The Desperate for a Diagnosis Podcast with Laura Nozicka

In thisconversation, Pam Cusick of Rare Patient Voice discusses the importance ofpatients participating in market research and clinical trials. With over 1400conditions currently represented, Rare Patient Voice welcomes everyone who iswilling to participate. The conversation also touches on the challengespatients face when seeking medical attention and how Rare Patient Voiceempowers patients by connecting them with opportunities to share theirexperiences and make things better for themselves and others. With some partsof trials being done at home or via Zoom, patients have opinions aboutparticipating in these studies from the comfort of their own homes. Overall,Rare Patient Voice values patient input and seeks to provide opportunities forpatients to have a voice in shaping healthcare decisions. Learn more about howto become a member of Rare Patient Voice's research panel atwww.rarepatientvoice.com

Chapters:

00:00:00 Introduction To Pam HandAnd Rare Patient Voice

00:03:41 Rare Patient Voice's InvolvementIn Over 8000 Projects

00:05:56 Perceptions Of ClinicalTrials Among The Public

00:09:27 Support For Patients InClinical Trials.

00:11:39 Need For An Airline ForPatients With Challenges

00:14:04 Empowering PatientsThrough Sharing Experiences.

00:18:03 The Importance Of PatientInput For Effective Solutions

00:22:34 The Importance Of SupportGroups For Patients And Caregivers

00:23:56 The Importance OfCaregiver Perspective In Research On Alzheimer's Dementia.

00:28:37 A Little Person's CancerStruggle And The Importance Of Persistence.

00:30:11 The Frustration OfMisdiagnosis And Patient Empowerment

00:34:07 Lack Of Awareness On TheBenefits Of Advocacy Groups

00:37:51 Constantly Changing ListOf Requested Disease Areas For Medical Research

00:41:56 Patient Inquiries AboutResearch Results

Key Takeaways:

1. Advocacy groups can be helpfulin pulling together information for research, but patients should also do theirown research.

2. A study found that over 50% ofpatients and caregivers surveyed were not working with an advocacy group.

3. Rare Rare Patient Voicewelcomes everyone and has over 1400 represented conditions.

4. Patient Voice conducts internalstudies to keep patients engaged and shares the results with them, but it isuncommon to receive results from studies they are involved in.

Resources:

Connect with Laura

Email: [email protected]

Website:www.desperateforadiagnosis.com

YouTube:https://www.youtube.com/@desperateforadiagnosis

Facebook:https://www.facebook.com/DesperateForADiagnosisPodcast

LinkedIn:https://www.linkedin.com/showcase/the-desperate-for-a-diagnosis-podcast/

#MarketResearch #ClinicalTrials #RareDiseases#PatientAdvocacy #Healthcare #PatientExperience #PatientInsights#PatientEmpowerment #PatientEngagement #HealthcareResearch #PatientCentricity#PatientInclusion #PatientStories #PatientJourney #PatientEducation#PatientSupport #PatientCare #PatientPerspective #PatientDriven #podcast#rarepatientvoice

The Desperate For a Diagnosis Podcast features Melissa Schroeder discussing her journey with Ehlers Danlos (EDS) and POTS (Postural Orthostatic Tachycardia Syndrome). She talks about her struggles with joint dislocations and the difficulty of getting a diagnosis due to the high cost of genetic testing. Melissa shares her personal experience of struggling to find a diagnosis for their medical condition since childhood, even after seeing numerous doctors and specialists, including psychiatrists and therapists. She emphasizes the importance of persistence in seeking a diagnosis and encourages others to do her own research and advocate for themselves. Additionally, she discusses the value of having supportive friends and even a trained dog to help her through her medical journey.

Chapters:

00:00:00 Hope And Encouragement In Life's Surprising Twists And Turns

00:01:58 A Life With Animals: A Passion for Volunteering and A Special Pooch

00:03:47 Unexpected Connection Leads to New Dog for Volunteer at Animal Sanctuary

00:06:40 Childhood Struggles With Unidentified Pains and Breaks

00:10:21 Struggle With Diagnosis And Treatment For Rare Medical Condition

00:13:35 Genetic Testing For Medical Diagnosis Is Costly and Requires Further Exploration

00:24:35 Patient Shares Frustrating Experience with Doctor's Misdiagnosis and Lack Of Attention

00:31:56 Patient Shares Advice for Coping with Illness and Finding Support Groups

00:33:23 Support Group for Personal Well-being Beyond Diagnosis

00:37:42 A Reluctance To Deal With Complex Issues In Healthcare

Key Takeaways:

1. Melissa discusses her experience with doctors and specialists, often being misdiagnosed or not taken seriously.

2. She talks about the relief of finally receiving a diagnosis of Ehlers-Danlos Syndrome (EDS), but also the fear of how it will impact her future.

