News Articles

Welcome to the PXE News Articles section. Here you'll find stories about pseudoxanthoma elasticum and the men, women and children whose lives are affected by it.

October 23, 2017
PXE International to raise funds through dare to be raRe

June 13, 2016
Kim Douglas PXE Awareness Card
Kim Douglas is a PXEer with a bright idea on how to raise awareness about PXE. Check out her PXE Awareness card.

September 8, 2015
Delta Blues
"I think I’m a savvy traveler in spite of my visual limitations, until a turbulent trip through the Vancouver airport makes me rethink …". Read Delta Blues by Jessica Harper.

September 5, 2015
Al Ditheridge - Man vs Mountain
Since his son Chad's diagnosis of PXE in the summer of 2013, Al has been entering various physical challenges to raise awareness and funds for pseudoxanthoma elasticum research. His latest grand accomplishment - the gruelling 20-mile Man vs Mountain Challenge! See the photo story.

June 30, 2014
Feeling Like a Useless Parent
"My son Chad's PXE diagnosis left me feeling pretty useless as a parent. I'm quite a practical problem solver, hands-on sort of fixer. Suddenly, our son is faced with something that I have no tools to fix! I felt I really did need to do something that at least might help give someone else the tools to help fix Chad! That's when I hatched my plan. I decided to attempt at least one physical, endurance event a month for a minimum of one year to help raise awareness and funds for PXE International." - Al Ditheridge<

June 30, 2014
A Tale of the Trial - Pseudoxanthoma elasticum, magnesium, and me
Let Your Voice Be Heard - Stories from participants in the magnesium clinical trial
"What began for me with the feeling that my participation is respected and appreciated has blossomed into a certainty that I am involved in something important, that I am a significant part of a team that has the potential to benefit others, and that I, myself, am learning and growing through what is likely to be, for me, a once in a lifetime experience." - Jessie Gower

June 30, 2014
Adventure of Hope
Let Your Voice Be Heard - Stories from participants in the magnesium clinical trial
"To be a part of this process, even if it is an early step in what the future treatment may evolve into, is an honor for me." - Mary Ann Thaman

June 30, 2014
Scientific - and Magical!
Let Your Voice Be Heard - Stories from participants in the magnesium clinical trial
"If the clinical trial were a "thing", it would be rainbow. It has scientific basis, but it is still magical ... and maybe there really IS a pot of gold at the end!." - JoAnn Defrancesco

June 30, 2014
A Rewarding Experience
Let Your Voice Be Heard - Stories from participants in the magnesium clinical trial
"Because it has received such little attention for most of my life, I feel this research opportunity is a duty of mine, to volunteer myself for the knowledge and betterment of others, which this research can bring. Also, as a scientist in my professional career, I understand how important research and clinical trials like these are. If each individual viewed this opportunity as something not worth pursuing, progress for a treatment for PXE would never be made ... I couldn’t be happier with my decision." - Chris Rumer

June 30, 2014
PXE and Art - Wendy Bateson
"Keeping busy keeps you from thinking about your problems and keeps you working on your future, which is a real positive", says Wendy. Wendy has combined her love of photography with her love of food in her latest business venture - Foodie Fashion. Check her out on PXE and Art.

June 30, 2014
PXE and Art - Kayla Costin
"When life gives you a hundred reasons to cry, show life that you have a thousand reasons to smile!", says Kayla. Check out her beautiful photography.

June 30, 2014
Remembering PXEer Al Ferrari
Al was one of the first people diagnosed with pseudoxanthoma elasticum by Dr. Kenneth Neldner, who was one of the first researchers to do extensive research on PXE. He was also Co-founder and former President of the National Association of Pseudoxanthoma Elasticum (NAPE). Al's daughter, Angela Ferrari, shares Al's early PXE history.

June 30, 2014
PXEer Stacy Duppong writes her story for Inspired Woman magazine
Surviving Pseudoxanthoma Elasticum (Inspired Woman, April/May 2014)
"Earlier this year I was asked to tell my story of PXE in our local magazine called Inspired Woman. I was so excited to do this because awareness means so much to me ... I don't want PXE to run my life, I want to be the one in control." 

