Tuesday, July 15, 2010

Tomorrow, July 15, is Ethan’s second birthday.  So it’s time for a long overdue update.  We wanted to update you on Ethan’s condition, our plans to go to Minnesota to consult with the doctors there and our trials and tribulations with our insurance company.

Since Ethan is almost two now, we also wanted to spend some time telling you about our youngest son.  For those who haven’t met him (which is most of you) or seen him in a while, we want to tell you what he’s like and kind of introduce you to him. 

Last week was also the first anniversary of Ethan’s diagnosis.  So, I wanted to write a bit about the things that we’ve learned along the way, in the hope that it might help another MPS family or someone else working with a serious medical condition.

Medically, we’ve been in limbo for quite a while.  In the last journal update, from May 25, I reported that Ethan’s latest chimerism test showed a further slow decline, and that we were waiting for a referral to go to the Hurler’s center at the University of Minnesota Children’s Hospital (UMCH) to consult with the doctors there.

Since then, Ethan’s been continuing his weekly visits to the hospital to receive his enzyme treatments.  The doctors are now pulling blood for chimerism tests monthly, and pulling blood for cellular enzyme level checks every third month.

Ethan’s June chimerism tests showed further decline in the two genetic markers that they use to track the overall level of engraftment and the stability of his transplant.  His CD3 marker was down from 37% in May to 30% now, and his CD33 marker was down from 29% in May to 28% now.   Don’t ask me to explain the interplay of the two numbers, I don’t know whether it’s any good that one number is higher than the other.  From earlier conversations with the doctors, I can say that they seem to be looking at the 28% marker as the real determinate of the state of his transplant, but it may well be that the lowest number is always bad.

Ethan’s chimerisms peaked in one of his first tests post-transplant, I want to say that was in late December or early January, they’ve been declining ever since.   It’s our understanding that taking Ethan off of the immunosuppresents might allow the transplant to lock in at a certain level, or it’s possible that taking him off might result in his body’s immune system attacking the donor cells and trashing the transplant entirely.  Ethan’s been on immune suppressants for a long time.  From what I’ve read, far longer than many other transplant patients.  In April or so, the doctors had tried to started Ethan on a multiple month taper schedule to eventually wean him off of the immune suppressants.  But then they got the results of the May chimerism test and, from what I understand, felt the transplant was too unstable to risk an immune response acting against the donor cells.  So they took him off of the taper schedule and resumed the normal dosing.

This status quo on his transplant will last until either the transplant engrafts or fails.  There’s no way to know when either of those things may happen.  Having it go up significantly at this point, doesn’t seem like a realistic expectation.

The referral to the University of Minnesota has turned into an epic saga.  We started talking with Ethan’s team here about it in late May.  Ethan’s transplant doc talked with his primary care physician at Kaiser Permanente and we received an approved referral to consult with them on June 18.  The referral document that we received from Kaiser covered consultation for treatment options and long-term care regarding Ethan’s current mixed chimerism condition.  It went on to explicitly state that the referral was for consultation only, and no other treatments or services were authorized.

But things are never simple are they?  There are always complicating factors.

We know that Ethan’s body is producing some of the missing enzyme.  When last we checked that seemed to be about 30% of “normal.”  We know that people with levels 50% of normal, like Sarah and I, are perfectly fine.  We know that people with less severe forms of MPS1 (Scheie and Hurler-Scheie) typically have enzyme levels far less than 50%.  But we don’t know at whether Ethan is producing enough enzyme in his brain to protected against further neurological damage.

When we talked with Dr. Orchard at UMinn, he said, that there’s no way to measure the level of enzyme in the brain, and that the only way to assess whether Ethan is producing enough enzyme to protect against further damage is through neurocognitive development testing.  He recommended that we include that testing in the schedule for our visit to UMinn, and we agreed.

Dr. Orchard spoke with Ethan’s primary care physician at Kaiser, she agreed and submitted a request for an additional referral.  On July 7, we learned that Kaiser had denied the additional referral to cover the neurocognitive testing because, they said, that testing was available locally through the Kaiser system.  Since then, a great deal of our time and focus has been occupied with a formal appeal of that decision.  

On July 8, I submitted a four page appeal that essentially argued that while the testing may well be available locally, there’s no one in the state of Oregon with enough clinical experience with Hurler’s syndrome to effectively administer and interpret the results in a way that meaningfully informs Ethan’s care and treatment options.

