Genetic Alliance, HRSA & ACMG conducting survey to improve health care access

Genetic Alliance, in collaboration with the American College of Medical Genetics (ACMG) and the Health Resources Services Administration (HRSA), is conducting this survey to assess how individuals with genetic conditions access health care and support. The data will be very helpful in painting a picture of health care experiences of individuals with genetic conditions and their families, and will provide direction for future programmatic efforts with the goal of improving access and health. To be eligible, respondents must have been told by a doctor or other health care provider that they (or their child) have a genetic condition.

If you have any questions about the survey or use of the data, please contact Sharon Romelczyk, Program Manager at sromelczyk@geneticalliance.org. The project has been approved by Genetic Alliance’s Institutional Review Board (IRB) to protect all survey respondents and ensure that all responses will be kept confidential.

Faces of PH: Memorial Edition: Dorothy Olson

“We wanted to start an organization that would be helpful and help a lot of patients. Sitting around the kitchen table those many years ago…you just couldn’t begin to fathom what could possibly come out of this organization.”

-Hear more of Dorothy Olson’s story. Listen to this podcast, recorded at PHA’s Conference in 2012.

Dorothy’s Victory: Remembering Dorothy Olson, One of PHA’s Founders

from L-R: Judy Simpson, Dorothy Olson, Pat Paton and Teresa Knazik














Dorothy Olson, a PHA founder, passed May 18 at age 88 after a long life devoted to helping other PH patients. The following tribute, written by PHA President Rino Aldrighetti, was shared at her memorial service on May 21.

If Dorothy Olson's life could be described in two words, they would be: Dorothy's Victory.
When Dorothy Olson was diagnosed with pulmonary hypertension in 1978, it was 18 years before the first treatment for the disease. It was seven years before completion of research at the National Institutes of Health (NIH) would show that, without treatment, only half of all PH patients would survive to 2.8 years beyond diagnosis. And it was 13 years before Dorothy sat around a kitchen table in Indian Spring, Fla., with Pat Paton, Judy Simpson and Teresa Knazik to found what would become the Pulmonary Hypertension Association.

Dorothy beat the odds, surviving for 35 years after her diagnosis. But she did far more than live a full and complete life to the age of 88. She lived a life that made a difference. She made a difference for thousands and thousands of patients who had the same disease that she did. The difference she made will affect patients for many generations. It is her legacy.

This is her story:

When Dorothy was running through an airport to catch a flight in 1978, she was stopped by two stewardesses who saw that she was ready to collapse. They convinced her to delay her flight until she felt better. Several weeks later, she was admiring a bunting bird through her bedroom window when she collapsed across her bed. She was hospitalized for five weeks with no diagnosis. Then, a young resident suggested it might be a rare illness – pulmonary hypertension – that had been mentioned in passing in one of his classes.

Dorothy had her diagnosis, and she had her mission. She even adopted a new motto: "If it is to be, it must be me."

Dorothy began a lonely and years-long search for other patients. She and Pat Paton, Judy Simpson and Teresa Knazik met around Pat's kitchen table in 1991 – not long after only 187 diagnosed patients had been identified in the U.S. without any treatments to help them.

The women began a photocopied newsletter – Pathlight – and gave it to their doctors, who gave it to patients. Soon they had identified many more patients than the 187 the federal government had located five years earlier. They began and staffed a volunteer telephone helpline to talk to patients whose lives had been turned upside down by a PH diagnosis. 

One day, a young woman called the helpline. She was in the parking lot outside her doctor's office. She was standing there with her father, and both were terrified. Her doctor had just told her that she had PH and that she had six months to two years to live. He gave her a brochure from the organization the four women had founded. The helpline was her lifeline. Dorothy told her she had been living with the disease for 18 years. The woman burst into tears.

The organization Dorothy co-founded grew over the years and she remained active, both on its Board and on its telephone helpline. As Dorothy's vision declined, she told leaders, "I may not be able to see anymore, but I can still dial a phone. Use me."

Today, the organization Dorothy, Pat, Judy and Teresa co-founded is recognized around the world and includes two medical organizations. The disease itself has as many or more treatments than all but two of the 7,000 rare diseases identified in the U.S.

None of that would have happened if Dorothy hadn't begun her search and spent the 35 years from the day of her diagnosis to the day of her death connecting patients and fighting back against the disease that had intruded in her life. That is Dorothy's Victory.

To the pulmonary hypertension community, Dorothy Olson is a hero who will not be forgotten. She lives on in our love and our gratitude.

Give a Caregiver Shout-Out!

The "Caregiver Shout-Out" honors family members and friends in the PH community who provide patients with daily encouragement and support. For a chance to express gratitude to a loved one in Pathlight, tell us about a family member or friend whose support has made a difference in your life.

Medical professionals: PHPN abstract submission deadline extended to June 3

Medical professionals: Need more time to submit an abstract for the PH Professional Network Symposium Poster Hall? The deadline for abstract submission has been extended until June 3, 2013!

Research abstract audiences will be a mixture of new to experienced healthcare professionals working in the field of pulmonary hypertension. While PHA encourages the submission of original abstracts, submissions do not need to be original work. Abstracts also do not need to be fully executed in practice.

Guidelines for specific clinical situations, implementation of a process to improve patient outcomes or innovative use of technology in clinical practice

•     Development or implementation of a performance improvement program
•     Patient safety initiatives
•     Patient satisfaction improvement initiatives
•     Identification and implementation of PH educational needs for healthcare professionals
•     PH nursing orientation programs, role implementation or development of practice guidelines

Topics are subject to the discretion of the Symposium Abstracts Subcommittee and the Pulmonary Hypertension Association. If you have any questions about the appropriateness of your topic, please contact a PHPN abstract mentor by emailing PHPN@PHAssociation.org.

 

Shire is looking for the BRAVEST caregivers in the world

If you know a caregiver who performs in extraordinary ways, who gives their time, support and compassion regularly through caring for someone else in a meaningful, selfless manner, then click below to learn more about the Shire BRAVE Awards.  If they meet the eligibility criteria, nominate them for a 2013 BRAVE Award and they could receive $10,000 USD or their local country currency equivalent from Shire.

PHA Staff Attend NORD 30th Anniversary Gala - Inspired by patient speech

Earlier this week, a number of us at PHA attended the National Organization for Rare Disorders 30th Anniversary Gala and was extremely inspired by a speech delivered by a 22-year-old afflicted with epidermolysis bullosa, a rare and crippling dermatological disorder that affects internal organs.

“Just because we are labeled rare, we are no less than any other person… while we did not choose to have a rare disorder, we can choose to act for change. We can choose to find our own voice amidst the search for effective treatments and expanded access to quality, affordable health care. We accept this challenge as we move on to new frontiers. And as we do this, we will never forget those remarkable leaders who first declared that we were worth it.”    –Megan Barron