March 11, 2014
PXE International to be part of the National Patient-Centered Research Network through Genetic Alliance and PCORI
PXE International and nine other disease advocacy organizations, supporting conditions from rare to common, were competitively selected by Genetic Alliance to participate in the pilot of CENA, a health data network that will be part of the National Patient-Centered Clinical Research Network through Genetic Alliance. 

March 11, 2014
Andy Cremer shares his PXE story for Rare Disease Day 2014
"I generally feel lucky that my PXE was discovered so that I can manage it, but having a rare disease is tremendously isolating at time, which is why I am supporting Rare Disease Day." 

November 4, 2013
NEI Audacious Goal chosen
Regenerate neurons and neural connections in the eye and visual system
After more than a year of gathering ideas and connecting with experts from all over the world, the National Eye Institute (NEI) announced in May its Audacious Goal in vision research and blindness rehabilitation that will drive vision science for the next decade. 

September 23, 2013
The Common Thread
Kirk Waters will amaze you with all that he has accomplished in his relationships and his career since going legally blind due to PXE. His optimistic outlook and his passion for life will inspire you whether you are someone with PXE going through your own health journey or someone who loves a PXEer. The Common Thread is a not-to-be missed article about the courage to continue on even when life isn’t being kind.

July 29, 2013
Update on Gene Patenting in the USA
PXE International stewards the ABCC6 gene patent. What will change as a result of the Myriad ruling?
In June 2013, the Supreme Court of the United States (SCOTUS) passed down this ruling in the case of Association for Molecular Pathology et al. v. Myriad Genetics, Inc. et al.: "We hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated, but that cDNA is patent eligible because it is not naturally occurring." 

July 18, 2013
Standing Ovation
Linda Falconiero is a PXEer with low vision. She’s also a member of her church choir. After her vision loss, she made several creative adaptations to keep her singing. Then she got the opportunity to sing two new works with a larger group, with an orchestra, in Latin and in NYC’s Lincoln Center. This huge change from her usual experience would present an equally huge challenge. Was she just dreaming or could she pull this off? In “Standing Ovation,” she answers this question and reports on her wonderful experience.

June 28, 2013
Curling - Tammy's Way
Learn how Tammy Gibson, a Kingston, Ontario resident, became involved with her low-vision curling team. As a newcomer to the sport in 2012, Tammy participated and won the most points for her team in this past season’s Canadian Council for the Blind (CCB) curling bonspiel. Read about her inspiring story and how this sport, which requires balance, feel and strategy, can be played at any age as well as with a vision disability.

May 4, 2013
Making History of PXE: Elizabeth Terry's Experience of the PXE Clinical Trial
When I first heard that the PXE community was finally getting the chance to become part of a clinical trial, it just brought me back to the first time I ever heard the words Psuedoxanthoma Elasticum. I was 5 years old and I didn’t understand what it all meant but I knew it was a moment. A moment that changed everything. This trial is another moment. It may just feel like a pill every day but it’s progress, it’s history in the making, it’s making history of this disease.

May 1, 2013
PXE International - Trailblazing for a Cure, by Erica Rascon, Yardi Systems' The Balance Sheet
Check out this article on PXE International - a good link to share with your friends and relatives - to describe what we are doing, and how to donate to us. Our good friends at Yardi Systems give us a substantial annual grant every year, and they featured us in their blog.

Spring, 2013
Research Gems, by Courtney Humphries,
The Benefits of Biobanks: Vast stores of tissue, immense resources to understand disease, but yet the attitude: "a ship of consensus sailing on a sea of dissent." Sharon Terry and board member Joe Maas, among others, are interviewed for this article. 

April 30, 2013
IRDiRC meeting in Dublin April 16 & 17 seeks 200 treatments for rare diseases by 2020
The International Rare Diseases Research Consortium (IRDiRC) was launched April 2011 at the initiative of the National Institutes of Health (NIH) and the European Commission to foster international collaboration in rare disease research. From the start, Sharon Terry, CEO of Genetic Alliance and PXE International, has been a part of the planning and is now a member of the Executive Committee.  The overarching goals of the IRDiRC are to make possible the diagnosis of as many rare diseases as possible and to develop 200 new rare disease treatments by 2020. 