In that appeal, I also asked Kaiser for an expedited 72 hour review, as opposed to their normal 30 day process.  My rationale for asking for an expedited appeal was that every day that we don’t know whether Ethan’s neurological condition is stable, or don’t have a framework for determining when his transplant may have declined to a level where it’s unlikely that his neurological condition is stable puts him at increased risk for further neurological damage.

When we were preparing the appeal, Sarah and I decided that we would go to UMinn within the next few weeks regardless of whether or not Kaiser granted the expedited review.  If they couldn’t give us a decision within 72 hours, we would go for the consultation, and pencil in the testing in the hope that they’d complete their review before we got to Minnesota.  

We found out a couple of days ago that Kaiser denied our request for an expedited appeal.   Nonetheless, we’ve scheduled our visits for the week of the 26th, booked our tickets, and we’ll go and hope that Kaiser approves the testing before we get there.

Working through the appeal process at Kaiser has been a really frustrating and maddening process.  In the appeal process, the onus is on us to make the medical case for diagnostic options for an extremely complex medical condition. We’ve had to make that case essentially on our own, based on our understanding of the underlying scientific and biological factors of Hurler’s Syndrome and our limited understanding of the treatment options.  

After we learned that the request for an expedited appeal had been denied, I asked the appeal’s administrator who is working on Ethan’s review, if we could pass along Dr. Orchard’s contact information so that the reviewer could contact him and they could have a physician to physician discussion of the medical necessity and rationale to be considered in the appeal.  I was told that we could provide Dr. Orchard’s contact information, but that the reviewing physician would choose to contact Dr. Orchard at their discretion.  We were told that if Kaiser denied our appeal, we could then schedule a time to show up in person for a second appeal and that we could choose to invite Dr. Orchard to participate in that discussion via speakerphone.  I found it pretty inexcusable that Kaiser could choose to ignore a source of relevant and available information in it’s review and sent yet a strongly worded fax to that effect.

Since then, I’ve spoken with Ethan’s primary care physician, and I believe that she’s working on her end to provide additional information to the reviewer, I’ve talked with UMinn and asked for a letter from their head neuropsychology doctor, and I’ve talked with Barbara Wedehase, the executive director of the US MPS society, and I believe that she’s going to provide a general letter of support as well.

It just shouldn’t be this difficult to secure quality healthcare for our son, but I suspect more of these battles are in our future. I’m increasingly of the opinion that we will have to seek more and more of Ethan’s care from one of the main Hurler’s centers (UMinn, Cincinnati or Duke) in order to ensure the best care for him.  So far, we’ve gone through a bone marrow transplant which at best, at this point, will only secure middling success and will have Ethan on some schedule of enzyme replacement therapy for the rest of his life, and at worst may fail outright.  The only Hurler’s specialist in Oregon looks to have only 3 or 4 active patients, and seems to primarily have a research, not a clinical, practice. He’s seen Ethan all of three times in the last year. And as far as I can see the primary orthopedics doc, can’t have seen many Hurler’s patients since the advent of ERT, he’s just surprised Ethan can walk.

Having said that, I think what we’re going to do is go out and talk with the doctors in Minnesota, see what they recommend for Ethan’s care and treatment, talk with them both about their facilities and get their thoughts about the ability of non-Hurler’s specialists to provide that care.  Then when we get back, I think we’re going to schedule a case management meeting with Ethan’s primary care doc to see what Kaiser can really offer and what they can’t.

As difficult as it is for Sarah and I to navigate the insurance company bureaucracy, Sarah and I have enough education that I think we can present these complex issues reasonably clearly and make a coherent argument.  There are any number of parents out there who love their kids just as much as we do, who might not be able to advocate as effectively for their children.  Sarah and I are in touch with the mother of a Hurler’s kid in the UK who has had severe complications post transplant.  She’s at a loss to understand our healthcare system and our restricted access to Hurler’s specialists.  As she said to us recently, “I think if we lived in the U.S., my son would be dead now.”  She wasn’t kidding, and I don’t think she was wrong. 

Anyway, enough of the heavy stuff.  Let’s get onto the fun stuff.

Let me introduce you to Ethan.

The first thing that most people notice about Ethan is that he seems to be an incredibly happy kid.  He’s cute as a button and has a very easy smile.  When he walks, he’s a little knock-kneed and he swings his arms back and forth, not alternating, but both arms in front, then both arms swinging to the back.  And when he’s very determined to go somewhere, he leans forward a bit, and swings those arms back and forth, and smilingly he’s on his way.

