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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 own series now on YouTube called “Your Disabled Joy.”
  
Join me as I talk with Nico about his journey both past and present and about CCHS.

Chapter Markers

00:00 Intro
03:33 How CCHS effects Nico's daily life
05:43 Nicco;s role on the board at the CCHS Family Network
07:21 Diagnosis journey
08:40 Why Nico left the CCHS Family Network
10:29 Why Nico started Your Disabled Joy
14:09 What Noco has learned from his gyests
15:14 Projects Nico is working on As the Philidelphia Mayirs Commission on people with disabilities
17:27 Nico's Most rewarding aspects of his involvment with Awsome disability
19:52 Nico's Support group Off The Record
21:15 balancing advocacy work & self care
22:44 Advice for others
24:51 Hopes for the future of disability Advocacy advocacy
27:21 Conclusion

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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/@laynaoconnor5382 You can donate to Hope for PDCD with the link above.  In addition to being a leader with Hope for PDCD, she is also a parent of a child (Piper) who has PDCD.  

Listen as we talk to Latna about her piper's story and how she was diagnosed,as well as her role with Hope for PDCD and other tools that may be helpful if you are a parent of someone with PDCD or have it yourself.  Most die before they reach adulthood or are severly disabled unfortunately.  

This like all other episodes are originally filmed on YouTube Live and transfered to buzzsprout who then transfers them to other podcasting stations.  This can take up to 24 hours.  They are also posted to Linkedin, Facebook, X, and later turned into shorts for TikTok, and YouTube.  

Chapter Markers
00:00 Intro
03:35 Inspiration for Layna Joining Hope For PDCD
06:10 How piper was diagnosed
06:58 How PDCD Differs From Diabetes
08:27 overcoming challenges of PDCD
11:04 Projects & iniatives
15:37 Symptoms and how they affect daily life
16:47 Medical Formula
21:37 Enhancing Education & research
25:21 Advancements in Research
28:07 Advice For other Parents
32:24 Conclusion

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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 studies at PRATT University.  You can check out other episodes of the podcast here, on YouTube both in audio and visual formats, and wherever you get your podcasts.  Donations through buzzsprout to support the show are always accepted and you can also pick up a t-shirt through Buzzsprout to support the show and my YouTube channel.  If you are interested in being on the show and have a rare condition you can contact me through my YouTube channel Rare Chef through the about tab.  Advocates are almost always accepted especially if you have a rare condition that has to do with dietary issues, or a symptom of one of the rare conditions.

Chapter Markers

00:00 Intro
02:17 POTS & Gastroparesis on a daily basis
04:42 Gastroparesis diagnosis
06:10 POTS Diagnosis
08:22 How Charliegh's medical conditions affect her academic journey and pursuit of writing
12:33 inspiration for Charleigh's book Deamon Scout
13:34 Inspiration for charlrigh;s book Rule 25 Don't Fall For The Targrt
14:26 Theme's & messages explored in Charleigh;s writing
15:34 how Charleigh Finds The Strength to pursue her goals despite her challenges
16:55 Advice for others
17:42 How charleigh's medical cinditions unfluenced her books
19:30 What Charleigh hopes readers take away from her books
20:13 Future goals
21:00 Where Charleigh gets her inspirs=ation
22:14 Conclusion

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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 transition from Special Ed to writing
13:05 Most challenging thing since Wendy left teaching
14:31 Inspiration for Wendy's book Kiss You Love Goodbye
17:26 How Wendy's medical conditions shaped her perspective on life & creativity
19:55 Dealing with writers block
22:36 Emotions & Experiences that inspired Wendy's poems
26:10 Maintaining positivity & hope
28:09 Advice for other patients
34:26 Hobbies that help wendy navigate Life;s ups & downs
37:17 I Am Not My Disease from Kiss me Love Goodbye
40:37 Hopes for the future
42:48 Conclusion

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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 advances in medicine the oldest known person alive with it is well into her 70's.  Everyone has a set amount of protein that can have per day normally anything above 20 grams per day is considered high.  Patients not only follow a low protein diet, but they also take a medically prescribed formula that is a lifelong thing.

Chapter Markers

00:00 Intro 
04:26 Jenifer's diagnosis story
05:34 challenges as an older HCU patient
06:14 Homocystinuria explained
06:12 Symptoms
07:50 Jenifer's age
08:24 Misconceptions 
09:01 blood clot (Heart =heart attack, Lungs = Embolism. brain = stroke legs= deep vein thrombosis)
09:40 How HCU has shaped Jenifer's perspective on advocacy
10:40 Support Networks & resources
11:59 Protein daily tolerance
12:39 Medical food& Formula coverage in Canada
14:41 Most pressing issues facung the rare disease community today
15:21 Advice to others
18:06 Advancements in research
19:38 Jenifer;s role in Advocacy
20:24 Conclusion

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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 amounts like you would find in nut or seed milk are ok.  Jessica has a nut allergy and depends on oat milk instead of the nut milks.  She also talks about her challenges with the healthcare system and how her diets with Homocystinuria and Diabetes are complete opposites.

