national mps society

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:
  • 1. Dr. White's personal experience and challenges as a parent and surgeon.
    2. Balancing care for the child's specialized needs and managing personal and professional life.
  • Supporting Non-Affected Siblings:
    1. Addressing the concerns of overshadowing and ensuring a sense of individuality and involvement for non-affected siblings.
    2. 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:
    1. Coping with the loss of a child with a rare disorder and the grief process.
    2. Keeping memories alive and celebrating the child's life through rituals, commemorations, and ongoing remembrance.
    3. 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). 

In this episode:

•  At 18 months of age, Olivia was diagnosed with Hurler Syndrome (MPS IH). She has always been an overcoming and has overcome every obstacle in her path, and now at 18 years old, she has the opportunity to go to college. 
• Today we talk about Olivia's first semester at college and her being a trailblazer. And her parents' experience being advocates for not only her life but her career.
• We talk about Olivia's high school experience and the joyful experience of getting into Mississippi State University.
• After falling in love with interior design after an elective in high school, she decided to go to Mississippi State University because their motto is "Family," and they take care of their students.
• Facing physical challenges in the classroom and after meeting with the disability resource center, Olivia started to fall behind because of a lack of accommodations.
• "I've been fighting for her life for 18 years, I never thought I would have to fight for her career." Jamie.
• After a frustrating meeting where Olivia was treated unfairly by college officials, Olivia left the meeting and called her parents and could not articulate what was happening. Her dad got in the car and started driving to the University. A parent's worst nightmare.

   Let Olivia know that she is not alone in this fight, use the hashtag #WriteForOlivia to encourage her.

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:

• Sheri Wise is a current member of the Society's board of directors.
• We discuss how great it is that there are more and more diagnoses in newborns and infants, but for us, it was later diagnosis and longer diagnostic journeys.
• "There wasn't much information about MPS before the internet, which was probably a good thing." ~ Sheri Wise
• Sheri was told she would live to 6 or maybe ten years old.
• Sheri grew up on a farm in rural Oklahoma, and Sheri remembers always wanting to go and do what others were doing, riding horses, going to the lake, etc.
• We talk about the life-changing event when we both were offered our first infusions.
• We discuss the frustration of boarding a new doctor when you have a rare disease, the learning curve required for them, and how you must advocate for yourself with doctors.
• From driving to dating, we discuss some challenges unique to being an adult with a disease largely treated by pediatricians. 
• "You just have to prepare for the things you know are coming. Be the best you can. And take one day at a time. And there's nothing wrong with that." ~ Sheri
• We talk about our hopes for newborn screening and how it will affect those diagnosed in the future.

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 are back talking with Mike Hu about Project GUARDIAN.
• Project GUARDIAN advocates for and supports sequencing based newborn screening to identify pre-symptomatic patients who can either benefit from early intervention using existing treatments or eligible for clinical trials of novel treatments, at a disease stage when treatment could be maximally efficacious.
• We discuss what genome sequencing is and the role it can play in diagnosis of rare diseases in the future.
• We also discussed epigenetic modifications that are specific to an individual.
• How is genomic sequencing different than mass spectrometry and how could it transform newborn screening? Mike unpacks his vision.
• When we talk about expansion of the newborn screening system, it is necessary to introduce new platforms that go beyond mass spectrometry, and genomic sequencing is a suitable one.
• We discuss the challenges introducing large scale sequence based newborn screening studies in the US. 

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:

• Two of Mike's sons have been diagnosed with MPS II Hunter Syndrome.
• Mike paraphrases Steve Jobs, "The dots you cannot connect them looking forward, you can only connect them looking backward," when describing his journey with how his education, research, and career ultimately collide with his family life.
• Mike was born and raised in China before moving to the US for a post graduate program at the University of Austin, where he studied Molecular Genetics.
• His first job was as a product developer for a genetic testing company developing products to diagnose genetic diseases.
• Mike shares the basics of the newborn screening process and how results can be interpreted.
• Mike describes his sons' diagnostic odysseys, and how newborn screening could have impacted that part of their journey with MPS.
• Newborn screening is essential to early diagnosis and treatment.  Awareness and education is important to public health.  
• Each state decides what is screened for on their panels, currently about half of the states screen for MPS I (some currently screen for MPS II, as well).  
• Mike stresses the importance of advocacy and encourages involvement with the National MPS Society Advocacy Committee.   

