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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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Shari was diagnosed with an acoustic neuroma (a rare benign tumor)  In the removal of this tumor she  had a stroke.  In her book "When  Life Gives You Lemons, Make Cranberry Juice"  She talks about the removal of this tumor and how it will forever impact her life.  Shari sees the Good things in life as the sweet "Cranberries" and the Bad things in life as the sour "Lemons"  She states that you sometimes need to take a break from the lemons to focus on the cranberries.    Shari is a Marine Biology teacher, and the speech therapist she works with was able to work this into her therapy giving her hope that she would return to work one day.  That dream has come true for Shari.    Shari's book is on Amazon in both paperback and Kindle versions.  https://www.amazon.com/When-Throws-Lemons-Cranberry-Juice/dp/B0BKRQ4TF4/ref=sr_1_1?crid=JQFNO5RPR7TM&dib=eyJ2IjoiMSJ9.bYqBdOYs34XdqDvmuDDDMdokFkucAyi_ngr2vug0nt_sFU7f-i2aOFIxqZl-wMlIHsLeFW9qZ1npRPcIxvrvrFyPm_bSlAA8ODbhtW9jeeuMOnIEZutx30vbzT4mDe6fx4_R98iNjb6wpDjv3rhnf73USl7KuEItAPPf6Cz28TU_W1kMdvQo93i1X0hV_whEXQPDpMwHQBEtEMLmnGsyNv3P0NFqVOx4Wf71fEJ49jE.CsjGBKSmTSj26byaWomawnTmfUKts07KqeoSk6QGeMY&dib_tag=se&keywords=shari+bookstaff&qid=1718853101&sprefix=shari+bookstaff%2Caps%2C138&sr=8-1

Shari also started a non-profit called Impact of Empathy https://impactofempathy.net/ This non-profit organization provides both in person workshops and zoom workshops using both lecture and hands on tools to explain how empathy can help in any situation.  

Chapter Markers

00:00 Intro
03:03 Diagnosis Story
04:13 Immediate Challenges
05:57 Speech Therapy Story
08:15 Speech Therapy
09:30 Stroke During Surgery & Shari's Recovery Process
12:37 Finding Strength & Motivation to Push Through a 9-Month Hospital Stay
13:57 Role of Support System During Recovery
15:02 Returning to Teaching Marine Biology After a Life-Altering Experience
17:26 Adjustments in Professional Life Post-Recovery
19:13 Inspiration for Lifetime of Impact
21:02 Lifetime of Impact Services & Why They Are Important
23:48 How Institutionalizing Empathy Can Change the Dynamics of Healthcare Settings
25:16 Lifetime of Impact Success Stories
26:32 Shari's Book: *When Life Gives You Lemons Make Cranberry Juice*
29:13 Message Shari Hopes Readers Take Away From Her Book
33:13 How Writing a Book Helped Shari in Her Personal Journey
34:51 Advice for New Patients
36:40 How Healthcare Professionals Can Better Support Rare Disease Patients
39:53 What You Can Do to Become More Empathetic & Sympathetic
41:05 Lessons Learned Along the Way
43:59 Conclusion

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Meet Joel Cofounder of Endurant Health.  Endurant Health has developed an AI tool to help diagnose rare disease patients.  Joel's mother was diagnosed with a rare genetic metabolic condition called Homocystinuria.  (HCU).   Together with friends who are undergoing similar battles finding proper diagnosis they founded Endurant Health to Aide in the diagnosis of rare diseases that can take so long to diagnose.   This tool is available to all income levels.    Come learn more. about this ground breaking technology that is much more than just a search engine.  

Note this is just to assist with diagnosis.  The tool can't provide a diagnosis on its own.  As always please seek medical advice before doing anything that is mentioned in any episode.  Thanks for watching.    Please subscribe on whatever platform you are on and write a review.  You can also donate to the show using the link below.    https://www.buzzsprout.com/2204433/support

To find out more about Endurant Healthspan  visit.  https://enduranthealthspan.com/

Chapter Markers

00:00 Intro
03:20 Inspiration for Endurant Health
06:11 How Joel's Mother's diagnosis affected Joel's career path
08:43 How can AI tell the difference between one rare disease and another
09:40 Goal of Endurant Health
11:22 Mission of Endurant Health
13:05 How AI Aids in diagnoses
15:15 How AI helps to overcome obstacles of diagnosis
17:08 Training & Support
19:47 The Future of AI
21:20 Personalized Medicine
22:16 How Joel's Mother's Diagnosis influenced his work
24:29 Advice for new patients
25:59 Resources for professionals who want to learn more
27:41 Key take away
28:52 Stay informed
29:22 Conclusion

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Join me as I talk to Sky ,   mother of 3 children. about her daughter Presley's diagnosis with Malan Syndrome. Malan Syndrome is an overgrowth disorder that is considered as ultra rare.  Their are only 300 cases of this condition world wide.  Join me as I ask about her 8  year journey to diagnosis, Symptoms, Her role in Co-founding The Oklahoma Rare Coalition and the Malan Syndrome's Advocacy board which also deals with Arterial Tortuosity Syndrome (ATS).   The impact that Malan Syndrome has had on her family, resources and More.  You can visit the Malan Syndrome Foundation Website by going to https://www.malansyndrome.org/  If you would like to donate to this podcast you can go to https://www.buzzsprout.com/2204433/support Please consider subscribing to Rare Chef here on YouTube.  Feel free to comment below.

