Newborn screening starts with a lab test but then needs to be implemented into the 50+ state public health systems in the US. This session discusses what we need to have and do above and beyond the lab test (see separate video) to implement MLD newborn screening into all fifty states, 6 territories, and the military including developing a Standard of Care, improving diagnostic consistency, RUSP nomination, state lab implementation, and our desires to implement MLD NBS internationally.

Dean Suhr, President - MLD Foundation
Plymouth Meeting, PA

A very scientific in-depth explanation and update on the biochemical lab screen test development, validation, pilot study, and strategy underway in the state of Washington.

Michael Gelb, Professor, PhD - University of Washington
Plymouth Meeting, PA

Development and pilot study update for a MLD Newborn Screen. Federal & State policy, ACHDNC, RUSP, RUSP Roundtable

Prof. Micahel Gelb, Adjunct Professor of Biochemistry - University of Washington
Seattle, WA

Newborn Screening Policy presentation made at the May 2015 Emerging and Translational Biology of Leukodystrophies Conferernce at Kennedy Kreiger Institute in Baltimore, MD in partnership with GLIA.

Dean Suhr, President - MLD Foundation
West Linn, OR USA

Announcing the MLD Newborn Screening Pilot Study

Teryn Suhr, Executive Director - MLD Foundation
West Linn, OR USA

An update on the MLD Foundation work to develop a newborn screening test for MLD including an interview with Dr. Michael Gelb.

Teryn Suhr, Executive Director - MLD Foundation
West Linn, OR USA

Different ways you can work with your child to keep their muscles relaxed, loose and reduce contractions. It can also be a wonderful way to connect with your child through movement and touch. It may be helpful to share this with your care team of therapists for them to perhaps learn something new while working with your child.
This video was produced by Dean Suhr for NTSAD, however, it applies to MLD patients as well.

Haley Snyder, PT - National Tay-Sachs & Allied Diseases Association

Mechanical assisted percussive therapy to loosen up secretions in the lungs. It is known as The Vest, Airway Clearance Vest, High Frequency Chest Wall Oscillation, and SmartWay Airway Clearance System, and other names depending on the manufacturer.
This video was produced by Dean Suhr for NTSAD, however, it applies to MLD patients as well.

Lorelei Sandoval - National Tay-Sachs & Allied Diseases Association

Working with your child to keep their muscles relaxed, loose and to reduce contractions. It can also be a wonderful way to connect with your child through movement and touch. It may be helpful to share this with your care team of therapists for them to perhaps learn something new while working with your child.
This video was produced by Dean Suhr for NTSAD, however, it applies to MLD patients as well.

Lorelei Sandoval - National Tay-Sachs & Allied Diseases Association

A comprehensive review of an intervention that can help your child or loved one when swallowing food becomes too difficult. It is a family choice and there is no right or wrong answer when it comes to making a decision for your child. Patricia Beaudry, RN explains G-Tubes: A to Z with Isaac in this video.
This video was produced by Dean Suhr for NTSAD, however, it applies to MLD patients as well.

Patricia Beaudry, RN - National Tay-Sachs & Allied Diseases Association

Medical cannabis/CBD oil. How to access, determine strain and dose, assure quality & consistency, legalities, where do you start, etc. (part 1)

Constance Finley, Founder - Constance Theraputics
Oakland, CA USA

Medical cannabis/CBD oil. How to access, determine strain and dose, assure quality & consistency, legalities, where do you start, etc. (part 2)

Constance Finley, Founder - Constance Theraputics
Oakland, CA USA

A conversation with Dr. Mark Hughes, founder of the Genesis Genetics institute, about PGD - Preimplantation Genetic Diagnostics, a test just before IVF to determine the non-affected embryos to implant.

Dr. Mark Hughes - Genesis Genetics
Detroit, MI USA

Welcome and Introductions of all conference attendees

The basics of MLD ... MLD-101 ... The science of MLD explained in a highly interactive manner

Brett Crawford PhD, Biomarin & Marc Patterson MD, Mayo Clinic

Clinical issues ... what does MLD mean to the patient in terms of clinical issues, forms of progression, etc.?

Brett Crawford PhD, Biomarin & Marc Patterson MD, Mayo Clinic

Current therapies for MLD including an overview of potential therapeutic approaches and therapies in clinical trial ... including ERT/enzyme replacement therapy and gene therapy.