He understands quite a bit so you can talk to him and he usually seems to understand what you’re saying. He still doesn’t talk much.  But he’s says a few word approximations and he’s got great inflections.  Even with only 4 or 5 words, with his inflections, volume and mannerisms, he usually get’s his point across.  He says “Ba!” a lot, which seems to mean “you” or “dad” (though dad also seems to be “ma” sometimes).  

“Ba” also seems to be Ethan’s word for his brother Caleb.  This evening at dinner time, the four of us were sitting around the table, Caleb sitting next to Ethan on one side, and Sarah and I at the ends of the table.  Caleb decided he wasn’t hungry, so he went off to play in the other room. Ethan clearly felt that Caleb needed to come back to the table and eat his dinner.  He turned in his chair and kept saying “Ba!” at increasing volume and increasing urgency of inflection.  At first, Sarah and I kept saying and signing to him things like, “Are you finished eating?”  or “Do you want to get down and go play.”  But he ignored us and kept calling for Caleb to come back.  Eventually, I put him on the floor, and he motioned for me to come with him, and we set off in search of Caleb, who we found playing in the sink in the bathroom.  Ethan evidently decided that dinner wasn’t as important as playing in the sink.  So, while Caleb and I went back to the table, it took a little while for us to convince Ethan, and I eventually had to empty the sink and carry him back to the table.

Other word approximations that Ethan knows says are “dat” for “that.”  As in, “Yes, father, you finally have put your hand on the thing that I want, ‘dat’.”  And “yea” for “yes”, as in “‘yea’, I want to go outside and play more.”

For a kid with a lot of orthopedic issues, Ethan also seems to get around pretty well and he knows no fear.  He loves climbing up on things.  He can climb up the ladder to Caleb’s top bunk essentially by himself.  Once up there, he gets a big grin on his face and runs to the end of the bed with his arms swinging away.  It’s a fun game for mom and dad, too, as we trip over the various toys and books on Caleb’s floor, trying to keep up with his progress so we can be there to catch him if he falls--which he hasn’t so far.  He’s also a big fan of climbing the ladders on playsets and going down the slide, with or without his brother.

Ethan likes balls of all shapes and sizes, too.  He likes kicking soccer balls, probably more than Caleb who seems to prefer bugs to balls, he likes throwing balls of all sizes one handed or two handed, whatever may be required.

Where Caleb was into Thomas the Tank Engine at this age, Ethan has taken a fancy to his brother’s matchbox cars.  He likes to zoom them back and forth.  Ethan’s room is a good spot for this, as it’s got hard wood floors, and is less cluttered than Caleb’s room.  So, we’ll sit in Ethan’s room, either with him in my lap or with him sitting on the floor facing me a few feet away, and we’ll zoom cars, and go fetch cars, and zoom them some more.

One my favorite Ethanisms is that he’ll tap you when he’s trying to get your attention.  First he’ll call you a couple of times, but if you’re still not paying attention, he’ll walk up and tap you meaningfully on your arm or leg or whatever he can reach.  He’s clearly tapping on you to get your attention and he’ll keep it up at an interval until you give him your undivided attention.  He does that with us, or with other kids at daycare, or whomever.

If you haven’t gathered by now, Ethan’s a pretty typical younger brother.  He and Caleb get along great--unless Ethan’s got Caleb’s toys--and Ethan wants to do whatever Caleb is doing.  When we drop the boys off at daycare, we go to Caleb’s classroom first.  Ethan has become something of a mascot in Caleb’s class.  Caleb has told them a lot about Ethan and all the kids in Caleb’s class know him.  Ethan walks into the room like he owns the place and goes over to do whatever the big kids are doing, sits in a chair and gets busy.

And finally, Ethan give’s wet sloppy, open mouth kisses, and blows one heck of a great kiss.

Having said all of this, Ethan can also be a very difficult kid to work with.  Partially, that’s due to the fact that he can’t communicate very well, and he often can’t tell you what he wants. Or more accurately, he’s telling you and you don’t understand.  That’s a recipe for an upset kid, especially one that’s been at home for a while and is used to being more or less the center of attention. Often though, there’s some medical issue, at least I think there are sometimes medical issues that will make him difficult.  He will still, occasionally, wake up screaming and inconsolable.  We still haven’t figured out if it’s night terrors, or central nervous system irritation or something completely different.  But when it happens, there’s not a lot you can do except wrap him tight in a blanket, snuggle him close so he doesn’t flail around, try to put a pacifier in and hang on for the ride.