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:

• Kendra was born and raised in a small town in South Dakota, where her community nurtured her with inclusion and support.
• She has always been fascinated with psychology and sociology, leading her to pursue a degree from Augustana University.  
• When Kendra moved to a larger community and now advocating for herself. She has a deepened desire to pursue a career that serves people with disabilities. She has a passion for disability inclusion that is evident in her work, philanthropy, and creativity.
• She is the author of three published books and the founder of the nonprofit Rare by Design. 
• In today's episode, we discuss the importance of disability inclusion and how we can promote it in our own communities. 
• Kendra talks about what her experience was growing up being mainstreamed in school with 504 assistance and the role her mom played in leveling the playing field for her during school.
• For the past 11 years, Kendra has worked at the South Dakota Medical School Center for Disabilities.
• We talk about Kendra's perspective on disability inclusion in the workplace.
• There are so many ways to identify, describe, and honor the human experience. As we focus on and broaden our perspectives on those, who are marginalized, specifically those with disabilities, there are many terms and concepts to describe the disability and rare disease experience, and the language always changes. 
• Kendra tells the story of how she was a runway model in 2016 for Tommy Hilfiger in New York for the Runway of Dreams Foundation.
• We discuss her first book, Live Laugh Lemonade: A Journey of Choosing to Beat the Odds, and what was happening in her life when she wrote it. Her next book is a children's book called Kendra's Lemondate which she wrote to help kids and others understand disabilities. Her most recent book is Kendra's Perfect Dance Routine, about her dance experience as a child.

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 really like the podcast, we'd appreciate you telling a friend (maybe even two). 

On this episode:

• Annie, Morgan's daughter, was diagnosed about 10 years ago with MPS IIIA, also known as Sanfilippo IIIA. Children with MPS lack an enzyme that breaks down complex sugar molecules, which leads to progressive disease manifestations.
• Morgan shares her perspective on her daughter's initial diagnosis, including the initial encounter with an astute ENT doctor that had concern for an underlying genetic condition that would explain certain physical characteristics and developmental delays.  
• Morgan discusses some of the ways that her daughters MPS IIIA manifested itself before and after her diagnosis at 3 1/2 years old.
• We ask Morgan how she was able to get to a place of radical acceptance and live a joy filled life despite her daughter's Sanfilippo diagnosis.
• Morgan started an interior design company in an effort to find something outside the home for herself, while balancing the need to be home to care for her children. The experience empowered her to help other women find their way in the world of entrepreneurship.
• "I think if I was going to put a label on my life of what the biggest lesson has been through all of this, it has been how to be resilient in the face of extraordinary circumstances." ~ Morgan Motsinger
• Morgan wanted to share her experience and coping skills she learned with others and started a life coaching business.
• Both of Morgan's businesses provide support for special needs families.
• Caregivers seem to put themselves last, but Morgan gives practical advice on how to prioritize self-care and understand it is both important and worth the effort.
• Morgan highlights the importance of finding perspective and embracing personal responsibility and what that has looked like in her life.

Find out more about our guest and her businesses at https://sweetbeecoaching.com/ and https://annikainteriors.com/.

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 really like the podcast we'd appreciate you telling a friend (maybe even two). 

