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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.  

I am in the process of turning Rare Connection into a nonprofit, but I currently don't have all of the paperwork filed with the state and feds to do so.  Your support is greatly appreciated, please click on the support the show link to support us.  The podcast is monetized, I am also a caregiver and a rare disease advocate.  I have an inborn error in Metabolism, a genetic condition called Homocystinuria which is related to PKU by diet, and (we follow a low protein diet because of a problem with a different essential amino acid)  It looks more like Marfan's Syndrome and is commonly mistaken for it though.  You can also text me through the link in the show notes.  If you have a business I could also use sponsors.  Thank you for your continued support.

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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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 late.  

Daniel has a background in video editing and animation and has worked on shows like The Closer and Curb Your Enthusiasm.  Today he works at Global Genes and uses his skills to help rare disease patients tell their story through film. 

I am currently trying to turn Rare Connection into a nonprofit.  I am looking for volunteer board members to help with that.  It is a volunteer position, so you won't be paid, but it is a good way to gain experience and help the rare disease community.  Please contact me through the link in the fan mail link in the show notes if interested.  Also please subscribe wherever you are seeing this   Thanks for listening.

Chapter Markers

0:00:00 Intro
0:03:52 Diagnosis Journey
0:06:51 Challenges Daniel faced
0:09:46 Documentary about Lucas
0:13:47 Producing the documentary
0:17:01 Impact of the docimentary on the rare disease community & beyond
0:18:51 Founding of The Disorder channel
0:22:17 Motivation for the disorder channel & content found there
0:23:53 Selection process
0:25:09 Director of Community Engagement Role
0:29:08 Most rewarding moments in Daniel's career
0:31:57 How films can raise awareness & drive change
0:34:33 Advice to those wanting to share their stories
0:36:16 Choosing music that doesn't disrupt
0:38:46 Getting involved in Global Genes & supporting the mission
0:51:12 How Daniel's perspective on life has changed since his diagnosi
0:52:56 How a sibling reacts when his brother is getting all the attention
0:55:10 Advice for rare disease patients
0:58:31 Conclusion

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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 Pura Syndrome.  YOu will also learn about her family life and caring for Taylor.

Chapter Markers

00:00 Intro
02:29 PURA Syndrome diagnosis
07:30 Special diet
08:45 Biggest challenges
10:25 Typical day
14:10 Balancing caregiving responsibilities with other aspects of life
16:47 How Taylor's diagnosis has impacted Melissa's family
18:43 Inspiration for Melissa to become involved in the PURA Syndrome Foundation
20:47 Melissa's roles on committees
22:37 Resources & Support Systems
25:08 How Melissa helps PURA families find resources they need
26:21 Overcoming challenges as a caregiver
27:48 Triumphs with Taylor
29:02 Hopes for Taylor's future
30:45 Advice to new parents
33:12 Advocating & finding support
34:28 Get involved
37:19 Conclusion

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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 along as Grace talks about her daughter's struggles with MTHFR.  If you like these episodes consider tuning into my YouTube channel Rare Chef where I have cooking videos as well as the live version of this podcast.  Subscribers in both places are always welcome.   Follow the link below to donate or subscribe to my podcast.  

 https://www.buzzsprout.com/2204433/support

In addition I am trying to turn Rare Connection into a non-profit.  I need board members before I can apply for a 501c3.  If you have an interest in making a difference in the life of rare disease patients you can contact me through the link in the show notes, or by e-mailing me at [email protected].  Volunteer work is a great thing to add to your resume if you have been out of work for a while.  

Chapter Markers

00:00 Intro
02:08 Severe MTHFR explained
03:06 Diagnosis journey
10:25 Why Grace became a director on the board of HCU Network America
11:47 How Grace's backgrounNetwork America
12:57 How you can donate to HCU Network America
13:46 Biggest challenges as a child with Severe MTHFR
15:56 Balancing roles as a Parent, Teacher & advocate
17:38 Transformative moments
20:37 Resources
22:19 How medical professionals can better suppport families with Severe MTHFR
24:41 Misconceptions about Severe MTHFR
29:17 How you can tell the difference between Severe MTHFR and thecommon variants
30:52 How Grace Educates her students about Severe MTHFR
33:31 Role of education in improving the lives of rare disease patients
36:30 How schools & communities can bettersupport Severe MTHFR patients
38:53 Hopes for the future in terms of treatment 7 Support
47:41 evolbo/how Grace sees the role of Advocacy evolving in the rare disease community
48:30 Advice to new parents
50:57 How you can support HCU Network America & the work Grace is doing
52:55 Final thoughts
54:08 conclusion

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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 the show notes.    You can also check out the Facebook page and group.  

Chapter markers:
00:00 Intro: 
01: 43 diagnosis: 
02:57 Signs and symptoms
04:24 Adult diagnosis
05:28 challenges
06:49 sensory sensitivities
08:54 social life
10:10 misconceptions
12:20 achievements
12:48 goals 
13:24 advocacy
14:19  message to the public
14:55 resources
15:33 advice for those with Autism
15:57 support
16:52 Final notes
17:16 connecting with Kadin
18:06 closing 

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