MLD Family Conference™ ... Pittsburgh, PA - 2014

See the Conference Overview Registration is no longer available -- this conference is over.

Please check out the conference videos here.


See the Conference Invitation


2014 MLD Family Conference™ AGENDA

Sponsored by the MLD Foundation

July 18-19th in Pittsburgh, Pennsylvania

as of July 11, 2014 – subject to change ... See last year's agenda here


Friday, July 18th

9:30

Doors open - sign in & registration,
respite room opens

Doubletree Suites, Pittsburgh
map iconclick for address & map to hotel

10:00

Welcome & Introductions


Dean Suhr
President, MLD Foundation


Metachromatic Leukodystrophy: Overview,
Genetics, Newborn Screeing, & Research
Moderator: Dean Suhr, President, MLD Foundation


10:15



The Landscape

- Understanding the disease
- Issues in developing, testing and approving therapies

PANEL:

- Dr. David Wenger* - Director, Lysosomal Diseases Testing Laboratory, Philadelphia, PA

- Dr. Lawrence Charnas* - Pediatric Neurologist, MLD Foundation Board member, Boston, MA

Lawrence Charnas, MD, PhD is currently Director & Head of Discovery Medicine, Research at Shire Pharmaceuticals in Lexington, Massachusetts. He joined Shire in 2008 as a Medical Director, Translational Medicine in the legacy HGT Division, where he was the Medical lead on several clinical development programs including ACE031, a soluble ActRIIb receptor for Duchenne Muscular Dystrophy and an enzyme replacement therapy in Globoid Cell Leukodystrophy (Krabbe Disease).

Prior to joining Shire, he was an Associate Professor of Pediatrics and Neurology at University of Minnesota, working on the treatment of Adrenoleukodystrophy and other lysosomal leukodystrophies with Hematopoietic Cell Transplant. Prior to joining the faculty at University of Minnesota, he had developed expertise in a number of other rare, pediatric genetic diseases including cystinosis, osteogenesis imperfecta and the Oculocerebrorenal syndrome of Lowe.

He received his B.A. in Chemistry (Cornell University, Ithaca, NY), an MD and PhD - Genetics ( University of Pennsylvania, Philadelphia, PA) and clinical training in Adult Neurology (Johns Hopkins Hospital, Baltimore, MD), Medical and Biochemical Genetics (NICHD, Bethesda, MD), and Pediatric Neurology (University of Minnesota).

He has co-authored many peer reviewed articles, and serves on the Medical and Scientific Advisory Boards of the MLD Foundation and Lowe Syndrome Association.

- Dr. Tony Rupar, Children’s Health Research Institute, London, ON

12:15
Lunch


hotel


1:15


Patient Data
- How it can benefit you
- How we can help research


- Dean Suhr, MLD Foundation

- Dr. Maria Escolar* - Neurodevelopmental pediatrician ... MS, Director, Program for the Study of Neurodevelopment in Rare Disorders (NDRD), Children's Hospital Pittsburgh, UPMC


1:45


MLD Foundation Discussion


Support, growth, sustainabiity, & project priorities


- Christine Hoffmann, MLD Mom and MLD Foundation Board Member

- Dr. Lawrence Charnas* - Pediatric Neurologist, MLD Foundation Board member, Boston, MA


2:45


break


 


3:00


Newborn Screening
- Updates on the development of a MLD screen
- Policy discussion


- Dean Suhr, MLD Foundation

- Teryn Suhr, MLD Foundation

- Dr. Eric Crombez, Shire, Lexington, MA

- Dr. Maria Escolar* - Neurodevelopmental pediatrician ... MS, Director, Program for the Study of Neurodevelopment in Rare Disorders (NDRD), Children's Hospital Pittsburgh, UPMC


3:30


Current Research & Clinical Trial Updates

- Stem Cell Transplant

Clinical Trial Updates:
- Gene Therapy With Transplant - Milano
- Intracerebral Gene Therapy - Paris
- Enzyme Replacement Therapy - all but USA
- Substrate Reduction Therapy
- other research




- Dr. Paul Szabolcs
, Chief, Division of Blood & Marrow Transplantation and Cellular Therapies, Children's Hospital Pittsburgh

