Energy in Action by MitoAction

Meet Devin the Genetic Counselor and Mito Patient

ENERGY IN ACTION - EPISODE 063 Meet Devin the Genetic Counselor and Mito Patient   Devin Shuman is a Genetic Counselor based outside of Seattle, Washington. At age 16, she was diagnosed with Mitochondrial Depletion Syndrome (MDS).   EPISODE HIGHLIGHTS   How are you connected to the mito community? I was diagnosed with Mitochondrial Depletion Syndrome (MDS) at age 16. My brother went through the diagnostic odyssey and also has the same form of mito, so while I had symptoms my whole li...

Mary Morlino - Parenting with Sarcoidosis and Discussing the Global Genes 2022 RARE Patient Advocacy Summit

  PARENTS AS RARE - EPISODE 062 Mary Morlino - Parenting with Sarcoidosis & Discussing the Global Genes 2022 RARE Patient Advocacy Summit   Mary Morlino is the Rare Concierge Patient Services Manager at Global Genes. Mary and I will be speaking on a Parenting While Rare panel at the upcoming 2022 RARE Patient Advocacy Summit. The summit is one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies. Vi...

Mary Morlino - Parenting with Sarcoidosis and Discussing the Global Genes 2022 RARE Patient Advocacy Summit

  PARENTS AS RARE - EPISODE 062 Mary Morlino - Parenting with Sarcoidosis & Discussing the Global Genes 2022 RARE Patient Advocacy Summit   Mary Morlino is the Rare Concierge Patient Services Manager at Global Genes. Mary and I will be speaking on a Parenting While Rare panel at the upcoming 2022 RARE Patient Advocacy Summit. The summit is one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partner...

Jacob and CPEO Plus

ENERGY IN ACTION - EPISODE 061 Jacob Shinder and CPEO+   Jacob Shinder is a 22 year old college student who was diagnosed with CPEO+ at the age of 12. He joins us to talk about his experience and how it has shaped his goals for the future.    EPISODE HIGHLIGHTS   What is CPEO? Chronic progressive external ophthalmoplegia (CPEO) is a drooping of the eyelids. I have CPEO+ which also causes overall body weakness, affecting my stomach and bowels, muscles and brain.    What symptoms wer...

Jacob and CPEO Plus

ENERGY IN ACTION - EPISODE 061 Jacob Shinder and CPEO+   Jacob Shinder is a 22 year old college student who was diagnosed with CPEO+ at the age of 12. He joins us to talk about his experience and how it has shaped his goals for the future.    EPISODE HIGHLIGHTS   What is CPEO? Chronic progressive external ophthalmoplegia (CPEO) is a drooping of the eyelids. I have CPEO+ which also causes overall body weakness, affecting my stomach and bowels, muscles and brain.    ...

Meet the Bartles

ENERGY IN ACTION - EPISODE 060 Meet the Bartels   Jake and Cami Bartle have been married for three years and they join us to share their rare disease experience and how the diagnosis has affected them as a young couple.   EPISODE HIGHLIGHTS   Cami, what is it like to be married to someone with a rare disease? We didn't know that Jake had mitochondrial disease until 5 months after we were married. He had a seizure, was in the hospital and he received a diagnosis. Having a sudden diagn...

Meet the Bartles

ENERGY IN ACTION - EPISODE 060 Meet the Bartels   Jake and Cami Bartle have been married for three years and they join us to share their rare disease experience and how the diagnosis has affected them as a young couple.   EPISODE HIGHLIGHTS   Cami, what is it like to be married to someone with a rare disease? We didn't know that Jake had mitochondrial disease until 5 months after we were married. He had a seizure, was in the hospital and he received a diagnosis. Havi...

Owning My Story

  PARENTS AS RARE - EPISODE 059 Owning My Story    Adam Johnson's world was turned upside down when he went from being a healthy 35 year old with an exciting path ahead, to a 35 year old with a rare disease that left him wondering what could have been. It's his story and he owns it and he adds to it through rare disease advocacy. As a self-proclaimed dadvocate, he learned to own his story through blogging, podcasting and sharing on social media.    EPISODE HIGHLIGHTS   In the early s...