Chapter Markers

00:00 Intro
02:55 Diagnosis journey Homocystinuria
08:17 Diabetes diagnosis
11:42 Foods to avoid that many may not know about
14:19 Daily struggles and choices
15:20 Clinical Trial for Homocystinuria
15:57 Diabetes wins the battle over Homocystinuria
20:06 obstacles of getting medical foods & Formula
25:07 Role of the Medical Nutrition Equity Act (MNEA) in Jessica's life
28:09 Advice to others in similar situations
30:16 Finding support & coping mechanisms
33:17 Advice for new diabetes patients
34:38 misconceptions about diabetes & Homocystinuria
37:03 Hopes for the future
38:41 Support Networks that have been helpful
39:49 How you can get involved
41:05 Conclusionhe finds support.  #DiabetesAwareness #Homocystinuria #WhyNow4MNEA

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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 who almost lost his life to Cobalamin G.  Kodi suffers from Seizures and Cerebral Palzy as a result of late diagnosis and he is also tube fed through a feeding tube that is surgically inserted into his stomach.  Thanks to a medical student he lives today.  He is can say a couple words, and he signs, but for the most part at 3 years old he is non-verbal.    If you would like to help us fight for the Medical Nutrition Equity act please visit nutritionequity.org.  On the website you can read patient stories, see state by state coverage, write your senate and house reps and much more.  Please consider subscribing to this podcast and writing a review.  You can also support the effort by donating to it, anything you are willing to give could greatly help the cause.  Thanks you for listening. https://www.buzzsprout.com/2204433/monetization/supporter_settings

Chapter Markers

0:00:00 Intro
0:02:33 What is Cobalamin G & how does it effect Heather's Families lives
0:07:46 How Cody was diagnosed
0:14:34 Daily Struggles
0:22:18 Cody's favorite foods
0:31:42 How the passage of the MNEA would help Cody
0:34:12 Milestones Achieved as an advocate
0:37:34 Personal stories
0:41:32 The need for awareness & support for people with metabolic disorders
0:43:42 How you can understand and empathise with metabolic patients
0:48:01 Resources
0:51:12 Hopes for the future
0:53:03 Advice for newly diagnosed patients
0:55:56 Conclusion

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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)  He also discusses his website HCU Support hcusupport.com  To learn more about the medical nutrition equiyt act please visit nutrionequity.org.  

Chapter Markers

00:00 Intro
03:00 Diagnosis journey
05:27 Managing HCU on a daily basis
08:34 Motivation & goals for Barahat;s Advocacy
09:40 Motivation for Barahat;s website HCU Support
11:50 Taste Connections products
12:46 Baharat's work at Taste Connections
13:49 How the Medical Nutrition Equity Act could Positively help people with HCU
14:41 Coverage in California
15:36 Advice for other patients
16:22 Most rewarding part of Barahat's Journey
17:34 Barahat;s favorite restaurants
18:12 Hopes for the future
18:47 Conclusion

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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 Homocystinuria and the differences between them as well as the upcoming Externally Led  Patient focused Drug Development Meeting later this month with the FDA which could potentially bring new treatment For Classical Homocystinuria.  We will also talk about resources that may be of help.  You can find out more about the bill by going to https://nutritionequity.org/

Chapter Markers

00:00 Intro
02:56 Garrett and Danae's Journey with Homocystinuria and how it has affected her and her family
06:03 Danae's role as Executive Director of HCU Network America
08:22 3 Types of Homocystinuria
12:16 Severe MTHFR is not tested for on the Newborn Screening
13:53 How the Medical Nutrition Equity Act helps those with Classical HCU and Cobalamin disorders
16:49 Challenges of getting Medical Foods, Medical Formula and Vitamins
18:50 Externally Led Patient Focused Drug Development Meeting
25:42 How you can help those with Homocystinuria
28:02 patient stories
31:01 How you can get involved and find out more
32:32 hopes for the future
36:11 Conclusion

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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/  You can learn about the Medical Nutrition Equity Act at nutritionequity.org.

Chapter Markers

00:00 Intro
03:15 What is Short Bowel Syndrome?
05:13 Andrew's diagnosis story
07:42 Inspiration for Short Bowel Syndrome inc?
10:55 Primary objectives of the Short Bowel Syndrome Inc
11:37 How SBS affects Andrew's Life
13:15 Medical formula?
16:51 How the MNEA can help Short Bowel Syndrome patients
19:01 Why the MNEA is essential to Short Bowel Syndrome patients
20:07 Andrew's role as a physician advisor
23:19 patient success stories
25:01 How you can help
27:04 hopes for the future
28:29 Research trials
28:47 Conclusion

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