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Not many think of men when they think of breast cancer.  Phil found a lump under his left breast while playing with his daughter Evie.  Join me as i delve into this important topic.  Find out what to look for the symptoms, treatment, about various support groups and more.  You can contact me to let me know you thoughts through the link in the show notes.  Don't forget to leave a review and please subscribe on whatever platform you are listening on.  The audio is improved on this version of the podcast.  I hope  to have the video version fixed soon.  

I am trying to turn my podcast into a nonprofit by the same name Rare Connection.  I am looking for patinate people who are willing to commit to one year.  this is a volunteer position, so you won't be paid, however it is a great opportunity to gain valuable experience,  I am looking for people with fundraising leadership, and public speaking experience.  This job is a remote position, so it can be done anywhere,  You must speak English (American) though.  Please contact me at [email protected].  I look forward to hearing from you.  You can also sponsor the show using the following link.  Any amount will help.

https://www.buzzsprout.com/2204433/monetization/supporter_settings

Thank you

Chapter Markers

00:00 Intro
03:00 Phil Finds a lump
05:14 Phil didn't instantly link his lump to breast cancer
05:52 Phil went directly to the doctor
09:54 Diagnosis process
12:56 How Phil's healthcare team handled the kump
15:13 Treatment
18:35 Emotional aspect
20:32 What Phil wished he would have known or done differently
23:40 support groups
25:32 telling the family
27:39 advice Phil would have given himself & others
29:01 peer support
32:00 conclusion

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Erika is the parent of 24 year old nonverbal adult Alexa.  Erika is talking for Alexa in this episode,  Learn about Alexa's story, Learn how Erika communicates with Alexa, their struggles getting a diagnosis, The Medical Nutrition Equity Act and sources that can help with of Medical Food Formula and vitamins that are imperative For those on a metabolic low protein diet to live.   I mentioned NORD in the podcast at one point, for those not familiar NORD is the National Organization for Rare Disorders.  

i am trying to turn this podcast into a nonprofit.  I am actively seeking board members, This is a volunteer position so you won't be paid, but it is valuable experience especially if you are out of work and have a gap in your resume.  Board members will be expected to lead committees, so I need someone who can commit to atleast a year.  I am looking for people who are organized, have experience with fundraising, have leadership experience, and like to travel.  As we get the funds their may be travel opportunities available.  Advocacy experience is a plus.  If you or someone you know has a rare disease this will also help since this nonprofit is all about rare diseases.  

The mission of my nonprofit is the same as the podcast,  To connect rare disease patients, to educate medical professionals and the public, and to find clinical trials for the 95% of rare conditions that lack FDA approved treatment.  The first 2 I am already doing through a facebook group and page as well as the podcast.  I also have started and email list with some of my guests.  Clinical trials take funding, so I can't fund them till after we are up and running for awhile, but I can help find them and do recruiting if you know of one or are running one.  Please contact me [email protected]

Chapter Markers

0:00:00 intro
0:03:34 diagnosis story
0:17:11 Age at diagnosis
0:17:49 communication
0:19:18 Erika communicates with Alexa on camera
0:20:51 Lense dislocation
0:21:16 Daily life
0:23:42 How Erika feels about newborn screening
0:31:10 Erika opts out of lensectomy
0:32:24 Advice for newly diagnosed
0:35:45 Medical foods
0:37:21 How Erika deals with the cost of medical foods
0:41:58 Challenges at the beginning
0:44:51 How Erika Ensures that Alexa gets the best possible care
0:51:58 Clinical trial
0:55:53 good moments with Alexa
0:57:18 hopes for the future
0:59:57 conclusion

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Denise's  child Rileu is one of few that I have spoken to that was diagnosed through newborn screening.  Although Homocystinuria is on the Newborn Screening Nationwide it only catches a case 50% of the time.  We are working on enhanced Newborn screening but newborn screening saves lives has not been reauthorized yet.  