Owning My Story

  PARENTS AS RARE - EPISODE 059 Owning My Story    Adam Johnson's world was turned upside down when he went from being a healthy 35 year old with an exciting path ahead, to a 35 year old with a rare disease that left him wondering what could have been. It's his story and he owns it and he adds to it through rare disease advocacy. As a self-proclaimed dadvocate, he learned to own his story through blogging, podcasting and sharing on social media.    EPISODE HIGHLIGHTS ...

Life with Leigh's

ENERGY IN ACTION - EPISODE 058 Life with Leigh’s   Krista Price is the mom of two children with Leigh's Syndrome. She shares her diagnosis journey and speaks to the importance of trusting your gut as a parent and advocating for your children to get answers.    EPISODE HIGHLIGHTS   Can you tell us about your mitochondrial disease journey? My daughter Ellie is 8 and my son Henry is 6. Ellie started having developmental issues when she was four months old, mainly delaye...

Life with Leigh's

ENERGY IN ACTION - EPISODE 058 Life with Leigh’s   Krista Price is the mom of two children with Leigh's Syndrome. She shares her diagnosis journey and speaks to the importance of trusting your gut as a parent and advocating for your children to get answers.    EPISODE HIGHLIGHTS   Can you tell us about your mitochondrial disease journey? My daughter Ellie is 8 and my son Henry is 6. Ellie started having developmental issues when she was four months old, mainly delayed in meeting mile...

TJ Strong

ENERGY IN ACTION - EPISODE 057 TJ Strong   Jackie Bautz is the sibling to TJ, who has a mitochondrial disease called MELAS. She shares the story about her brother's diagnosis and what her family is doing to raise awareness and push for a cure.    EPISODE HIGHLIGHTS   Can you tell us about your family and your brother's diagnosis? I come from a family with five siblings including myself and my younger brother TJ, who is 7 years younger. When TJ was born, he had failure to thrive issue...

TJ Strong

ENERGY IN ACTION - EPISODE 057 TJ Strong   Jackie Bautz is the sibling to TJ, who has a mitochondrial disease called MELAS. She shares the story about her brother's diagnosis and what her family is doing to raise awareness and push for a cure.    EPISODE HIGHLIGHTS   Can you tell us about your family and your brother's diagnosis? I come from a family with five siblings including myself and my younger brother TJ, who is 7 years younger. When TJ was born, he had failur...

Chris Freeman - Chronic Pain Dad

Chris Freeman - Chronic Pain Dad

Top 10 Tips for Empowerment & Being Your Own Advocate

  ENERGY IN ACTION - EPISODE 051 Top 10 Tips for Empowerment & Being Your Own Advocate   Cristy Balcells is the Associate Director of Patient Advocacy and Public Policy for Zogenix and the mother of Eva, who has Leigh Syndrome, a type of mitochondrial disease. Christy joins me for a conversation around empowerment and shares her list of 10 tips for being a great mitochondrial disease advocate for yourself or someone you care for.    EPISODE HIGHLIGHTS   Become an expert in your own ...

Top 10 Tips for Empowerment & Being Your Own Advocate

  ENERGY IN ACTION - EPISODE 051 Top 10 Tips for Empowerment & Being Your Own Advocate   Cristy Balcells is the Associate Director of Patient Advocacy and Public Policy for Zogenix and the mother of Eva, who has Leigh Syndrome, a type of mitochondrial disease. Christy joins me for a conversation around empowerment and shares her list of 10 tips for being a great mitochondrial disease advocate for yourself or someone you care for.    EPISODE HIGHLIGHTS   Become an ex...

Dr. Stephanie Mihalas - Find Your Balance, Find Your Center

  PARENTS AS RARE - EPISODE 055 Dr. Stephanie Mihalas - Find Your Balance, Find Your Center   Dr. Stephanie Mihalas is a licensed psychologist, nationally certified school psychologist and a mental health and chronic illness advocate. She's also a rare disease mom and she has a lot of valuable insight to share with parents.   EPISODE HIGHLIGHTS   Can you introduce yourself and tell us where your rare disease journey began? I'm a psychologist and mental health and ch...