We spend so much time on this blog talking about all of the difficulties and up and down of Ethan’s medical condition, that this Ethan’s journal often becomes our story of working with Ethan’s medical issues. The last two years have been extremely difficult ones for all of us who love and care for Ethan.  But he is a great kid, with a great personality, and when we get past all of the medical issues, he has fun and is great fun to be around.  

I hope you’ve gotten a little sense of Ethan from the stories above.  To me it brings home something that I thought about the first time Sarah and I visited the bone marrow transplant ward.  We walked through the ward and I saw all of these really sick kids who were in their rooms or in the hallway playing.  The lesson that I’ve carried since then, is that yes, these are really sick kids, but all kids need to be have fun and be loved and they’ll give that fun and love right back to you. And that’s what it is all about.

Finally, getting serious again, since we just passed the first anniversary of Ethan’s diagnosis, I wanted to share some things that we’ve learned along the way.  I hope these will help some of the other MPS parents or others of you who are trying to manage critical illnesses.

(The members of the MPS community that we’ve met in the last year are incredible people, and we feel so fortunate to be able to share their knowledge, experiences, love, sadness and most of all their increadible strength.  With what follows below, I hope that just one other new MPS family finds something there that resonates and works for them.  With that being said, I apologize for giving unsolicited advice.)

For dads, I would say, if you can be sure to take paternity leave and stay home to care for your kid when they’re born.  Ethan had severe colic during the period that I was home with him, and there were times that caring for him was like standing next to a fire truck that has the siren on full volume.  And it went on for hours at a time.  But I got to know Ethan then,  I learned how to work with him, and I got comfortable working with him in a way that I never was with Caleb--whom I couldn’t stay home with.  That month has made a huge difference in my ability to take care of Ethan through everything that has followed.

For parents and patients, ask lots of questions about everything, all the time.  Ask your doctor’s and nurses every single question you can think of.   When you first meet a new doctor, ask them about their background and experience working with this problem, treatment philosophy, patient outcomes.  Ask questions about every new medication and new procedure both before and after the fact.  Keep probing until whoever it is gives you a full and complete answer.

Sarah and I try to do this, but it’s actually not easy, especially asking about doctor’s qualifications and outcomes, and probing with doctor’s to get beyond the first answer they give you.  We’re all trained to be polite and not be rude or pushy.  But here’s the catch.  Sarah and I find that when we’re not pushy up front, we end up being even ruder and more pushy later on.  For example, we never asked Ethan’s orthopedic specialist about his specific experience with Hurler’s, how many kids, how recently, what were the issues and outcomes.  Now, we have doubts about how much recent experience he has, but now it’s even harder to go back and ask him those questions.  To do so, clearly implies that we have doubts about his ability to provide Ethan’s care.

Doctor’s also like to give you a surface answer, their canned response.  Go deeper, how do they know, why do they think, what other options are they considering or are available?  Sometimes you’ll learn a lot of good things that can help you when you’re talking with the next doctor.  Some times you’ll hear things you’ll already know.  But Sarah and I find that when we don’t ask all of the questions, and issues arise later, we’re left wondering whether or not the doctor knew enough to think of this thing in the first place.  Always try to know what your doctor’s plan is and how today fits into that plan.

Always advocate for your kid or loved one or yourself.  Fight every battle that you need to fight with your insurance company or your doctors.  The fight that you don’t engage in, might set a bad precedent for the future.  The fight that you win might open important doors later on.

For MPS parents or others working with rare diseases, follow as many stories and journals of other MPS kids as you can.  You’ll learn as much or more from other families’ stories as you will from your doctors or the MPS societies or anything else.  When Ethan was first diagnosed, I started reading MPS families’ blogs, like this one.  Then I stopped, because I felt that their kids were on a different path or at a different point in their fight.  With hindsight, I now feel it’s important that I understand as much of their stories as possible, as early as possible, because even though not everything there will apply to us or work for us, it’s important that we understand different options, outcomes and standards of care.  

For those making medical decisions for others.  Make the best decision you can, based on the information you have.  MPS and other critical conditions force us to make difficult choices that we shouldn’t have to make.  Not all of the outcomes will be good ones.  Often times it feels like a crap shoot, but for so many of these decisions, the alternatives are even worse.  We all do what we have to do, and we can’t look back and kick ourselves. It wasn’t a fair contest to begin with.

Thanks to all of you for being there for us over the last year and as we continue to support Ethan in his fight.

Peace and strength to us all.


P.S.  It was well before midnight when I started this.  It’s now well after midnight.  So, HAPPY BIRTHDAY, ETHAN!!