Jan's Corner 2006

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Contents

December

Christmas Shopping

1 December 2006

At the end of October, I bought my first Christmas presents. Okay, I know, Christmas was still a few months away. But I was shopping for a birthday present and saw some things that caught my attention and decided it was time to get started. I shopped for a few hours, happy with my purchases. But that night, my feet woke me up about 1:00 am and I couldn’t go back to sleep for several hours. I thought, “Why are my feet hurting so badly?” And then I remembered – Christmas shopping! And that’s why I start early every year, even though Dave good-naturedly teases me about it. I can’t just get it all done in a few days because I my feet won’t let me have marathon shopping days. (I know, I can internet shop and I do – but some things I like to see for myself first.)

With PC feet, sure I can say I’ll tough out the pain to get things done. I often do. But I have to remember that I’ll do damage that’s going to affect my life for several days – and it will happen within the day, if not immediately after walking or standing. It will affect my sleep too, unfortunately. I’m also a mom of three active boys. I need to choose wisely which activities I plan to waste my feet on. Besides, I confess, it’s harder to be a happy, cheerful mom when my feet are so sore I can’t see straight.

When I was a child, I remember seeing a movie about a young girl with a disease that caused her pain when she walked. She wanted to be a runner and learned that if she made monster faces while she ran, she could work through the pain. I was so inspired by that movie. The next time there was a chance to run a race at school, I ran with all my heart, through the pain. But the little girl in the movie only dealt with the pain while she ran. She didn’t deal with oozing sores afterward and increased pain on top of the pain she normally felt. I think I was given a little dose of PC reality that day when the sores on my feet turned into a total mess as a result of my running. And when I realized I wasn’t going to be like that girl in the movie, I was very disappointed, to say the least.

But I’m not discouraged now. I just have to pace myself, even if my mind runs faster than my body. And besides, Christmas shopping for several months keeps me in the giving spirit longer than just a few days, right?

October

RNA Interference

1 Oct 2006

This month, you may have heard the news that the 2006 Nobel Prize for Medicine was awarded to Craig Mello and Andrew Fire, two American scientists “whose discovery of RNA interference has revolutionized the science of genetics. In discovering that specific genes can be silenced through RNA interference, therapeutics are now being researched to treat, among other things, genetic diseases.”

PC research has been directly affected by this incredible discovery. The most promising research being done right now for PC patients is in the field of RNA interference. Already, scientists affiliated with PC Project have successfully inhibited the expression of the K6a gene in both tissue cultures (cells in a dish) and in mice. The treatment has been given “Orphan Product” status through the FDA meaning it has a special process at the FDA because it is for an ultra rare (called Orphan) disease.

Currently, toxicology studies are being performed to test the safety of this treatment. The treatment is given to mice over a period of 28 days and dozens of tests are performed to check all of the their organs and measure every possible thing to be sure there are no problems with the treatment. Better to experiment on mice (although very expensive) than on humans! This is necessary before our scientists are able to apply for FDA approval for human clinical trials. This is remarkably fast progress.

Since PC Project begun about three years ago, I have been awed and amazed at the timing of things. How incredible that just eight years ago, these Nobel Prize winners first made this remarkable discovery and now, our very own PC scientists are working to make this knowledge applicable to our skin disorder.

Just today, Mary and I were reminiscing about how one of the main scientists, who is working on RNA interference for PC Project, came to be part of our group. It’s nothing short of a miracle that Roger Kaspar came to our first meeting at Park City in 2004. He wasn’t on our original list of scientists, but Dr. Leachman wanted to include something on RNA interference as one of the possible approaches for PC. A colleague at the UofU told her about Prof. Kaspar and although invited at the last minute, he came to Park City and made a presentation on his work (called hairpin RNA).

Everyone was impressed that after Prof. Kaspar listened to what the other scientists had to say about PC research possibilities, he told the group he thought some of the other approaches such as siRNA were more applicable to possible PC research than the hairpin research he had presented. We thought perhaps that was the end of his research contributions to PC. But Roger Kaspar didn’t forget about us. And through a series of small, significant events (one including lunch with us in a hospital cafeteria as he was passing through Salt Lake City), Prof. Kaspar made a career change and partnered with PC Project to start a small biotech company that is devoted to PC research, primarily with siRNA interference! I could tell you amazing stories about all the main scientists who are working together to find a cure for PC. The timing is too uncanny to be ignored. These scientists each seem to step in with their contributions at just the right time in the research process – and in the patient support process. Many, many times, Mary and I both have shed tears of gratitude for them.

