ONCE UPON A GENE - EPISODE 144 Summer Surfing - Get On Top of the IEP Wave - Things You Can Do This Summer to Make Next Year Better with Gay Grossman Gay Grossman is the co-founder of ADCY5.org and she's a mom to her 25 year old daughter Lilly who lives with a rare disease. She's been an advocate for everyone in the rare disease community for over 20 years. She shares her knowledge with us about IEP's and how to be the fiercest, most equipped advocates we can be. EPISODE HIGHLIGHTS What is the d...
Jul 21, 2022•50 min•Ep. 144
ONCE UPON A GENE - EPISODE 148 A Rare Collection - I Will Never Forget There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Elli Brimble As a researcher and genetic counselor, I work behind the scenes to help families craft their own stories. I met Nasha Fitter in 2016 when her daughter developed infantile spasms during a family vacation,...
Jul 14, 2022•17 min•Ep. 148
Intro music by Scott Holmes
Jul 12, 2022•5 min
ONCE UPON A GENE - EPISODE 142 Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza Yosr Hamza is a lawyer, caregiver, and mom and she joins us to talk about what it's like to be a parent to a child with a rare disease in the Middle East, where rare disease isn't as accepted or normalized. EPISODE HIGHLIGHTS How have you navigated having a child with a rare disease and discovered your powerful voice to embrace your child? For an entire year,...
Jul 07, 2022•36 min•Ep. 142
ONCE UPON A GENE - EPISODE 141 A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa Laura Dellicker is a hardworking mom who adopted a little boy named Salim four years ago. Salim has a rare disease called Epidermolysis Bullosa (EB). Laura shares her story of rare disease adoption and what inspired her decision. EPISODE HIGHLIGHTS Can you tell us about Salim? My son Salim is 7 years old and he has two unrelated genetic conditions. I adopted Salim ...
Jun 30, 2022•27 min•Ep. 141
Intro music by Scott Holmes
Jun 28, 2022•5 min
ONCE UPON A GENE - EPISODE 140 Picking the Brain of a Rare Disease Dad - with CTNNB1 Dadvocate - Casey Parks CTNNB1 Dadvocate Casey Parks, is back to talk about life and how things are going so far in 2022. EPISODE HIGHLIGHTS Can you share about your career and how you show up for that in addition to being a dad? I'm a senior deputy prosecuting attorney and I ask juries to convict criminals of the crimes they've committed. I currently work in the county domestic violence department and deal most...
Jun 23, 2022•28 min•Ep. 140
ONCE UPON A GENE - EPISODE 139 A Rare Collection - Remember Who You Are There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Madeleine Oudin When her daughter Margo was born, Madeleine couldn't wait to take her on adventures across the world. As Margo's due date approached, Madeleine had already applied for her passport and received it by...
Jun 16, 2022•25 min•Ep. 139
Intro music by Scott Holmes
Jun 14, 2022•6 min
ONCE UPON A GENE - EPISODE 138 When Your Child is Facing the Most Severe Form of Human Epilepsy You Fight Until the Death - Literally - Chelsea's Hope Lafora Children Research Fund with Niki Markou and Jenifer Merriam Jenifer Merriam and Niki Markou are courageous moms, serving on the Board of Directors for Chelsea's Hope Lafora Research Fund. Lafora disease is a severe, progressive, fatal form of epilepsy that manifests in teens. They share what it's like to cope with a child's suffering with a...
Jun 09, 2022•36 min•Ep. 138
ONCE UPON A GENE - EPISODE 137 Advancing Therapies for Rare Liver Diseases and Alagille Syndrome with FDA Approved LIVMARLI with Chris Peetz - CEO of Mirum Pharmaceuticals Chris Peetz is the CEO of Mirum Pharmaceuticals, a pharmaceutical company focused on rare liver diseases. They work closely with patients and advocacy groups and have genuine connections which reinforces their sense of urgency to create treatments for liver-related diseases and help to make lives better. EPISODE HIGHLIGHTS How...
Jun 02, 2022•31 min•Ep. 137
Intro music by Scott Holmes
May 31, 2022•3 min
ONCE UPON A GENE - EPISODE 136 The Value of Intensive Therapy for Kids with Disabilities with Jessie Cline and Erin Garrison of Climb Intensive Pediatric Therapy Jessie Cline is the Founder of Climb Intensive Pediatric Therapy and Erin Garrison is a Physical Therapist. Sometimes when you need something done (or always in the world of rare disease) you have to do it yourself. Together, Jessie and Erin have joined forces to offer physical therapy and dynamic movement intervention (DMI) services to...
May 26, 2022•35 min•Ep. 136
ONCE UPON A GENE - EPISODE 135 A Rare Collection - Up at Night There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Mike Gralia, Dad to Tony and Founder of the Syngap Research Fund Mike recalls the nights insomnia kept him awake, looking at Tony as he rested, and wondering what his life would hold. In the darkness of night, his fears had ...
