Well, I had planned to do the next update after Ethan had finished all the referrals and specialist vists that I talked about in the last post. But Ethan’s life is action packed, and I fear if I waited until then the resulting journal entry would crash the Caring Bridge servers.
Since last we left our hero, we’ve learned more about his transplant chimerisms, had a renal ultra-sound, had visit with an opthamologist, a speech pathologist and a visit with an audiologist, and had his blood enzyme levels rechecked. In life before and after those visits, he’s continued to be a happy, fun kid; but he is having a pretty hard time sleeping and his chronic runny nose has returned. In and amongst all of that, we’ve also been on a quest to find a babysitter. And today, we learned that Ethan’s going to start back on enzyme replacement therapy (ERT) starting next week. Details on all of this, and more in the update that follows.
Right about after I posted his last update, we learned that Ethan’s chimerisms had gone down again. (Chimerism measures the percent of donor dna vs his original dna in his blood producing cells; higher donor percentages mean his body is more likely to be able to produce the enzyme he’s been missing.) They measure four markers in assessing Ethan’s chimerism. Ethan’s first test post transplant showed that 3 of the 4 markers were in the high 80s/low 90s, one was about 70 something. Ethan’s second chimerism test, from January, showed that all of the levels had decreased, and his third test from February showed that they’d decreased further. I don’t have the numbers in front of me, but as I recall, the most recent test showed that three of the markers are in the 50-60% range, with the fourth in the 30-35% range. The first three markers show how much his blood production is coming from donor vs host dna. The fourth marker is an indication of the stability of the transplant, higher numbers meaning more the transplant is more stable.
While they’re testing his chimerism, they’re also running cellular level tests on his production of the alpha-L-iduronidase that his body is missing. The enzyme level for a normal person with two good genes is 300. A typical level for a non-symptomatic hurler’s carrier like Sarah and I would be half of that or 150. Ethan’s level before the transplant was 0. His first positive test was from a January blood draw, it was 129. We just received the results from his March blood draw and the level was about 96.
You may recall that Ethan had stopped his weekly ERT after the 129 result. However, since then, Sarah and I have seen some signs and symptoms that he might need to start again; and when they got the 96 result today, the docs decided to start him back up.
I think restarting the ERT is a good and necessary move at this point. Sarah and I had started to see some symptoms that had us wondering if he wasn’t producing enough enzyme. Ethan’s chronic runny nose returned over the last 4-6 weeks. It’s hard to tell when it started, because he had a cold in the middle there. But the cold is gone and the runny nose isn’t.
More troubling, Ethan’s been having a hard time getting to sleep and staying asleep, and his behavior reminds us of what he was like before ERT. Over the last month or two, when we try to sit down with him to get him to sleep, he’s been crying and wiggling like he’s got some minor to moderate pain somewhere. He hasn’t been arching his back or flailing his legs like he’s in severe pain, and his crying hasn’t been anything like the extreme colic that he went through pre-diagnosis. But we’ve had to start giving him both ibuprofen and Tylenol at bed time, and we’ve recently started wrapping him up in a blanket again so he can’t wiggle and squirm as much.
It’s been really difficult for Sarah and I to get a sense of this and respond to it because it’s been building up week by week. At first, it was just a week or two of having him be hard to get to sleep or waking up 30-45 minutes after he went down. We weren’t sure if maybe it was teething pain or not, but it didn’t seem to bother him when he was up during the day. Then we started giving him Tylenol to see if that would help. It did help some, then he’d wake up after a couple of hours and we’d give him some ibuprofen that would help him get back to sleep. After a week or two of that, we found that we were daily giving him both ibuprofen and Tylenol at bed time and that definitely seemed to help him sleep. At the same time, he started waking up regularly, crying hard, during his daytime naps, again after about 30-45 minutes.
Ethan’s had a hard time sleeping since he came home from the hospital, and from what I’ve read that’s not uncommon in transplant kids. When we were looking at this day to day, it came on gradually, and our response grew gradually. I think it was when I had to start wrapping him in a blanket at bed time to help him settle that it really hit me that I didn’t like how he was doing.
I tend to think that the ERT will help him. It will certainly clear up the runny nose. I think it will help with the sleeping, too. But the reality is we don’t know that the sleeping issues are related to a lack of enzyme.
The larger issue is, of course, Ethan’s ability to produce the enzyme and the stability of the transplant. If Ethan’s body can’t produce the enzyme, then he can’t get any in his brain and he’ll deteriorate neurologically. Sarah and I have long known that about 20% of Hurler’s kids require a second bone marrow transplant. Often times, if a second transplant it needed, it’s apparent early on during the hospitalization period and they stabilize the child then go through the chemotherapy regime again and do a second transplant. In fact, when Ethan went in for his transplant, the hospital stocked in two donor units in case they needed to do a second transplant. We also know that the mortality for hurler’s bone marrow transplants is variably quoted as 20-30%.
