hearing test.  He'll be having consultations with neurology, neuropsychology, pulmonology, cardiology, endocrinology, and ophthamology.

Most importantly, perhaps, Ethan will be checking in with Dr. Kevin Walker, the hips and legs orthopedic surgeon, and will be seeing Dr. Schwender, the spine doc, for the first time.  We want to check in to see if his hips and knees have gotten any worse, and we want to have Dr. Schwender do a thorough evaluation of Ethan's spine.  We want to get a good understanding of his orthopedic issues from people who work with the disease the most. 

Once we hear their baseline opinion, we want to schedule a trip to Seattle later this spring to talk with the small MPS team they've assembled at Seattle Children's.  If what we hear in Seattle jibes with what we hear in Minneapolis and the docs there seem to know their stuff, we may well try to move Ethan's future ortho surgeries to Seattle.  The orthopedic surgeries have longer recover times and it's not uncommon for post-operative complications to develop.  We would really prefer to do those surgeries closer to home so that we don't get stuck in Minneapolis or have to fly with Ethan while he's in a cast or casts or after he develops a complication.

If the trip to Minnesota goes off without any major surprises, then our plan is that I will start looking for a job when Ethan and I get back.  When I quit my job last January, I had always thought that I'd be home with him for a year or so until Ethan's condition stabilized.  And quite frankly, in my opinion, the best thing that I can do for Ethan now is to get him into a small daycare where he can keep learning from teachers and other kids in a more varied and structured environment.

Over the last few weeks, Caleb and I have been having fun, too,  He and I recently played laser tag (the first time for both of us).    We both had a blast, so much so that we went back the following weekend and did it again with some of his friends.

With the help and guidance of some friends, Caleb and I also went up to Mt. Hood recently to go sledding.   We had a great time!

It's really been great watching Caleb and Ethan's relationship grow even closer.  Caleb plays with Ethan the same way any big brother plays with his little brother, which means he gets away with as much as he can before he gets called on it. But Ethan loves to play with Caleb.  There's been a lot of laughter, fewer fights than you'd expect, and no blood drawn.  So it's all good.

A Final Note of Remembrance

We would also like to mark the one year anniversary of the passing of Sanjay Baca. Sanjay was a gregarious ten year old boy we met at the Ronald McDonald.  He passed away a few weeks later after a receiving a bone marrow transplant for Thalassemia Major.  Our thoughts and prayers go to his mom, Karla, and the entire Baca family.

Thanks for checking in on us.


Anonymous said…
What a wonderful update Todd! I am so happy to hear your good news. You, Sarah and Caleb (as well as other family and friends) are an inspiration to me! All of your dedication to Ethan and Caleb (and each other) are surely one reason why you are writing a happy update. I LOVE seeing the photos too; I smile to see how the boys are growing so quickly and how Sarah does not age (ahem,you too Todd)! :) I also appreciate seeing the new devices being used. I may suggest it to one of my child care families. Technology can be really great! Thank you also for mentioning and honoring the other children who have earned their angel wings...they will not and should not be forgotten. Take care and cyber hugs to you! Love, Marian
Erica J. Thiel said…
In some ways - take out the MPS and Ethan reminds me so much of my 5 yr old nephew when he was Ethan's age - all the same expressive and language issues and so I know there is hope for Ethan and I know he will do well! Zander talks a mile a minute now (I know totally different reasons but none the less involving the brain) and I for-see Ethan getting there to! Play and day care did wonders for Z and while he still doesnt interact with kids/play with kids in all the typical ways (he more likes to watch than play or play on the fringe but has made friends easily in his classes) daycare and preschool and now Kindergarden did wodners for Z and I think will for Ethan to.
Keep up the awesome parenting Todd and Sarah - and Caleb your an awesome big brother!