National MPS Society: Our Voices Podcast Cary

Show Introduction:


The host introduces the National MPS Society's Our Voices Podcast for the second season, focusing on unmet needs and areas requiring more MPS and ML community support.
Emphasizes the lack of knowledgeable physicians in rare disorders like MPS and ML, leading to dismissive attitudes and missed treatment opportunities.
Interview Introduction:
The host, Jason Madison, introduces Dr. Klane White, a pediatric orthopedic surgeon specializing in skeletal dysplasia, metabolic bone disease, spinal deformity, and genetics.
Dr. White is an MPS parent who has navigated the challenges of caring for a child with a rare, life-threatening disease.


Interview Topics:

Navigating Life and Career with a Child with a Rare Disorder:

Dr. White's personal experience and challenges as a parent and surgeon.
Balancing care for the child's specialized needs and managing personal and professional life.

Supporting Non-Affected Siblings:
Addressing the concerns of overshadowing and ensuring a sense of individuality and involvement for non-affected siblings.
Utilizing support from friends, family, and the community to help provide attention and engagement for non-affected siblings.


Dealing with Grief and Honoring the Legacy:
Coping with the loss of a child with a rare disorder and the grief process.
Keeping memories alive and celebrating the child's life through rituals, commemorations, and ongoing remembrance.
Establishing a foundation or initiative to give back in the child's name, supporting other children with chronic, life-threatening diseases.




Conclusion:
Expressing gratitude for the support received from the MPS community and emphasizing the importance of reaching out for help.
Highlighting the power of connections formed with other families and professionals during the journey.
Encouraging listeners to cherish and remember the lives of their loved ones and find meaningful ways to honor their legacies

The focus of the second season: Unmet needs and areas requiring more support in the MPS and ML community
Goal: Explore resources, provide guidance, and start conversations about meeting these needs
Guest: Dr. Mary Kate LoPiccolo, Medical Biochemical Genetics Fellow.
Discussion on the lack of specialized genetic doctors and researchers in regional healthcare networks and the challenges of replacing retiring or relocating specialists
Dr. Mary Kate's educational path: Four years of medical school, followed by specialization in pediatrics, then two years of medical genetics training, and one year of biochemical, genetic-specific training
Biochemical genetics: Deals with genetic disorders affecting metabolism and biochemistry, such as MPS and ML
Dr. Mary Kate's interest in rare diseases and the experience that led her to biochemical genetics
Limited emphasis on biochemical genetics during medical school
Dr. Mary Kate's first patient encounter in the pediatric genetics clinic, working with a family transitioning care for a child with severe MPS II
Challenges faced by the family in accessing services and support in a rural area
Role of fellows in patient care, working under the supervision of attending physicians
Importance of open communication between families and healthcare professionals
Learning to deliver difficult news with empathy and gauging family expectations
Emphasis on being straightforward and honest with families, even when delivering challenging news
Insights into the field of biochemical genetics, the journey to becoming a specialist, and the dedication required to provide optimal care and support to patients and families.

Stephanie Cozine introduces Mark Dant as the founder and volunteer executive director of the Ryan Foundation, and former board chair of the Every Life Foundation for Rare Diseases, and former president and CEO of the National NPS Society.
Mark and his wife founded the Ryan Foundation in 1992 after their son, Ryan, was diagnosed with MPS I.
The Ryan Foundation has funded millions in research and was instrumental in the development of Aldurazyme, the first and only FDA approved drug for the treatment of MPS I.
Mark and his family have been key advocates and successfully championed the passing of the Ryan Dan Healthcare Opportunity Act in the US House of Representatives in 2009.
Mark is a former police officer and retired as an Assistant Chief of Police in 2016, and now spends his time volunteering for the Ryan Foundation and other rare disease nonprofits.
Stephanie and Mark talk about his experience as a parent of a child with MPS and the journey of advocacy and research.
Mark explains how times were different when Ryan was diagnosed, with no biotech companies, limited research, and no hope.
Mark shares how he learned about the disease and did research through library visits and phone calls, and how he eventually found a rare disease conference in Denver.
Mark remembers a specific moment at the conference when he realized the urgency to change the situation for children with rare diseases.
The Ryan Foundation
The  National MPS Society exists to cure, support, and advocate for MPS and ML.
If you like Our Voices, visit our website and follow us on social media on Facebook, Instagram, Twitter, and LinkedIn. And if you like the podcast, we'd appreciate you telling a friend (maybe even two). 

In this episode:

We go over what we've learned and experienced during the first season of "Our Voices."
We share some behind the scenes info about the pre-interview process and meeting people we've admired in our community.
We are fortunate to have many community leaders and pioneers come onto the podcast that has inspired us as parents, friends, and volunteers.
Advocating for others is a key part of the MPS Society and the podcast has allowed us a platform to advocate, in the case of one episode, in real time like in the case Olivia where we interviewed her parents about her first-year experience has been unnecessarily challenging because the college has done little to nothing to accommodate her needs.
We are excited about the new season, guests, and topics we will get to talk about this year.
Contact us if you'd like to suggest a topic, speaker, or story for an upcoming episode.
The  National MPS Society exists to cure, support, and advocate for MPS and ML.
If you like Our Voices, visit our website and follow us on social media on Facebook, Instagram, Twitter, and LinkedIn. And if you like the podcast, we'd appreciate you telling a friend (maybe even two). 

In this episode:

Fanny shares her diagnostic journey to her diagnosis. She is from a large family in Chicago. 
A large family meant a lot of family gatherings for Fanny, and she refused to let her mobility issues keep her from them. This is an issue that affects a lot of people with mobility issues, especially during the holiday season.
With her mother not speaking English, when Fanny was a child, she learned early to advocate for herself as she translated for her mother during doctor appointments.
Fanny shares her experience during college. She knew a large campus would be impossible for her, so she found a college in Texas where the building was only three floors and not as expansive as other campuses. 
She shares about overcoming other people's perceptions. And how she learned to overcome her embarrassment of using a wheelchair.
The  National MPS Society exists to cure, support, and advocate for MPS and ML.
If you like Our Voices, visit our website and follow us on social media on Facebook, Instagram, Twitter, and LinkedIn. And if you like the podcast, we'd appreciate you telling a friend (maybe even two). 
     

Jamie Lipscomb is the father of Olivia, who has MPS I. After a lifetime of overcoming, Olivia was finally ready to go to college. Her first-year experience has been unnecessarily challenging because the college has done little to nothing to accommodate her needs. We talk about what is being done and what can be done to prevent this from happening to another student.