Rare Connection

Send us Fan Mail Join me as I talk with Author, Student and Patient Charleigh.  Charleigh has Gastroparesis (GP) and Post Orthostatic Tachycardia Syndrome (POTS).  She is also a student at Pratt University and an Author of 2 books Rule 25: Don't Forget the Target and Demon Scout.  In this episode Charleigh talks about her symptoms of both POTS and GP, Diagnosis and how they are affecting her...

Send us Fan Mail In this episode, I talk with Wendy about her life as a Special Education Teacher, and yoga instructor and her new book "Kiss You Love, Goodbye"  Wendy talks about her how she found her knew purpose in life after she wasn't able to teach again.   How she adapted to life after teaching.   Chapter Markers 00:00 Intro 04:06 How Wendy's health influenced her transit...

Send us Fan Mail In this episode Jenifer tells her story about how she was diagnosed with Homocystinuria (HCU) and how she was diagnosed.  She will tell where she goes for help and other resources that have helped her along the way.  At 55 Jenifer is one of the older HCU patients.  At one time they thought that those with Homocystinuria wouldn't live past the age of 30.  Today thanks to advan...

Send us Fan Mail In this episode of Nutrition Equity I talk with Jessica, a patient with both Classical Homocystinuria and Diabetes. Jessica will talk about the complexities of dealing with two conflicting conditons.  Homocystinuria requires a low protein diet and Diabetes requires you to watch your carbs and sugar intake.  While nuts aren't allowed for most on a low protein diet trace amount...

Send us Fan Mail In this episode I talk with Heather a parent of a child with Cobalamin G.  Cobalmin disorders are named for the order in which they were discovered.  Some Cobalmin disorders fall under the Homocystinuria Family, some are Methyl Malonic acidemia's and some are both.  They are tested for on Newborn screening, but often missed.  Heather's child Kodi is one of the children w...

Send us Fan Mail In this episode, Bharat disscuses his personal journey as an Homocystinuria (HCU) patient, his role at taste connections (one of the medical food companies).   Bharat is one of the few classical Homocystinuria patients that is also diabetic.  He discusses the types of restaurants he likes and the coverage in his state for medical food, Medically prescribed formula and vitamins)  H...

Send us Fan Mail This month is Homocystinuria (HCU) Awareness Month.  Today I am joined by Danae Bartke the Executive Director of HCU Network America.  Two of the three types of Homocystinuria would  be covered if the Medical Nutrition Equity Act were to pass.  Currently we are trying to get this crucial bill reintroduced into congress again.  In this episode we will discuss the three types of Hom...

Send us Fan Mail In this episode I talk with Andrew Jablowski Founder of the Short Bowel Syndrome foundation inc.  Andrew is a patient advisor and physician advisor for NAIA Pharmacuticals formerly Shire pharmacuticals.  Andrew will talk about his life with Short Bowel Syndrome, his job as a physician and patient advisor, and his foundation.  You can learn more at https://shortbowelfoundation.org/...

Send us Fan Mail Listen in as I talk with Valerie a mother of 18 year old Summer who was diagnosed late with Classical Homocystinuria.  A rare genetic condition that can be fatal if not caught early.  As a result of her late diagnosis Valerie's child Summer had strokes in utero which caused learning disabilities.   You can learn more about Homocystinuria (HCU) at hcunetworkamerica.org.  You c...

Send us Fan Mail Listen as I talk with Brittany, parent of two children with Cobalamin G and the head of the Cobalamin Steering Committee for HCU Network America.  Brittany will discuss her reasons for advocacy, her role on the steering committee, and the issues faced by those with Cobalamin Disorders. Chapter Markers 00:00 Intro 06:19  Why Britany advocates for the Medical Nutrition Equity Act 08...

Send us Fan Mail In this episode of Nutrition Equity I talk with Andrew.  A Tyrosinemia patient.  Listen along as we learn about Andrew's battles with Tyrosinemia and what it is like to live with this rare condition.  Learn about the issues he and others have faced with getting medical foods and formula.  What it is like now vs When he was a child.   Chapter Markers 00:00 Intro 05:13 Diagnosi...

Send us Fan Mail Listen in as we talk with patient and biologist Aneta about Eosinophilia.    Thanks to Aneta for doing this episode last minute because of a cancelation with the original person I was going to interview. Chapter Markers 00:00 Intro 01:16 What is Eosinephilia? How has it Affected Annetta? 03:11 diagnosis 05:04 Medical foods, or formula? 05:17 Is Eosinephilia treatable with Stem Cel...

Send us Fan Mail In this episode we talk with Jessica a  Cystic Fibrosis patient about her journey with CF, listen in as she discuses here experiences growing up with CF and discusses some of the common misconceptions of CF.  She will also discuss her diet and a medical formula and medications that she puts through her g-tube.  If you are reading this please consider becoming a subscriber.  You gi...

Send us Fan Mail This video is the third episode of Nutrition Equity a podcast devoloped to promote the Medical Nutriiton Equity Act .  In this episode we talk with Susan Neeleman of the MSUD Community.  Susan is the Vice President of the New England Connection for PKU and Allied Disorders (NECPAD), the editor cf tShe is a powerful leader in the MSUD as well as the Metabolic Community as s whole. ...

Send us Fan Mail Chapter Markers 0:00:00 Intro 0:00:37 What is PKU? 0"01:48 Birth Screening 0:02:55 PKU is Not Contagious 0:03:37 PKU Testing at Home 0:05:57 How Having a Rare Condition Affects Jill 0:10:18 Are Medical Foods & Formula Covered in Utah? 0:10::56 Vitamins Considered Medical Food by the FDA 0:15:37 Pregnancy & PKU 0:17:27 Eating Out on a PKU Diet 0:18:13 Protein Tolerance...

Send us Fan Mail In this episode we talk ro Kelly Waters the national Homocystinuria (HCU) Represntative about Homocystinuria and her advocacy work.  We also discus her symptoms, diagnosis, and how you can help advance treatment.  I am working on a visual version of this podcast also which I hope to have up in a couple weeks.  It had to be retaped. Chapter Markers 00:00 Intro 00:24 introducing Kel...