April 30, 2013
Audacious Goals Initiative - NEI holds historic "do-it-yourself" development meeting
In August 2012, the National Eye Institute (NEI) offered $3,000 awards to as many as 20 contestants who submitted the most compelling one-page ideas to advance vision science. Of 476 entries submitted to the Challenge to Identify Audacious Goals in Vision Research and Blindness Rehabilitation, 10 winning contestants were invited to present, discuss, and refine their ideas at the NEI Audacious Goals Development Meeting, February 24-26, 2013, in Potomac, MD. Read about the meeting.

April 3, 2013
Hurdles to Successful Fundraising, and How to Jump Them
It’s probably true that you don’t want to be that person who is always asking for donations. But as one wise man put it, “You don’t ask, you don’t get!” You might be surprised how many people out there are willing to lend a hand. "Hurdles to Successful Fundraising" presents a few common objections to and many creative suggestions for fundraising for PXE International. Won't you try one, and help raise needed funds for important PXE research?

March 28, 2013
Plans underway to expand access to federally-funded research results
Thanks to all of you who made the effort! As a direct result of the thousands of people who signed the May 2012 "We the People" petition to require free access over the Internet to scientific journal articles arising from taxpayer-funded research, Dr. John Holdren, Director of the Office of Science and Technology Policy has directed Federal agencies with more than $100 million in research and development expenditures to develop plans to do just that. Read the official response.

March 28, 2013
Audiobook Services: Something for Everyone
Never has there been such easy access to books for both visually impaired and sighted readers. Today's technology offers a wealth of books that can be accessed with the click of a mouse and the time it takes to download them from the Internet. Many services are free, while books can be downloaded from the leading commercial site at costs comparable to their hardcover counterparts. “Audiobook Services: Something for Everyone” describes those services available to the visually impaired for obtaining audiobooks as well as commercial services available to all readers. 

March 28, 2013
Old Passions, New Goals: Figure Skating Success
When PXEer Kerry Wilson finally put away her roller skates after 16 years as a figure skater, she didn’t realize that her life’s journey would lead her right back to the roller rink. After retiring the skates at the age of 21, Wilson went on to have a beautiful family and career. When vision loss from PXE forced her to quit her job, and her health became a concern, Wilson had to find a way to get healthy and retake control of her life. Read about her return to skating! 

January 30, 2013
Sharon Terry, Jouni Uitto and All Rare Disease Heroes honored at 30th anniversary of ODA
Rare disease heroes honored at FDA's celebration of the 30th anniversary of the passing of the Orphan Drug Act.

January 30, 2013
Yardi Systems awards PXE International grant of $25,000
PXE International is once again grateful to Yardi System for a generous one-year grant of $25,000. Yardi funding is used to conduct important PXE research such as define and validate a biomarker for PXE as well as recruit, educate and support individuals participating in the magnesium supplement clinical trial .

January 30, 2013
PXE International Research Coordinator, Abbie Moore, Named Genetic Alliance Registry and BioBank Manager
PXE International board and staff congratulate Abbie Moore on her recent appointment as Manager of the Genetic Alliance Registry and BioBank (GARB).

December 20, 2012
The Test Walk - Partnering with a Guide Dog
When people are considering whether or not to partner with a guide dog to further their independent travel, they often wonder just what walking with a dog will feel like. What can the dog really do? At PXE International's Biennial Conference in September, Kent and Jenine Stanley provide Linda the opportunity to find out for herself.

December 20, 2012
Four Paws Test Drive - Learning to See Guide Dogs Differently
"I'd been admiring, petting, and chatting with two furry fellows, guide dogs who came to the PXE International Biennial Conference in September with their owners, Kent, a fellow PXEer, and Jenine Stanley. Jenine is Consumer Relations Coordinator for the Guide Dog Foundation for the Blind in Smithtown, New York. After about my sixth visit to their exhibit, Kent asked me if I would like to take a 'test drive'."

November 30, 2012
Passing the Torch - Terry Mac Dermaid Named Executive Director
Just over two years ago Elizabeth Terry, daughter of PXE International founders Pat and Sharon Terry, took the reigns of PXE International as Executive Director with a two-year commitment to raise the foundation to a new level - and she has done just that! Now Elizabeth is passing the torch to Terry Mac Dermaid, who has been PXE International's Assistant Director for over four years.

