News Brief

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News Brief
FUNDRAISING BIKE JOURNEY

August 2012 Vol, 7 No 4

NEW VIDEO ON PC A new 5 minute video presentation was shown at the golf luncheon. Watch for this! It will soon be posted on You Tube and the PC website and is available for use by public television stations.

tance can apply for scholarship funding to help with meeting fees and/or travel costs for the PSM closest to your home country. (The meeting fees are set at $0 for all first time attendees.) SANTA CRUZ, CALIFORNIA JUNE 20-22 Mark your calendar now. The registration site will be posted soon and scholarship funding will available as outlined for the Edinburgh meeting. BACK TO SCHOOL Help Your Child Have a Great Year! Are you helping your child get ready to go back to school? If so, you know the excitement of starting new classes and meeting new teachers. If you have a child with PC, you may have concerns about special challenges they may face at at school.

PC PATIENTS GIVE SKIN BIOPSIES FOR PC RESEARCH We appreciate so much eight Ted Lacki set out on August 14 for patients in Utah and Colorado who a bike journey from Seattle, WA recently donated biopsies from down the California coast. affected plantar skin, unaffected Enjoy Ted s blog at plantar skin and/or a hip area. A http://tlacki.posterous.com/. huge THANK YOU to each of these PCers. Check out Teds fundraiser site at http://www.crowdrise.com/ The cells will be used in projects tedscause. Good news! someat Johns Hopkins, University of body's already donated! We hope Colorado, TransDerm and other you will donate, too, and cheer collaborating universities and inTed along the way. Ted welcomes clude a study on PC nerves and other PCers who may want to bike pain, microarray analysis to deterwith him along the route. mine related genes as targets for (NOTE: Were posting these links PC treatments, stem cell research on the PC website as well). and other research needs. 2ND ANNUAL PC CHARITY GOLF TOURNAMENT HELD JULY 18 Very early on a beautiful Saturday morning, volunteers and staff from PC Project were ready at Crater Lakes Golf Course in Midway, Utah for the 2nd Annual tournament for Pachyonychia Congenita. Last year there were 88 golfers and 6 sponsors. This year there were nearly 25 sponsors and 139 golfers! We hope over $10,000 will be raised and proceeds will be matched $2-for-$1 for research.

Here are some ideas on things you could do to help your child manage his or her school We urgently need donors who have the K6a-N172del mutation. experience: Please contact PC Project if you are interested in donating a biopsy. If your child is very young, we recommend you write a letter to your childs teacher and PATIENT SUPPORT MEETINGS anyone else who interacts with EDINBURGH OCTOBER 28-30 your child at school the PE Please register now for the meetteacher, school nurse, librarian, ing and book your hotel (you dont bus driver, etc. that includes need to pay anything now but these following points: we need to know you are coming to plan a great program!) You pay An explanation of your childs condition and how it the hotel only when you check in. could impact his or her classAll PCers who need funding assisroom experience. Accommo-

2386 East Heritage Way, Ste B, Salt Lake City, UT 84109 www.pachyonychia.org Phone 877-628-7300 Email: [email protected]

Page 2 dations that may be needed during the school day. What they might do be helpful for your child.
How the childs learning may

PC News Brief

August 2012 Vol 7, No 3

be affected and how the teacher can help (such as a plan for catching your child up if excessive absences, etc.)
In addition to the letter have

ports and railroad terminals, going through security screening, making the needed adaptations to take care of your skin while traveling, and other stresses you have encountered. We would love to hear from you and share your tips on successful strategies you have devised in meeting the demands of modern day travel and having PC. Email to [email protected] and we will share tips in this newsletter and on our web site. Meanwhile, be aware that the Transportation Security Administration (TSA) has a new toll-free hotline, 855-787-2227, to provide information for passengers with disabilities and medical conditions and their families before they fly. They recommend calling 72 hours in advance to learn what to expect at security checkpoints. They will also be able to coordinate your security screening ahead of time when they know about your disability. This is a great resource. You can plan in advance and know exactly what to expect at specific airports. WHAT YOU ARE ASKING ABOUT! Does PC Lessen or Worsen Over Generations? We are frequently asked if the severity of PC changes from generation to generation. How PC is expressed between generations cannot be predicted. PC does not lessen or worsen over generations. Even within the same generation, individual experience with PC will vary because there are other genes and factors that make each per-

sons condition unique to them. There are a lot of factors that cause your PC to present differently even when the PC mutation is the same. RARE DISEASE LEGISLATION The U.S. Food and Drug Administration (FDA) Safety and Innovation Act of 2012 recently became law. This includes the most groundbreaking measures for rare disease patients and their families since the Orphan Drug Act of 1983. This legislation passed with bipartisan support in both the House and Senate. The FDA Commissioner, Margaret Hamburg, MD, told Congress that the FDA was committed to greater support of the rare disease program and closer collaboration with all those affected by rare disease research. The Act will provide more than $6 billion in industry user fees to the FDA over the next five years to fund a share of the agency's review of drugs and medical devices for rare diseases. For rare disease patients, including pachyonychia congenita (PC) patients, this legislation includes provisions of critical importance. For example, the dissolvable microneedles (a device) and an improved siRNA for PC (a drug) will be reviewed at the FDA under this new law. More details on the legislation are available at www.fda.gov. These provisions come as a result of years of advocacy, education and relationship-building by a coalition of rare disease patient organizations, including PC Project.

all the people who interact with your child, establish one person at school who is responsible for your child and create an emergency protocol for this person.

If your child is older, discuss with your child how he or she would like to approach the situation, what they perceive as their needs, or if he or she wants help from you in educating others. You might suggest to your child about their educating their classmates through a classroom presentation.

For a sample letter and other back to school tips, check out a how-to guide produced by the Genetic Alliance called Students Living with a Genetic Condition: A Guide for Parents. Download a copy at www.geneticalliance.org. PC Project will also supply a letter if needed. You can also download a brochure providing the basics on PC at www.pachyonychia.org or contact us for one or more copies by mail. WHAT WORKS WELL FOR YOU WHEN TRAVELLING? Many PCers tell us how challenging traveling can be with PC. We know many of you are pretty creative in meeting the demands of walking the large spaces in air-

2386 East Heritage Way, Ste B, Salt Lake City, UT 84109 www.pachyonychia.org Phone 877-628-7300 Email: [email protected]