3. Melissa shares her daily routines and exercises to manage her symptoms, including walking and yoga.

4. She discusses the potential genetic link to EDS in her family and the challenges of pursuing genetic testing.

5. Melissa introduces her service dog, Ivory, who helps her with tasks such as retrieving medication and assisting during allergic reactions.

6. She also mentions her online community for individuals with EDS and offers advice for seeking a diagnosis.

Resources:

Melissa mentioned a wonderful community that helped her connect with people with her condition. Learn more about ⁠Insipire.com.⁠

• Searching for a diagnosis – or being diagnosed with a health condition – can be overwhelming.
• Inspire is the largest online community for health. It’s a safe, anonymous space where you can find information and support for over 3,000 conditions.
• On Inspire, patients and caregivers open up about their conditions, ask questions and share support for their health challenges.
• Find your community of support at Inspire.com.

Connect with Laura

Email: [email protected]

Website: www.desperateforadiagnosis.com

YouTube: https://www.youtube.com/@desperateforadiagnosis

Facebook: https://www.facebook.com/DesperateForADiagnosisPodcast

LinkedIn: https://www.linkedin.com/showcase/the-desperate-for-a-diagnosis-podcast/

Title: A "Special Boy's" Mystery Genetic Disorder: One Dad's Crusade To Find Answers, An Interview With Matthew Ciciretti

In this heartfelt episode, Laura interviews Matt Ciciretti, a super dad of five kids, two dogs, three cats, and a goldfish. He shares his journey with his 10-year-old son Mark, his "special boy," who was born with a cleft lip and palate, and developmental delays. Doctors also recently discovered an undiagnosed genetic condition, an apparent bone marrow disorder, that has left the medical community puzzled. Mark specifically has a partial deletion of his 21 chromosome, called partial monosomy syndrome and on his 22 chromosome, he has a partial addition called partial trisomy syndrome. These syndromes are so unique that there isn't even a database of children like Mark. So the mystery remains. Mark suffers from spontaneous nosebleeds and often requires trips to the emergency room with subsequent transfusions and hospital stays. Navigating the healthcare system can be challenging, especially when your child doesn't fit the classical mold of a diagnosis. Matt discusses his experiences with various physicians, the obstacles they have faced while seeking answers about Mark's condition, and the importance of advocating for your child's medical care.

Key Topics:

1. Journey With a Child's Undiagnosed Condition (0:00:01): Matt shares the beginning of his journey with Mark, who was born with a cleft lip and palate and a unique genetic makeup that doctors have struggled to diagnose.

2. Unidentified Cause of Low Platelets (0:16:03): Matt discusses the challenges faced while trying to identify the cause of Mark's low platelets, leading to multiple hospitalizations and tests.

3. Advocating for Medical Care (0:25:43): Matt shares his experience of pushing medical professionals to provide additional information and insight into Mark's condition, eventually leading to a mild autism diagnosis and access to resources and support.

4. Navigating the Healthcare System (0:42:04): Matt expresses his frustrations with the lack of accountability and transparency in the healthcare system and the emotional toll a lack of answers can take on a family. However, Matt applauds the efforts of Mark's pediatric hematology team.

5. Supportive Relationships in Times of Need (0:55:17): Matt reflects on the incredible support he has received from loved ones and the importance of maintaining resilience in the face of challenges.

Advice for other parents in similar situations:

- Find a physician who truly cares about your child

- Explore options for top-tier medical care, depending on your insurance

- Seek support from loved ones and professionals to help navigate the healthcare system...Matt offers even more advice in the podcast.

Don't miss this inspiring and informative conversation with Matt Ciciretti as we learn about the challenges of parenting a child with an undiagnosed condition and the importance of continuing to advocate for his or her well-being.

Connect with Laura

Email: [email protected]

Website: www.desperateforadiagnosis.com

Youtube: https://www.youtube.com/@desperateforadiagnosis

Facebook: https://www.facebook.com/DesperateForADiagnosisPodcast

LinkedIn: https://www.linkedin.com/showcase/the-desperate-for-a-diagnosis-podcast/

This is a podcast featuring inspirational patient stories of perseverance to find the answers! 

Welcome to The Desperate for a Diagnosis Podcast with Laura Nozicka.