November 30, 2012
Caring for Pets - a Special Privilege
PXEer Terry Bates opens Tiny Bubbles Pet Grooming in Waterford, Michigan - Though Terry Bates may be visually impaired, this doesn't inhibit her vision as a business owner and animal lover. Fighting a difficulty battle with her eyesight has made the journey a challenge, but with the proper support and a lot of courage, Terry is once again a successful business owner.

October 18, 2012
British MP Nick de Bois holds adjournment debate on government support for PXE
British Member of Parliament Nick de Bois joins PXE International’s facebook page in quest to raise awareness of PXE.

August 13, 2012
Small Changes Can Lead to Big Results: How One PXEer Fit Getting Healthy into a Tight Schedule
Getting healthy doesn't have to start with running a marathon. The smallest changes can start you off. By letting that momentum build slowly, the results may come more quickly than you expect.

July 13, 2012
Fighting through the Challenges of Getting Healthy: An Interview with Kim Griffiths
"The only thing we have to combat this disease is our health", says Kim Griffiths. While research runs its course, one of the most productive ways to contend with PXE is to be healthy and active.

July 10, 2012
The Therapy of Helping Others: Adventures in El Salvador
Linda Falconiero's battle with PXE and vision loss doesn't stop her from changing the world.

June 1, 2012
Tandem Bike Adventure on New Zealand's Otago Central Rail Trail
PXEer Dave Parker trains for and enjoys a three-day tandem bike adventure on New Zealand's decommissioned rail trail.

May 23, 2012
European PXE Meeting a Success!
40 attendees from 10 countries learned about the ABCC6 substrate and why PXE researchers are searching for it.

May 23, 2012
Help Expand Access to Federally Funded Research Results
Our goal is to accelerate pseudoxanthoma elasticum [PXE] research, but sometimes we can't even get the latest research results at all or it is too expensive – you can change this now!

December 3, 2011
PXE in the Wall Street Journal
Citizen Scientists - A growing movement to unlock medical secrets by empowering patients to gather, control and even analyze their own health data.

November 18, 2011
Sit and Quit? Or Fight It!
The story of a fellow PXEer with vision loss who is determined to enjoy her life.

October 2, 2011
PXE International Regional Meeting in London, England
Elizabeth Terry and around 30 PXEers and their families got together to discuss and share their experiences in the ongoing pursuit of wellness and to enhance the reach of the support structure PXE International represents.

August 1, 2011
PXEer Kate Williams' Journey
When Kate Williams was diagnosed with PXE at age 18, her doctors didn’t know what to tell her. Focused primarily on cardiac issues, they never warned her that her eyesight might be affected.

April 22, 2011
High Energy at the Australia Regional Meeting
For more than two and a half hours the group of 12 discussed the ins and outs of PXE.

April 1, 2011
PXE and Art Spotlight: Kerry Wilson
Kerry's PXE diagnosis helped her discover her passion for pottery.

April 1, 2011
Regional Meetings are a Wonderful Opportunity
Living with a rare disease can be an isolating experience. Many PXEers may never have encountered anyone else with their disease. For these people, their loved ones, and other members of the community, PXE regional meetings are incredible opportunities to connect with affected individuals in their area and get answers.

March 18, 2011
PXE International Regional Meeting Convenes in Vancouver, Canada
A small group of affected individuals gathered for a fun and informative evening.

February 24, 2011
First PXE Regional Meeting of 2011 a Great Success
For many PXEers, this was the first time they had met another person with PXE.

February 16, 2011
In Memory of Diane Rohrmann
While she struggled mightily with mobility issues and diminished vision due to PXE, she rarely complained, always looking to the future.

November 9, 2010
Elizabeth Terry Takes the Reins - Becomes PXE International's Second Executive Director
Text of acceptance speech delivered at the 15th Anniversary Gala and Conference, September 10, 2010.

October 7, 2010
The ABCC6 (MRP6) Gene and Gene Patenting
PXE International, a non-profit research foundation, is the owner of the intellectual property rights in the form of multiple worldwide patents issued for the diagnostic and therapeutic use of the gene associated with PXE, ABCC6. What does being the patent holder mean?

