Rare Connection
Formerly Nutrition Equity, rare connection is an extension of the podcast to include all 10,000 rare conditions and not just those covered by the Medical Nutrition Equity Act. Some of the conditions may be the same, but I am trying to turn this into a learning experience for those in the medical feild, policy leaders, and those who are just interested in hearing about rare conditions and patient stories. Rare conditions are called zebras hence the zebra striped ribbon. More common conditions are called horses. Doctors tend to learn a lot about the common conditions, but rare conditions are a paragraph in a text book at best because the medical field isn't looking at the whole picture. Rare conditions when combined are actually bigger than cancer and strokes combined and if you have a rare condition you most likely have more than one or will develop another within your lifetime. As someone with a rare condition myself (Homocystinuria or HCU), know that having a rare condition can be very lonely. Thereis normally a phsycological aspect to any rare condition, and because of lack of understanding they often go undiagnosed or misdiagnosed which can cause serious health consequences or even death. If you are interested in talking and feel comfortable on camera please contact me at joanna.ball41@gmail.com. I have a visual version of this podcast on YouTube also under my cooking channel Rare Chef.
Episodes
In this milestone 50th episode of Rare Connection, host Joanna sits down with Jenny, the powerful voice behind the blog Life’s A Polyp. Diagnosed with Familial Adenomatous Polyposis (FAP) as a child, Jenny underwent a total colectomy at age 9, followed by a series of life-threatening complications that led to multiple surgeries, an ileostomy, a reversal, and eventually the diagnosis of Short Bowel Syndrome (SBS) — one...
In this episode of Rare Connection, I sit down with Ben, a rare disease researcher and advocate with over 15 years of experience in cell and molecular biology, clinical research, and leadership. Ben shares his personal journey living with lymphocytic colitis and oral lichen planus—two often misunderstood conditions—and his professional insights from working on projects like the CoRDS Rare Disease Registry and the Expe...
Melissa was 17 when she had her first child Evan. Evan was born with a cleft palate and developed 30 other conditions throughout his life. He wasn't expected to live and doctors told her to take him home and let him pass naturally. She was given what she calls a never list (He will never sit up, he will never talk, he will never stand etc). She was told she could have other children. When she did become preg...
Guest: Khartik Uppalapati, Co-founder of RareGen Youth Network
Episode Description:
In this episode of Rare Connection, host Joanna welcomes Khartik Uppalapati, a remarkable young leader at the intersection of biomedical research and rare disease advocacy. Khartik shares his personal journey with rare conditions, which ignited his passion for scientific innovation and healthcare policy reform.
We delve into Khartik'...
Guest(s): Allison & Elizabeth
Episode Summary
In this episode of Rare Connection, I’m joined by twin sisters Allison and Elizabeth, who both have familial Cerebral Cavernous Malformation (CCM)—a rare genetic condition that causes clusters of abnormal blood vessels in the brain and spinal cord. They share their personal diagnosis journeys, how CCM has impacted their lives, and the ways they manage symptoms and advoca...
Rare disease patients often face long diagnostic delays, limited access to clinical trials, and challenges in finding treatments. Traditional medical records don’t always capture the full picture, making it harder to identify and support these patients. But what if advanced data and AI could change that?
In this episode of Rare Connection, I’m joined by Jeff McDonald, CEO of Kythera Labs, to discuss how AI and data ana...
In this episode of Rare Connection, Mimi shares her 20-year battle for a Sjögren’s syndrome diagnosis—a disease often misunderstood as just a "dry eye disorder" but one that led to respiratory failure and lung scarring in her case. She opens up about her journey with pulmonary fibrosis, nightly oxygen therapy, and the challenges of being taken seriously by medical professionals.
Beyond her health struggles, M...
In this episode of Rare Connection, I sit down with Chris, aka Mr. Ohh, who shares his journey of living with AATD, undergoing weekly infusions, and facing the challenges of this condition—all while using humor as his greatest weapon. We dive into what it’s like to navigate daily life with AATD, the lung-liver connection, and how laughter helps him push through even the toughest days.
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Hereditary Hemochromatosis (HHC) is a genetic condition that causes the body to absorb too much iron, leading to serious health complications if left untreated. Many people go undiagnosed for years, mistaking symptoms for other conditions.
