Living on the frontlines

The last few months have been hard ones for sure! I was going to post a health update about the first six weeks of the year. It was one health issue after another. Now all that history seems minor and hardly worth a mention in comparison to what happened next. Feb. 15th I had a major bump along the road to transplant. As part of my transplant workup, I had an endoscopy. Because of my GI history, I do not have a colon for a colonoscopy, so this was the way they could check for any active GI disease. I also have a history of reflux, so they wanted to be sure my reflux was not so severe that it would damage the new lungs. The good news is that the endoscopy was clear. No GI disease. No reflux issues that will get in the way of transplant. And, my thrush had cleared up (one of the problems earlier in the month.) The bad news was the endoscopy landed me in the hospital for five days. Now, I’m still recovering. I should have more strongly insisted on having this procedure at the hospital.

A new gene type of HPS was reported in the January 7th edition of the journal Blood, a journal of the American Society of Hematology. HPS type 10 involves albinism, early onset seizures, neurodevelopmental delay, infection susceptibility and neutropenia. Bleeding was not studied in the patient; however, this new HPS gene does match a mouse model gene with the same platelet issues as all patients with HPS. Previously, there was not a human match for this mouse model. This type of HPS also involves the same protein complex involved with HPS type 2. HPS type 2, however, is not known to cause neurological complications.