May 14, 2010
Desperately Seeking Cures
From Newsweek, why don't more more medical discoveries become cures?

May 13, 2010
Remembering Beverly Foster, A Great Friend of PXE International
A dear and founding supporter of PXE International, Beverly (Fulton) Foster of Needham, MA, died on February 3, 2010.  Beverly Foster helped to birth PXE International and her beautiful spirit continues to remind us of what it means to be generous and hospitable.

May 11, 2010
UK's National Health Service Looking into Avastin As Treatment for Wet AMD
Recent reports from BBC News and the UK's Telegraph regarding Avastin as treatment for wet AMD.

March 19, 2010
PXE International Executive Director Elected a Fellow of the Ashoka Foundation
WASHINGTON, DC – Sharon Terry, executive director of PXE International and president and chief executive officer of Genetic Alliance, was just announced as an Ashoka Fellow, a distinguished lifelong position attained only after a rigorous selection process. Ashoka is the largest association of leading social entrepreneurs in the world that strives to enable the world´s citizens to think and act as changemakers.

February 6, 2010
No PXE After All, But Kudos for PXE International
After his wife Debbie was initially diagnosed with PXE, Dan contacted PXE International to learn more. With PXE International´s help, he was able to determine that she doesn´t have PXE and to get her less serious condition correctly diagnosed. Dan now wishes to share his experience with the PXE community. All names here have been changed to protect privacy. 

November 2009
Embrace the Change
A letter of encouragement from Jan Nesset, a PXEer from Canada, to his fellow PXEers

November 6, 2009
Disruptive Women in Health Care:  November Man of the Month - Patrick F. Terry
In November, the Disruptive Women in Health Care blog welcomed PXE International´s co-founder and President Patrick F. Terry, a self-proclaimed “JAD” (Just a Dad), as their Man of the Month.

August 6, 2009
Arizona Department of Economic Security: A Resource for Low Vision Tools
PXEer Charlie Harper's story of how he overcame reluctance and suspicion to ask for low vision assistance from the Arizona Department of Economic Security.  He's really glad that he did.  Learn how he got Department-supplied low vision aids as well as counseling and instruction.

September 9, 2008
High Technology for Low Vision
Low vision doesn't have to mean darkness and dependence.

June 25, 2008
Downi Creations
PXEer Donna Moore, a former special needs teacher who became close to Tim, a young boy with Down's, became disabled herself when a rare eye disease, pseudoxanthoma elasticum, rendered her legally blind with no central vision.  Unable to continue in her career, she says she felt a "God-sent" drive to create a Down's doll.

April 2008
One Woman's Journey
JoAnn Defrancesco adapts to becoming legally blind from the devastating effects of PXE.

November 1, 2007
PXE International Develops Genetic Test for PXE
After almost eight years of work, PXE International brings you the genetic test for PXE!  Partnering with GeneDx, a laboratory in Gaithersburg, MD, we are delighted that we are able to finally offer this test. 

Fall 2007
Give Sorrow Words
"I took it literally and I gave all my sorrow words. I cried. I laughed. I sighed sighs too deep for words...And when it was done, when I had come back here to Sedona, I slept a deep sleep. And I could feel the weight of this thing go. I could wake up again, not every day, but on some days as if I had wings on my soul."

May 19, 2007
Sharon Terry receives award for patient service at the University of North Carolina at Chapel Hill
On May 19, Sharon Terry, MA, president and CEO of Genetic Alliance, was honored with the Institute for Pharmacogenomics and Individualized Therapy (IPIT) at the University of North Carolina at Chapel Hill Award for Patient Service. This award is given to an individual who has made significant contributions to empowering patients and who champions a focus on the patient in the advancement of individualized therapy. 

February 1, 2007
Advocacy Groups as Research Organizations: the PXE International Example
Advocacy organizations for genetic diseases are increasingly becoming involved in biomedical research, particularly translational research, in order to meet the needs of the individuals that they serve. PXE International, an advocacy organization for the disease pseudoxanthoma elasticum, provides an example of how research can be accelerated by these groups. It has adopted methods that were pioneered by other advocacy organizations, and has integrated these along with new approaches into franchizable elements. The model has been followed for other conditions and has led to the establishment of a common infrastructure to enable advocacy groups to initiate, conduct and accelerate research.

