Living on the frontlines

Happy Thanksgiving everyone! We just added a new HPSer to the registry. That puts us at 78 to go on the Hundred People Search. 

The HPS Network attended the national conference of the National Association for Albinism and Hypopigmentation (NOAH) in Pittsburgh in July. Donna Appell gave a presentation about Hermansky-Pudlak Syndrome, as well as helped out at a number of other sessions for parents. “It is important for everyone with albinism to know the facts about HPS, not just the people that have HPS,” says Appell, “It is the albinism community that is most likely to encounter people with HPS. They are in the best position to look out for each other and help possibly save lives.” The HPS Network also sold Dare to be Rare merchandise at the NOAH event.

As anyone who ever wanders over to this blog anymore will know, I am not keeping it up well. The HPS Network is having a lot of trouble with our Website just now, however, so am going to try to post some of the many news stories we are doing that aren't getting out there here. Please know this is not meant to be shameless self blog promotion. I'm just trying to fill a temporary gap until things are working a bit better.  I'm passing along this bit of news for anyone interested:  Dear Educator, Help bring DNA Day into the classroom by  submitting  your students’ essays to the American Society of Human Genetics’ DNA Day Essay Contest. Now is the perfect time to start thinking about essay ideas for the upcoming new year. Our submission site will open in early January, with  submissions due March 11 at 5:00 pm U.S. Eastern Time. This year, we’re asking students to identify an example of gene therapy, describe the disease or condition researchers are att...

We've added another HPSer to the patient registry. This puts us at 79 to go on the Hundred People Search! 

We added a new HPSer to the registry this week. This puts us at 80 to go on this year's Hundred People Search! Keep outreaching. We need you more than ever! 

We've added three more HPSers to the HPS patient registry in the last few weeks. This puts us at 81 to go on the Hundred People Search (HPS). Please encourage anyone you know with HPS to register, even if they don't want to be involved beyond that. It is a way to let research know we are here, and we want a CURE! 

My next transplant appointment is in roughly two weeks. I had hoped I’d be listable by then, but it’s not going to happen. The dental saga continues. Honestly, I’m a little frustrated. I need a root canal before I can get dental clearance. After much back and forth (that I won’t get into here) the doctor that was going to do the procedure now cannot do it. The problem is that my cough is so bad; I can’t promise that I can not cough during the procedure.  If you’ve seen my cough, you know it isn’t a dainty little cough. It is a violent cough. It can go on and on and on sometimes. So, the plan was to use sedation. The only way to stop the coughing, however, was to do general anesthesia. My pulmonologist (rightly so I think) nixed doing it at an outpatient dental anesthesia center. I was very worried all along that this plan wasn’t the best one, but everyone seemed to think I was overacting – so instead of checking this out first, plans went on and only came to a halt days before t...