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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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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 can learn about the Medical Nutrition Equity act (MNEA) at nutritonequity.org.  and you can learn about newborn screening and what conditions it covers in your state at https://newbornscreening.hrsa.gov/your-state  If you visit the MNEA website please fill out the form and right your local house and senate especially if you have a republican in your state that might reintroduce the bill.  Newborn screening has been up for reauthorization for the past few years and it hasn't passed in all states.  As long as Newborn Screening doesn't have funding new tests can't be added putting young lives at risk.

Chapter Markers

00:00 Intro
05:27 Diagnosis story
13:20 Fellings about the diagnosis
15:39 Challenges And difficulties in the beginning
21:07 Managing diet &sources of support
26:35 How Valerie helps Summer overcome obstacles &limitations of HCU
33:12 Barriers in accessing quality care
39:25 Why Valerie supports The Medical Nutrition Equity Act and how it would help patients
43:54 Summer's Achievements & milestones
47:06 Conclusion

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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
08:18 Callenges of Cobalamin G
12:53 Difference between a regular B-12 shot and Hydroxycobalamin
18:07 Key Goals for HCI Network Americ to advocate for change
21:05 obsticales patients face with access to nutrition
30:34 How the death of drew helped drive Britany towards policy change
32:27 Misconceptions
36:04 Bridging the political divide for the Medical Nutrition Equity Act
37:58 How you can support the push for the Medical Nutrition Equity Act
39:33 Story that reafirms the significance of Brutany's work
45:09 Call To Action
46:53 How the HCU Network America resources are created
49:39 Conclusion

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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 Diagnosis Story
07:17 How life has changed since Andrew is on Medication
09:06 Medical Formula & diet
09:59 Difference between PKU & Tyrosinemia
11:01 Cognitive issues
11:44 First Meeting with other Tyrosinemia patients
13:09 Tyrosinemia on a Daily basis
16:58 Challenges faced with accessing treatment
19:38 How The Medical Nutrition Equity Act would possitively impact Tyrosinemia patients
20:34 Texas coverage for Medical foods, & Formula
21:17 How greater awareness can help in advancing policies
21:55 Personal stories
23:30 Importance of medical foods for patients with rare conditions
26:20 Normal blood level
27:23 Cnclusion

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