Flashback 3 - The results are in...

Post date: May 27, 2009 4:27:31 AM

Third installment in the flashback series...

Read the 1st and 2nd installments.

October 8, 2008

The Test Results

Four weeks after our hospital stay, and the day before my birthday, I got a call from the metabolic geneticist. She said the results had come back from the genetic testing and was I in a place where I could talk? Taking a deep breath, I told her we could talk. But I already knew what she was going to say.

The test was positive. Connor had Pearson's.

The rest of the blurry conversation consisted of the mundane tasks of setting up follow-up visits and further tests. Instead of worrying and praying about what-ifs, we now had to deal with the realities.

Doctors and Tests

Hematology - October 10, 2008

Two days after "the call" and the day after a rather subdued birthday celebration for me, we had our first follow-up in the Hematologist's office. Connor was doing fine, but his counts were continuing to decrease. His last transfusion had been in the hospital in September. He would need to be monitored and if his hemoglobin and hematocrit fell below a certain level, then he would require another transfusion.

Metabolic Genetics - October 14, 2008

The next week, we took Connor in to see the metabolic geneticist and her genetic counselor. This was purely a follow-up meeting and an opportunity for us to ask questions. We spent well over an hour, maybe closer to two in the office. We had a lot of questions.

The genetic counselor went over the process of mitochondrial inheritance with us using a binder with pictures and diagrams. It was like we were in high school biology again. By this time, we had done a fair amount of research and reading, so much of it was validation of what we had already learned. I think this appointment was really a way for the doctor to gauge how well we were dealing with the devastating diagnosis more than anything else.

She gave us an Emergency letter we could bring if/whenever Connor had a crisis that required hospitalizations so that the ER staff had some basic ideas of what to look for. Since Pearson's is so extremely rare, this letter would prove as a useful introduction in the subsequent months.

Mom's Test - October 16, 2008

This doctor's visit was not for Connor, but for me. I went into my internist's office so that they test my blood for any mitochondrial deficiencies. In most cases, Pearson's Syndrome is considered a "de novo event", where the mutation occurs when the egg was formed, rather than a trait inheritance from a parent. In these cases, no other family members have a related illness. However, there has been one documented case where the mother of a Pearson's boy had a mitochondrial disorder and because of this, her mitochondrial deficiency was passed to the child, who was diagnosed with Pearson's.

I now was being tested to see if that might be the case with me, although it seemed unlikely since I had no typical symptoms of mitochondrial illnesses. After giving several vials of blood, they were labeled and packaged, ready to be sent off for testing. Basically this was the same test that was done on Connor to confirm his diagnosis. It would be another four weeks before I got my results back.

Next installment... Flashback 4 - Two and a half days