Brett Crawford PhD, Biomarin & Marc Patterson MD, Mayo Clinic

An introduction to Orchard Therapeutics. Early in 2018 Orchard acquired the Milano (Italian) gene therapy IP (intellectual property) from GSK (GlaxoSmithKline). This is their first public presentation to the MLD community. OTL-200 is the MLD project name.

Sue Rogers, VP – Global Distribution, Patient Access & Support Services - Orchard Therapeutics

A very scientific in-depth explanation and update on the biochemical lab screen test development, validation, pilot study, and strategy underway in the state of Washington.

Michael Gelb, Professor, PhD - University of Washington

Newborn screening starts with a lab test but then needs to be implemented into the 50+ state public health systems in the US. This session discusses what we need to have and do above and beyond the lab test (see separate video) to implement MLD newborn screening into all fifty states, 6 territories, and the military including developing a Standard of Care, improving diagnostic consistency, RUSP nomination, state lab implementation, and our desires to implement MLD NBS internationally.

Dean Suhr, President - MLD Foundation

An overview and discussion of why we need you involved in MLD and rare disease advocacy at both the state and federal levels. Includes some simple and quick ways to get involved.

Dean Suhr, President - MLD Foundation

Government benefits (SSDI, Medicaid, etc.) ... what benefits might be available for your loved one, how to access those benefits, how to appeal a decision, etc.. Mr. Polonsky is an attorney specializing in special needs issues as they relate to government benefits.

Alan Polonsky, Esq. - Polonsky and PolonskyAttorneys at Law

Butterfly Ceremony – A special remembrance of those who have earned their Butterfly Wings since our last time together and honoring all our MLD Angels

Teryn Suhr, Executive Director - MLD Foundation

Please join us in Plymouth Meeting, just west outside of Philadelphia, PA on July 6th and 7th, 2018. Registration link is just below the video.

MLD Foundation

Images from the 2017 MLD Family Conference™ in Suffolk VA.

Soulumination

Welcome and Introductions of all conference attendees

Leukodystrophy, lysosomal disease, incidence ... and more

Brett Crawford, PhD, Staff Scientist - Biomarin Pharmaceuticals

Leukodystrophy, lysosomal disease, incidence ... and more

Brett Crawford, PhD, Staff Scientist - Biomarin Pharmaceuticals

Milano Gene Therapy research update, outcome summary, and future plans.

Francesa Fumagalli MD PhD - San Rafaelle -TIGET

A brief look at the incidence, prevalence, and inheritance of MLD incluiding a look at US, First World and Global numbers. This video was extracted from What's in A Name part 2.

Dean Suhr - MLD Foundation

Hear and discuss the latest going ons in MLD research and learn the steps in the research process. Includes updates on ERT, transplant, small molecule, Outcomes Research, and NDRD. Gene Therapy is discussed in its own video.

Wasilewski, Harrington, Szabolcs, Escolar, Phillips

A very brief update from Shire on their Enzyme Replacement Therapy Clinical Trial and outcome monitoring.

Margaret Wasilewski, Global Clinical Development Lead for Rare Disease Neuroscience - Shire Pharmaceuticals

Presentation of outcome and progression data gathered from MLD Families by Shire.

Magdalena Harrington PhD, Director, Health Economics and Outcomes - Shire Pharmaceuticals

A brief overview of the Program for the Study of Neurodevelopment in Rare Disorders (NDRD) that Dr. Escolar has operated for many years.

Maria Escolar MD, Developmental Pediatrician, Director - Program for the Study of Neurodevelopment in Rare Disorders (NDRD) - NDRD - Children's Hospital of Pittsburgh/UPMC

A presentation and discussion about the state of the art in cellular transplant.

Paul Szabolcs MD, Chief, Blood and Marrow Transplant & Cellular Therapy - Univ. of Pittsburgh Medical Center

An update from Armagen on their insulin receptor targeting to cross the blood-brain barrier along with a greeting from the CEO.

Joseph Phillips PhD, Sr. VP & Head of Pharmaceutical Development - Armagen

Helping to understand and navigate the Medicare maze, including the Compassionate Allowance for expediting late infantile Medicaid applications.

Inez Lyod - Social Security Administration

An update on the MLD NBS pilot Study in Washington and a discussion of next steps.

Prof. Michael Gelb, PhD - University of Washington

The importance and simplicity of helping MLD and Rare Disease advocacy including stories from those who have been active in 2017.

