Podcast terbaik Raising Rare (2024)

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We all handle life (and our diagnoses) differently 39:23

10d ago39:23

39:23

On this episode of Raising Rare we talk with Stacy Lloyd, a rare disease patient and board certified patient advocate. Stacy has dedicated her life, even much of her free time to healthcare in one way or another. She currently works at the American Medical Association, previously at Saavy Co-op, and is on the board of the VHL Alliance. After being …

1
They won’t be children forever: the transition from pediatric to adult care 38:05

1M ago38:05

38:05

As Raising Rare continues to grow and evolve we are going to start bring in professionals that have beneficial stories for Rare Parents. These are individuals who have dedicated their lives to helping families in one aspect or another as they care for their children. Their viewpoints, stories, and perspectives are uniquely beneficial to parents tha…

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Creating Connections in a Fragmented Landscape 44:29

1M ago44:29

44:29

On this episode of Raising Rare we talk with Megan Nolan, a rare mama working to make a difference for other Rare Families. Megan has launched the online magazine Rareparenting.com in an effort to provide rare families with resources that may be beneficial to them. Like so many other rare families, Megan has experienced the trials and tribulations …

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Revisiting Moments 37:19

2M ago37:19

37:19

This episode we are joined by Aisling Finn, an amazing poet and rare disease mama. As she shares her poetry with us, we react to the emotions, struggles, key moments and pain that are so clearly pictured in her words. Aisling shares with us the impact that writing poetry has had on her, and her expression of her feelings, and how they have helped h…

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Other end of the tunnel: True reality of hope is effort 39:02

2M ago39:02

39:02

On this episode in our Other End of the Tunnel Series we are joined by Mark Dant. When their son was just three years old, Mark and his wife were told that their son would pass within the decade after his diagnosis of MPS 1 and the lack of treatments available. As they laid on his floor listening to him breathe on the night of his diagnosis, they b…

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A new year, a new season. Glad to be back! 30:53

3M ago30:53

30:53

Welcome back! We can’t believe we are already on our fifth season of Raising Rare. So much has happened since we started this podcast and we hope to keep evolving, growing, and bringing remarkable stories and individuals to all of our listeners. What words would you use to describe your hopes for the coming year (or coming season of Raising Rare)? …

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Season 4 Finale 34:03

5M ago34:03

34:03

We have had an amazing time sharing our stories and our guests with you this season. We hope that this season of Raising Rare has had as profound an impact on you as it has on us. This episode is sadly the last of the season, but we will be back again in January with a new lineup, some old friends, and continuing to share the stories that started i…

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Never Give Up. Mistakes will lead you to discoveries 47:09

6M ago47:09

47:09

On this episode of Raising Rare we speak with Julia Taravella, the mother of two sons with a lysosomal storage disorder called AGU, Aspartylglucosaminuria. At 2 years old, her boys first showed signs of speech delays which triggered a long journey to a diagnosis. Her bright, happy and helpful sons who run around the house adventuring, exploring, an…

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What if we could reduce the stress of caregiving? 44:03

7M ago44:03

44:03

On this episode of Raising Rare we talk with one of Kevin’s old colleagues, Vik Sharma. Vik is the father of two wonderful children Lily and Mira; Mira was born nonverbal and non-ambulatory due to Cerebral Palsy. Vik talks with our hosts about the importance of patience, the reality of impatience, and how humbling being a caregiver really is. As a …

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Update from Dillion Loomis-Head: There’s always one more step 28:04

8M ago28:04

28:04

Since last talking with Dillon earlier this year, he has faced some difficulties related to his mental health, access to medication, and not being granted access to a new clinical trial. It is always a pleasure to talk with Dillon and this episode follows suit. Dillon is a strong advocate for mental health awareness, especially within the rare dise…

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Terry Pirovolakis: Three Years Later, An update from one of our earliest guests 38:03

8M ago38:03

38:03

On this episode we are able to interview one of our first guests again, Terry Pirovolakis. Terry gives us the update on what they have gone through in the last three years, his 4 million dollar gamble, a massive career change and how his son Michael is doing now after receiving a dose of gene therapy. Terry’s breakdown of how they made decisions, s…

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Hope is a prerequisite for Action 32:43

9M ago32:43

32:43

On this episode we talk with Kacy and Tim Wyman. Kacy is a 21 year old sophomore in college who was diagnosed with Cystinosis at the age of 4. Kacy has experienced a lifetime of medication to help treat her condition, and also anti-rejection medications in an effort to keep her donated kidney alive and well inside of her. Her father Tim was blessed…

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empoweredtogether.us 34:39

10M ago34:39

34:39

This episode is a call to action, an opportunity to seek out available resources, and another connection to an amazing rare parent striving to make the rare community better. Sarah Spear is a rare mama who recognized a need in the community. After doing some market research, she determined that having a database available to the rare community show…

