https://youtu.be/6BOGwPHpGCA

Statistics about life with an Undiagnosed or Rare Disorder: An Infographic

    Who We Are

    U.R. Our Hope is a registered 501 (c)(3) non-profit organization that assists individuals and their families on their journey to diagnosis,or helps them navigate the healthcare system with a rare diagnosis. Our mission is to serve individuals with undiagnosed and rare disorders through education, advocacy, and support in order to bring hope through knowledge, empowerment, and healing. We assist families in the Austin area, and throughout Texas, the United States and beyond.

    With the medical advancements and technology available to us today, it is hard to believe that anyone could live without a diagnosis, but this is a reality faced by many of our families and countless others across the world. There are currently over 7,000 rare disease and the average journey to diagnosis is SEVEN YEARS!! Many of these disease are rapidly progressing and some individuals cannot afford to wait seven years. Sadly, many children do not live to see their 5th birthday and their families are left struggling for answers and fear of the future for other children. It is imperative that we help these families find answers quickly and efficiently.

    What We Do

    U.R. Our Hope helps families by researching medical facilities and genetic tests. We connect families with physician’s and facilitate referrals whenever possible. We also help families enroll in clinical studies at some of the nation’s leading research programs and facilities. To date, many of our families have been seen at the National Institutes of Health’s Undiagnosed Disease Program, which only sees about 200 cases annually, and several have also enrolled in TGEN’s Center for Rare Childhood Disorders. Sometimes, these families just need to know they are not alone and need support along the journey. We host monthly meetings in the Austin area and have a closed Yahoo group for virtual support to those who are not in Texas.

    Currently, we use the donations we receive to support our families along the journey by:

    • Providing meals during hospitalization or times of crisis
    • Providing gas/meal cards to families traveling out-of-town or out-of-state for medical appointments
    • Covering a portion of funeral costs/arrangements when families lose a child
    • Covering costs of record requests, shipping, and application fees for clinical studies

    In the future, we would like to be able to support families in many different ways, which include:

    • Covering the cost of medical visits not covered by insurance
    • Covering the cost of genetic testing
    • Covering travel costs (air/bus fare, hotel accommodations, meals, etc) for medical visits and for families to attend annual conferences
    • Covering costs for medical and therapy equipment

    We also hope to create and sustain a national network of Undiagnosed Patients for use by physicians. Currently, there is no national database storing the valuable information Undiagnosed Patients present to the medical community. The creation of a national network would allow physician’s to input their patient’s cases (symptoms and not personal identifying information) and compare them to other cases in the United States. If a match is found, a doctor would then be able to contact the treating doctor of the matched patient to create real time collaboration. Our Director of Advocacy has worked with Representative John Carter in Texas to create legislation to help create this network, but the bill has failed in the last 3 times it has been presented. Representative Carter’s office continues to support this bill as does U.R. Our Hope. We would like to be the organization behind the network and this would require a significant amount of money and partnerships.

    Advocacy

    We help to advocate for patients with undiagnosed and rare disorders by helping to promote legislation that will benefit our families. Our Director of Advocacy is very active in legislative efforts and our organization has even co-authored a bill that would create a network as a tool for physicians to register their undiagnosed cases and find other physicians handling similar cases in order to promote real-time collaborations focused on finding a diagnosis and improving the care and outcomes of their patients. The Director of Advocacy attends conferences and helps families learn to advocate and tell their story to make meaningful changes to legislation.

    BOARD OF DIRECTORS

    Meet the women behind U.R. Our Hope

      Mary Elizabeth

      Mary Elizabeth Parker, PT, PhD, PCS, NCS

      Co-founder & Medical Liaison

      Dr. Parker graduated from Duke University in 1991 with a double major in biological psychology and physical anthropology. She completed her Master’s degree in physical therapy in 1995 at the Medical College of Virginia. She is licensed to practice Physical Therapy in Texas and Connecticut. She continues to have an active research agenda in movement disorders in autism with her colleagues in the northeast from SUNY, Sacred Heart, and Fairfield University.

      She has received a certificate in Advanced Pediatric Therapy from Texas Woman’s University in 2004, followed by board specialization in both pediatric and neurologic physical therapy from American Board of Physical Therapy Specialists. Her dual certification in pediatrics and neurology is unique in the profession.

      She is an item writer both for the national PT and PTA exams.

      She completed her PhD at Texas Woman’s University in physical therapy; her dissertation is in differential diagnosis.

      Her passion for the undiagnosed is channeled through this work and her role as medical liaison for U.R. Our Hope, a locally based, but national group that assists individuals with undiagnosed and rare disorders at any age or any stage.

      Dr. Parker is a clinical associate professor of physical therapy at Texas State University. She maintains a small clinical practice through Growing Places Therapy Services in the Austin and surrounding areas.