June 28, 2006
'Bon Bon Bellevue' Tackles Rare Disease
"Bellevue United Methodist Church will be filled with the sweet scent of desserts tomorrow night, but the event is not all sugarcoated."

April 1, 2006
The Advocates
In 1994, Sharon and Patrick Terry's two children were diagnosed with PXE, which is characterized by calcification of elastic fibers in the skin, arteries and retina. PXE affects the cardiovascular system and gastrointestinal tract and is frequently associated with loss of vision owing to macular degeneration. The accomplishments that can be attributed to the Terrys in the wake of this unhappy news are remarkable.

November 15, 2005
PXE International's Sharon Terry Receives Honorary Doctorate
“Iona College of New Rochelle, NY, recognized PXE International Executive Director, Sharon Terry for her outstanding contributions to genetic research and the mission of Iona College with an honorary doctorate on November 13, 2005.”

June 27, 2005
Creative Worker Copes with Disease's Effect on Eyes
“She walks around Paper Moon, amid its shelves filled with rubber stamps and rows of ribbon, with ease.”

June 14, 2005
Point and Shoot Game
“Wende Columbo's friends will say she's good. They'll tell you she's better than them.”

August 24, 2004
U.S. Patent Office Issues First Gene Patent to Patient Advocacy Group
“PXE International, a patient advocacy group representing over 3,000 patients and their families around the world, today announced that they have been awarded a landmark patent by the United States Patent and Trademark Office.”

September/October 2003
Learning Genetics
Finding sparse, uncoordinated research on their children's rare disease, a couple starts their own organization to jumpstart hopes for the future.

November 1, 2001
Who Owns My Disease?
"After their children were diagnosed with a rare inherited disease, Sharon and Patrick Terry set out to find the gene that causes it. In the process, they are redefining the role of patients in the genetics revolution."

September 1, 2001
The Citizen Scientists
United by the Net and emboldened by their numbers, parents of desperately ill children are funneling millions into research, building vast genetic databases, and rewriting the rules of the medical industry.

February 24, 2001
Patient Power
“People with inherited diseases are ready to challenge pro-lifers over the future of medical research.”

October 19, 2000
Tissue Donors Use Their Influence in Deal over Gene Patent Terms
"A genetic disorder is at the heart of what is believed to be a first for the intellectual property world.”

September 15, 2000
Crusade for a Cure - Battle for Gene Control
“At first glance, the Terry family of Massachusetts doesn't seem either formidable or unusual.”

June 2, 2000
UH Discovery May Cut Heart Disease
“Mutations that cause a rare genetic disorder have been discovered by an international research team led by a laboratory at the University of Hawaii.” 

May 8, 1999
McCallister Feasts as Wife Dines
“One would think it would be difficult to maintain focus on something as insignificant as chasing a little white ball around a well-manicured lawn if your wife of eight years had gone blind from a hereditary condition that strikes one in 100,000 people.”

April 6, 1997
Diving in Against a Disease
“When Sharon Terry took her daughter, Elizabeth, to a dermatologist for a slight skin rash on her neck, she expected the doctor to tell her to stop using inexpensive detergent.”

February 28, 1997
Advocacy Begins at Home
“Last year, when Ian Terry was 6 years old, he sauntered into a crowd of doctors at a major medical conference in Boston, handed them a page of information, and asked, “Are you familiar with PXE?"

December 26, 1996
Christmas Tree Sales
"After buying a tree at the EP Lions´ tree sale held to raise money for PXE International, a local family poses for a photo with Santa and the Lions´ mascot."

September 1, 1996
“It was the best of times. It was the worst of times. It was The Petersburg Times, and I couldn't read a doggone word of it.”

July 1, 1996
The Terry Family, Volunteers
“It's not unusual for volunteers to put their heart and soul into Brigham and Woman's Hospital. But Patrick and Sharon Terry -- parents of Elizabeth, 8, and Ian, 6 -- are investing their time and energies in a deeply personal way.”