Chapterr Markers

00:00 Intro
02:39 How Denise's family processed the abnormal Newborn Screening results
04:43 Hardest part
07:10 Denise was told to mix milk in with Riley's formula and she is on a low protein diet.
09:59 how Denise dealt with the specialize formual and vitamins
11:41 managing diet as riley grows
15:14 Managing Formula & diet with activities
18:34 Favorite foods
24:54 school parties and food items
26:56 504 plan
27:36 clinical trial
30:18 How Denise's support network helps her navigate life with HCI
34:19 School communication
37:29 Hopes for Riley's future in terms of health & personal goals
40:05 most rewarding part
42:51 changes in public understanding
43:57 What Deise does for Homocystinuria Awareness Month
45:09 Most mistunderstood part of Classical HCU
48:36 What does denise mean by"Living like Rockstars"
50:06 Advice to others
50:55 Conclusioniet formula, how she works with the schools and more

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This episode marks my second HCU Awareness month doing podcasting, and my 3rd international episode,  In this episode I talk with Anna about her 12 year old daughter Juana who was diagnosed with Classical Homocystinuria.  She was the first to be diagnosed with Classical HCU in Uruguay. Learn how Anna gets testing done in a country where Homocystinuria is not known about.    The struggles they face with getting medically prescribed foods and formula.  How they spread awareness, and how they  deal with the social pressures of HCU.

Chapter Markers

0:00 Intro
04:11 Diagnosis story
10:20 Early signs that led to testimg
13:39 Getting low pro foods & formula in Uruguay
17:47 Callenges faced in maintaining a consistent treatment plan
19:39 Daily life as far as school, extra caricular activities and social interactions
23:19 Low protein diet
26:31 Educating medical proffessionals
29:05 Improvements Anna would like to see in Uruguay
30:39 Newborn screening in Uruguay
32:03 How connecting with HCU Network America affected Juana
33:39 Insights into Juana's perspective on living with HCU
38:13 Life expectancy and undiagnosed
39:00 Hopes for the future
40:20 Advice to other HCU parents & patients
41:44 HCU Awareness activities
44:18 Resources
45:23 Conclusion

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Briana's son was diagnosed with Maple Syrup Urine Disease and Chronic Intestinak Psuedo Obstruction,  He will be undergoing a dual transplant of both the small intestine and the Liver.  Liver transplants have been known to cure Maple Syrup Urine Disease,  Both conditions are covered by the Medical Nutrition Equity Act which would mandate that health insurance cover the cost of medical foods, formula and vitamins nationwide.  The bill was reintroduced into the House in December of last year and we are now looking for a Senate republican to reintroduce the bill into the senate.  Please write your representees and ask them to sponsor HR 6982 championed by representative McGovern and If you have a republican senator ask them if they would be willing to reintroduce this Life saving bill. 

S3pt3mber is also Newborn Screening Awareness Month and Maple Syrup Urine Disease is on the Newborn screening panel in all 50 states,  Junior was not picked up by newborn screening, but many are missed sadly.  Newborn Screening is up for reauthorization and needs vital funding to be able to ad more conditions to this live saving bill and get the children treated before it is to late.  

This is the second episode in a row where I have talked to transplant recipients.  Please consider becoming a donor.  You could be saving someone's life.  

Chapter Markers
0:00:00 intro
0:03:25 early signs
0:09:27 Junior has MSUD, but doesn't carry the gene
0:11:09 Chronic intestinal pseudo obstruction
0:16:50 daily life & the biggest challenges jn Managing Juniors conditions
0:22:10 Managing nutrtional needs
0:25:41 Navigating the healthcare sysrem
0:32:55 How a liver transplant could potenntially change Junior's condition
0:38:38 Support needed during & after transplant surgeries
0:45:00 Benefits & risks of transplants
0:49:09 Importance of MSUD to be on the Newborn Screening panel
0:54:53 Medical Nutrtion Equity Act Impact on Briana's families life
0:57:08 Getting involved in advocating for the MNEA
1:02:54 self care
1:06:28 Resources &support Networks
1:09:52Advice for new parents
1:11:54 Conclusion

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This is an audio playback from the live version of my podcast earrlier today with Damien.  If you were listening to the live version, I rerecorded my part to make it clearer.  I am hoping that upgrading my internet plan will help with the video version.    