      Vanessa

      Vanessa Vaughan

      Director of Communication

      Vanessa is a mom of 3 children, and it is the journey of her middle child, Braxton, that led her to U.R. Our Hope. Braxton was born with multiple congenital anomalies that doctors were unable to diagnose. After 2 years and with the help of U.R. Our Hope, Braxton finally received a rare diagnosis of Rubinstein-Taybi Syndrome. The support from other parents helped Vanessa heal and empowered her to push for further answers on Braxton’s condition. Although Braxton is now diagnosed, Vanessa has gained valuable experience and is compelled to support other families who are also on the journey. Vanessa joined the Board of Directors as the Director of Communications and maintains our website, social media and marketing efforts. When she is not working, she can be found hanging out with her kids or DJing with her husband in the Austin area!

      Elizabeth

      Elizabeth Perot, OTR

      Director of Community Relations

       

      Magda

      Magda Mitaszka, DPT

      Director of Community Outreach

      Magda is a graduate from the Physical Therapy program at Texas State University. She works in an outpatient clinic in Austin, delivering 1 on 1 care to a diverse patient population. During her time at Texas State, she was the community service coordinator and participated in many U.R. Our Hope events, forming a passion for the organization and its mission. She joined the Board of Directors as the Director of Community Outreach, with the vision of using her voice to empower the community in giving back. In her free time, Magda enjoys music, traveling, and NBA basketball

      ADVISORY BOARD

      Meet our supporting members

      Betsy Furler

      Betsy is a speech pathologist and autism consultant with 20 years of experience in a variety of settings. She graduated from Austin College with a BA in Psychology and Sociology and from the University of Texas at Dallas with a MS in Communication Disorders. She also holds a Texas teaching certificate and is a certified PLAY Project consultant. In 2010, she began using the iPod Touch and iPad in therapy sessions. Her use of these mobile devices has expanded to include training educators to use them in the classroom. Betsy is also the mother of two boys, Henry 15 and Sam 9. Henry has struggled with many medical problems since birth. The family has traveled across the US in search of a diagnosis for Henry. After 15 years of searching, success with the ketogenic diet for epilepsy and Whole Exome Sequencing have provided some answers although Henry remains partially undiagnosed.

      LeighAnn Montieth

      LeighAnn graduated from Marymount Manhattan College with a BFA in modern dance performance and a minor in mathematics. Following a career as the General Manager of New York Yoga, she received her doctorate of physical therapy at Texas State University in 2017. She is now a licensed physical therapist in the state of Texas and combines her love of all things physical and a passion for helping kids and their families by practicing at Texas Children’s Hospital in Houston. She learned about U.R. Our Hope through Mary Elizabeth Parker and has been an active volunteer ever since.

      Ashley Graves

      Ashley completed her undergrad degree in May, 2009 from Stephen F. Austin State University, majoring in biology and minoring in Chemistry. She has a Masters of Biomedical Science from the University of North Texas Health Science Center. In May, 2017 she received her Doctorate in Physical Therapy (DPT) from Texas State University. After Graduation, Ashley joined Cook Children’s Medical Center in Fort Worth as a Neurodevelopmental Physical Therapist. Her early volunteer work and interaction with children developed her passion for pediatrics from a young age. Ashley continues to funnel this passion through her involvement and service in her community and work with many local non-profit organizations. She has been an active volunteer for U.R. Our Hope since 2015, and in 2018 was invited to join the advisory board.

       

      Paige Foster

      Paige graduated from Abilene Christian University in 2015 and received a Bachelor of Science with a major in kinesiology, pre-physical therapy and a minor in business administration. In 2018, she received a Doctorate of Physical Therapy (DPT) at Texas State University and is now a licensed physical therapist in the state of Texas.  Paige serves as a pediatric physical therapist at West Texas Rehabilitation Center in Abilene, Texas where she enjoys volunteering throughout the community and spending time with her dog.  Paige first learned about U.R. Our Hope through Mary Elizabeth Parker while studying at Texas State University.  Since then, she has volunteered with various events and encourages families on the journey to diagnosis to seek out the resources and support available through this organization.

      Debra McDowell

      Debra is a physical therapist licensed in Texas. She completed her PhD in Physical Therapy at Texas Woman’s University School of Physical Therapy – Dallas in 2008. She has been in practice in Austin for over 20 years with her practice and research focus on fall prevention for older adults and older women’s health issues. Recently, Debra was instrumental in developing a Physical Therapist Assistant program at South University, Austin. Presently, she is an Assistant Clinical Professor with the Texas State University Physical Therapy Program teaching in the neurology course series and assisting with the clinical decision making sequence. In addition she has taken the position of Administrative Director of the Texas State University Physical Therapy Clinic.

      She joins our organization as an assistant to our Medical Liaison.