May 19, 2022•25 min•Ep. 135
Intro music by Scott Holmes
May 17, 2022•5 min
ONCE UPON A GENE - EPISODE 134 The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease Alison Breitbarth's son was the first baby in the state of Indiana to be screened for Pompe Disease and receive a positive result. She joins me to talk about the importance of newborn screening. EPISODE HIGHLIGHTS Where does your diagnosis journey begin? Ten days after my son Grant was born, I received a call about results from his newborn screening that indicated he was...
May 12, 2022•37 min•Ep. 134
Intro music by Scott Holmes
May 03, 2022•5 min
ONCE UPON A GENE - EPISODE 132 Rare Disease Caregiving Post Childhood with Rare Mom and Advocate Karen McEwen Karen McEwen has an 18 year old daughter with laryngeal cleft primary ciliary dyskinesia (PCD). Her and her daughter have been active advocates through speaking, writing and support groups. They're also fundraising for the PCD Foundation and working to get a PCD clinic at major hospitals in every state. EPISODE HIGHLIGHTS Tell us about your family and your daughter Elana. My daughter Ela...
Apr 28, 2022•40 min•Ep. 132
ONCE UPON A GENE - EPISODE 131 Kelley Coleman - Author of You will Feel Better - A Guidebook for Rare Disease Parents Kelley Coleman is a mom and writer who is creating a series of books and other helpful resources for parents who are raising kids with disabilities. Be sure to tune in if you've been thinking about adding a service dog to your family because Kelley shares her experience of growing their family by one service dog named Heddie. EPISODE HIGHLIGHTS Can you tell us about your upcoming...
Apr 21, 2022•34 min•Ep. 131
Intro music by Scott Holmes
Apr 19, 2022•5 min
ONCE UPON A GENE - EPISODE 130 A Rare Collection - Penny for your Thoughts There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Drie Barr, Physical Therapist A physical therapist is a movement therapist, an expert in body mechanics, movement pattern and providing diagnoses of the musculoskeletal system. While not an expert in language, Dr...
Apr 14, 2022•19 min•Ep. 130
ONCE UPON A GENE - EPISODE 129 Self Care for Your Healthcare with Ehlers Danlos Patient and Ms. Wheelchair Washington USA - Sarah Tompkins Ms. Wheelchair Washington USA 2022, Sarah Tompkins has Ehlers Danlos Syndrome (EDS), she does extensive rare disease advocacy work, and centers her messaging around her slogan- practice self care for your healthcare. EPISODE HIGHLIGHTS Tell us about your EDS journey and advocacy work. I'm an Ehlers Danlos Syndrome and chronic pain patient and rare disease, di...
Apr 07, 2022•37 min•Ep. 129
Intro music by Scott Holmes
Apr 05, 2022•5 min
ONCE UPON A GENE - EPISODE 128 Sisters’ Hope Foundation President and Founder Heidi Edwards on Recognizing ALSP Symptoms and the Importance of Genetic Testing Heidi Edwards, President and Founder of Sisters’ Hope Foundation, has a family history of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). She's on a mission through the work of Sisters’ Hope Foundation to advocate and spread awareness for ALSP patients. EPISODE HIGHLIGHTS Where did your ALSP journey begin? ...
Mar 31, 2022•33 min•Ep. 128
ONCE UPON A GENE - EPISODE 127 Building a Different Kind of Motherhood Experience Than We Had Anticipated with CDKL5 Deficiency Disorder Mom and Founder of Art For Hope Love Cure, Marissa Bishop Marissa Bishop's son Gregory was born with CDKL5 Deficiency Disorder (CDD), a rare neurological disease that causes a variety of symptoms including seizures and cortical visual impairment. Marissa is a board member for the International Foundation for CDKL5 Research (IFCR) and started Art For Hope|Love|C...
Mar 24, 2022•40 min•Ep. 127
Intro music by Scott Holmes
Mar 22, 2022•5 min
ONCE UPON A GENE - EPISODE 126 A Rare Collection - Unexpected Findings There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Katheron Intson Katheron started her PhD in basic neuroscience as a learning and memory researcher. She shares her experience of GRIN1 and how when patients became involved, her work transformed and unexpected findin...
Mar 17, 2022•18 min•Ep. 126
ONCE UPON A GENE - EPISODE 125 A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure - Katie Lloyd Katie Lloyd is a mama to Kasper, who has a rare genetic disorder called DeSanto-Shinawi syndrome and she's joining me to talk about postpartum depression and mental health. Be sure to check out her blog, A Very Rare Adventure. EPISODE HIGHLIGHTS Can you tell us about Kasper? Kasper is almost three years old and he has DeSanto-Shinawi syndrome. Kas...
Mar 10, 2022•35 min•Ep. 125
Intro music by Scott Holmes
Mar 08, 2022•6 min
ONCE UPON A GENE - EPISODE 124 Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere Jamas LaFreniere is the rad dad to Sophie, who has an ultra-rare glycogen storage disease called GSD1B. He’s also the founder of Sophie’s Hope Foundation and CureGSD1b. EPISODE HIGHLIGHTS Tell us about Sophie's diagnosis and the foundation you started. Sophie just turned 4 years old and was diagnosed with GSD1B just before she turned 2 years...
Mar 03, 2022•39 min•Ep. 124
