2nd International Homocystinurias Patient Expert Meeting 04 September 2017 Margie McGlynn President, HCU Network America

Who is HCU Network America? The Mission of HCU Network America is to: Inform and provide resources for patients and families Create connections across patients and families Influence state and federal policy Support advancement of diagnosis and treatment for HCU and related disorders.

Our Path to Forming HCUNAm: First national Patient/Family Meeting held in Colorado in 2011 Relationships established and connections grew through Facebook Business Plan for Patient Advocacy Group developed in 2015 Connected with HCU Network Australia through Facebook and meeting in Prague March 2016 Incorporated June 2016 and non-profit approved October 18, 2016

Our Path to Forming HCUNAm: We formed our board in mid-2016 Kristin Rapp, Vice - President Margie McGlynn, President Danae Bartke CFO & Secretary

Our Path to Forming HCUNAm: We expanded our board and advisors in 2017 – Kimberly Chapman Children’s National Washington D.C. Harvey Levy Boston Children’s James Weisfeld-Adams Children’s Hospital of Colorado Can Ficicioglu Children’s Hospital of Philadelphia

Accomplishments Website Built –

Accomplishments Resources available on Website Description of Homocystinurias Information for newly diagnosed Patient stories Brochure on HCU NA for patients and families HCU Treatment Guidelines “Find a Clinic” – listing by state Formula and Medical Food Vendors Financial assistance programs Videos Information on available clinical trials

Accomplishments Fund Raising Inaugural Campaign via Facebook 31 Donors $19,195 + donor match! Corporate Donors Being Solicited for: -Advocacy Plan -Support Clinic Outreach -New patient toolkit -Develop other educational materials, -Webinar Support -Newborn Screening -2018 Patient/Family Meeting -Investigate the current coverage and reimbursement landscape and change it!

Executive Director Hired Webinar on Guidelines Held March 1, 2017

Accomplishments Communication with community Facebook page: HCU Network America You Tube Channel: HCU Network America Twitter: @HCUAmerica Monthly Newsletters Community Calls

Things to Come New Patient Toolkit Expanded mailing list: patients, clinics & healthcare providers Advocacy Plan Webinar on Cobalamin Methylation disorders Improve New Born Screening and Insurance Reimbursement US Patient/Family Homocystinuria Conference April 21-22, 2018 Boston, Massachusetts Suburbs

HCU – We’ve Come a Long Way… 1962: Homocystinuria first discovered! 1964: Low Met diet known to reduce levels and symptoms 1964: Doctors prescribed blend of amino acids to combine with low Met diet 1968: Folic Acid found to help manage HCU 1983: B6, B12 and folic acid were found to better treat high hcy levels 1985: Betaine found to help reduce hcy levels 1994: Cystadane (Betaine) approved for market in US 2014: HCU Network Australia founded 2016: HCU Network America founded 2018: Human trials for enzyme replacement therapy start, research for other new therapies progresses But we need to keep working until a cure is found for all!