It is in coming together that we find the strength to endure the hardships, learn about the wonder of others and create a place to celebrate success. 

The PURA Syndrome Foundation

The PURA Syndrome Foundation is a globally focused charitable organisation, registered in the USA as a 501(c)(3) tax-exempt non-profit corporation. The Foundation supports and educates patients and their families, providing a global community. Governed by volunteer international board members, the Foundation provides the global community with a place to belong. For those isolated by rare disease, the Foundation provides access to medical research being completed and educates people about the condition. Foundation, families, clinicians and researchers together as one community. We keep our families informed by organizing a yearly global conference, developing educational materials and sending out quarterly newsletters.

 

Our biggest annual event is a conference where the families of patients with PURA syndrome can convene, support each other and share resources. Families also hear from medical researchers who are working to understand PURA syndrome. Bringing the families and researchers together at this event, increases understanding and knowledge for research. This in turn, enhances the quality of life for patients and their families. 

Our Mission

The PURA Syndrome Foundation supports and educates patients and their families, providing a global community. This community provides a place of belonging to those who may otherwise feel isolated by rare disease, enriches the medical research being completed and educates those outside the community about the condition.  

 

Our mission is to serve, educate and fund research for families coping with the effects of PURA syndrome.

Our values are:

• Respect – everyone is valued

• Community – everyone belongs

• Teamwork – Foundation, families, clinicians and researchers as one

• Continuity – plans for future growth and change

• Responsibility – ethics and governance

From the President
 

Hello! I am Dominic Spadafore, and I serve as the President of the PURA Syndrome Foundation. The Foundation is here to help support and educate our families as well as support and advance research into PURA syndrome.  Thank you for visiting our website. There is a lot of information here to support both families of PURA syndrome and their clinicians.  We also have a Foundation Facebook page. Please join it to receive regular updates on events and research.  

As a foundation, we are working with two other organisations in order to advance our mission to ‘solve’ the PURA syndrome puzzle.
 

1) The PURA Syndrome Global Research Network: a dedicated group of research and clinical doctors sharing information and providing continuing research into the effects of PURA syndrome.

2) Parents of PURA Syndrome: a Facebook community, administered by the parents, exclusive to parents of PURA patients, where they are able to socially connect and share their experiences.  This site is kept private to primary care givers only so they can talk more openly and discuss issues that are sensitive or challenging. 

 

The PURA Syndrome Foundation welcomes contact from the community.

The foundation has parent liaisons that assist and support PURA families. To make contact with the Foundation and/or the private parents group, please email our liaison below.
 

Kerry Hildring
Please contact her via email at k.hildring@pura-syndrome.org

Governance Committees

 

Committee members are volunteers drawn from the Board, the PURA Syndrome Global Research Network and the PURA syndrome parent community. When we need people to join a committee we either issue a general invitation or target those who we believe may have a particular interest and skills in the issue and area.
 

Granting Advisory Committee

  • Dominic Spadafore (President)

  • A/Prof Jennifer Gordon (USA)

  • A/Prof Rick Leventer (AUS)

  • Dr David Hunt (UK)

  • Melissa Vaught (Parent representative, USA)

Registry Advisory Committee

  • Dominic Spadafore (President)

  • Prof Diana Baralle (UK)

  • Prof Dierk Niessing (GER)

  • Margot Reijnders MD (NED)

Biobank Advisory Committee

  • Dominic Spadafore (President)

  • Prof Jerzy Adamski (GER)

  • A/Prof Jennifer Gordon (USA)

  • Dr Andrew Douglas (UK)

  • Kathleen Fowler - (Parent representative, USA)

Fundraising Working Group

  • Damon Fisher (Treasurer)

  • Selected parents (rotational)

Governance Documentation
 

Annual Report  -  2017 Report
 

Foundation Bylaws - forthcoming

1023 - 2016 Filing 

990 - 2017 Filing

PURA Syndrome Foundation Data Protection and Privacy Policy

 

Board Positions Vacant
 

The success of the PURA Syndrome Foundation comes with a need to grow our Board of Directors. 

We are currently seeking to fulfil the following Board roles

 - Vice President of the Board of Directors. 

To view the Vice President Job Description please visit this link.


- Secretary of the Board of Directors. 
To view the Secretary Job Description please visit this link.
 

Please consider helping us, so that we may continue to help families.

Can you help?

 

There are many ways that you can support individuals and families affected by PURA syndrome.


