Thursday, July 21, 2009

Dr. Harding from OHSU called Sarah yesterday with the results of Ethan's blood rests.

The results confirmed that the subtype diagnosis of MPS I (Hurler's Syndrome) was correct.  This is relatively good news because bone marrow transplants are an option for MPS I.  If Ethan had MPS II, the only treatment option would be enzyme replacement therapy.  Enzyme theraphy can help slow the physical degeneration associated with MPS, but under current treatment protocols the enzyme does not pass through the blood/brain barrier, so nuerological degeneration continues.

We're meeting with the head MPS speacialist at OHSU this afternoon.  This will hopefully be a frank and broad ranging discussion of the disease and the treatment process.  Sarah and I have done a lot of reading on MPS, but it will be helpful to confirm our understanding, to go deeper on all of the issues and to make sure that we all have the same understanding of what to expect.

What we think will happen over the next few weeks:

Caleb will be tested as a potential BMT match.  It's my understanding that he can only be a donor if he is not a genetic carrier of the disease.  There's a 25% probability that he is not.

If he is not a match, the doctors will next look at stored umbillical cord blood.  Cord blood can evidently develop into different types of cells, and cord blood transplants (CBT) carry a lower risk of rejection.

If there is no match in the stored cord blood banks, then the doctors will look for an adult unrelated marrow donor.

Meanwhile, Ethan will undergo surgery to insert an IV port to receive the Enzyme treatments.  During that surgery, the doctor's may also insert ear tubes to drain the fluid in his ear drums and may do a tonsillectomy or adnoidectomy to help with his mild sleep apnea.

Enzyme treatments (ERT) will be once a week.  The treatments last 4 1/2 hours, not including travel and prep time.  The doctors will likely do a minimum of 12 weeks of ERT to build up Ethan's system before the transplant.  ERT may well go longer depending on how quickly a match is found and how quickly the doctors are able to ramp up the enzyme levels through the treatments.

Somehow, even though Sarah and I both knew that there was little liklihood that the blood work results would disprove the original diagnosis, I think we were both shaken by the confirmation, and I think we're both working to regain a little equilibrium today.

After a week and a half of waiting, though, it will be nice to talk in concrete terms about what we can do.  The fight really does begin today. 

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