Dean & Teryn Suhr - MLD Foundation

Laura Alberts shares about her experience with her husband Travis in DC during Rare Disease Week 2017

Laura Alberts - MLD Foundation

Tony Hodgson shares about his experience in DC with Nancy and Michelle Pierce (his daughter) during Rare Disease Week 2017

Tony Hodgson - MLD Foundation

Education and discussion on the use of CBD oil for disease and symptom management. Jason is the inventor and supplier of the well know CBD variant, Hailey's Hope. He is able to ship to any US state and most countries.

Jason Cranford - Flowering Hope Foundation

Hear how a Lysosomal Center approaches patient care, how a healthcare advocate can help, get tips on handling insurance denials

Stephanie Cagle, MS, CGC (Certified Genetic Counselor) - Emory Univ. School of Medicine

Explore the educational resources available & how they can help you and your child

Gigi Durr, ESE Inclusion Specialist

Butterfly Ceremony – A special remembrance of those who have earned their Butterfly Wings since our last time together and honoring all our MLD Angels

Teryn Suhr, Executive Director - MLD Foundation

Building a MLD Toolbox to Address Possible Head to Toe Roadblocks – Explore and discuss issues that can come up along the MLD journey and possible solutions to have in your toolbox

Changdon, Escolar, Vanderver, West - panel discussion

Closing comments, wrap up and final thoughts.

Dean & Teryn Suhr - MLD Foundation

See the 2017 parade of MLD kids in their finest beach decor ...

A MLD Family tradition ... beating up on MLD!

Welcome to MLD Family Conference™ 2016 - Tarrytown, New York. Family and speaker introductions.

Dean & Teryn Suhr - MLD Foundation

Panel and family discussion about MLD care issues. Includes long discussion on GI issues.

Hauer, West, Charnas - Boston Childrens, Duke, Novartis

Acupuncture, accupressure, and Chinese medicine as alternative therapies for MLD.

Shannon Moy LAc MAOM - Serenity Accupuncture

Essential oils for MLD.

Adrian Moy, AA

An open and very frank discussion about how to share with friends, family, loved ones ... and ourselves.

Brett & Heidi Robertson, parents to Lily - MLD Family™

Medical cannabis & CBD oil. A discussion and sharing of experiences by MLD families. How are you using CBD oil? How do you determine strain, dose and assure quality & consistency? Legalities and practical issues. Reporting, studying, and sharing results.

Dean Suhr, President - MLD Foundation

An overview of the science & biology of MLD, and the approaches to therapies.

Brett Crawford PhD, Staff Scientist - Biomarin Pharamceutical

Development and pilot study update for a MLD Newborn Screen. Federal & State policy, ACHDNC, RUSP, RUSP Roundtable

Prof. Micahel Gelb, Adjunct Professor of Biochemistry - University of Washington

Updates on current therapies and clinical trials for MLD ... transplant, ERT, gene therapy ... Kurtzberg, Wasilewski, Aiuti ... Duke, Armagen, Shire, San Rafaelle, TIGET, GSK

various - MLD Foundation

Update on the gene therapy clinical trial in Milano Italy.

Alessandro Aiuti MD PhD, Director, Immunohematology Pediatric Unit, Chief Research Coordinator and Clinical Research Unit - San Rafaelle Institute

Update on transplant and oligodendrocyte cells (O-cells) for MLD.

Joanne Kurtzberg, MD, Chief Science Officer - Duke

2016 MLD Family Conference™ invitation

Teryn Suhr, Executive Director - MLD Foundation

Welcome to the 2015 MLD Family Conference™ in Newark, Delaware including introductions of the attending families.

Dean Suhr - President, Teryn Suhr - Executive Director - MLD Foundation

Neurometabolic aspects of caring for a loved one with MLD. Topics include medications, procedures, PAID, seizures, etc.

panel: Prang, West, Patterson

Discussion about how to solve common MLD care problems and frustrations ... Panel is MLD Family™ members.

Panel - MLD Families

Various family members who are not the primary caregiver share their thoughts and observations about MLD in their family.

Panel - MLD Families

Medical cannabis & CBD oil. A discussion with a leading CBD oil manufacturer and the MLD families. How are you using CBD oil? How do you determine strain, dose and assure quality & consistency? Legalities and practical issues. Reporting, studying, and sharing results.

Dean Suhr, President - MLD Foundation

An overview of the new (May 2015) Leukodystrophy Center of Excellence at CHOP, Children's Hospital of Philadelphia. The CHOP LCE is becoming a model for other LCE's internationally.