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How high is the real cost? 39:19

11M ago39:19

39:19

Life with a rare disease changes everything for parents. What is the cost of stress? What is the cost of scheduling everything? What is the cost of explaining your situation...again? What is the cost of one more thing? On this episode of Raising Rare our cohosts have the opportunity to share the costs of Rare Diseases. Those costs reach so far beyo…

1
Give Yourself More Grace 52:14

11M ago52:14

52:14

Dillon Loomis- Head is a dear friend to Salem Oaks, a mental health advocate, a clinical trial participant, and a Friedreichs Ataxia Research Alliance Ambassador. The Salem Oaks team met Dillon a number of years ago and are thrilled to have him join the hosts of Raising Rare on this emotional episode to discuss his life experiences, clinical trial …

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Who cares for the caregivers? 44:46

12M ago44:46

44:46

Cristol Barrett O’Loughlin, founder of ANGEL AID CARES, was a caregiver to 3 of her brothers early in her life; now she works to care for caregivers. Cristol is focused on the mental health and wellness services of caregivers within the rare disease community, her lived experience created a passion to help. In this episode Cristol talks about the g…

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Cystinosis Awareness Day is May 7th 0:44

12M ago0:44

0:44

Later this year we will be talking to Kacy Wyman and her Dad, Tim. Kacy was diagnosed with Cystinosis when she was very young and is now in college. Her family has given her more than just support. You will need to listen to find out more. For now, use May 7 to raise the awareness of cystinosis and support the research efforts to find find improved…

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Patrick Girondi: Rags to Riches to Rondone 44:38

12M ago44:38

44:38

Our goal is to provide a place where patients and parents can express their lived experience to provide hope and guidance to others. Our guests’ experiences vary widely and do not necessarily reflect the views and opinions of Salem Oaks or Raising Rare. Patrick Girondi is an author, songwriter, singer, founder of gene therapy company, but most impo…

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Twin Genetics One Diagnosis 43:41

1y ago43:41

43:41

No one wants a phone call from the nurse at their children’s school. In the fall of 2020, Megan received that call and was told that her daughter, who previously showed no symptoms, had a seizure and was being taken by ambulance to the hospital. After a whirlwind of tests and doctors and not being sure what any of it meant or what was going on, the…

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Susan Geoghegan - Caregiver to Caregiver 44:06

1y ago44:06

44:06

You are good at so many things, but you are great at taking care of your kids and don’t ever question that. Caregiver to caregiver what you are doing is hard, but you are so good at it. Raising Rare is so excited to share this episode with you. Susan Geoghegan is an amazing mom of two rare babies given the challenge in life of Mitochondrial Disease…

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Jamas LaFreniere - Corn Starch, Quality of life, and the importance of an Umbrella 48:37

1y ago48:37

48:37

On this episode of Raising Rare, we have the opportunity of talking with Jamas LaFreniere the father of a daughter with Glycogen Storage Disorder Type 1B. Jamas discusses their diagnostic journey and how it may be different from many other rare disease families, even those with the same disorder, his disbelief in what the treatment option is and ho…

1
Welcome to Season 4 31:07

1y ago31:07

31:07

Welcome back to Season 4 of Raising Rare. It’s great to be back as co-hosts and talk about changes in our lives, holiday struggles, and hopes for this year. We are all looking forward to new adventures, new opportunities, and new experiences as families, community members and political candidates. Sometimes just being back with good friends, who yo…

1
Raising Rare Anonymous? 52:52

1+ y ago52:52

52:52

Thank you for joining us for the first rare disease anonymous meetup. On this episode we talk to fellow podcaster and rare parent Gary David about the uncertainties of raising a rare child. Gary has used his experience as an adult child of an alcoholic to better himself as a parent, partner, professor, and person. He began attending 12 step recover…

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On the Ground at Global Genes 2022 30:44

1+ y ago30:44

30:44

From what they had for lunch to some of Kevin’s most meaningful moments. In this different episode, Sanath and Brittany ask Kevin about his experience at the 2022 Global Genes Patient Advocacy Summit. While we all planned to meet there, it just was not in the cards. Kevin recorded the episode on location from the Town & Country resort in San Diego.…

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Casey McPherson: Making Music and Drugs for Rare Disease 18:53

1+ y ago18:53

18:53

We spoke to Casey McPherson during the recent Global Genes Patient Advocacy Summit in San Diego. Casey’s daughter Rose has HNRNPH2 (www.tocurearose.org ) He has made the extraordinary step of starting his own lab. Even more wonderful is that this lab is committed to providing a more efficient, accessible lab capability to other parents looking to f…

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Episode FIFTY. Birthday FOUR. Patients UNCOUNTED. 38:40

