Living on the frontlines

We have added a new HPSer to the patient registry. This puts us at 97 to go on this year's Hundred People Search! 

Now that I’ve blogged about how the trip to NIH went from a health standpoint, I thought I’d blog a bit about how it went from an emotional standpoint. Honestly, it was a tough trip this time. In past years I’d always tried to go to NIH with a friend whenever possible. It makes the time go faster. Thankfully, I never have to wait long for test results. These days Kevin is really awesome about not keeping me in suspense. Years ago, you had to wait all week to get any results. Still, the waiting…waiting for the tests…waiting for the appointments…waiting for the results…it can seem to drag on forever. All the while, one can’t help but worry. It might seem silly, but sometimes I feel like the one time I’m at ease, the one time I’m not worried, will be the time something will catch me unprepared. The truth is one can never be prepared for some of the news these tests could bring back. It makes no sense to me that somehow if I see it coming it won’t be so bad when it finally comes. Y

After a three-year absence, I returned to the National Institutes of Health Clinical Center for a check-up as part of the natural history study on Hermansky-Pudlak Syndrome. The results were overall a mixed bag, but mostly good news.  I had much more anxiety about this trip than many in the past; perhaps as much as I had on my very first trip here. I’ve had a chronic cough for about a year now. No one has been able to determine the cause and so we all assumed it was probably due to the progression of my lung disease. There are times when I have a kind of spasm and cough for 20 to 30 minutes at a time. Afterwards, I just feel exhausted. I feel like I have to go lay down and take a nap because I feel so overwhelmingly tired. I get bruises on my stomach from the coughing.  My local doc prescribed a cough suppressant which has helped with the coughing spasms, but has not completely gotten rid of the cough. I still cough, but it’s a dry hack that lasts maybe a minute or two each

We've added a new member to the patient registry. That puts us at 98 to go on the Hundred People Search. 

Donna Appell, President and Founder of the Hermansky-Pudlak Syndrome Network, was honored as guest faculty and gave the opening plenary session at the Maternal and Child Health Bureau Developmental-Behavioral Pediatrics Fellowship Training Annual Meeting on April 3rd. Her presentation was titled “Hermansky-Pudlak Syndrome: Diagnosis, Prevalence and Management.” The event was held at the Sheraton Hotel in Stamford, CT and attracted about 75 health professionals.

For the first time, the husbands of women with HPS met in their own breakout session to discuss how to support one another and their wives. “It was a small group, but it’s definitely something we want to do again,” says Anthony Creer, who organized the meeting. Creer is active in HPS Network outreach and continues to support his wife Janet. Janet received a lung transplant several years ago. To read more, go to:  https://www.hpsnetwork.org/en/news/2013-04-03/husbands-of-those-with-hps-rally-for-support