Wednesday, November 23, 2016

Hundred People Search Update

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

Wednesday, November 09, 2016

HPS Network attends NOAH Conference



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.

Genetics Essay Contest

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 attempting to treat, and explain how the therapy might repair the underlying cause of the disease or condition.

2017 Question

In the early 1990s, gene therapy was hailed as a potential treatment or cure for many genetic diseases and conditions. Unfortunately, problems during clinical trials, including the death of a patient due to a fatal immune reaction, forced scientists to re-think their strategies. Recent advances in biology have made gene therapy more promising than ever and expanded the field beyond its original concept of providing an additional, functional copy of a malfunctioning gene to specific cells. Choose one modern example of gene therapy (since 2005), describe the disease or condition researchers are attempting to treat, and explain how the therapy/approach might repair the underlying cause of the disease or condition. 

Students can win up to $1,000 with a matching $1,000 lab equipment grant for their teacher! We will award 1st, 2nd, and 3rd place winners, as well as 10 honorable mentions. Each teacher is invited to submit up to six essays per class, for up to three classes. Please consider sharing this exciting opportunity with your colleagues in the language arts, as well as in the sciences. It is an excellent way to implement “writing across the curriculum!”

We hope you can build this essay into your teaching plans and look forward to reading your students’ insightful essays. Please email dnaday@ashg.org if you have any questions.

Good luck!

Wednesday, October 05, 2016

Hundred People Search

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

Friday, September 30, 2016

Hundred People Search Update

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! 

Tuesday, September 20, 2016

Hundred People Search Update

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! 

Monday, September 12, 2016

Health Update – the dental saga continues

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 this was supposed to happen.

I know root canals are not bloody procedures. After my experience last February, however, it isn’t the expected bleeding I was worried about. It was the ability to handle unexpected bleeding. I met with my hematologist (who I LOVE!) and he put my mind greatly at ease about that issue.

The other concern I had was how I would bounce back after the anesthesia. Before I was on oxygen and had procedures done my oxygen levels would never require oxygen afterwards, but they would drop to the low 90s when they were always 98 to 100 percent before. I don’t have much reserve these days. If I do need oxygen after a procedure, it might be more than the average person coming out of the fog. I was very worried about this being adequately managed in an out-of-the-hospital setting. My pulmonologist agreed.

So, the good news is that if I have this done, it will be at the hospital. I expect that if it goes smoothly, they’d just send me home afterwards. But, if my lungs are a little sluggish afterwards, they have the option of giving me high flow oxygen and keeping me for observation. That goes a long way to helping with my anxiety about this.

The bad news is this will mean seeing and getting evaluated by dentist number four – one with hospital privileges. That could take some time to set up, and I’ve been working on this since my six-month exam in June! If I’m close to being listed, my feelings are (excuse my language) but screw it – pull the xxxxxx tooth! When it comes down to teeth or lungs, I’m going for those lungs baby!

Because I am already missing a back tooth on that side of my mouth, I wanted to avoid pulling it. I suspect that pulling it will mean some other work long term.

So, now my plan is to see where the transplant team is at in regards to their thoughts about me at my next appointment. If this is the one thing holding me back, then I know I can get it pulled relatively quickly. If, on the other hand, they want to see me again in a few months before doing anything, then maybe I have time to save the tooth.

I’ve always had anxiety about being listed. Who wouldn’t. But, now I’m feeling more anxious. In the pre-op for the anesthesia, I saw a copy of my CT report that was to be given to me at the next transplant appointment. (Not that it is a secret – I just didn’t see the point of worrying about it until the next appointment.) The report says there has been some progression. This doesn’t surprise me. I know my normal oxygen for casual walking has gone up a liter. To walk fast, I need more than the little concentrator can generate. I have to check myself and remember to walk slower, which is hard to do sometimes.

Health Update – the dental saga continues

Inova Fairfax Hospital

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 this was supposed to happen.

I know root canals are not bloody procedures. After my experience last February, however, it isn’t the expected bleeding I was worried about. It was the ability to handle unexpected bleeding. I met with my hematologist (who I LOVE!) and he put my mind greatly at ease about that issue.

