Rare Connection

Send us Fan Mail 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 those who need them.  At the beginning of last season in February Nutrition Equity became Rare Conne6892ction to cover more conditions and allo...

Send us Fan Mail 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 Dysplasia is a rare genetic condition characterized by the bodies inability to sweat, sparse hare, tooth loss and ear, nose and throat issues.  Mason...

Send us Fan Mail 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 clinical trials for it.  Go to clinicaltrials.gov for more information if your child has it.  Babies won't show signs often until it is to...

Send us Fan Mail 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 roles with the Pura Syndromde Foundation over the years from working on the grants committee, to fundraising to being a US ambassador for Pur...

Send us Fan Mail 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 diet like classical HCU.   In addition to being a parent with this rare condition, Grace also is a director on the board with HCU Network America.   Follow alon...

Send us Fan Mail Listen along as I talk with Kadin about High Functioning Autism.  Listen to Kadin's diagnosis journey.  Find out about the signs and symptoms in both children and adults, How Kadin is getting along in college, and is aspirations for the future.   I am trying to turn this podcast into a Nonprofit, and I need board members if you are interested contact me through the link in th...

Send us Fan Mail Shari was diagnosed with an acoustic neuroma (a rare benign tumor)  In the removal of this tumor she  had a stroke.  In her book "When  Life Gives You Lemons, Make Cranberry Juice"  She talks about the removal of this tumor and how it will forever impact her life.  Shari sees the Good things in life as the sweet "Cranberries" and the Bad things in life as the s...

Send us Fan Mail Meet Joel Cofounder of Endurant Health.  Endurant Health has developed an AI tool to help diagnose rare disease patients.  Joel's mother was diagnosed with a rare genetic metabolic condition called Homocystinuria.  (HCU).   Together with friends who are undergoing similar battles finding proper diagnosis they founded Endurant Health to Aide in the diagnosis of rare diseases t...

Send us Fan Mail Join me as I talk to Sky ,   mother of 3 children. about her daughter Presley's diagnosis with Malan Syndrome. Malan Syndrome is an overgrowth disorder that is considered as ultra rare.  Their are only 300 cases of this condition world wide.  Join me as I ask about her 8  year journey to diagnosis, Symptoms, Her role in Co-founding The Oklahoma Rare Coalition and the Malan Sy...

Send us Fan Mail Join me as I welcome Jessica back to talk about Mast Cell Activation Syndrome and Growth Hormone deficiency.    Learn about how they are diagnosed. Chapter Markers 0:00:00 Intro 0:03:40 Mast Cell Activation Syndrome Explained 0:04:03 Growth Hormone Deficiency Explained 0:05:13 Diagnosis with Growth Hormone Deficiency 0:06:23 Mast Cell Diagnosis 0:10:03 What is Triptase 0:10:58 Mas...

Send us Fan Mail In this episode I talk with Christina, Who is the host of Speaking in Spoons and a patient with Primary Sclerosing Cholangitis (PSC), Trigeminal Neuralgia and Hemiplegic Migraines.   The aim of this podcast is to connect those with similar conditions, educate medical professionals, and hopefully help find treatments and clinical trials. Chapter Markers 0:00:00 Intro 0:02:10 Zebra...

Send us Fan Mail Dubbed the man who died twice and Hod brought back to life, Kevin Hills Story appears in 45 national and international Newspapers and Magazines.  Listen along as I talk with Kevin about his medical conditions Calcifylaxis and Multiple Endocrine Neoplasia Type 1(MEN1).  You can see the full video on YouTube on my channel, Rare_Chef. Chapter Markers  0:00:00 Intro 0:01:50 stroke dia...

Send us Fan Mail In this episode I talk with Nico who has Congenital Central Hypoventilation Syndrome (CCHS).  Nico worked for CCHS Network inc.  which his mother started.  He revamped the website and planned a global conference for CCHS patients.   After losing friends to CCHS he decided to branch out and work with people with disabilities at large.  He became a guest on podcasts, and started his...

Send us Fan Mail In this episode I talk with Layna (parent and advocate with Hope for PDCD https://www.hopeforpdcd.org/) .  PDCD is a inherited metabolic condition that has to do with Carbohydrate metabolism.  They follow the Keto diet.  Layna is responsible for fundraising, education, social media, education, and advocacy.  She has a youtube channel of her own https://www.youtube.com/@laynaoconno...

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...