I don’t think Sarah and I ever considered that we would all get this far and be faced with the thought that we’d have to go through the hell of a second transplant.
The doctors aren’t talking about second transplants though. According to them, Ethan is doing well transplant wise. They say that it’s normal for chimerisms to fluctuate during the first year. They also say that the ability of a decreased chimerism to bounce back UP varies according to the disease in question, and they don’t know with Hurler’s what the likelihood is that his chimerism may go back up before stabilizing.
All of which means, we’re just still waiting. Waiting to see if the transplant will stabilize and if it does whether or not there will be enough of the donor DNA to produce the enzyme.
Okay, well, on to the non-transplant news.
Some good news. The renal ultra-sound showed no problems. The concerns about kidney function that came up while Ethan was in-patient and having severe high blood pressure seem to have resolved themselves.
More good news. The opthamologist examined Ethan in mid-March and said that there the corneal clouding (imagine looking through a slightly dirty window) hasn’t gotten any worse than it was pre-transplant. So, there’s no need to consider a cornea transplant at this point.
The speech pathologist saw Ethan in late march and said that his auditory comprehension and verbal expression skills are in the 7-10th percentile for a child his age. Ethan met with the audiologist a couple of weeks later and she confirmed that Ethan’s hearing of speech (in that frequency range) is okay, but his hearing of middle frequencies shows mild impairment, and his hearing of upper frequencies shows moderate impairment. We’re meeting with the pediatric ear, nose and throat doctor on Monday. It looks like we’re going to get Ethan fitted with hearing aids pretty soon.
I think the hearing aids will be a good thing. Whatever we can do to help Ethan’s cognitive and communications development is good. I’m not sure how much the hearing aids will in fact help him learn to speak. The hearing tests confirmed what we knew, Ethan hears most things quite well. I think his delay in speaking is a combination of factors related both to the significant fluid buildup in his ears prior to his ear tubes being placed, but perhaps more at this point to his larger than average tongue, and perhaps some mental deterioration from the hurler’s.
On a happy note, Ethan’s started using some sign language like “more” and “eat” and “finished” and Sarah and I are trying to learn more and work more ASL into our communication with him. And on an even happier note, Ethan started saying “Daddy” recently. Of course, with him, it comes out Duh-Duh, which is pretty appropriate for me, I suppose. He’s also started pointing at things and saying “that” which is helpful, as long as HE actually knows what he’s pointing at and he’s not just generally waiving his hand at everything in the refrigerator. That leads to 5 minute sessions of “this? No. This? No? Whaddya want, kid?!”
Ethan’s also scheduled to meet the pediatric orthopedist at the end of this month to look at his spinal kyphosis, pectus excavatum, his knock-kneedness, and ankle flexibility. Hurler’s kids always have a range of ortho-skeletal issues that develop. So these are the issues we know about, I wouldn’t be surprised if more came up at the exam.
When I last wrote, I was glad, happy but weary, that we were moving out of transplant and into dealing with the Hurler’s issues. At this point, it seems like the transplant issues may not be behind us. But I’m still glad that we’re moving as quickly as we can with the Hurler’s issues. I’ve been reading a number of other Hurler’s kids journals over the last month, and one of the conclusions I reached is that it’s a good thing to deal with these other issues as quickly as you can, or as is medically reasonable. I find I now wish we’d pursued hearing aids for Ethan while he was getting ready for transplant. I wonder how much further along he might be at this point.
In other news, we’ve been trying for a month or so to line up a babysitter for the boys. Ethan’s generally a good kid, and his medical needs aren’t what they once were, but medically and behaviorally (like if he’s having a hard time going to sleep) he can be a challenge. Sarah’s 40th birthday is coming up next Saturday. A year ago, before Ethan was even diagnosed, we bought tickets for she and me and her parents to go to the symphony. But since Sarah’s parents are our primary babysitter, we weren’t quite sure how we were all going to be able to go. A staff member at the children’s hospital mentioned a home care service that does stuff like this, and it looks like they’re happy to provide a certified nursing assistant to come babysit both boys. I feel a lot more comfortable knowing that the person here will be comfortable giving him his meds, will be aware of his hickman, and will be, hopefully, a little bit more patient with him.
And finally, we’ve actually scheduled a vacation for everyone to head to the beach the first week of May. This will be the first time that we’ve gotten out of town since last September when we went camping down at the beach. (Those of you who remember the camping, may recall Caleb’s comment at the end, “Dad, maybe one or two days of camping would be better than a week.”) As much as Sarah and I could use a vacation, I really think that it’s Caleb that needs and deserves a break. Since Ethan was diagnosed last July, he’s really only had the camping trip and a week off at Christmas. Kids should have vacations and unstructured time.
That’s it from here for now.
Peace and strength to you all.