Dr. Stephanie Mihalas - Find Your Balance, Find Your Center

  PARENTS AS RARE - EPISODE 055 Dr. Stephanie Mihalas - Find Your Balance, Find Your Center   Dr. Stephanie Mihalas is a licensed psychologist, nationally certified school psychologist and a mental health and chronic illness advocate. She's also a rare disease mom and she has a lot of valuable insight to share with parents.   EPISODE HIGHLIGHTS   Can you introduce yourself and tell us where your rare disease journey began? I'm a psychologist and mental health and chronic advocate in...

Advocate Like a Father

ENERGY IN ACTION - EPISODE 054 Advocate Like a Father   David Faughn shares his story about his daughter Katherine, how his family became part of the mitochondrial disease community and about the advocacy work he's doing in his home state of Kentucky.    EPISODE HIGHLIGHTS   Tell us about your daughter Katherine and her diagnosis journey. Katherine hit all of the typical milestones for the first six months after she was born. At almost a year old, when we were expecting she'd be walk...

Advocate Like a Father

ENERGY IN ACTION - EPISODE 054 Advocate Like a Father   David Faughn shares his story about his daughter Katherine, how his family became part of the mitochondrial disease community and about the advocacy work he's doing in his home state of Kentucky.    EPISODE HIGHLIGHTS   Tell us about your daughter Katherine and her diagnosis journey. Katherine hit all of the typical milestones for the first six months after she was born. At almost a year old, when we were expect...

Finding Help with the Cost of Medications

  ENERGY IN ACTION - EPISODE 053 Finding Help with the Cost of Medications   Carla Dellaporta is the Director of User Engagement for NeedyMeds, a 501(c)(3) national non-profit that connects people to programs that will help them afford their medications and other healthcare costs.    EPISODE HIGHLIGHTS   What is NeedyMeds? NeedyMeds is a national non-profit with a mission to educate and empower those seeking affordable healthcare. We're here to connect people, free and anonymously, ...

Finding Help with the Cost of Medications

  ENERGY IN ACTION - EPISODE 053 Finding Help with the Cost of Medications   Carla Dellaporta is the Director of User Engagement for NeedyMeds, a 501(c)(3) national non-profit that connects people to programs that will help them afford their medications and other healthcare costs.    EPISODE HIGHLIGHTS   What is NeedyMeds? NeedyMeds is a national non-profit with a mission to educate and empower those seeking affordable healthcare. We're here to connect people, free ...

Lisa Weinberger - Be Your Own Advocate, Listen To Your Body, Take Control of Your Health, & Ask Questions

  PARENTS AS RARE - EPISODE 052 Lisa Weinberger - Be Your Own Advocate, Listen To Your Body, Take Control of Your Health, & Ask Questions   Lisa Weinberger is a wife, mother, digital marketing professor and business owner with over 20 years of experience designing and leading corporate marketing programs. We talk in this episode about balancing work and family while living in the world of rare disease and chronic illness.    EPISODE HIGHLIGHTS   When you were navigating a diagnosis, ...

Lisa Weinberger - Be Your Own Advocate, Listen To Your Body, Take Control of Your Health, & Ask Questions

  PARENTS AS RARE - EPISODE 052 Lisa Weinberger - Be Your Own Advocate, Listen To Your Body, Take Control of Your Health, & Ask Questions   Lisa Weinberger is a wife, mother, digital marketing professor and business owner with over 20 years of experience designing and leading corporate marketing programs. We talk in this episode about balancing work and family while living in the world of rare disease and chronic illness.    EPISODE HIGHLIGHTS   When you were navigat...

Top 10 Tips for Empowerment and Being Your Own Advocate

  ENERGY IN ACTION - EPISODE 051 Top 10 Tips for Empowerment & Being Your Own Advocate   Cristy Balcells is the Associate Director of Patient Advocacy and Public Policy for Zogenix and the mother of Eva, who has Leigh Syndrome, a type of mitochondrial disease. Christy joins me for a conversation around empowerment and shares her list of 10 tips for being a great mitochondrial disease advocate for yourself or someone you care for.    EPISODE HIGHLIGHTS   Become an ex...