- Dr. Alessandra Biffi (video & live), San Raffaele Institute (Gene Therapy), Milano Italy

- Dr. Caroline Sevin (video interview), Inserm (gene therpay), Paris – invited

- Dr. Tony Rupar, Children’s Health Research Institute (gene therapy), London, ON

- Dr. Eric Crombez, Shire (ERT), Lexington, MA


5:00


MLD Foundation Update
- MLD Compassion Fund™


Dean Suhr
Teryn Suhr


5:30-6:30


free time

6:30


Hosted casual dinner


casual hosted dinner - at the hotel

9:00


MLD After Hours
... an informal time

tba


Saturday, July 19th


Practical Living with MLD ... the practical aspects of day to day life with MLD

Moderator: Teryn Suhr, Executive Director, MLD Foundation



8:30am


Doors open - respite room opens

Buffet breakfast starts


9:30



Where Is The Help?


This session will deal with accessing services: medical, state/federal, school, and outside resources.
Topics will include: OT, PT, Medicaid


PANEL:
- Dr. Julie Hauer*, Pediatric Palliative & Pain Care Consultant, Boston Children's Hospital, Boston, MA

- Dr. Lawrence Charnas*- Pediatric Neurologist, MLD Foundation Board member, Boston, MA

- Dr. Maria Escolar* - Neurodevelopmental pediatrician ... MS, Director, Program for the Study of Neurodevelopment in Rare Disorders (NDRD), Children's Hospital Pittsburgh, UPMC

- Tara West, RN, MSN, CPNP (Certified Nurse Practitioner), also with NDRD

- Megan Sacchetti, MLD Mom, Family Representative

... and all of the families

10:30


Decisions, Decisions!


There are so many decisions you need to make along the MLD journey but how do you decide, how do you know what’s working and what’s not?
Topics to be covered include: Therapies, Medications, Adaptive Devices, Toys, Car Seats

- Susan Lipe, MLD Mom, Family Representative

- and the PANEL - see above

11:30  break


11:45


Family Dynamics


Overview of the Differences in Personalities and How They Handle Stress

Stages of Acceptance (Tara West)

How others have handled life after the MLD diagnosis



- John Beltramo, Psy. D., Licensed Clinical Psychologist, IL

- Dr. Julie Hauer*, Pediatric Palliative & Pain Care Consultant, Boston Children's Hospital, Boston, MA

- Tara West, RN, MSN, CPNP, Program for the Study of Neurodevelopment in Rare Disorders, Children's Hospital Pittsburgh, PA

... and all of the families

1:00  lunch


2:30


Group Picture


tbd


3:00


MLD Angel Ceremony


outside the hotel

3:30 break


3:45


Family Sharing


What's Important to You?


... all of the families

4:45


Closing comments


Teryn Suhr
Dean Suhr

5:00 - 7:00

free time


7:00


Beach Glow Party


Gather your family and come to the “Beach” for a “glowing” good time! Dinner, music, sing-a-longs and special surprises await!

Doubletree Suites


9:00


MLD After Hours
... an informal time

tba


tbd - to be determined

* Member of the MLD Foundation's Medical and Scientific Advisory Board (MSAB)


Sunday

Sunday is an optional social day.
Hotel checkout is at noon
.


Thank you to our sponsors, service, & grant providers
:

In memory of Mac Murray, Oliver Ciparelli, & Kim Parowski   Shire Pharmaceuticals   Honoring Olivia   Stennis Foundation   Believing For Bryleigh  
who through their sponsorships, grants, and support are making this conference much more affordable for the attending families.

We also wish to thank the individual families for their donations to the scholarship fund.


Questions?
Contact Dean Suhr <deansuhr@MLDfoundation.org> +1 503-656-4808, USA: 1-800-617-8387, or FAX +1 503-212-0159
This conference is organized by the MLD Foundation. Check with your tax advisor about the deductibility of any expenses associated with this conference.


Home | About Us | Contact Us | Disclaimer | Privacy Policy | Legal-Trademarks |(c) 2000-2017 MLD Foundation