#41 Dwarfism with Colleen Gioffreda

“The most charming person I have ever met” is how our host Beth describes the guest in this episode, so you are in for a treat. We have the dynamic, charismatic Colleen Gioffreda! Colleen is the Clinical Operations Program Administrator for the Greenberg Center for Skeletal Dysplasias in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. She handles patient inquiries, coordinates the Little People of America (LPA) Medical Advisory Board clinics at the national conferences and regionals, provides school/social resources to patients and parents, and also manages budgets and databases. 

 

In her volunteer life, Colleen is LPA’s Adoption Coordinator, and has helped facilitate the adoptions of over 400 children with dwarfism for the past seventeen years. She is also the Chair of the LPA Conference Management Committee and is a member of LPA’s Medical Advisory Board. 

 

Colleen is lucky enough to answer to the name of ‘Mom’ to her four children, who also all happen to have achondroplasia, the most common form of dwarfism. She views having achondroplasia as an opportunity, and feels fortunate to have experienced such a unique and rich adventure in life. 

 

Since our Executive Producer, Kira Dineen, is also a genetic counselor, she joins as a guest host in this episode. 

 

Episode Highlights:

 

Understanding Terminology and Accommodations:

• Appropriate terms for individuals with achondroplasia and skeletal dysplasias.
• Vital accommodations for people with dwarfism in various aspects of life.

 

Home Modifications and Misconceptions:

• Recommended home alterations for individuals affected by dwarfism.
• Addressing misconceptions and stereotypes about dwarfism in her work.

 

Employment and Workplace Challenges:

• Employment roadblocks faced by little people and necessary workplace accommodations.

 

Career Path and Key Responsibilities:

• Colleen’s journey towards helping the skeletal dysplasia community.
• Key responsibilities in her role, including patient inquiries and coordinating medical advisory board clinics.

 

School and Social Resources:

• Providing school and social resources to patients and parents.
• Importance of this support in managing skeletal dysplasias.

 

Adoption Advocacy:

• Motivations for becoming involved in adoption advocacy.
• Experiences and insights from facilitating adoptions of children with dwarfism.
• Countries with higher frequencies of children with dwarfism waiting to be adopted.

 

LPA Conference Management:

• Involvement in the LPA Conference Management Committee and the significance of organizing conferences.
• Memorable and rewarding experiences supporting individuals and families.

 

Parental Support:

• Approaching support and resources for parents raising children with achondroplasia.

 

Community Advocacy and Medical Collaboration:

• Pressing issues within the dwarfism community and advocacy efforts.
• Response to FDA-approved treatment for achondroplasia (VOXZOGO® (vosoritide)) and differing viewpoints.
• Collaborating with medical professionals and researchers to advance understanding and treatment.

 

Personal and