The other concern I had was how I would bounce back after the anesthesia. Before I was on oxygen and had procedures done my oxygen levels would never require oxygen afterwards, but they would drop to the low 90s when they were always 98 to 100 percent before. I don’t have much reserve these days. If I do need oxygen after a procedure, it might be more than the average person coming out of the fog. I was very worried about this being adequately managed in an out-of-the-hospital setting. My pulmonologist agreed.

So, the good news is that if I have this done, it will be at the hospital. I expect that if it goes smoothly, they’d just send me home afterwards. But, if my lungs are a little sluggish afterwards, they have the option of giving me high flow oxygen and keeping me for observation. That goes a long way to helping with my anxiety about this.

The bad news is this will mean seeing and getting evaluated by dentist number four – one with hospital privileges. That could take some time to set up, and I’ve been working on this since my six-month exam in June! If I’m close to being listed, my feelings are (excuse my language) but screw it – pull the xxxxxx tooth! When it comes down to teeth or lungs, I’m going for those lungs baby!

Because I am already missing a back tooth on that side of my mouth, I wanted to avoid pulling it. I suspect that pulling it will mean some other work long term.

So, now my plan is to see where the transplant team is at in regards to their thoughts about me at my next appointment. If this is the one thing holding me back, then I know I can get it pulled relatively quickly. If, on the other hand, they want to see me again in a few months before doing anything, then maybe I have time to save the tooth.

I’ve always had anxiety about being listed. Who wouldn’t. But, now I’m feeling more anxious. In the pre-op for the anesthesia, I saw a copy of my CT report that was to be given to me at the next transplant appointment. (Not that it is a secret – I just didn’t see the point of worrying about it until the next appointment.) The report says there has been some progression. This doesn’t surprise me. I know my normal oxygen for casual walking has gone up a liter. To walk fast, I need more than the little concentrator can generate. I have to check myself and remember to walk slower, which is hard to do sometimes.



I can’t say I wouldn’t feel anxious, but maybe less anxious, if I knew I could be listed tomorrow if I had to be.

Sunday, September 11, 2016

Fifteen years later – Sept. 12th, Remembering the day after





On previous anniversaries I’ve blogged about where I was on Sept 11, 2001 and how I spent the day. I’ve blogged about my thoughts for all of those affected by the disaster. Today, amid an atmosphere so polarized, I want to remember the day after – Sept. 12th.

When I was a kid my grandparents’ generation talked about how America rallied together during the war. There was a feeling of unity that they remembered well. On Sept. 12th, I walked through my neighborhood in Overland Park, KS to get some fresh air. Every house, every single one, displayed the red, white and blue. No one’s house was Republican or Democrat, Christian or Muslim, White or Black – we were Americans. We were united in the way I imagined when my grandparents talked about the war. I spent the day of Sept. 11th, and several of the following days, doing stories from the American heartland for the South China Morning Post. I remember doing one about flag sales and how Americans were displaying the flags. By Sept. 12th, you couldn’t buy an American flag. I ended up making a wreath for our front door (that didn’t turn out very well honestly) out of red, white and blue ribbon because we didn’t have a flag and I couldn’t find one. Flags lined Metcalf and flew outside of every business.

Now, we are so divided. It was a spirit that only really lasted a few weeks at most. It unraveled. 

Of course Sept 11th was horrible. None of us would ever wish it. I am grateful, however, that for a brief moment I experienced that kind of American spirit. It’s the spirit which says, we are ALL Americans. This is us. You can hurt us. You can wound us. You can kill us. But, this is who we are. This is who we can be. We will not surrender. We are not defeated. In the midst of so much division and nastiness, it is nice to be able to remember that brief moment in time.

Thursday, September 08, 2016

Hundred People Search

I'm a bit behind on updating the Hundred People Search. In the last few weeks, we have added two new HPSers to the HPS patient registry. If you know anyone with HPS who is not a member of the Network, please encourage them to join - even if they don't want to participate in any other way. We need to prove to research that we are out here, and that we NEED A CURE!