You Never Give Up Hope in Life

  ENERGY IN ACTION - EPISODE 050 You Never Give Up Hope in Life   Devon Gottfurcht shares her experience and journey with a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). Her message is one of redirection, personal advocacy, perseverance and never giving up hope.  EPISODE HIGHLIGHTS   When did you first experience symptoms? It started with extremely dry eyes, light sensitivity, infections and other eye issues. Initially my eye doctor wasn't sure wha...

You Never Give Up Hope in Life

  ENERGY IN ACTION - EPISODE 050 You Never Give Up Hope in Life   Devon Gottfurcht shares her experience and journey with a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). Her message is one of redirection, personal advocacy, perseverance and never giving up hope.  EPISODE HIGHLIGHTS   When did you first experience symptoms? It started with extremely dry eyes, light sensitivity, infections and other eye issues. Initially my eye docto...

Living Rare - An Adult's Perspective

  ENERGY IN ACTION - EPISODE 049 Living Rare - An Adult's Perspective   Fred Jacobowitz has been diagnosed with Carnitine Palmitoyltransferase Type II (CPT-II/CPT2) Deficiency, a type of fatty acid oxidation disorder. He shares his diagnosis experience, lessons learned and what his rare disorder journey has been like.    EPISODE HIGHLIGHTS   When did your CPT2 symptoms begin? I had difficulty keeping up with other kids when I was young. In high school, I excelled in the sport of swi...

Living Rare - An Adult's Perspective

  ENERGY IN ACTION - EPISODE 049 Living Rare - An Adult's Perspective   Fred Jacobowitz has been diagnosed with Carnitine Palmitoyltransferase Type II (CPT-II/CPT2) Deficiency, a type of fatty acid oxidation disorder. He shares his diagnosis experience, lessons learned and what his rare disorder journey has been like.    EPISODE HIGHLIGHTS   When did your CPT2 symptoms begin? I had difficulty keeping up with other kids when I was young. In high school, I excelled in...

Parenting & Living Life With Chronic Pain - Ross McCreery

  PARENTS AS RARE - EPISODE 048 Parenting & Living Life With Chronic Pain - Ross McCreery    Ross McCreery is a dad, husband, advocate, writer and speaker. In 2006, Ross was diagnosed with a rare disease called Complex Regional Pain Syndrome (CRPS). In 2016 he founded CRPS Awareness Day in Saskatchewan to educate the public and raise awareness for those living with the disease. Ross also serves as a board member for the SaskPain Foundation where he hopes to help improve and change the li...

Parenting & Living Life With Chronic Pain - Ross McCreery

  PARENTS AS RARE - EPISODE 048 Parenting & Living Life With Chronic Pain - Ross McCreery    Ross McCreery is a dad, husband, advocate, writer and speaker. In 2006, Ross was diagnosed with a rare disease called Complex Regional Pain Syndrome (CRPS). In 2016 he founded CRPS Awareness Day in Saskatchewan to educate the public and raise awareness for those living with the disease. Ross also serves as a board member for the SaskPain Foundation where he hopes to help improve ...

The Strength of a Mom

  ENERGY IN ACTION - EPISODE 047 The Strength of a Mom   Tonie DeLorenze is impacted by mitochondrial disease herself and also has three children with mitochondrial disease.   EPISODE HIGHLIGHTS   What has your journey been like with mitochondrial disease? I was an athlete in high school, but always had issues with breathing and lung capacity. As I got older, more symptoms developed, all related to my endocrine system. I had twins in 1995, had another child in 1997 ...

The Strength of a Mom

  ENERGY IN ACTION - EPISODE 047 The Strength of a Mom   Tonie DeLorenze is impacted by mitochondrial disease herself and also has three children with mitochondrial disease.   EPISODE HIGHLIGHTS   What has your journey been like with mitochondrial disease? I was an athlete in high school, but always had issues with breathing and lung capacity. As I got older, more symptoms developed, all related to my endocrine system. I had twins in 1995, had another child in 1997 and another in 20...