This episode is on Dyskeratosis Congenita (bone marrow failure) by means of Short Telemere Syndrome (Diysfunctional Chromosomes/DNA).  Damien is an retired US Air Force Vet from Arizona.  He was a flight engineer for the Air Force,  He followed his dream to fly until he was involved in a car accident and the health issues he had ignored caught up with him.  He has had 2 bone marrow transplants.  We also talk briefly about the dog that helped him throught the trauma.  Please subscribe to my YouTube channel Rare Chef and this podcast wherever you are listening.  Shorts for this live may be delayed because of a trip to Atlanta, but they should be up by Friday. 

Chapter Markers

0:00:00 Intro
0:03:39 Early symptoms
0:07:21 Air Force picture
0:10:26 Balancing Demands of Military Life
0:12:06 Challenges of an accurate diagnosis
0:16:07 Managing  life as a flight engineer
0:18:20 coping on daily life
0:23:25 support from community
0:25:42 service dog
0:33:10 Transfusion before 2nd transplant
0:37:23 How Damien Managed his health after the loss of his father
0:41:05 support system
0:43:26 Day to Day life
0:48:34 military survival school
0:52:57 Volunteer work
0:55:49 treatment process
0:59:10 clinical trials
1:01:00 advice to others
1:07:30 what could Damien have done differently
1:09:13 Biggest takeaway from Damien's journey
1:11:08 Damien's message to future donors & how the gift has changed his life
1:15:52 Benefit of sharing your story
1:19:00 conclusion

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Despite Congenital Muscular Dystrophy not being tested for at birth, some companies are working on getting it passed.  This is Newborn Screening Awareness Month.  Since the bill hasn't been reauthorized in all states lack of funding could be harming those who are born with new conditions that may or may not be able to be tested depending on the state.  It is important to raise awareness for this important cause.  That is why I have made September about Newborn Screening   Among rare diseases it can be hard to find people with conditions on the newborn screening.    Many still know of newborn screening as the PKU test since it is the first condition that it tested for.  Some also know it as the heal prick.  Newborn Screening now tests for over 75 different genetic conditions as well as a hearing test.  Some conditions also that aren't intentionally tested for may also be picked up.  This episode is mostly about newborn screening, but their are other aspects of CMD as well as the foundation Cure CMD.  You can visit the website at curecmd.org.  Do to a choppy recording my part was rerecorded after the interview for the most part and is probably clearer hear than on the original video podcast.  I will work on finding a different location in my home for future broadcasts.

Chapter Markers

00:00 Intro
02:39 The importance of Newborn screening
03:42 Congenital Muscular Dystrophy is not screened for at birth
04:18 How Newborn screening could better identify 
05:20 On average it takes 7 years to get a diagnosis for rare diseases
06:32 Kelly's diagnosis story
07:11 Early symptoms
08:13 Difference between Muscular Dystrophy and Multiple Sclerosis
09:15 Care guidelines
10:41 Pain with Muscular Dystrophy
11:54 Preventing bed sores
12:55 Self transfer
13:39 Iniatives
15:25 Campaigns
16:45 Growing community
18:02 Advice to newly diagnosed
19:30 How life has changed for Kelly since diagnosis
20:41 Conclusion

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Patrick James Lynch is a Hemophilia patient, and advocate, fim maker and podcaster.  His films include Bomardier Blood, Deliver Us and My Beautiful Stutter as well as many others,  He has been won several awards including the Rare impact award from the National Association for Rare Disorders (NORD) the Meritorious service award in and he has also been a keynote speaker for the World Federation of Hemophilia WFH.  Patrick dedicates his work to his brother who sadly passed away in 2007 at the age of 89.  His brother was also a hemophilia patient and a retired news anchor from Pittsburgh, PA.  Patrick now lives in California where he continues to film and advocate for rare conditions through story telling. 