On this episode:

• Today's guest, Lisa Todd is the current chair of the National MPS Society.
• Lisa is a CPA, focusing on work with non-profits.
• Lisa heard about the National MPS Society in an email from a friend after receiving her son's diagnosis with the subject line H.O.P.E.
• Her son was diagnosed at 8.5 years old, which is a pretty late diagnosis. 
• She recalls the story of diagnosis and the moment she believes was fate or intervention that led to the diagnosis and kept them from a longer diagnostic odyssey.
• Lisa shares the story of attending her first conference and sits down next to a world renowned doctor who was able to offer her insight and hope.
• Lisa was approached at that same conference to consider joining the board, and she saw it as an opportunity to give back. She has now served on the board for more than 10 years.
• We discuss the importance of diversity on the board of the National MPS Society. Diversity in syndrome, skillset, gender, ethnic, and sexual orientation.
• We unpack the changes happening at the National MPS Society to address how many are living longer with their syndromes and how addressing the Society evolves past just emotional support.

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 really like the podcast we'd appreciate you telling a friend (maybe even two). 

On this episode:

• Steve Holland has an extraordinary history with the National MPS Society. He was one of the early leaders who helped guide the society from being focused primarily on family support to now its larger issues of advocacy, research, and finding a cure. 
• Steve shares some of his family's journey, and early diagnosis before treatments were available. 
• The society's humble beginnings in 1974 started with 10-12 MPS and ML parents who started meeting and formally showing support to one another and new diagnoses.  
• Barbara Wedehase was the first paid staff member and Director of the National MPS Society in 1999.
• Barbara shares about collaboration development with other rare disease organizations and pharmaceutical companies.  
• When Barabara started her work with the society, there were three companies with approved therapies, at the end of her tenure there were 25. The expansion has been stupendous. 
• Steve shares what it felt like the first time he realized that treatment would be available for his family and the hope he would bring to the rest of the community.
• We discuss the transition and metamorphosis from an organization primarily focused on family support for an incurable disease to an organization expanding their focus to help fund research, advocate for policy change, with the end goal of finding a cure.

Quotes:

"Back in 1994, at our first MPS conference, there were rumors of a pharmaceutical company that might be interested (in developing treatments), but it was like finding a unicorn. You heard about them, but you never really found them." - Steve Holland

"In many ways, we were able to turn from a kitchen table organization into a corporate table organization; and we were able to do that by relying on the skillset of the new board members and what they can bring to the organization." - Steve Holland

"If you don't have hope, what do you have?" - Barbara Wedenhase

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 really like the podcast we'd appreciate you telling a friend (maybe even two). 

On this episode:

• Stephanie interviews Dr. Emil Kakkis, MD, PhD and Ryan Dant about the trials and tribulations of bringing a much needed drug to patients in a community desperately hanging on to the hope of one day having treatment and eventually a cure.
• Dr. Kakkis is a physician and researcher with a relentless work ethic who embarks on one of the greatest challenges presented to the MPS community; finding a treatment for an incurable disease.  An incurable disease that afflicts children and adults, like Ryan Dant.   
• Saving Ryan was written by Dr. Kakkis to shine a light on the connection between families struggling to save their children and scientists at the beginning of their careers.  The book has many threads and perspectives, guiding readers through the drug development and FDA approval process.  
• Dr. Kakkis and Ryan Dant discuss their time together during clinical trials for Aldurazyme and the family-like relationship that they’ve developed.  
• Ryan speaks about what it was like as a young child in the spotlight and how receiving treatment has altered the course of his life.  
• Dr. Kakkis not only has an incredible empathy for his patients and the desire to make a difference in their lives, but he is also a leader in the rare disease community.  His experiences with drug development and the manufacturing of Aldurazyme led him to found a pharmaceutical company focused solely on treatment development for rare diseases.  In addition, he is the founder of a non-profit organization dedicated to advocating for legislative changes that will positively impact the lives of all rare disease patients.  

To purchase a copy of Saving Ryan, download the latest kindle version from Amazon!  Hardback available soon!

