We have just heard that there is something quite amazing happening with treatments for HPS. The timing of this is no coincidence in our view. The following information has been copied from Heather Kirkwood’s website. She attended the HPS conference in New York and wrote about it to inform others. Heather has been a good sounding board for me as we have experienced so many disappointments with doctors lately. There is a sentence in the paragraph below in which Dr. Yao acknowledges that the GI problems of HPS are not effectively addressed at this point. We have certainly witnessed that. Katy’s doctor told her just two days ago that since all her tests are coming back normal there is nothing more they are willing to try. That news was not what Katy expected. She went to bed last night feeling weary by the thought of having to go on living with the misery she now is enduring. We wondered if all these prayers for Katy, and prayer for wisdom for the doctors, is something God will use to help not only Katy but thousands of others suffering in much the same way Katy has. Our hope is that Katy will qualify for this protocol and help the scientists and doctors at NIH better understand the physical differences in those with HPS.
A new G.I. Treatment Protocol for Hermansky-Pudlak Syndrome was announced by the National Institutes of Health. It was announced in New York at the family conference last weekend. They’ll be launching a treatment protocol for the GI problems associated with HPS “sometime this spring.”
Heather writes:
“The final paperwork isn’t yet complete, so please keep in mind that last-minute changes can still be in the works that I don’t know about. All I’m reporting here is what was announced at the conference.
Dr. Yao, a fellow working under Dr. Mannon, will be running the day-to-day operations of this protocol and thus presented it to the HPS patient community. Dr. Yao is a new doctor to HPS, but he’s been “assigned? to us by Dr. Mannon. Our mission now – wow Yao in hopes that he takes on HPS as his personal cause! Grin! Since the protocol paperwork isn’t yet complete, however, there is not yet a patient services person for interested families to contact. Don’t worry! The minute there is I assure you I’ll be posting it!
So, the crux of the protocol.
Essentially, Dr. Yao said that medicine has an incredibly poor understanding of the GI issues associated with HPS. In some ways they resemble ulcerative colitis and in other ways Crohn’s disease. Two years ago a “suspect cytokine? was identified that might be part of the problem, but in subsequent studies it wasn’t found to be as prevalent as first thought.
The problem is getting research for an ultra rare disorder isn’t easy. NIH chose to focus on the lung problems of HPS first because although treatments for the GI issues for some patients are less than ideal, most eventually do respond to some therapy and can go weeks, months or years with little if any problem. The pulmonary fibrosis of HPS, however, is 100 percent fatal and there was no treatment option available.
While this tactic is understandable, for those really suffering from the GI issues it still falls woefully short of what is needed. And, NIH agrees.
One of the challenges to understanding the GI issues associated with HPS, however, is that NIH never sees really, really sick GI patients. As there’s been no treatment protocol, they weren’t prepared to take on patients in the midst of a crisis.
The result, however, has been that patients with HPS and GI problems get treated at home, each in their own city, and each with their own doctor. The result is a pile of case studies and isolated incidence reports. It’s hardly a comprehensive way to study a disease or a systematic way to determine which treatment options are likely to get the best results.
So, my impression of what this new GI protocol intends to do is to gain a better understanding of the biochemical processes involved by seeing more patients and not necessarily only when they’re well.
The doctors are looking for patients over 18 years of age (although minors may be considered on a case by case basis) who have a confirmed HPS diagnosis, history of GI problems, documented inflammation in the GI system and preferably those that are only somewhat controlled by their current treatment. Dr. Yao did stress that patients shouldn’t be too quick to think that they might not meet the entrance requirements. He asked that if we have GI problems, to go ahead and get in touch when the protocol opens and let them look at our cases to decide if we’re a good fit.
Patients who look like they’re good candidates will be asked to come to NIH for a screening visit – probably involving several days in the hospital getting tests done. The team will do a comprehensive medical record study, carefully look at the patients’ medications, history of responses to the medications and look to see if there’s anything that they can do to optimize the treatment.
If the current medications the patient is receiving seem to be poorly controlling the GI issues, NIH will suggest other options. All treatment, including medications, will be free at the NIH. Patients will travel to NIH (at NIH’s expense) every few weeks to few months, depending on how responsive their GI issues are to treatment.
If a treatment doesn’t work, they’ll try the next most powerful one, up to and including Remicade and Humera. The protocol is a treatment protocol, but no placebo is involved since they’re studying which treatment options, already FDA approved, work best for patients with HPS. However, Dr. Yao did say that if even Remicade was unsuccessful for a patient, the team would then look at experimental drugs as options for that patient.
It’s a good start at doing more for HPS patients than performing colonoscopies and taking biopsies. It would be more comforting to think that the scientists had uncovered some brilliant possible cure they wanted to try out – but, on the other hand, this is a first step. They’ve got theories but they need more data.
The folks at NIH have a better understanding of HPS than anywhere else, even if they don’t have all the GI answers. I’m hoping that if we as patients can cooperate with their research, we can quickly give them what they need to determine the next step.
The other reason I’m thrilled about this protocol is that it removes the whole issue of cost from the picture. There are so many HPS patients with either no insurance, or not-so-great insurance that seem to be getting less than optimal treatments for economic and not medical reasons. That impacts our understanding of what really works best. Since NIH seems to be willing to provide any treatment needed, even Remicade at $10,000 a dose, we really will get a better picture of what works best – and offer many HPS patients a chance at better treatments they won’t have access to at home.” -Heather Kirkwood
Dr. Yao from the National Institutes of Health.
He will be running the GI protocol for Hermansky-Pudlak Syndrome.Comments:
To God be the glory! May you fight on with the banner of Joy in your Salvation proudly before you! 
February 28th, 2007 at 2:52 pm e
Hey Dawn,
Something you probably already know, but point to remember. Be sure they give her DDAVP prior to surgery, and that they have platelets on standby. You would probably need to contact someone at NIH to know how soon before the surgircal procedure that DDAVP should be given if your surgeon doesn’t already know. Take care and give Katy a BIG hug for me.
Love
Karen Tillman
February 28th, 2007 at 2:57 pm e
You are all in my prayers! I have often wondered why they didn’t remove her gall bladder before when that was the diagnosis at that time. Thinking about the pain Katy might have been spared!
February 28th, 2007 at 3:15 pm e
Hey Dawn,
Hang in there. You guys have been on my mind all day. One other thing about the DDAVP - it only works for about 30 percent of HPS’ers so make sure those platelets are ready! Actually, when I’ve had something done that I know is going to involve a LOT of bleeding, I just get the platelets from the beginning. I usually heal better. But, you should probably talk to a hemotologist about what is best in this situation. (I hate giving any kind of medical advice, but for us, this bleeding thing is a big deal.) I know you’re probably already on top of that - but I’ll throw it out there anyway just to be on the safe side.
March 1st, 2007 at 12:50 am e
Hey Dawn and Katy,
I know that you have been talking to our parents. I am sorry to hear about all of this. I just wanted to let you know that you are in our thoughts and prayers. God is in full control of your life and he will supply all of your needs. Having your gall bladder removed might solve all your problems. Just keep relying on him.
We love you.