Friday, August 14, 2009


Ethan had his first enzyme replacement therapy today.  And he did great!  We also got some good news on Caleb's test results!

Sarah, Ethan and I showed up at Doernbecher's around 9 a.m.  The nurses inserted an IV line into the vein on his right hand--which Ethan obviously wasn't wild about--and then taped his hand and wrist to a small, short board so that he couldn't bend his wrist and dislodge the needle.

They gave Ethan some benedryl and tylenol or something, by mouth, and then about a half-hour later started the Aldurazyme infusion.  The Aldurazyme is mixed in a solution of saline and some other stuff, and they hang a very small bag, maybe 6-8 ozs, for a slow, four hour infusion.

They started the infusion about 10:30, and a couple minutes later, I was able to pry Sarah out of there so that she could go back to work and save her leave time.

Ethan conked out for his normal morning nap around 15 minutes later and he slept for about an hour, woke up, took some more formula and went right back out.  He slept pretty well for those first two hours, but the nurses had a blood pressure cuff on his right arm that was automatically taking his pressure every 15 minutes.  I think the squeezing of the pressure cuff kept him from sleeping more soundly.  But he did pretty well all things considered.  Hopefully, he'll eventually learn to ignore the pressure cuff. 

Ethan woke up about 1pm and then for the rest of the time we sat for a bit, then rolled his IV pole along and went down to the play room for a while.

Ethan tolerated the IV line really well, it was amazing how quickly he realized that the fingers on his right hand were taped and he couldn't move his wrist so he adapted and started using his left hand almost exclusively.  It was kind of tough for him when he was trying to walk along the furniture and the walls.  He couldn't grip with his right hand, so didn't have a free hand to pick up whatever cool things he had his mind set on.  When he was hooked up to the blood pressure monitor and the IV, he had tubes coming off both arms, so moving him around was a constant tangle and puzzle.  Hopefully, I'll get better at managing that.

Around 3, he'd finished the infusion course and they ran him on pure saline for another 45 minutes to finish flushing out the enzyme and getting everything into him.  Then, they unhooked him and kept us around for a half hour so that they could keep an eye on him.

Throughout the course of the day various folks dropped in.  Before Sarah left, Ethan's pediatrician, Dr. Liebo dropped in on his day off, before leaving for a long weekend vacation with his family.  Dr. Liebo has been fantastic both in communicating with us and in working the phones behind the scenes getting everything arranged. It was very nice of him to stop by.

About a half-hour later, one of the genetics counselors we've been working with dropped by and we discussed DNA testing for Ethan to localize the genetic mutation and testing for my sister and Sarah's parents to try to localize the condition so that extended family members who may carry this gene can be aware of it and consider genetic testing prior to conception when they are having families.

An hour after that, the head MPS guy at Doernbecher, Dr. Harding, came by.  He had just received Caleb's MPS test results and I was very happy to learn that Caleb doesn't have MPS.  It was pretty clear that Caleb didn't have MPS 1 - Hurler's, but I wasn't sure if he might later develop a less severe version.  Dr. Harding said that the way MPS I - Hurler's works, is that if it appears in the family then other children will develop the same (Hurler's) severity, and will not get the less severe types of the disease.  He said that they were almost positive going in that Caleb didn't have MPS IH, but wanted to check.  That was an indescribable relief.

It is still possible that Caleb may be a carrier.  We talked about that in the context of Caleb as a possible bone marrow donor.  We're waiting on the HLA typing for the boys, and we'll receive that anytime between tomorrow and the 20th.  Dr. Harding said that he had just learned of a new study out of Great Britain studying the impact of carrier-sibling donors on Hurler's patients.  Because carriers have less of the alpha-L-iduronidase enzyme (though enough to process cell waste normally), that MPS patients engrafted with carrier marrow may still have low enough levels of the enzyme that skeletal issues continue to develop abnormally post transplant. Think of it this way.  If a carrier has 50% enzyme reduction, and the MPS patient has 0% and the donor bone marrow is 50% engrafted, then the MPS patient's enzyme level would be 25% of normal.

So, we're going to see if Caleb is an HLA match. If he is then we'll do further testing to see if he's a carrier. If Caleb is a match and a carrier, then Dr. Harding says we may still want to consider him as a donor. Harding said that as a sibling, the advantages of the genetic similarities in decreasing the chance of rejection, may outweigh the potential longer-term issues.

While Ethan was napping I could hear guitar playing and singing coming from one of the other patient areas. It turned out that it was a hospital volunteer singing to patients on the ward. She came by soon after Ethan woke up and offered to sing some songs for him. I gotta tell you, the scene of a volunteer singer going around and entertaining to patients, is something that I kind of figured just happens to really sick kids. Then I realized that she was singing to a really sick kid, my kid. And as she was standing there singing “Twinkle Twinkle Little Star” while Ethan sat in my lap, I started tearing up. The next song she sang was “You are My Sunshine”, "You are my sunshine, my only sunshine, you make me happy, when skies are gray, you'll never know dear how much I love you, please don't take my sunshine away.” By the time she got that far, the tears were silently streaming down my face. I think she noticed my reaction, she didn't finish the song. That's always been one of my favorite songs, but I don't think I'll ever listen to it the same way again.

Sarah's parents, Bob and Pat, came by just before Ethan finished his his time on the saline. They were kind enough to sit with Ethan for a bit and give me a chance to stretch my legs and my back. Shortly thereafter, we were done and ready to head home. We hit the road just before 4:30, after a good but long day for both of us.

They say that most Aldurazyme infusions go pretty well for the first few times. Around about the fourth infusion, some kids have a reaction as their white blood cells actually react to the enzyme as a foreign body and try to fight it. If that happens, then they'll have to reduce the amounts and ramp them back up over time. We'll keep our fingers crossed that they all go as well as this first one!

So, today was a good day.

Before we wrap this up though, we can't let another journal entry go by without mentioning and thanking the boys' great day care providers. All of Ethan's and Caleb's teachers have been incredibly supportive both of Ethan's current needs-- like his profound difficulty hearing and the fact that he's not on solid foods yet--and of Caleb's needs in giving him just a little extra attention so that he doesn't feel forgotten in everything that's going on with his brother. The love and caring they have shown to both boys has really helped take a lot of weight off our shoulders. Thanks to you all.

Thanks for checking in on us.  It means a lot.

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