Rare Connection

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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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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 Cells?
06:29 Why personalized nutrition is essential for people with Eosinephilia?
11:23 As a biologist How has your background influenced you understanding nutrition
13:09 how personalized nutrition has impacted Annetta's life
15:35 advice to other patients
20:56 How Eosiniphelia affects Annetta when her levels are high
22:43 how low levels affect Annetta
24:45 Is it Eosininephelia or an allergy?
25:37 Conclusion

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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 give financially at https://www.buzzsprout.com/2204433/support or through the link at veganandlowproteincooking.com through the cash app.  I am zebrastripesHCU on 

Chapter Markers

0:00:00 Intro
0:02:44 What is Cystic Fibrosis? CF
0:04:23 Diagnosis journey
0:09:32 How specialized nutrition has benefited Jessica?
0:25:54 Help Copays Act
0:27:48 coping with the emotional & psychological aspects of CF
0:35:52 Support system
0:39:26 Advice to Other CF patients
0:46:44 How The Medical Nutrition Equity Act would help CF Patients
0:51:25 How CF has influenced Jessica's life & how sge prioritizes
0:53:47 Misconceptions
1:01:31 Conclusion

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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.  She MSUD Family Support Group news letter, and she is also the MSUD Chair in Canada.

Chapter Markers

00:00 Intro
02:15 What is Maple Syrup Urine Disease MSUD?
03:28 How MSUD differs from Diabetes
04:15 Diagnosis
06:03 Susan's role at the MSUd family Support Group
06:39 Susan's role at CANPKU+
07:15 Susan's Role at the New England Connection for PKU & Allied Disoorders
07:53 Unique Challenges to MSUD Patients
09:51 Steos that can be taken to improve Nutrition equity
13:53 New Treatments & Therapies
15:39 Ensuring equal access to all
16:23 Inspiring stories of MSUD patients
17:42 Resources & support
19:01 /hopes for the future
19:29 Conclusion

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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
0:19:42 Calories Need to Be High
0:20:32 Pregnancy, Diet, & PKU
0:22:33 Palynziq & Pregnancy
0:25:10 Nursing with PKU
0:27:26 Healthcare by Location
0:28:40 Cheating on Diet
0:29:10 Sibling with PKU
0:30:36 Being Around High-Protein Foods
0:36:40 Medical Foods and Texture
0:39:50 PKU Blood Level Range
0:40:09 Missing an Injection
0:41:57 Tracking Diet
0:47:53 What 8 Grams of Protein Per Day Looks Like
0:48:24 At Least 60 Grams of Protein Per Day
0:49:42 Sleep & PKU
0:50:42 Going Off Diet as a Child
0:52:26 Going Back on the PKU Diet
0:52:55 Altering Recipes
0:53:58 Diet by Location
0:57:22 Peer Pressure
1:01:07 Why Many Cheat
1:03:01 Turning Point
1:05:44 Medical Gaslighting
1:07:04 High Cost of Medical Foods
1:08:50 Why Doctors Need More Rare Disease Education
1:10:39 Amino Acid PHE Isn’t Just in Food
1:17:33 Contacting Legislators
1:17:52 Conclusion

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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 Kelly
00:52 What is Homocystinuria AKA HCU?
01:22 Diagnosis & symptoms
04:00 Medical Foods
04:34 Kelly/s mother tells her she has HCU
07:15 How Kelly became the National HCU Representative
09:27 Eye Surgery
12:31 Kelly Meets Danae Bartke the Executive Director of HCU Network America
14:00 Newborn Screening in Michigan
15:54 Coverage varies from State to state
17:39 Getting through to Reps that aren't in the same state'
18:19 Baby Formula Recall Affected Medical Formula also
23:25 Cystadane AKA Betaine
25:37 Medical cheeseyou can have a medical condition without symptoms
27:47 Kelly is not paid for her work
28:14 How you can help
28:25 You can have a medical condition & not have all the symptoms
31:13 HCU life expectancy story
36:05 Travel for care
37:03 Messed up labs
39:06 Clinical trial for HCU
46:28 Extreme myopia
47:13 Conclusion

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