Wednesday, February 14, 2007

Hope on the Horizon

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

Dr. Yao from the National Institutes of Health.
He will be running the GI protocol for Hermansky-Pudlak Syndrome.

  1. Trisha Ferris Says:

    Your post expresses both profound disappointment & reason for profound hope. I will be praying that Katy can get in on this study, and that she has the strength to hang in in the meantime. The Lord is going to use Katy’s illness to bless manuy people in the future just as He has already.

  2. Anne Poler Says:

    I find it a very positive development that the NIH will be specifically looking at the GI issues of HPS. I’ll also be praying that Katy will be admitted to the study, that more answers will be found, and that she can find some relief.

    Also, loved the picture of Paul Burton in the green gloves. Very photogenic!!!

  3. Linda Says:

    Dear Katy,

    What a blessing it has been to see God’s love poured out on you & your family in these recent difficult months. So many of us have gotten to know the Lord more intimately by seeing His love demonstrated in your lives & in the lives of those who have ministered to you. As so much focus is put on love today, we know that the ultimate love was in God’s giving of His Son for our eternal benefit. Thank you for being such faithful servants in such trying times.

    Katy, you are truly a sweetheart through & through. I hope you feel the love of the many, many friends & family that you have & more than that the love of the Lord because He has shown us what real love is like….and His love never changes!

    Bless you this day, dear Katy!

    Love to you & yours.

  4. Sandy Says:

    When I saw this news on Heather’s blog, I was so excited about the possibilities for Katy! I am glad they will be willing to see patients who are actively sick with the GI issues. Wonderful news!

  5. Carson Kistner Says:

    I have just returned from the annual widow’s luncheon we have at church each Valentine’s Day. Etholene Wills asked specifically about you today, Katy. When I gave her a little summary and told her you were frustrated over the numerous set-backs, knowing that the Lord still had work for you to do, this wise senior saint replied, “Oh, but don’t you know that He is using her right where she is.”

    Of course, we know that and your friends remind you frequently of that truth, though I think we do not see a fraction of what is really going on from God’s point of view.

    May His grace and mercy sustain you this day, dear little sister.


  6. Karen Tillman Says:


    I truly hope that Katy will get into the protocol. I know that it is a much needed issue of all of us that have colitis and HPS that needs to be addressed. My prayer is that it will help Katy’s quality of life as well as the life of others to be greatly improved, and I also pray that all i are dotted and t’s are crossed very soon!!! Take care and know that you are loved.
    Karen Tillman