Chapter Markers

00:00 Intro
04:54 Malan Syndrome Explained
06:43 Diagnosis journey
08:30 How Presley was diagnosed
09:29 Fragile X Explained
10:05 Coping with uncertainty
11:43 Inspiration for cofounding the Oklahoma Rare Coalition
14:21 Support & Resources
15:20 Impact of coalitions on family
16:22 Challenges Sky Faced as a rare Parent Advocate
18:52 Issues that need ti be addressed to improve the lives of Malan Syndrome patients
19:56 How medical professionals and the public can better support Malan Syndrome patients
20:43 Steps to take to advocate for more resources for rare disease patients
21:49 Hopes for the future
22:37 Advice for New Parents
23:37 How Presley's journey has changed Sky's perspective
24:44 Final Thoughts
26:05 Conclusion

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Join me as I welcome Jessica back to talk about Mast Cell Activation Syndrome and Growth Hormone deficiency.    Learn about how they are diagnosed.

Chapter Markers

0:00:00 Intro
0:03:40 Mast Cell Activation Syndrome Explained
0:04:03 Growth Hormone Deficiency Explained
0:05:13 Diagnosis with Growth Hormone Deficiency
0:06:23 Mast Cell Diagnosis
0:10:03 What is Triptase
0:10:58 Mast cell Symptoms And impact on daily life
0:13:02 Planning for the unknown
0:15:38 Growth Hormone symptoms
0:17:49 controlling migraines
0:19:50 Mast Cell Triggers
0:20:37 Avoiding Mast Cell Triggers
0:24:11 Treatments for Mast Cell
0:26:58 Treatmrnts for Growth  hormone
0:27:46 Dietary comonent to Mast Cell
0:30:55 Allieviating Symptoms of Mast Cell
0:33:31 Conflicts between Mast Cell & Growth Hormone
0:34:36 Coordinating care
0:39:23 Recommended Resources
0:43:39 Changes in Approach to Jessica's Medical conditions that she would like to see
0:47:06 Research & Development Growth Hormone
0:49:53 Tracking data for drug companies
51:50 Biggest success with Mast Cell
0:53:55 Biggest success with Growth Hormone
0:54:19 Advice to new patients
0:59:17 Conclusionymptoms, and triggers 

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In this episode I talk with Christina, Who is the host of Speaking in Spoons and a patient with Primary Sclerosing Cholangitis (PSC), Trigeminal Neuralgia and Hemiplegic Migraines.  

The aim of this podcast is to connect those with similar conditions, educate medical professionals, and hopefully help find treatments and clinical trials.

Chapter Markers
0:00:00 Intro
0:02:10 Zebra analagy
0:02:19 Why I switched from Nutrition Equity to Rare Connection
0:04:30 How Primary Sclerosing Congelitis diagnosis
0:13:30 Clinical trial for Primary Sclerosing Congelitis
0:14:46 Balancing uncertainty of multiple rare conditions with maintaining hope for future treatments
0:19:04 Making sure PSC recieves attention
0:23:33 Trigeminal Neuralgia Diagnosis
0:29:39 Trogemonal Neuralgia triggers
0:30:39 Navigating life with intense pain
0:33:26 Treatments for Trigminal Neuralgia
0:35:00 Educating others about Trigeminal Neuralgia
0:39:51 What a hemiplegic Migraine feels like
0:51:04 Hw to tell the difference between a regular migraine and a hemiplegic migraine
0:53:44 How Hemiplegic Migraines effect Christins=a's ability to participate in every day activities
0:58:31 Advice for Hemiplegic Migraine patients
1:01:47 Conclusion

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Dubbed the man who died twice and Hod brought back to life, Kevin Hills Story appears in 45 national and international Newspapers and Magazines.  Listen along as I talk with Kevin about his medical conditions Calcifylaxis and Multiple Endocrine Neoplasia Type 1(MEN1).  You can see the full video on YouTube on my channel, Rare_Chef.

Chapter Markers 

0:00:00 Intro
0:01:50 stroke diagnosis
0:03:42 Multple Endocrine Nepplasia 1 diagnosis
0:08:06 Calciphylaxis Diagnosis
0:13:39 Weight loss
0:15:41 Blood loss Levels
0:17:46 Near death experience
0:23:40 Kevin Meets other Caliphilaxis patients
0:27:31 Facebook Group for MEN 1
0:29:50 Maintining positivity & hope
0:38:48 Raising awareness
0:46:53 Calciphylaxis study
0:51:09 How Kevin's conditions have  chenged him
0:57:22 Advice to others
1:06:15 Why you should check to see if you still need all your meds
1:08:22 Advamce,emts Kevin hopes to see in the medical field
1:15:35 Biggest lessons Kevin has learned on his journey
1:28:19 Most pressing needs of the rare disease community
1:31:06  Conclusionnnel Rare Chef also as well as many cooking videos.

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