1+ y ago38:40

38:40

When we first met, Raghav was just one year old, and they had just gotten his diagnosis. That was 3 years and 50 episodes ago. Raghav is now 4 years old and Sanath has started a new non-profit organization called Open Treatments. In this episode we talk about both. The birthdays bring a lot of emotions. Each one is precious. At the same time, today…

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Comparing Notes: Transitions Are A Constant in Rare Disease 42:26

2y ago42:26

42:26

What a great way to introduce our “Comparing Notes” occasional series. Who knew talking about g-tubes could be so fun? The day you hear that your child has a rare disease your life changes. And the changes just keep coming. From dietary changes, to feeding tubes, to school, and even additional diagnoses. These lead to even bigger changes like movin…

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Virtual Hugs: Empowerment, Optimism, Hope and Lifelong Connections 33:32

2y ago33:32

33:32

The impact of having a rare child can be overwhelming. Parents can find themselves in a dark place and defeated. We welcome back Brittany Ratke who found herself in that place and was struggling. Fortunately, she learned about a fantastic group called Angel Aid that provides support and teaches self-care skills for rare moms. Brittany decided to ap…

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All Newborns. All Rare Diseases. Project GUARDIAN. 34:57

2y ago34:57

34:57

Just imagine a world where every single newborn is screened for all known genetic diseases. In part 2 of our discussion with genomic scientist and rare dad Mike Hu, we discuss Project GUARDIAN, his effort to provide Genomic Uniform Assessment of Rare Disease In All Newborns. This visionary project could help reduce the emotional, physical, and deve…

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Mike Hu – Two Boys. One Diagnosis. We can do better. 20:14

2y ago20:14

20:14

In the first part of our discussion with Mike Hu, we hear the story of his two sons with Mucopolysaccharidosis Type 2, or MPS2. MPS2 is also known as Hunter’s Syndrome. I first connected with Mike during a Rare Disease Week session in which he talked about a truly visionary project. We often speak with parents who find themselves thrown into this w…

1
Everleigh: SETD5 Clouds Our Rainbow and Sunshine Baby 31:50

2y ago31:50

31:50

Everleigh was the answer to Brittany and Chris’s dreams, their sunshine and rainbow baby after years of trying to become parents. Clouds started forming before Everleigh was even born. Because early ultrasounds showed that she had some signs usually associated with Down’s Syndrome, they decided against further pre-natal testing. When Everleigh was …

1
Ask Me Anything 26:31

2y ago26:31

26:31

Have you ever been listening to a podcast and wish you could suggest a question for the interviewer to ask? You know there is something else you want to know but the conversation just seems to miss it. We have and we wanted to try something new to address the issue. Recently, Sanath put out a request to ask him anything with the promise we would an…

1
Surprising Repurposing of an Asthma Drug 30:30

2y ago30:30

30:30

Last year, Sanath started a huge undertaking to sift through more than 4000 existing drugs to find any that might help Raghav. This high-throughput screen looked at all sorts of medications with the hope that one or more would show unexpected activity in Raghav’s very cells. And they found one. It was an approved and marketed drug, which meant it w…

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Season 3 Premier - Surprising Progress During Our Break 26:36

2y ago26:36

26:36

As we launch Season 3, we learn about some exciting new developments for Raghav over the past few months. Some huge milestones were met while we were on our hiatus. You will need to listen – no spoilers here. We also looked back at Raising Rare in 2021. The beauty of reflecting on our last season is that we realize how much happened and how quickly…

1
True Fear, New Perspectives 31:10

2+ y ago31:10

31:10

For two years, we have shared the amazing story of Sanath, Ramya, and their baby son Raghav. They have started a non-profit, held a scientific conference, raised funds, started an experimental drug, and even commissioned research to screen over 4000 compounds for potential use. And they have learned how to manage Raghav’s daily routine. All that ch…

1
Sifting Through Too Many Options 13:39

2+ y ago13:39

13:39

We have been able to share some exciting news in the last two episodes. Sanath and cureGPX4.org commissioned a High-Throughput Screening assay to look for compounds that improve the growth of Raghav’s cells in culture. Then we heard the exciting news that the assay found 116 hits, 43 of which are already approved for other conditions. Sanath has pu…

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Unveiling High-Throughput Screening Results 29:50

2+ y ago29:50

29:50

Since the moment they got the diagnosis of Sedeghatian-type spondylometaphyseal dysplasia (SSMD), Sanath and Ramya have been on a relentless quest to find something to help their son Raghav. They have tried some off-the-counter supplements. They worked with a small biopharma to write an IND to get access to an experimental compound. And recently, t…

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Real Progress in the Search for a Treatment 28:19

