A Medical Mystery

Over the last week, a team of doctors have been trying to determine what is wrong with Ryan’s bone marrow, but so far we don’t have a new diagnosis.  The two theories are that it is a very atypical case of Aplastic Anemia (AA), or that it is Myelodysplastic syndrome (MDS) that is presenting in an atypical way.

Either way, he still needs a bone marrow transplant, but the pre-transplant conditioning (chemo and radiation) is very different for each condition.  If they transplant him as Aplastic Anemia and he has MDS, then the MDS can come back, or the transplant can fail.  If they treat him for MDS but he has AA, then the conditioning can be too toxic.

The transplant team is working with Dr. Shimamura and Dr. Ho (researchers and leading genetic experts at Fred Hutchinson Cancer Research Center) and the attending physician has assured me that Ryan is their #1 priority right now.

Ryan already had extensive genetic testing that all came back negative for any abnormalities.  However, they have ordered even more genetic testing. Basically, they are now testing for the rarest of rare genetic mutations.  The goal is to try to confirm MDS.  Unfortunately, the tests generate so much data that has to be analyzed by a human, that results take 6-8 weeks.

I feel like we are in the best hands at SCCA, probably better than anyplace else we could be. The best of the best are searching for answers.  However, I had to do my due diligence as a worried mom, and I reached out last week to one of the other leading bone marrow failure and transplant experts in the country, Dr. David Margolis of Wisconsin Children’s Hospital.  I sent him an email and Ryan’s case must have intrigued him because he promptly returned my e-mail and we were talking on the phone within about a half hour.  We went over Ryan’s history and he reassured me that Ryan is in good hands.  He did say that AA normally does not progress to MDS so quickly. He has since discussed Ryan with the SCCA team and then followed up with an e-mail to let me know that he feels that the Seattle team has done a thorough work-up and that he agrees with their thought process.

One of the SCCA doctors leads a non-malignant disease board that has top experts from eight institutions across the country (including Dr. Shimamura and Dr. Margolis).  Ryan’s case will be presented to this board next week for discussion and to solicit any additional thoughts that other experts may have.

Last night, we had to make a “go no go” decision.  The team was very honest and told me that the SCCA team had discussed Ryan earlier in the day and some of the doctors said “go to transplant now” and others suggested waiting for the test results to come back.  They told me that if I told them to do it now they would.  The benefit of going now would be that the prognosis is generally better with bone marrow failure diseases the earlier you go to transplant.  The down side is that they would be inclined to use the high dose chemo and radiation in case it is MDS.  They said the high dose conditioning is less risky than having to go to transplant a second time if the first transplant fails.

Brad and I discussed it, and at the end of the day, we made a slight negotiation with the doctors.  We will wait for the test results to come back, but we will do another bone marrow biopsy in a few weeks to make sure things are not progressing to something worse.  The deciding factors for us were:

1)     We would prefer to have a diagnosis and know what we are trying to treat.

2)     If we wait 8 weeks, flu/virus season should be mostly over and the transplant risk would be a little lower.

3)     If they can assign a definitive diagnosis of MDS, Ryan may qualify for a current Fred Hutch clinical trial with less toxic chemo/radiation but still using the chemo drugs for MDS not AA.

Today was our last day at SCCA until the first week of April.  SCCA already has Ryan’s 2^nd “Arrival” scheduled and there will be no further testing to try to determine a diagnosis.  By then, he will likely either have a diagnosis of MDS or remain a medical mystery.  Either way, he will still be getting a transplant.

Our last day at SCCA was a long one.  The Seattle Seahawks Superbowl Parade was nearby, so we left at the crack of dawn to beat traffic.  It is now into the evening and we are ending the day with a platelet transfusion.  Actually, the second transfusion of the day.  For the first time, Ryan had a reaction to the donor platelets.  He puked three times and then developed a rash and hives on his face.  They had to do a bunch of testing on the platelets and on Ryan.  They also gave him anti-nausea meds and benedryl. Then, we had to wait a few hours for a new bag of platelets from a different donor.  Here is a picture of him on transfusion #2, finally asleep.  He is wearing his Seahawks shirt.  We were there in spirit today! Go Hawks!