I will probably never meet in person with Professors Mello and Fire. But I thank them for the countless hours they surely spent in their labs to discover something that may truly be applicable to me, my boys, and all my PC friends. I also thank the scientists I do know, for their time and efforts in making the findings of Mello and Fire something that has given me, for the first time in my life, hope of walking pain-free someday. Our PC scientists may not be the Nobel Prize winners this year, but they truly emulate the word “noble” to me. Thanks to all of you!

September

Back to School

1 September 2006

Back to school... Jan said the new PC brochures really made it easy to visit with each teacher and school staff to explain PC. But back-to-school is a busy time for Mom's PC or not! Watch for an October posting.

August

Children With PC

1 August 2006

At the recent PC Patient Support Meeting in Dundee Scotland I spent much of my time with the children who have PC. I was amazed at the resilience of these children with PC. These kids are bright, happy and fun to be with. I was also impressed with their parents who have instilled good self-esteem in their children, regardless of the challenges these kids face growing up with PC.

The experience made me thankful for my own parents. Though I was shy, and in many ways insecure about myself growing up, I always had a good self-esteem. That may seem a contradiction. But walking awkwardly, or with crutches and having what I thought were ugly nails (probably because people told me I had ugly nails) made me feel insecure about myself. However, regardless of what people might have thought about me or even said to me, I liked myself and always knew I was a person of worth. I thank my parents for that.

At the patient meeting, I was able to spend time talking with many of the parents with PC children, particularly those parents who have children with spontaneous mutations of PC (these kids are the only ones in their family with PC). I was able to answer lots of questions as we shared experiences about raising a child with PC. Many parents also shared their feelings as well as challenges both they and their child have faced and how they’ve coped.

Again, I thought of my parents. I, too, am a spontaneous case of PC. There was no PC Project when my parents went from doctor to doctor trying to determine how to best care for me. They were basically on their own as they tried to figure out how to deal with nail infections, painful blisters, special shoes, social situations and so on. How they would have loved to have talked with other parents or someone else with PC. How blessed we are now to have this opportunity.

The parents I met at the patient support meeting have done incredibly well with their PC children. Their kids touched my heart with their smiles, talents, and undemanding love. These children are amazing individuals and a joy to be with. That doesn’t mean the heartaches and trials aren’t there. But I salute great parents and their awesome kids. What a privilege to meet them all. I think it’s wonderful that we have a resource to be together and to help one another while we raise our PC children. Thank you PC Project!

July

Thank You

1 July 2006

THANK YOU to all the patients, family, friends and the amazing physicians and scientists who attended the PC Patient Support Meeting in Dundee. That's the big news for July 2006 and photos, video and meeting reports will be posted as soon as possible on this website and on the special patient site as well.

June

Still Learning about PC

1 June 2006

As we prepare for the upcoming patient meeting in Dundee Scotland, I am reminded that even though I’ve lived my whole life with PC, my understanding of PC has increased immensely just from meeting others with PC.

At the patient meeting in Kansas City, Missouri in 2004, I met 10 others with PC who had nails and feet that looked very different from mine. I wondered why some calluses looked so much worse than mine and why some looked so much better. I wondered why some could walk so seemingly painlessly, while others hurt much, much more. I wondered how much care and treatment played into those differences.

One person with PC had beautiful flat fingernails. They were a tiny bit raised, but for the most part, they were flat. The top smooth part also extended the length of any normal nail! (On my nails, the top part extends only half way across the nail bed and my nails are raised quite a lot.)

I asked this PCer many questions about how he cared for his nails. I was amazed that he had PC and could still have such terrific looking nails. He kindly showed me the tools he used to trim with, how he filed, in which direction, and how often and on and on. As much as I wanted to know, he graciously shared and explained to me. There were others with me who thought that if I took the time to file and trim in such a way, in time, my nails could look as flat as his. There was a sense that if you filed a certain way, you could get nails to grow a certain way.

Honestly, I wasn’t sure. For one, I wasn’t sure it would be worth the time and trouble to do all that filing. But I was very interested for my two young sons. I wondered if I could trim and file their nails at this young age, if such a change could occur for them and they could have more normal looking nails.

It wasn’t long after that that we discovered that no amount of trimming or filing would ever change my nails to look like this other person with PC. He had a different mutation from mine. And even if he had the same mutation, we all have other modifying genes that also affect the symptoms of PC. I’ve learned that everything about PC can be very different from patient to patient – from the way the feet look, the hands, skin, tongue, everything. We've found there are at least three distinct 'types' of PC nails and care doesn't change this 'type.' We learn more about PC every day through the patient participation.