Parents as Rare - Family Coping, Communication, & Mental Health Resources - Dr. Jennifer Young, Postdoctoral Scholar, Biomedical Ethics - Stanford University

  PARENTS AS RARE - EPISODE 046 Family Coping, Communication, & Mental Health Resources - Dr. Jennifer Young, Postdoctoral Scholar, Biomedical Ethics - Stanford University   Dr. Jennifer Young is a trained marriage and family therapist who has focused her research on families with rare genetic conditions. Her goal is to improve family coping, communication, and access to mental health resources for the rare disease community, especially for the under-served.    EPISODE...

Parents as Rare - Family Coping, Communication, & Mental Health Resources - Dr. Jennifer Young, Postdoctoral Scholar, Biomedical Ethics - Stanford University

  PARENTS AS RARE - EPISODE 046 Family Coping, Communication, & Mental Health Resources - Dr. Jennifer Young, Postdoctoral Scholar, Biomedical Ethics - Stanford University   Dr. Jennifer Young is a trained marriage and family therapist who has focused her research on families with rare genetic conditions. Her goal is to improve family coping, communication, and access to mental health resources for the rare disease community, especially for the under-served.    EPISODE HIGHLIGHTS   C...

Live Life, Dream Big, Be Positive

  ENERGY IN ACTION - EPISODE 045 Live Life, Dream Big, Be Positive   Stacy and Ari Goldberg share the story of their Mito Warrior. Rina lived an authentic be-positive life. She faced multiple medical challenges with resiliency and left a legacy of an award-winning film, The Magic Bracelet.   EPISODE HIGHLIGHTS   Can you tell us about Rina's mito journey? Rina had medical difficulties from the time she was born. She experienced fevers, overheating, developmental delays, low muscle to...

Live Life, Dream Big, Be Positive

  ENERGY IN ACTION - EPISODE 045 Live Life, Dream Big, Be Positive   Stacy and Ari Goldberg share the story of their Mito Warrior. Rina lived an authentic be-positive life. She faced multiple medical challenges with resiliency and left a legacy of an award-winning film, The Magic Bracelet.   EPISODE HIGHLIGHTS   Can you tell us about Rina's mito journey? Rina had medical difficulties from the time she was born. She experienced fevers, overheating, developmental dela...

Removing Barriers in Ultra-Rare

  ENERGY IN ACTION - EPISODE 044 Removing Barriers in Ultra-Rare   Joining me in this episode are Desiree Magee & Ashley Rowland of CureARS, a non-profit organization dedicated to spreading awareness, connecting & providing support to affected families and funding research for the ultra-rare Mitochondrial ARS genes.   EPISODE HIGHLIGHTS   Desiree, can you introduce yourself and tell us how you're connected to the mitochondrial disease community? My 6 year old daughter Daphne was dia...

Removing Barriers in Ultra-Rare

  ENERGY IN ACTION - EPISODE 044 Removing Barriers in Ultra-Rare   Joining me in this episode are Desiree Magee & Ashley Rowland of CureARS, a non-profit organization dedicated to spreading awareness, connecting & providing support to affected families and funding research for the ultra-rare Mitochondrial ARS genes.   EPISODE HIGHLIGHTS   Desiree, can you introduce yourself and tell us how you're connected to the mitochondrial disease community? My 6 year old daught...

Parents as Rare - Cowden Syndrome and Male Mental Health - David Ross

  PARENTS AS RARE - EPISODE 043 Cowden Syndrome & Male Mental Health - David Ross   David Ross is a rare disease leader in men’s mental health. He plans and hosts valuable international support calls focused on men's mental health in the rare disease community. David is also a dad with a rare disease called Cowden Syndrome.    EPISODE HIGHLIGHTS   How did finding out about your disease shape your relationship with your daughter? I felt I wasn't supportive enough to ...

Parents as Rare - Cowden Syndrome and Male Mental Health - David Ross

  PARENTS AS RARE - EPISODE 043 Cowden Syndrome & Male Mental Health - David Ross   David Ross is a rare disease leader in men’s mental health. He plans and hosts valuable international support calls focused on men's mental health in the rare disease community. David is also a dad with a rare disease called Cowden Syndrome.    EPISODE HIGHLIGHTS   How did finding out about your disease shape your relationship with your daughter? I felt I wasn't supportive enough to my mother when sh...