You could:

  • Donate funds to help support research being undertaken

  • Hold a social event with your friends to donate proceeds to the Foundation

  • Share our Facebook page on social media

  • Support the Board of Directors


Have an idea or want to ask a question?
email our Foundation President Dominic
d.spadafore@pura-syndrome.org 

Governance - Board of Directors

Dominic Spadafore - President 

Dominic is a licensed architect practicing across the country on a variety of projects from zoos and parks to hospitals, college campuses, and libraries.  In addition to design and managing architectural projects, he spends a great deal of time and effort in bringing sustainable design and processes to projects, as well as assisting in the operations of his company, Dewberry Architects. Dominic is husband to Christy and father to Fran, Rocco, and Vincenza “Cenza”.  Cenza, was diagnosed with PURA syndrome in August, 2016, when she was 3 ½ years old.  Dominic is looking forward to contributing to the PURA Syndrome Foundation through strategic initiatives, growth planning, and outreach and support to the parents and care givers of PURA syndrome patients.  For over 14 years he has held many positions serving on non-profit boards for his church, as well as the Eastern Oklahoma chapter of the American Institute of Architects. Dominic and his family currently reside in Tulsa (USA). 

d.spadafore@pura-syndrome.org

Damon Fisher - Treasurer

Damon holds a degree in Electronics Technology, having worked at his current employer for 27 years. In this role, he coordinates and manages complex projects in the electric utility industry. Damon is a strong believer in giving back to the community. He is active in his church, where he is an Elder and serves on the Church Session, which governs the operations of the church. In this role, Damon is currently in charge of the Buildings and Grounds operations and budget and helps create the overall church budget.  He also supports the non-profits U.R. Our Hope (rare and undiagnosed conditions), as well as T and C Miracle League, where his son Owen plays baseball as a Texas Ranger. Owen was diagnosed with PURA syndrome in 2014, at the age of 12. Damon is passionate about bringing families with rare genetic conditions together, and hopes to meet all the PURA syndrome families in person one day. Damon lives in Texas (USA), with his wife Amy, son Owen and dogs, Ruby and Anna.

Kerry Hildring  - USA Parent Liaison

Kerry has had a life long passion for special needs services, growing up with an uncle in Iowa with Down’s syndrome. She teaches 3, 4, and 5 year olds in the public school system, serving special needs children and their parents. She has a desire to change society’s perspective and to make a difference in a child’s life, the reason why she first became an Early Childhood Teacher 20 years ago. Kerry assists her local community through emergency first aid youth mental health response support, mentoring re-service teachers and coordinating projects such as the Early Childhood Learning Garden. Kerry’s daughter Paige was diagnosed in 2016 with PURA syndrome, at the age of 8.5 years. Paige loves music and dancing, taking part in dance class events. Kerry resides in the Iowa, USA, with her wife Paula, daughter Paige, and son Zachary.
k.hildring@pura-syndrome.org 

Jon Erickson - IT and policy support

Jon is the Chief Technologist of InsuraMatch, a subsidiary of the Plymouth Rock Group. He has started several companies: Parlerai, a collaboration service for children having special needs; Apliant, a technology service for insurance agents; and OnCorps, an adaptive decision sciences company.  Jon was also a venture partner of Fidelity Ventures, the chief network architect of Fidelity Investments and the chief technology officer of COLT's European Internet business. Jon is a board director of AbilityPLUS, offering recreational opportunities for individuals with disabilities.  He is also a board director of Friends of Tuckerman Ravine, partnering with the US Forest Service preserving the slopes of Mount Washington.  Jon’s daughter Karly was diagnosed with PURA syndrome in 2016. She loves her brother Grant, spending time outdoors and is a student at the Crotched Mountain School. Jon, his wife Kristin, son Grant and daughter Karly reside in the USA.

Todd Vaught

Todd is a District Manager for Waste Management, Inc.  During his 25-year career, Todd spent ten years managing collection companies that serviced more than 250,000 commercial & residential customers and fifteen years as a recycling coordinator overseeing an operation that processes and markets 150,000 tons per year of recyclable products.  While attending Indiana University, pursuing his degree in Biology, Todd met and married Melissa and they have been married for 27 years.  They have two children, Taylor 25 and TJ 22.  Their oldest Taylor was diagnosed with PURA syndrome in 2015 at age 22.  Todd is an active supporter of Bridge of Promises, a non-profit organization that provides classes and activities for adults with special needs and has participated as a team leader for Habitat for Humanity.  It’s Todd’s hope to utilize his business skills to help support the PURA Syndrome Foundation in any capacity.  Todd and his family currently reside in Seattle, WA. 

Amanda Shanks

Bio and picture is forthcoming

 

The PURA Syndrome Foundation is a registered 501(c)(3) charity organization. Information on this website is not a substitute for personal medical advice. Families should consult a medically qualified physician in all matters relating to genetic diagnosis , management, and health . Information about PURA and genetics in general is a very fast moving area and while the information on this website is regarded as the best at the time of publication , some facts may change later .