Skip to main content

A moment to brag

It’s so great to get to post when I get to brag on one of our own. Nisha is a 15-year-old HPSer, recently returned from Space Camp. She was able to get a scholarship from NOAH.
This may sound corny, but I see HPS kids as “my kids.” I don’t have kids of my own. Most of what I do to try to find better treatments, and someday a cure, will likely never benefit me. It gives me meaning and happiness because I think it will one day benefit them. I don’t have kids, but I know these kids will live on and live better lives if we do the work for the cure now.

I’ve known Nisha’s mom for years and met them both twice at an HPS conference.

I’m very grateful to them both for being so willing to share their HPS story. You see, Nisha is the poster child for why all kids diagnosed with albinism should be screened for HPS. She’s a great example of why it is so important to know for sure. That’s a hard sell in the medical world, but it is the Nishas I’ve met that convince me we are right about this issue.

Nisha was adopted from India.  A few weeks after she arrived, her mom noticed bruises for which there was no obvious explanation. Nisha’s mom had studied about albinism before brining Nisha home. She had read a little about HPS in materials provided by NOAH (thank you NOAH for being willing to work with the HPS Network to do this). She was referred to the HPS Network and Nisha was tested, even though everyone insisted she probably didn’t have HPS. It’s rare. It’s a Puerto Rican thing…all of the common things we’ve all heard before when parents try to get their kids tested for HPS.

What do you know but Nisha was positive for HPS. That information probably saved her life a few weeks later when she required open heart surgery. I shudder to think how that might have gone if no one realized she had HPS. They would not have seen it on the pro-op tests. Her platelet count would have been normal, so there would have been no reason to give her platelets.

But today, Nisha is thriving and going to Space Camp. She’s a smart girl and has a bright future ahead of her. I’m proud to be able to brag on her. Grin! Here’s the story about Nisha in the local paper.


Comments

Popular posts from this blog

Ratner's Cheesecake

Here's another recipe from Toby! Thanks Toby......and I'll get the others posted soon! Ratner's Cheesecake and plain cookies Ratner's was a Jewish dairy restaurant in the lower East Side of Manhattan. This recipe, from my disintegrating, no longer in print Ratner's cookbook, is the closest I've ever gotten to reproducing the rich, heavy cheesecake my mother made when I was a kid. It's worth the time it takes to prepare and every last calorie. Dough Can be prepared in advance. Makes enough for two cakes. Can be frozen or used to make cookies – see recipe below. 1 cup sugar 1 teaspoon vanilla extract 1 cup shortening 1 teaspoon lemon extract 1 cup butter 2 eggs 3 cups sifted cake flour ½ teaspoon salt 2 cups all purpose flour 1 teaspoon baking powder 1. In a bowl, combine all ingredients with hands. Refrigerate 3 -4 hours, or preferably overnight. Filling (for

The next generation with Hermansky-Pudlak Syndrome

I'm so behind on posting about the trip to Puerto Rico. Since the episode of Mystery Diagnosis on Hermansky-Pudlak Syndrome ran right after we got home, it's been a little busy. These, however, are my favorite pictures from Puerto Rico. I know, not pretty senery etc - but these little guys and gals inspire me. They are the next generation of folks with HPS, and if we keep up the hard work, they will live better lives because of it. They motivate me.

Some good news about Pirfenidone

Below is a press release from Intermune, the company that makes Pirfenidone. They have essentially reviewed the various clinical trials going on, and decided that Pirfenidone is safe and well tolerated. That would pretty much go along with what we've observed in the HPS community as well. We have a few folks that have been on the drug since the late 90s and continue to do well. Of course, as a journalist, I do have to say consider the source - but at the same time, as someone in a Pirfenidone trial, it's good to know. Results of Comprehensive Safety Analysis of pirfenidone In IPF Patients Presented At European Respiratory Meeting - Analysis shows safety and tolerability of pirfenidone across four clinical trials - VIENNA, Sept. 14 /PRNewswire-FirstCall/ -- InterMune, Inc. (Nasdaq: ITMN ) today announced that the results of a comprehensive review of safety data from four clinical studies were presented at the 2009 European Respiratory Society Annual Congress in Vienna, Austria