Empowering Parents Nationwide

  ENERGY IN ACTION - EPISODE 042 Empowering Parents Nationwide   Marsha Quinn is the parent of two children who have Autism. As the Co Executive Director for Parent to Parent USA, she joins us to share the organization's mission and the resources they provide to parents of children with disabilities.   EPISODE HIGHLIGHTS   Can you tell us about Parent to Parent USA? Parent to Parent USA was started about 50 years ago with a group of moms in Nebraska who wanted to pr...

Empowering Parents Nationwide

  ENERGY IN ACTION - EPISODE 042 Empowering Parents Nationwide   Marsha Quinn is the parent of two children who have Autism. As the Co Executive Director for Parent to Parent USA, she joins us to share the organization's mission and the resources they provide to parents of children with disabilities.   EPISODE HIGHLIGHTS   Can you tell us about Parent to Parent USA? Parent to Parent USA was started about 50 years ago with a group of moms in Nebraska who wanted to provide parents of ...

EveryLife Foundation Newborn Screening

  ENERGY IN ACTION - EPISODE 041 EveryLife Foundation Newborn Screening   The EveryLife Foundation is dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policies that advance the equitable development of treatments, cures and life-saving diagnoses. Claire Ellis and Dylan Simon join me to discuss the importance of the Newborn Screening Saves Lives Reauthorization Act. Many rare disease patients are found through the newborn...

EveryLife Foundation Newborn Screening

  ENERGY IN ACTION - EPISODE 041 EveryLife Foundation Newborn Screening   The EveryLife Foundation is dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policies that advance the equitable development of treatments, cures and life-saving diagnoses. Claire Ellis and Dylan Simon join me to discuss the importance of the Newborn Screening Saves Lives Reauthorization Act. Many rare disease patients are found th...

Silver Linings with Sarah Kate

  ENERGY IN ACTION - EPISODE 040 Silver Linings with Sarah Kate   Sarah Kate Frey is a mitochondrial disease patient who is always looking on the bright side, seeking silver linings in the darkest experiences. She is the author of Alice Eloise’s Silver Linings: The Story of a Silly Service Dog and is in the process of writing a second book about her friend and service dog, a doodle named Alice Eloise.   EPISODE HIGHLIGHTS   How are you connected to the mito world? L...

Silver Linings with Sarah Kate

  ENERGY IN ACTION - EPISODE 040 Silver Linings with Sarah Kate   Sarah Kate Frey is a mitochondrial disease patient who is always looking on the bright side, seeking silver linings in the darkest experiences. She is the author of Alice Eloise’s Silver Linings: The Story of a Silly Service Dog and is in the process of writing a second book about her friend and service dog, a doodle named Alice Eloise.   EPISODE HIGHLIGHTS   How are you connected to the mito world? Like a lot of pati...

Chronically Simple and Simply Unbreakable - Kristy Dickinson

  PARENTS AS RARE - EPISODE 039 Chronically Simple & Simply Unbreakable - Kristy Dickinson   Kristy Dickinson is a wife and mother of three, navigating life with multiple rare diseases. She's the founder of Chronically Simple, a digital health app that empowers patients and allows them to take control over their healthcare. She writes a blog and also co-hosts a podcast called Simply Unbreakable.   EPISODE HIGHLIGHTS   Can you share a bit about yourself? I am a rare disease patient w...

Chronically Simple and Simply Unbreakable - Kristy Dickinson

  PARENTS AS RARE - EPISODE 039 Chronically Simple & Simply Unbreakable - Kristy Dickinson   Kristy Dickinson is a wife and mother of three, navigating life with multiple rare diseases. She's the founder of Chronically Simple, a digital health app that empowers patients and allows them to take control over their healthcare. She writes a blog and also co-hosts a podcast called Simply Unbreakable.   EPISODE HIGHLIGHTS   Can you share a bit about yourself? I am a rare ...