Thursday, July 23, 2009

It's been a busy week.  And there's a lot to update.  But first, I want to thank all of you for checking in on Ethan (and on Caleb and Sarah and me).  I'm going to say it a million times, but it's true, knowing that you're there supporting us does make a difference.

It's hard to believe that it's almost Friday.  We got the subtype diagnosis on Monday.  Tuesday was uneventful but just generally a pretty shaky day.  Tuesday afternoon, Dr. Harding, the head MPS doc at Doernbecher Children's Hospital (DCH), called and fit us in for a consultation on Wednesday.  So that was Wednesday, and then today we talked with Dr. Orchard, the head MPS doc at the Univ. of Minnesota (the largest MPS treatment center in the US).

So, we've talked a lot this week.  Got a lot of new information, and deepend our understanding of some things that we already had a sense of.

For our Wednesday conversation with Dr. Harding, we left the boys at daycare, so we could focus on learning as much as possible before everything gets nuts.

We started the conversation, because it was a shorter topic, talking about Caleb and the bone marrow donation process.  Some point soon, both boys will meet with the hematology/bone marrow transplant team at DCH.  They'll draw blood from both boys and check them for their HLA characteristics.  (HLA being the mystery acronym for bone marrow genetic matching thingamabobs.)  Caleb will also have a sample drawn for an MPS screen.  We know that Caleb doesn't have MPS1 like Ethan, because it would have shown up by now.  But he can't be a marrow donor if he's a genetic carrier.  So there's something like a 25% chance that he'll be able to be Ethan's donor.

If Caleb can't be a donor, then the docs will go next to stored cord blood, and finally to the national adult marrow donor bank.  We learned that there it doesn't have to be an exact match.  The closer the HLA match, the lower the likelihood of complications.  But the doctor's would ideally like to get the transplant done in November or December.  The earlier they get it done the earlier Ethan's body can recover and start producing the enzyme and the earlier the degeneration can be stopped. So at some point they'll go with the best they can find.

While they are doing all of that, we'll be very busy with a lot of other things.  Before transplant, the doctors want Ethan to have at least 12 weeks of enzyme replacement therapy.  The ERT will help flush the GAG --the acronym for the really long word for the crap being stored in his cells--and will strengthen his body a bit before the transplant.  So, Ethan will undergo surgery to have an IV port installed in his chest.

So, we've got a call in to the pediatric surgeon to get that scheduled.  I'm hoping that we can get the surgery on the schedule on the phone and won't have to wait until we come in for the pre-op consult (fat chance, I'm sure).

After we talk with the surgeon's office, we'll schedule another Ears, Nose and Throat visit to see if they can do ear tubes during that surgery and whether or not they want to remove his tonsils or adenoids.

We also need to get him in for an opthomology (eyes) visit to assess the extent of his corneal clouding.  We need to get it done pre-transplant, but it's not urgent and I think we'll wait on that until the port is in.

The obvious question here is why all the rush to get to the bone marrow transplant if the ERT will clear the waste from his cells.  Well, the enzyme doesn't pass through the blood/brain barrier when it's administered intravenously.  UMinn is doing some tests going on to see about administering the enzyme into the spine to get it up to the brain, but they're still testing it and it doesn't sound like they're certain yet how much it is helping.

So, the only way right now to get the enzyme to Ethan's brain, and stop the neurological deterioration is to do a bone marrow transplant so that his body can start producing the enzyme.

The thing is that the mortality rate for MPS bone marrow transplants is 20%.  So with a transplant you take a 4 out of 5 shot that you can arrest the progress of the disease.  And take a 1 in 5 risk that your kid will die.  With ERT only you avoid the risk of the transplant and your kid will get physically stronger, but may continue to deteriorate mentally.   

Some families don't do the transplant.  They just stick with weekly ERTs.  Sarah and I know that we're going to go with the prevailing medical advice that says get the transplant and get it done as quickly as you can.  But Christ, it's no kind of choice that anyone should have to make.

There are a couple of variables in the timing for the transplant.  The first is how Ethan's body responds to the ERT.  They'll give him the first treatment the day of the port surgery.  So I guess that'll be at least one overnight stay.  If he doesn't have a reaction to that full dose then they can move quickly.  If at some point he has a reaction, then they'll have to lower the dose and ramp it up again.  The second variable, is if we go with an unrelated marrow donor, then it will take some time for that person to come in for secondary screening and to schedule the proceedure on that end.

If Caleb is the donor, then it'll go like this.  Ethan will go into the hospital about a week before the transplant date for chemotherapy to kill his existing marrow and to "make room" for the new marrow.  Caleb will come in on the day of the transplant and they'll put him under, then extract the marrow, via a needle, from both hips.  They'll filter the marrow for bone fragments then give it to Ethan via an IV that same day.

After that, Ethan will be in the hospital at least 2 months. Could be 6, depends how he does.  They'll monitor his blood cell counts to see how the new marrow is engrafting and they'll monitor his immune system to determine when it's strong enough for him to be released. Once he's released, he'll likely be back at the hospital 3-5 times per week for the next month or two so the doctor's can track his progress.  While he'll have some immunity when he leaves the hospital,  the docs say it will take 1-2 years before his immune system is completely normal.

One of the points that we talked with Dr. Orchard (at UMinn) about was how quickly Ethan's body would start producing enzyme post transplant.  He said it takes about four months or so for transplant cells to get to the brain and until that happens the neurological deterioration continues.

If the transplant cells become engrafted, then Ethan's body should start producing enough enzyme to stop the disease.  After that it's an ongoing struggle to deal with the damage already done.  Physically, it's a laundry list of ortho-skeletal issues, often cervical instability, the kyphosis we already know about, often carpal tunnel, hips, etc..

From a neurological and mental development standpoint, it will be hard to seperate Ethan's mental development from the physical ailments: likely some hearing loss (correctable with hearing aids), slower speach development (probably a lot of work with speach therapists), vision problems (glasses), maybe cornea transplants, gross motor skill problems, carpal tunnel, etc...   The good news is that underneath all of those issues, it is not inconceivable that Ethan may have relatively normal intelligence.

Honestly, we try not to think that far ahead.  It's just too maddening, frustrating, sad..  We try to keep bringing ourselves back to focusing on today--the immediate need to see him through the transplant and stop the disease.  We're just trying to keep putting one foot in front of the other.

But today, Sarah and I both got to play with our boys.  Today was a good day.