From that patient meeting, and the others I’ve been to since, I’ve learned that I can’t determine the amount of pain a person experiences just from looking at their feet and judging from the amount of calluses and blisters. I’ve seen that a person with very few calluses may walk with more pain that another person whose feet are covered with calluses. There are just too many factors involved. I’ve also learned that people who have PC and can walk nearly painlessly can still suffer terrible pain from cysts.

I’ve learned that the way I deal with PC is different from many others with PC. And my way isn’t necessarily the best way. And even if my way is the best for me, I’d better not be thinking it’s the best way for another person. On the other hand, I’ve learned about some tricks and treatments, socks, shoes and insoles, and other ways of coping that I’d never thought about before that are now helping my boys and me. Probably most importantly, I’ve learned that PCers are a strong, resilient bunch of people, who’ve figured out that life is what you make it. I’ve learned with PC you can be a successful student, attorney, businessman/woman, computer programmer, journalist, manager, mother, father, wife, or husband. And the list goes on.

My thinking about PC – and my knowledge about PC – has changed tremendously since that time two years ago when I thought perhaps I could change the direction my nails grow. And I thank the marvelous others with PC who have come to these meetings and helped me in the learning process.

I can hardly wait until the patient meeting next month in Dundee. Once again, I expect I will learn many more things – not just about my PC, but also about me as a person.

May

International Pachyonychia Congenita Consortium (IPCC) Symposium

1 May 2006

Last week, I was privileged to sit in on the two-day International Pachyonychia Congentia Consortium (IPCC) Symposium held in Philadelphia. The meeting was held prior to the annual meeting of the Society of Investigative Dermatology (SID) as an associate meeting of that large gathering.

Because this is a scientist only meeting, let me give you a glimpse of how our IPCC meetings work. I tell you because I think it is a unique way that our group collaborates and gets things done.

About 35 scientists and doctors participated in the IPCC meeting. The scientists sit at tables that are set up in a U-shape with the top of U the front of the room where there is a screen and a podium for giving presentations. The room is set up that way because as important as the presentations are, even more important are the discussions among scientists after each presentation or group of presentations. Most of the presentations at this last meeting were based on PC research that was done in the past year or on new science that can have applications to PC research.

As a group, these brilliant minds team up to help one another. They listen and observe, then give insights and suggestions - all for the purpose of finding specific ways to cross the next bridge, overcome current obstacles, or chose the next steps in the quest for reaching a treatment or cure for PC. The title of this year's meeting was "Envision Success: PC Clinical Trials" and the disscussions focused on selecting the most effective strategies to reach clinical trials as soon as possible.

Sometimes the group decides one direction isn’t as effective as another. The discussion is open and honest. In that setting they brainstorm and make choices on what research avenues are the most viable and effective. They choose a course of action for the next steps on other projects. If one lab is doing something, another lab will offer resources or volunteer help or means to move the process along. The collaboration is unbelievable.

And in case you wonder where I am in all this, Mary and I sit at a table in the back, not in the main group. We are not scientists. We listen, learn, take notes, and say our prayers of thanks. And thankful we are. At one point in this two-day meeting of presentations and collaborative discussion, I sat there, simply overwhelmed that these incredible scientists and doctors from around the world were there, talking and planning about MY rare disease. One example is I saw actual photographs of PC inhibitors working in mice. The photos were taken within just the past weeks. If that’s not enough to make a person overcome with gratitude after a life of no hope, I don’t know what is!

On the second day, a question was asked of the group by a researcher who hadn’t been to a previous meeting how many people had PC. Another doctor, who was also participating for the first time responded something to the effect of, “From the looks of this gathering here, you would think one in 60 people had PC!” (Of course in this group 1 in 60 did have PC!) However, this exchange made me realize – though I knew it before – how absolutely incredible it is that not only were these scientists interested in PC research, but the caliber, the expertise of these individuals is unprecedented. They are the world leaders in keratin research! The way they have bonded together and come on board with us at PC Project is simply remarkable, if not miraculous. The core researchers have been with us from the first meeting in Park City just over two years ago. Others have joined the group at just the time we needed their specific expertise. Others have come to bring new ideas and contribute advice and suggestions gained in other areas.

In the week since this IPCC meeting, there’s already been a flurry of activity among the scientists that has come as a direct result of the meeting. At least a dozen collaborations (one lab doing staining needed by another lab, one lab sending cells for another lab to use in an experiment, etc.) We believe everyone left the IPCC meeting motivated – or STILL motivated is probably more accurate – in helping the PC cause.

We are working to post a report of the scientific presentations related to PC that were presented at the main SID meetings so you can see all that has been accomplished for PC and you can see the details. But one thing to note right now is that some of the cutting edge science that is being done for PC was mentioned by the keynote speech at the beginning of the SID meeting given to thousands of dematological researchers. It’s real science and exciting science as well.