Erin Prange, MSN CRNP, Director of LCE Clinical Operations - CHOP - Children's Hospital of Philadelphia

An example and brief discussion about PAID – Paroxysmal Autonomic Instability with Dystonia

Panel: Prang, West, Patterson

Levi shares his creativity and passion for the rare disease community through conference photos, stories, and experiences. We are making a memory ...

Levi Gershkowitz, Photographer and Storyteller - Living In The Light of Rare Disease

Living in the Light of Rare Diseases ... storytelling through photography. http://www.frompatienttoperson.com

Levi Gershkowitz, Photographer and Storyteller - Living In The Light of Rare Disease

Our 2015 MLD Angel Ceremony and butterfly release honoring and remembering those we lost to MLD since our 2014 conference, and also honor the all the parents in attendance who lost a loved one to MLD.

Teryn Suhr, Executive Director - MLD Foundation

The entrance parade of the #FMLD Cowboys & Cowgirls along with a few candids from the #FMLD Roundup dinner party.

MLD Kiddos

A bit of the biochemistry and science behind MLD - explained in a way that everyone can understand. Dr. Crawford reviews the various therapy strategies and how they interactive with the defective cells.

Brett Crawford, PhD, Staff Scientist - Biomarin

Dr. Wenger is the gold standard for MLD diagnostics and testing in the US. He explains the genetic, diagnostic techniques, pseudo-deficiency (1 in 12 of us have it too!), and more.

David Wenger, PhD, Director - Lysosomal Lab - Jefferson University

An update on the MLD Foundation work to develop a newborn screen test for MLD including an interview with Dr. Michael Gelb, an overview of federal and state policy for NBS, the RUSP process, and an introduction to the MLD Foundation's RUSP Roundtable initiative which includes a discussion about viable therapy.

Dean Suhr - President, Teryn Suhr - Executive Director - MLD Foundation

An update on the Phase I/II Milano Gene Therapy clinical trial, including 5 year data and discussion of next steps.

Dr. Alessandra Biffi, Pediatrician, Head of Unit - TIGET, San Rafaelle Institute

Welcome to the 2014 MLD Family Conference™ in Pittsburgh, PA

Dean Suhr, President - MLD Foundation

Attendees introduce themselves and their families

The families - MLD Foundation

The MLD Foundation logo and We C.A.R.E. mission

Teryn Suhr, Executive Director - MLD Foundation

MLD Landscape - Understanding the disease, genetics, diagnostics, forms & progression

Panel - Charnas, Wenger, Rupar

Newborn screening update - developing a screen for MLD, policy at state and federal level, what we can & should do for MLD newborn screening

Dean Suhr, Teryn Suhr - MLD Foundation

Patient Reported Data, Registries, & Natural History Studies - How it benefits you and researchers

Dean Suhr, President - MLD Foundation

Growth, sustainability, fund raising tools and support for the MLD Foundation

Christine Hoffmann, MLD Board member and MLD mom

Research, Therapy, & Clinical Trial Updates

Panel: Crombez, Shenker, Biffi, Rupar

How MLD affects couples ... an open discussion of how some MLD couples have responded

MLD Families

Open sharing of ideas, tips, techniques, questions, concerns, travel (49:12), green goo (22:10), etc.

MLD Families

How to find and access resources and help ... and how to make decisons

MLD Families

Parade of Prince and Princesses into the Glow Beach Party

MLD Prince and Princesses - MLD Foundation

All about IEP's and what the school system in the US must offer to your child

Panel

How to Live with MLD, Optimizing Quality of Life, Family Sharing

Panel

MLD Overview ... a brief whiteboard style high level look at MLD and current research

MLD Foundation

The devastation of MLD on families ... someday no family will suffer the horrors of MLD.

MLD Foundation

A lighter moment at 2019's #WORLDsymposium. 108 sessions, including 3 MLD platform presentations, 5 MLD posters, a MLD Foundation booth, Dean presenting Rare Army, scientific words so long you can choke on them, meetings from 6:15am until 8:30pm (including four with biopharma and institutional partners working on MLD therapies) ... but only one opera singer, Jessica Klein-Foglio of the Salla Treatment and Research Foundation! #RareDisease

Jessica Klein-Foglio - Salla Treatment and Research Foundation

A brief kick off to September ... Leukodystropy and Newborn Screening Awareness month

MLD Foundation

A brief introduction to Leukodystrophy for Leukodystropy Awareness month

MLD Foundation