ALD Newborn Screening: Diagnosis is the Beginning
Identifying ALD Standards of Care
McCarren Hotel 160 North 12th St Brooklyn, NY 11249
Thursday/Friday January 19 & 20, 2017
Thursday January 19th
8:30-9:30 BREAKFAST
9:30-10:30 ALD NBS – History & Test Development Ann Moser
10:30-11:30 ALD NBS : Update 3 Years of Testing in NY - Updated numbers, Any issues or new methods of testing since year 1, can we quote a new incidence rate Michele Caggana/Joseph Orsini
11:30-12:00 After the Diagnosis: What happens after a baby is identified? Meeting with the family, what is discussed, any information shared: center in their area, neurologist, endocrinologist, etc Is the family given any published information? Beth Vogel
12:00-12:30 Reproductive Options Alejandro Iglesisas, MD
12:30-1:30 LUNCH
1:30-2:30 Endocrinologist: to discuss their experience, share with the group when testing for adrenal insufficiency should start, stress dosing Rose Marino, MD
2:30-3:00 Nutritionist: Discussion diet for newborns and modifying diet after 18 months Hong Brereton
3:00-3:30 Lorenzo’s Oil: Update/Availability Gerry Raymond, MD
3:30-3:45 BREAK/SNACK
3:45-4:15 Neurologist: How often will MRI’s be administered? Recognizing changes in an ALD MRI Gerry Raymond, MD
4:15-5:00 Address: 1) AMN Men C
AN develop cerebral form of the disease 2) Discussion of age ALD presentation in boys 3) Importance of a 2nd Opinion Jennifer Kwon, MD
5:00-5:45 BMT: Take us through the experience, any updates on method, Chemotherapy, drugs administered, time spent in the hospital, challenges, etc. Address “There is No Cure” Statement. Paul Orchard MD
Friday January 20th
8:30-9:30 BREAKFAST
9:30-10:00 A Mother’s Perspective Suzanne Flynn
10:00-11:00 Tailoring Treatments to Phenotype: What are the Gaps? Orpeheris – Drug Development Florian Eichler, MD
11:00-11:30 Can Sports/Activities be a trigger for ALD -Dutch Standard of Care Marc Engelen, MD
11:30-12:30 ALD Database-Phenotype/Genotype Discussion Stephan Kemp, MD
12:30-1:30 LUNCH
1:30-2:00 Bluebird Bio Gene Therapy Gary Fortin
2:00-2:30 Retrophin William Soliman
2:30-2:45 Rare Bear Program Janis Sherwood
2:45-3:30 Questions/Comments