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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
50 episodes
Familial Adenomatous Polyposis With Jenny From Oklahoma
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 t...
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Season 4
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Episode 11
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40:10
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From Researcher to Lymphocytic Colitis Patient Ben From South Dakota
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 w...
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Season 4
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Episode 10
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1:29:05
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Unnamed Chromosomal Disorder With Melissa From Minnesota
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.&...
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Season 4
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Episode 9
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43:56
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RareGen's Impact: Khartik Uppalapati on Science, Policy, and Patient Empowerment
Guest: Khartik Uppalapati, Co-founder of RareGen Youth NetworkEpisode Description:In this episode of Rare Connection, host Joanna welcomes Khartik Uppalapati, a remarkable young leader at the intersection of biomedic...
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Season 4
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Episode 8
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37:12
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Cerebral Cavernous Malformation With Elizabeth From Oregon and Allison from DC
Guest(s): Allison & ElizabethEpisode SummaryIn this episode of Rare Connection, I’m joined by twin sisters Allison and Elizabeth, who both have familial Cerebral Cavernous Malformation (CCM)—a rar...
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Season 4
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Episode 7
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2:19:52
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Jeff McDonald CEO Kythera Labs
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 ...
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Season 4
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Episode 6
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1:03:35
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Sjogren's Syndrome with Mimi From Florida
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...
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Season 4
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Episode 5
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1:24:05
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Alpha 1 Atrypsijn Deficiency With Mr,. Ohh From Ohio
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 hi...
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Season 4
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Episode 4
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1:11:43
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Hemochromatosis With Michael from Guatemala
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 condition...
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Season 4
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Episode 3
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2:04:22
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Acromegaly With Risa From Colorado
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 184...
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Season 4
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Episode 2
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1:04:54
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PKU With Danielle From Maryland
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 daught...
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Season 4
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Episode 1
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41:53
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Superficial Siderosis With Rori From Texas
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 c...
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Season 3
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Episode 13
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1:13:08
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Male Breast Cancer With Phil From The UK
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, treatm...
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Season 3
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Episode 12
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29:12
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Homocystinuria With Erika from Florida
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 Equ...
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Season 3
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Episode 11
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48:14
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Homocystinuria Awareness Month: Classical Homocystinuria with Denise From Ohio
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 en...
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Season 3
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Episode 10
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44:25
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Homocystinuria Awareness Month: Classical Homocystinuria with Anna from Uruguay
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 ...
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Season 3
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Episode 9
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42:18
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Chronic Intestinal Pseudo Obstruction With Briana From Ohio
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 ...
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Season 3
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Episode 8
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1:13:12
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Dyskeratosis Congenita with Damien from Arizona improved sound from live
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...
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Season 3
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Episode 7
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1:13:28
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Congenital Muscular Dystrophy Newborn Screening Awareness Month
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 c...
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Season 3
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Episode 6
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20:45
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Hemophilia with Patrick James Lynch From Believe limited
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 imp...
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Season 3
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Episode 5
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40:38
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Long Chain Hydrocxy Coenzyme A Dehydrogenase Deficiency (LCHAD)
This week Rare Connection goes back to it's roots with a condition covered by the Medical Nutrition Equity Act if it were to pass. The MNEA would mandate that health insurance cover medically prescribed food, formula and vitamins for thos...
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Season 3
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Episode 4
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39:08
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Hypohidrotic Ectodermal Dysplasia With Rebekah From Oregon
Join me as I talk with Rebekah about her child Mason's diagnosis with HypoHidrotic Ectodermal Dysplasia. Mason is now years old and he is already advocating for his health with his mother's help. HypoHidrotic Ectodermal Dyspla...
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Season 3
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Episode 3
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29:46
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Menkes Disease With Daniel DeFabio From New York
Nicknamed Kinky Hair Syndrome Menkes Syndrome is tested for in cases where the child isn't getting enough copper which can cause hair loss. It is often the first sign. It isn't on the newborn screening currently, but their are clini...
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Season 3
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Episode 2
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1:00:12
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Pura Syndrome With Melissa From Washington
In this episode I talk with Melissa from the Pura Syndrome Foundation about her child Taylor now 27 who was diagnosed with Pura Syndrome 2 years after it was discovered in 2014. Listen along and learn about this condition and Melkisa's ro...
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Season 3
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Episode 1
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38:41
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Severe Methylene Tetrahydro Folate Reductase (MTHFR) With Grace from Florida
In this episode I talk with Grace a parent of 2 children. Her youngest daughter Carson, who just turned 4 has Severe MTHFR. MTHFR is the rarest form of Homocystinuria. With Severe MTHFR they do NOT follow a low protein d...
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Season 2
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Episode 13
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57:19
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