In this episode of Rare Chef, I sit down with Michael J. Tallon, an author, traveler, and rare disease advocate, to discuss his personal journey with hemochromatosis. Michael’s battl...
Join me as I talk with Risa about her diagnosis with Acromegaly (A rare benign cancer). Learn about Risa's Symptoms and how she deals with her condition on a day to day basis. Risa decided shortly after having surgery to go on a 1845 mile bike ride from Colorado to Mexico despite her doctors advising against it. You can read more about her story in her book The Road Unpaved: Border to Border with a Brain Tumor...
In this episode I talk with Danielle, a parent of a daughter Elsa with PKU and children's book author. Her book Rosey Racoon Has PKU is available on Amazon, See link below. In this episode I talk with Danielle about Her daughter's diagnosis with PKU, and the fears and challenges she went through as a parent, her daughter's symptoms when her levels are high VS when they are normal, The PKU diet, Advic...
In this episode of Rare Connection, Joanna sits down with Rori, Vice President of the Superficial Siderosis Research Alliance (SSRA), to explore the complexities of Superficial Siderosis (SS), a rare and progressive neurodegenerative condition. Together, they discuss:
- The causes, symptoms, and diagnostic challenges of SS.
- Current treatments like chelation therapy and the role of dietary considerations.
- The vital work...
Not many think of men when they think of breast cancer. Phil found a lump under his left breast while playing with his daughter Evie. Join me as i delve into this important topic. Find out what to look for the symptoms, treatment, about various support groups and more. You can contact me to let me know you thoughts through the link in the show notes. Don't forget to leave a review and please subscribe on wha...
Erika is the parent of 24 year old nonverbal adult Alexa. Erika is talking for Alexa in this episode, Learn about Alexa's story, Learn how Erika communicates with Alexa, their struggles getting a diagnosis, The Medical Nutrition Equity Act and sources that can help with of Medical Food Formula and vitamins that are imperative For those on a metabolic low protein diet to live. I mentioned NORD in the podcast a...
Denise's child Rileu is one of few that I have spoken to that was diagnosed through newborn screening. Although Homocystinuria is on the Newborn Screening Nationwide it only catches a case 50% of the time. We are working on enhanced Newborn screening but newborn screening saves lives has not been reauthorized yet.
Follow along as I talk to Denise about Riley's diagnosis, her symptoms, diet, the...
This episode marks my second HCU Awareness month doing podcasting, and my 3rd international episode, In this episode I talk with Anna about her 12 year old daughter Juana who was diagnosed with Classical Homocystinuria. She was the first to be diagnosed with Classical HCU in Uruguay. Learn how Anna gets testing done in a country where Homocystinuria is not known about. The struggles they face with getting medical...
Briana's son was diagnosed with Maple Syrup Urine Disease and Chronic Intestinak Psuedo Obstruction, He will be undergoing a dual transplant of both the small intestine and the Liver. Liver transplants have been known to cure Maple Syrup Urine Disease, Both conditions are covered by the Medical Nutrition Equity Act which would mandate that health insurance cover the cost of medical foods, formula and vitamins ...
This is an audio playback from the live version of my podcast earrlier today with Damien. If you were listening to the live version, I rerecorded my part to make it clearer. I am hoping that upgrading my internet plan will help with the video version.
This episode is on Dyskeratosis Congenita (bone marrow failure) by means of Short Telemere Syndrome (Diysfunctional Chromosomes/DNA). Damien is an retire...
Despite Congenital Muscular Dystrophy not being tested for at birth, some companies are working on getting it passed. This is Newborn Screening Awareness Month. Since the bill hasn't been reauthorized in all states lack of funding could be harming those who are born with new conditions that may or may not be able to be tested depending on the state. It is important to raise awareness for this important cause. ...
Patrick James Lynch is a Hemophilia patient, and advocate, fim maker and podcaster. His films include Bomardier Blood, Deliver Us and My Beautiful Stutter as well as many others, He has been won several awards including the Rare impact award from the National Association for Rare Disorders (NORD) the Meritorious service award in and he has also been a keynote speaker for the World Federation of Hemophilia WFH. Patr...
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