March

Burning Feet

1 March 2006

Lately my 11-year old son has been waking up every night because his feet are “burning.” He has all the sores and calluses that I do and they look like they always have with no extra infections - so what’s wrong? What’s making his feet hurt so badly right now? When he wakes me up to tell me about the pain, I take notice of my own feet. I notice they are “burning” too. Even while I sit here typing, I feel the burning. But am I just so used to it that it’s no longer a big issue for me?

I remember once as a young adult my feet hurting extra badly for no apparent reason. I made an appointment to see a dermatologist who knew me well - and my PC symptoms. When he saw my feet he said he expected them to look a lot worse than they did. I remember feeling a bit badly about that. How bad do my feet have to look for someone to believe the pain is severe?

As for my son, is he now just coming into a stage of PC where he will begin to feel pain almost always? Will he get used to it? I have PC yet I still feel so helpless. There are some things I can do to help my boy feel a degree of pain relief, but for the most part, I fear he will feel this constant pain for the long haul – at least until the cure comes…

February

Discovering PC Project

1 February 2006

Today I spoke on the phone with a man with PC who found us through this website. When I first said hello, the man was overcome with emotion. He could hardly believe he was speaking with another person with PC. And even more so, he was moved that finally, something is being done for people with PC – a website, a support system, and above all, research.

This incident is not an isolated one. It’s almost a repeat of nearly every call I’ve had with people who discovered PC Project for the first time. I’ve also been to patient meetings where people meet for the first time and burst into tears. There’s so much emotion involved for all of us after spending so much of our lives feeling all alone in dealing with PC.

Now that I’ve been meeting with people with PC for over two years since the Project began, I have to look back and remember how emotional it was for me the first time I talked with someone with PC. What a thrill it was for me to actually talk with someone over the phone, through the internet, and then finally meet another person with PC.

I will say this, though – having met and contacted so many PCers has not diminished in any way the thrill and excitement I feel EVERY time a new person with PC finds us. It’s as exciting as the very first person ever to email in to PC Project. When Mary and I saw that email, we got so excited that PCers were out there, looking anxiously for some hope, looking for a PC Project! It’s made us both realize how very important this Project is – to me – and to all PCers.

Today, when I talked with this man, I was inspired and edified by him. I hung up the phone smiling and on a high. It was like Christmas day -- and lives changing other lives as we all benefit from each other, is the best gift of all.

January

Happy New Year 2006

1 January 2006

And happy it is! With plans already set in motion, this year appears even more promising and more wonderful than last year – if that is possible.

Included in the 2006 plans are another patient meeting in Scotland, several important scientific gatherings for PC researchers, and probably most importantly, all the behind the scenes research that is occurring in labs around the world. If last year’s history is any indication, PC Project will continue to move forward at breakneck speed. I still need reality checks to comprehend this is really happening.

Amidst it all, my heart is warmed by the goodness of so many people. Mary’s sister in Florida sent 100 PC brochures to people she knows and many sent in contributions of $5, $10, $50, and $100. I wrote an email to my immediate family, telling them how to shop through the website to help us raise funds. In turn, my sister-in-law emailed my letter to many people she knows. I know many of you have told your friends about the shopping portal on our PC site. Suzanne, a PCer in England, has now set up similar fundraising shopping opportunities in Europe. PCers in France are setting up their own local support network to help with translations and fundraising efforts. Other PCers are looking out all the time for new products, shoes, creams, etc. and reporting back on their effectiveness. I could go on and on. Others are contributing in monetary ways – and no matter how big or small, not only does every cent go directly to research, it ensures our status as a charity.

In addition, the release of the PC-specific JID publication has put “pachyonychia congenita” on the brains of dermatologists and scientists worldwide. Now, when a new PC patient goes to a doctor for help, there is a definitive resource to turn to for help. And just yesterday, a researcher emailed me to ask if he could use a photo to use in a presentation at a medical research conference to promote the PC cause and encourage researchers to check out our website. I could share many more examples of helping individuals in the medical and scientific world. PC is definitely getting “on the research map.”

And so, on my wish list for 2006 is the hope that as many people as possible around the world can “find” PC Project. I know there are many more PCers out there but language and different situations are surely barriers. And, I hope that each one will participate in the research registry – especially so they can be genetically tested to know their exact mutations. When I think of the progress of the research, I don't want any PCer left 'undiscovered.' But all in good time… Besides, look where we were two years ago and look at us now. Inconceivable – except that’s it’s all really true! Welcome 2006!

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