I am so thrilled to be launching this podcast. I had intended to launch back in February of this year, 2023, but God had another plan. My dad passed away on January 29, 2023. He had been diagnosed with congestive heart failure and type 2 diabetes in 2012. The thing is he was not unhealthy, he didn’t abuse himself, wasn’t a drinker or smoker but had a silent heart attack that was found on a fluke when we went to the hospital for another reason. So often these unexpected findings pop up and I’d like to think that God or the universe is watching out for us when those things happen. My hope is that my dad is watching over me as I pursue this podcast journey on behalf of making the healthcare system better and more compassionate while helping patients and caregivers find answers for symptoms and help them cope along the way.

Have you seen doctor after doctor begging to put a name to your symptoms? How long have you been seeking answers? Months? Years? Are you tired of the healthcare revolving door? How many times have you heard these words from doctors, family, and friends?

"It’s all in your head!"

"You don’t look sick."

"Your tests are normal."

"It’s probably anxiety."

"There’s nothing wrong with you!"

My podcast was born out of my own experience with hearing "your tests are normal and there's nothing wrong with you," when all along I knew something was not right. After seeing multiple physicians, some of my symptoms have resolved. Some remain a mystery.

The creation of this podcast is also driven by having interviewed hundreds of patients via market research interviews (market research is what I do for a living). So often patients have expressed feeling dismissed, labeled, pigeonholed, and completely frustrated. They also have been led to feel as if they are crazy and that it really is "all in your head!" So many patients are exhausted from swirling through the healthcare "revolving door" and feel as if they have nowhere else to turn. Many have given up and have accepted their mysterious symptoms.

The goal of the podcast is to...

- Offer hope to people without answers as they may hear guest stories that makes them say, "that sounds like me!"  and instill the confidence patients need to advocate for themselves.

- Bring these medical mysteries, diagnostic roadblocks, and potential solutions to a broad reach of patients and medical professionals.

- Encourage healthcare leaders to think differently about early, cost-effective diagnostics and the associated benefits to getting patients into treatment sooner. 

- Illuminate the patient experience as a reflection of how patients perceive the healthcare system and their hope and belief that they can and will get a diagnosis. 

- Present viewpoints from both sides of the bedside...the patient and healthcare providers. 

I’m your host Laura Nozicka. I'm from Chicago and have an extensive career in healthcare working in non-clinical positions. I've worked side-by-side with physicians and clinicians in dozens of specialties, and interviewed hundreds of medical professionals and patients gleaning insights from their experiences.

To learn more or to become a guest, visit ⁠www.desperateforadiagnosis.com⁠ or email [email protected].

*I am not a medical professional, nor am I affiliated with any healthcare, pharmaceutical or device company. I am an entrepreneur, and I am an independent market researcher focused on helping healthcare organizations and pharmaceutical companies better understand the patient’s perspective. The podcast is not intended to offer medical advice but to merely share the stories and perspectives of podcast guests.

EPISODES COMING SOON!

This is a podcast featuring inspirational patient stories of perseverance to find the answers! Are you tired of the healthcare revolving door? Have you seen doctor after doctor begging to put a name to your symptoms? How long have you been seeking answers? Months? Years? If this describes your experience, the "Desperate For a Diagnosis" podcast wants to tell your story!

Physicians often want the diagnosis that fits in a box with a pretty bow, then hand over the treatment plan and send you on your way. It doesn't always work that way. You may be spinning through the healthcare revolving door for months or years seeking a name for your symptoms. Maybe you were successful. Or maybe not.

The Desperate For a Diagnosis podcast welcomes success stories of finding a diagnosis as well as the stories from patients who are still searching for answers. If your symptoms are being dismissed by physicians, family and friends, you can relate to how others may feel.

To be a guest on the podcast, go to www.desperateforadiagnosis.com, click on "Contact Me" and complete the form to be considered as a guest. The podcast also welcomes health-related experts to offer opinions. This podcast is also meant to be a forum for the medical community to learn from patients' frustrations to create a more efficient system to diagnose rare or mystery conditions. Health-related experts will also be featured on podcast episodes along with discussions on current healthcare news.

Your host, Laura Nozicka, is from from Chicago and has a long career in healthcare, which drives my passion to elevate the healthcare experience. I created this podcast out of my own experience of spinning through the healthcare "revolving door." She is an independent market researcher focused on helping healthcare organizations and pharmaceutical companies better understand the patient perspective.

To be a guest on the podcast...

1) Go to: www.desperateforadiagnosis.com

2) Click on "Contact Me\Be a Guest" where you will find a link to a form to be considered as a guest

3) Complete the form

4) You will be contacted to set up a screening call to learn more about you

I look forward to hearing your story!

Laura

[email protected]