Saturday, August 1, 2009


The last week has been a period of family time and some initial steps on this long journey. 

Last weekend we took 4 days to camp out near Lincoln City on the coast.  First time camping with the boys (other than in our living room) and we had a good time.  Did lots of digging and exploring tide pools at the beach as well as just relaxing at the campground (they had a great playground.)  We made the requisite s'mores over our campfire and had fun trying to sleep two kids and a grownup in one double sleeping bag.  It was nice to get away. It was great to see Caleb freed from his normal routine and structures and exploring in ways that he doesn't tend to do at home. Caleb loved the beach and explored with all the gusto of a four year old. We also went to the Oregon Coast Aquarium, which was one of our goals the summer.

That was our first vacation since our maternity/paternity leave when Ethan was born last year. Before getting Ethan's diagnosis, we had also scheduled a long weekend in September to go to Seattle and a week off in November to take a vacation house at the beach. We'll almost certainly have to cancel both of those so we can save our leave time.

When we got back to town, there were lots of messages from our doctors waiting for us. So we've been working the phones a lot this week and things are starting to move along.

On Thursday morning, we had Ethan's early intervention observation.  A physical therapist from the school district came over and we watched Ethan play and eat to get a general idea of his developmental skills.  It basically confirmed what we already had been seeing...that his social, emotional, and gross motor skills were doing ok, but his fine motor skills, and receptive and productive listening skills were a bit delayed.  She also noticed that Ethan is still eating more like an infant than a toddler, that is he's still moving food in his mouth using a suckling motion rather than grinding it between his molar plates.  It may be related to an enlarged tongue which is common with Hurler's kids.  We signed papers so she can get his medical records, etc.  and Ethan will get his standardized testing done at the end of August.  That's when we'll put together an Individual Family Service Plan to say which services he'll get (probably 2 visits a week at daycare.)  I'm so grateful that my friend at work who used to teach special education, knew about this early intervention program.

Also on Thursday, we were scheduled to take both boys up to the hospital to get the HLA testing done. We had explained to Caleb that Ethan's blood wasn't producing something that he needed to process his food. (Not exactly correct, but it's a context that Caleb can understand.) We explained that as Ethan's brother, Caleb might have something in his blood that might help Ethan. Caleb thought about that for a second and asked if the doctors would have to poke him with a needle. We said “yes,” and Caleb thought about that quietly. When we went in for the test, Caleb was a very brave big brother and went first to get his blood drawn.  He looked nervous, but no tears! It was a huge change from the last time he had shots for vaccines last fall, and we were really proud of him!  Ethan cried, naturally, but he stopped as soon as we let him up.  We anticipate results in a week or so to see if the boys are a good match for each other. 

After the HLA testing, we went over to the infusion center where the Bone Marrow Transplant Coordinator gave us a tour of both the infusion area as well as the transplant area.  We've gotten Ethan's first transfusion scheduled for next Thursday, so it was good to see the facility.  We've found out that we can start the infusions even before Ethan gets his port placed.  It will be easier once that is in, but we wanted to start the infusions as soon as possible. Infusions will be about 6 hours once a week until the transplant.

Visiting the transplant ward, where kids stay after bone marrow transplants was a melancholy experience. On the one hand, it was really hard to see these kids fighting for their lives, and to feel their pain, and to know that Ethan will be there all too soon. On the other hand, while we were there this 3 or 4 year old kid was running up and down the hallway with his nurse and giggling up a storm. It was a wonderful and much needed reminder of how resilient kids are, and that kids are still kids and should always still be played with!
The doctor's have also ordered a urine test for Caleb. They've told us that the test is to check Caleb for MPS, but I don't know what the range of possible outcomes might be—whether it's a simple yes no test or more nuanced. We know that Caleb does not have MPS I – Hurler's, but he may well be a genetic carrier. If so, his body isn't producing a normal amount of the alpha-l-iduronidase enzyme, but carrier's bodies do produce enough that MPS doesn't develop. However, as we study MPS more, we've learned that MPS I manifests at different severities along a spectrum. Caleb may not have the defective gene, he may be a carrier or he may have inherited defective genes from both Sarah and I. We know that Caleb does not have the severe form, Hurler's, that Ethan has, but it is still possible that he may have a less severe, or attenuated, form that would manifest anytime from now until adulthood. Typically, individuals with attenuated MPS don't suffer from neurological degradation, but often develop similar, though less severe, skeletal issues. When we first told Caleb that the doctors wanted a sample of his urine, he thought we were making it up, but he played along! We took the sample in today and will hopefully have the results in a week and a half or so.

This coming week, I think we'll also be able to get into the pediatric surgeon to discuss the port placement surgery. We've learned that Ethan will be getting a “double lumen Hickman port” it's a port that will be placed in his chest for the ERT treatments. It will come out of his skin and will have two lines, one for infusions and one for blood draws and other meds. When it's not in use, it will be covered by a bandage and when Ethan's at daycare, he'll need to keep a shirt on so that he and the other kids don't play with it.

We're also trying to get the appointment with the ear, nose and throat docs to get an assessment and confirmation that we can include ear tubes with that surgery. Ethan seems to have a really hard time hearing. We know that he has fluid behind both ear drums, we don't know if he also has hearing loss due to nerve damage. We're really hopeful that the ear tubes will dramatically improve his hearing and his speech development.

The other medical issue we've been working on is trying to find out if we can get a genetics case manager from Kaiser to help arrange the infinite referrals, tests and follow ups that we'll need for the foreseeable future. Our primary care doc at Kaiser, Dr. Jeffrey Liebo, is fantastic, and was recently selected as one of the best pediatricians in Portland. He's been extremely responsive and proactive in getting things in place, following up and advocating on our behalf. But we recognize that he's also got a full case load, and Kaiser doesn't give him any extra time to do this kind of constant follow-up. Also on Friday, we learned that he's retiring in November, which was really, really bad news. So we'll have to work with him to get recommendations for a new pediatrician soon.

Mentally, I think we've mostly gotten over the initial shock and sadness, and from a certain perspective, it's amazing to me how quickly one accepts such a radically altered reality. We know that this is here to stay and we're dealing with it. At the moment, it's kind of like a constant weight in the back of our minds. We can push it away and be normal for a while, but when things quiet down, we notice that it's still there.

Thanks for checking in and for the continuing prayers, support, light and positive thoughts. It all helps.

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