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More thoughts on the GI protocol

I was a bit sorry I had to mark such a huge event, the opening of the GI protocol for Hermansky-Pudlak Syndrome at the NIH, with such a quick post the other day. So, here are some more thoughts on this subject.

First, if you’re interested in more information, you really need to call Donna at the HPS Network. If you call or e-mail me, I’m just going to tell you to contact her. I wasn’t at the meeting she had with Dr. Yao about the specifics of the protocol, so what I know about it is general information only.

The other quick little disclaimer I want to throw out here is that these are just my thoughts as a totally non-medical person. So, if anyone out there wants to correct me or take exception with my thoughts on this subject, please have at it.

The opening of the GI protocol is indeed a big event for us. Huge! Exciting! A major step forward! I’m thrilled.

A few of you wrote to ask me if this was indeed the first HPS GI protocol at NIH, remembering a call for volunteers that went out a few years ago.

That’s true. Several years ago Dr. Mannon and his team opened a research protocol to study the GI issues of HPS – but that was research only. They performed colonoscopies and endoscopies of several HPS volunteers, some with bowel disease and some without. They were trying to better understand the nature of the Crohn’s-like symptoms among many HPS’ers. I remember that protocol because I was one of the volunteers.

This time around, however, the protocol isn’t just collecting samples for research. This time they are evaluating which Crohn’s treatments seem to work best for patients with HPS, and hopefully, they’ll start to gain a better understanding of why certain treatments work better than others. That information will hopefully provide the clues they need to then develop even better treatment options.

That’s why the protocol is so exciting for us. It’s the beginning of greater things to come, we hope.

As I said before, the protocol is small and there are a lot of criteria that have to be met, and exempting criteria that you can’t have, to qualify. You must not be on certain types of medications. You must be sick enough that your GI symptoms are active (needing ongoing treatment) but not so sick that you’re encountering many complications. That’s easier said than done. You can’t have had certain types of surgery. Your blood work must meet certain criteria.

There is a method to the seeming madness. I think they’ve set up the criteria as it stands because they feel it will give them the best picture about whether changes in treatment are having any effect. If someone is too sick, or has too many drug reactions etc. – how can you be sure whether bad results are due to those drug reactions, or simply barking up the wrong therapy tree?

In the end it’s for the benefit of us all.

I am so grateful to our researchers – all of them. I feel honored to know them. They have a difficult job, more difficult than we as patients often appreciate.

From my perspective, sometimes this work can be so hard. I was so naïve when the Pirfenidone trial opened. I wasn’t part of the Network yet for the first trial, and so I approached the second trial not fully understanding what we would be in for exactly. Yes, it’s exciting to have the trial open, to know that we’re working our way closer to the goal. But there were things I didn’t think about in the beginning.

For starters, I remember thinking Kevin was such a pessimist for thinking the recruitment for the trial would be so hard. It seemed to me like we had HPS’ers needing this sort of help coming out our ears. Finding 40 patients seemed like nothing. Boy was I wrong!

I didn’t appreciate how hard it would be to overcome many of the socio/economic obstacles we’d encounter. But perhaps the thing that has impacted me most personally that I didn’t anticipate was the number of people who would not qualify for the trial because of other medical reasons.

During the past two years there have been nights on the phone with other HPS’ers who didn’t make the trial because of other health issues. They are hard conversations for me. Sometimes I feel a kind of guilt for even trying to be encouraging or comforting because I did get into the trial. Who am I to know what it was like to be turned down? I can well imagine, but it’s not the same.

Other times it’s frustrating personally to encounter people who would make the trial, but don’t want any part of it. It isn’t that I don’t respect their position. I have to respect their choice. Besides, it does us more harm than good to have people admitted to the trial that aren’t dedicated to it. In the end, that’s worse because it could lead to bad data for a good option. But, that doesn’t mean that there aren’t days when that’s tough for me.

It’s worth it though. It’s worth it to make the research move forward. It’s worth it for the benefit of everyone – HPS’ers now and in the future.

I worry that I might not sound as excited as I truly am about this development. I am so hopeful about the outcome. I’m hopeful that the GI folks at the NIH will fall in love with the HPS community. I’m hopeful that perhaps our Crohn’s-ish “stuff” will help to shed light on better treatments for everyone with Crohn’s. I’m hopeful that perhaps, eventually, following more and more HPS’ers with bowel issues, they’ll eventually figure out why only 20 percent of us develop the bowel issues, while the other roughly 80 percent don’t. Could the answer to that question perhaps be a clue in the bigger HPS puzzle? Is there a relationship, a link if you will, between the lung and bowel issues, and could that be another clue?

There’s so much to learn both in pursuit of better treatments and in pursuit of the cure. Opening this protocol is a nice, big step in the right direction.

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