 Please subscribe to my YouTube channel Rare Chef so that you don't miss an episode  You can also subscribe on whatever platform you are listening to this on.  Feel free to use the link in the show notes to text me.  I would love to hear from you.  You can also visit my website rareconnection.org to join my email list, and connect with other rare disease patients, signup for my podcast, and stay updated as rare connection becomes a nonprofit.  Finally you can join our Facebook group and visit the Facebook Page.

Chapter Markers

00:00 Intro
04:01 Hemophilia explained
05:43 Patrick's brother had hemophilia also
06:04 Genetics
06:53 Path to Film Making & Advocacy
13:51 How Adam's memory has shaped Patrick's approach to Advocacy and story Telling
15:32 Transgorming challenges into advocay
19:22 Inspiration for believe Limited 
21:11 Coming up with a name for the company
23:06 How awards have influenced Patrick's work
25:20 Key messages from speaking engagements
28:41 Potential for advocacy extending to other diseases
31:09 Upcoming projects
35:05 Advice to Others
38:18 Long term Goals
40:10 conclusion

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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 allow me to go outside the country.  House bill 6892 was reintroduced into congress by representative McGovern. 

Long Chain Hydroxy Coenzyme A Dehydrogenase Deficiency (LCHAD) is an Inborn Error in Metabolism.  Join me as I talk to Alexandra about how she was diagnosed, her podcast "Positively Walking with Mito<" Advocacy, Advice and hopes for the future as well as the Medical Nutrition Equity Act and how it would help those with LCHAD. 

 We are currently seeking a Senate Republican to champion the senate side.  If you are in the US you can help us to get this bill passed for countless individuals.  12 episodes of Nutrition Equity were filmed before it became Rare Connection.  We also now have a website.  rareconnection.org If you are interested you can join our email list, read about our board members that currently have bios up, and more.  Some of the episodes and shorts are also on their.  

Chapter Markers

00:00 Intro
03:04 LCHAD explained
03:37 Alexandra's symptoms
04:57 Medical formula
05:45 Diagnosis process
08:06 Resilience & adaptation
10:00 Inspiration for Positively Walking with Mito
11:58 Balancing raising awareness with managing health
13:33 Importance of the Medical Nutrition Equity Act
15:59 How you can support the MNEA
17:40 Daily challenges
20:09 Tracking fat & calories
21:40 Measuring by scale
24:28 Role of medical foods & formula
26:10 Spoon theory
28:18 Going over on fat
29:28 Advice for newly diagnosed
31:32 Hopes for the future of rare disease treatment
34:00 Newborn Screening Bootcamp
34:50 Future advocacy goals
35:44 Conclusion

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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 is missing all except 2 of his natural teeth and so he has to wear dentures to be able to eat and carry on a conversation.  This condition involves a lot of therapy with both speech therapy and therapists that specialize in feeding.  

Chapter Markers

00:00 intro
02:15 diagnosis journey
03:28 How Rebecca found out she was a carrier
05:10 Hypohydrotic Ectodermal Dysplasia explained
06:29 Initial thoughts
07:46 Resources & support networks
09:03 Tools to prevent overheating
11:10 Dental care
13:12 Soft food diet
13:50 feeding tubes
14:43 Ear, Nose & throat &respiratory issues
16:47 Support from the medical community
17:56 support system
18:59 Advice to new HED Patients
19:37 Misconceptions
20:58 Advocating for Masson
22:26 Hopes for the future
23:37 How being a parent of a child witha rare disease has changed Rebecca
25:28 Most rewarding part
26:20 Advice to younger Rebecca
27:05 conclusion

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