Quotes:

“What I didn’t appreciate was that the science may not be fancy, but is so powerful if it can change the future of the patients in front of you…if you don’t help anyone, you haven’t really done anything.” --Dr. Emil Kakkis, MD, PhD

“When I was younger my parents always told me to not let this disease defeat me, try to live a normal life the best that I can.” --Ryan Dant

Mentioned in this episode:
Aldurazyme
The Ryan Dant Story on 60 Minutes
The Ryan Dant Story in Reader's Digest
Ultragenyx
EveryLife Foundation

You may also be interested in:
The Ryan Foundation
Rarities
Impositivity

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 really like the podcast we'd appreciate you telling a friend (maybe even two). 

On this episode:

• Jason interviews Isabel Bueso (born Maria Isabel Bueso Barrera), a Guatemalan activist with MPS, living in the United States under deferred action.
• After receiving an unexpected threat of deportation which meant no longer receiving her life-saving treatment and having to leave the only life she knew, this young woman recognized something had to be done. Over a span of a few weeks her call to action was received with outpouring community support.
• She went from relative obscurity at the mercy of circumstances to speaking in front of an emergency subcommittee hearing in Congress. She not only advocated for herself, but for the entire rare disease community. 
• Her brave testimony has contributed to life-saving policy changes.
• Isabel shares her story of diagnosis and early treatment as a young child in the United States. 
• Isabel and her family relocated to California to continue her life-saving treatment.  Since they are not citizens, their status had to be renewed every three years to continue receive treatment in the US.
• One day, after an infusion, she received news that would change Isabel and her family's lives drastically. Their immigration status was denied and they were given 33 days to leave the country.
• Isabel describes how her journey felt from receiving the news about her immigration status to walking into Congress to tell her story.  An audience from both sides of the aisle she had only seen previously on television.  
• After her testimony to Congress, the 33-day deadline continue to approach.  Representatives put a hold on the deadline while they discussed it, and finally with much anticipation, decided to reverse the policy.  Isabel and those she advocated on their behalf were now able to stay and get the life-saving treatments they desperately needed.  

Mentioned on this episode:

• Isabel Bueso
• The Ryan Dant Story on 60 Minutes
• The Documentary Crip Camp | A Disability Revolution

Quotes:

"I had to go public. I made the decision to use my voice and advocate for myself and my family, but all the other people weren't going in the same thing." ~ Isabel

"I think that's such an incredible story. It's you know, hopefully, it inspires other people to know that their voices can be heard. They don't need to be scared and our system although flawed as it is, and as frustrating as it can be, does work at times." ~ Jason

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 really like the podcast we'd appreciate you telling a friend (maybe even two). 

On this episode:

• In this special Bonus Episode, we wanted to introduce the dedicated individuals that will be hosting the official podcast of the National MPS Society: Our Voices. 
• Terri Klein, Maureen Cote, Stephanie Cozine, and Jason Madison are here to talk about "This Mess Called MPS."
• Terri introduces the National MPS Society and explains what causes MPS and ML.
• These rare diseases collectively impact about 1 in 25,000 live births.
• Maureen shares her story of how her extended family members received an MPS VI diagnosis and when she knew she wanted to be a part of the National MPS Society's Board of Directors.  
• Jason shares his story of being diagnosed as a child and living with MPS II as an adult.
• Stephanie shares how her son was diagnosed with MPS I and how she came to find an inspiring community in the National MPS Society.   
• We discuss the hope that lives in this community and the vision we have for the podcast, Our Voices.  

Mentioned on this episode:

• The National MPS Society Website
• Annual Family Conference
• The Adult Resource Committee

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 really like the podcast we'd appreciate you telling a friend (maybe even two). 

Welcome to the National MPS Society: Our Voices podcast. This is such an exciting opportunity to bring the voices of community leaders, experts, and inspiring individuals to you. On your time, at your convenience from wherever you may be, whether that's home, in the hospital room, or even your morning commute. We will be taking a deep dive into life with MPS and ML, exploring topics such as clinical trials, treatment options, inspiring personal stories, addressing mental health and wellness, and so much more. Let's have a conversation about the courage, determination, and hope that brings our community together and leads us to brighter futures.