Family Sessions

The Barth Syndrome Foundation International Scientific, Medical and Family conferences are truly one of the greatest tools to deliver a better understanding of Barth syndrome to families, physicians, scientists and researchers. Each topic provides affected individuals and their families with crucial information about this complex disorder.

In an effort to give our affected families the tools to become the most effective advocates for their Barth individual, the Family Sessions will include expert presentations and panel discussions which focus on providing the most up-to-date information on current research advances, the clinical aspects of Barth syndrome (BTHS), day-to-day aspects of BTHS, and current resources and practical information about BTHS.

Individual Consultations & Clinics (Monday, July 16, 2018)

Barth Syndrome Registry and Repository
Full details about the registry and assistance with enrollment or updating of entries.

General Barth Syndrome Questions
Information regarding biochemical, diagnostic, natural history, general medical or treatment strategy questions.

Information about all aspects of genetics and how family members may be affected; collection of family pedigrees.

Investigation into Clinical, Metabolic and Molecular Factors in Barth Syndrome
Six-minute walk test and grip strength

Longitudinal Evaluation of Cardiomyopathy and Outcome in Barth Syndrome
Echocardiogram, EKG and questionnaire — for affected individuals who have participated in previous cardiology study led by Dr. Carolyn Taylor.

Pill Swallowing Workshop
Techniques and equipment for pill swallowing — creating a personalized program in a stress-free environment.

Height, weight and blood pressure

Family and individual portraits by Amanda Clark

Pick up badges, t-shirts/drop items for goody bags

Small Group Meetings
First Time Family Session
General orientation and walk through meeting for new families and mentors

Barth 101
Small group meeting for parents, caregivers and adult individuals with Barth syndrome. Informal session to help prepare attendees for more complex information presented later in the week. Topics: What causes Barth syndrome; how to understand clinic letters, echo and lab results; a practical guide to symptoms and how to manage them; basic cardiology, hematology, and genetic information; muscle weakness; feeding issues; infant milestones.

Welcome Event
Overview of conference; family introductions

Heart Transplant Meeting
Informal get-together of families with heart transplanted individuals.

Small Group Meetings, Consultations & Clinics (Tuesday, July 17, 2018)

Life as a Carrier or Potential carrier
This small group is open to all mothers, daughters, grandmothers, and sisters 15 years old and over who are invested in the life and care of an individual with Barth syndrome.

Pre-test Carrier Discussion
This is for potential carriers 15 years old and over. This small group will focus on how to make the decision about genetic carrier testing, what is involved with testing and what to think about before testing.

Post-test Carrier Session
This small group will focus on exploring the impact of learning that you are a carrier for Barth syndrome. How this might impact relationships, future plans, reproductive options, etc.

Carrier Session 4
Feedback from carrier study; creation of resource network; where do we go from here; what can we do to support each other.

How to prepare for the possibility of needing a heart transplant; transplanted patient perspectives; questions and answers.

Small Group Meetings, Consultations & Clinics (Wednesday, July 18, 2018)

Where is My Cure/New Therapies
A simplified summary of potential therapies for Barth syndrome.

Practical Workshops and Question and Answer Sessions to Promote Independence, Coping with Daily Life
Separate sessions for parents of affected individuals (ages 0-4; 4-8; 8-12; 18+).

Externally-led Patient Focused Drug Development Meeting on Barth Syndrome

Formal Lectures (Thursday, July 19, 2018)

Topics: PumpKIN (LVAD) for babies; transplants; longitudinal data; arrhythmia risks; electrophysiology, data on Barth individuals with ICDs; new drugs and their potential impact on taking part in clinical trials.

Barth Syndrome on a Daily Basis
Topics: Importance of exercise, OT and PT; pill swallowing; depression; anxiety; results of previous surveys; on-going quality of life research; energy conservation; pain management; peer-to-peer strategies.

Potential Therapies for Barth Syndrome
Merged with Science and Medicine Sessions (see Science & Medicine Sessions)


Luminaries on the Beach

Formal Lectures (Friday, July 20, 2018)

Clinicians' experience — Feedback from USA, France and the UK.

Genetics and Carriers
Topics: Genetic testing kits; strategies on talking to your children; what came out of the small group discussions.

Research and Survey Updates and Clinical Trial Explanation
Topics: Older affected individual survey results; upcoming trials; why and how to participate.

Small Group Sessions

Friday Night Social

Formal Lectures (Saturday, July 21, 2018)
Topics: Wrap up — this is what we learnt this week; next steps; practical resources

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