2+ y ago28:19

28:19

Progress. All rare disease parents want to see progress in the search for a treatment for their child. In the past two years, Sanath has worked diligently to make that progress happen and it is beginning to pay off. When we started Raising Rare, our goal was to follow the story of baby Raghav and his parents Sanath and Ramya. A second goal was to h…

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MIllions of Families... One Rare Disease Story 35:46

2+ y ago35:46

35:46

"If all you do is take care of your child, you are doing it right." Daniel DeFabio In part 3 of our series with the founders of The Disorder Channel, Daniel DeFabio and Bo Bigelow, we learn how their partnership began and how it has grown. Their story is one that has several chapters. We talk about how every family affected by a rare disease has th…

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The Disorder Dads (Part 2): Daniel DeFabio’s Surprisingly Grateful Response 37:43

2+ y ago37:43

37:43

This is part two of our 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. The Disorder Film Festival and the Disorder Channel are two of the most powerful rare disease storytelling platforms on the planet. You might think that a few high-powered media moguls are behind it all. Not quite. Daniel D…

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The Disorder Dads (Part 1): Bo Bigelow's Story 32:10

3y ago32:10

32:10

We are starting a unique 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. The Disorder Film Festival and the Disorder Channel are two of the most powerful rare disease storytelling platforms on the planet. You might think that a few high-powered media moguls are behind it all. Not quite. On toda…

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There Is No Such Thing As A Simple Cold 45:11

3y ago45:11

45:11

A cough. A sniffle. Telltale signs of the common cold. For little Raghav, his life was suddenly in danger. In one of our most heartfelt episodes Sanath tells us about their very scary trip to the hospital when Raghav developed a serious and persistent cough. For most of us and our kids, a common rhinovirus is annoying and may last a few days. For S…

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Living Proof: Terry and Billy Ellsworth - Part 2 19:30

3y ago19:30

19:30

In Part 2 of our discussion with Terri and Billy Ellsworth we talk about the experience of being in a clinical trial for Duchenne Muscular Dystrophy. We hear from Billy – his memories and his perspective. It was a chance of a lifetime, but it was scary for 10-year-old. Billy talks about bonding with the other boys in the trial. We also talk to Bill…

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Brave Pioneers in DMD Terri And Billy Ellsworth - Part 1 28:57

3y ago28:57

28:57

Recently we had the honor and joy of speaking with Terry and Billy Ellsworth, a mom and her son who has Duchenne muscular dystrophy or DMD as part of series on families that have made it to the other end of the tunnel. They were on the front lines of research that has now brought hope to some boys with DMD, including Billy himself. In this episode,…

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The Unseen and Indirect Costs of Raising a Rare Child 15:31

3y ago15:31

15:31

The costs of raising a rare child are daunting. Last time, we talked about the medical costs. In part 2 of the conversation, we are going to go a little bit deeper. We are going to discuss the impact on Sanath and Ramya’s lives, their mental health, and their relationships. In addition to the impact on their lives, Raghav’s condition takes away fro…

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Breaking Down the Rare Disease Medical Bills 30:28

3y ago30:28

30:28

Raising a child with a rare condition can be difficult and very costly. The Everylife Foundation released a report in February 2021 that showed the overall economic burden of rare disease in the US is approaching ONE TRILLION DOLLARS every year. That is an attention-grabbing number. But what does it really mean? We explore this question through Rag…

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Nicole Horvath: A Life of Outliving Cystic Fibrosis Expectations 31:12

3y ago31:12

31:12

When Nicole Horvath was born, she had a terminal disease, and no one knew it. If they had known, they would have given her only 18 years to live. When she was 20, she had to drop out of college because she was showing severe symptoms. This is when she finally got a diagnosis of cystic fibrosis (CF). At that time, all they good do was use physical t…

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Introducing Open Treatments: Making Rare Disease Research More Accessible 25:42

3y ago25:42

25:42

Sanath Kumar Ramesh – Rare Dad, Founder & CEO of Open Treatments, and Podcaster The quest for treatments for rare diseases is challenging under the best circumstances. For ultra-rare diseases like Raghav’s, the system is just not built to find and provide treatments for nine patients. There is no viable business model. There is no regulatory pathwa…

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It's Not Humanly Possible Revisited 12:05

3y ago12:05

12:05

Parents cannot focus 100% on the child as well as make progress toward a treatment. It’s just not humanly possible. In this short episode, we talk to Sanath and Ramya about the importance of relationships. We talk about their relationship with each other, Raghav’s grandparents, and some close friends. When faced with the challenges a child with a r…

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More Than You Can Handle (Part 2) 41:55

3y ago41:55

41:55

In Part 2 of our powerful interview with author Miguel Sancho and his wife Felicia Morton we talk about the myriad decisions that parents raising a child with a rare disease must make. Their son was born with a severe immunodeficiency known as chronic granulomatous disease (CGD). The decisions range from the ones we cannot imagine having to make to…

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