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Melissa was 17 when she had her first child Evan.  Evan was born with a cleft palate and developed 30 other conditions throughout his life.  He wasn't expected to live and doctors told her to take him home and let him pass naturally.  She was given what she calls a never list (He will never sit up, he will never talk, he will never stand etc).  She was told she could have other children.  When she did become pregnant again when she was older in life she  had an abortion,  Her and her husband used protection, but she still got pregnant.  

Four months after Evan's birth he was diagnosed with a rare chromosomal condition that 4q deletionoesn't have a name.  She refers to it by the genetic code,  46xy 4q (32.3) 4 6 Trisomy.  Everyone has 46 chromosomes 23 from each parent.  The xy chromosome is the male chromosome ( This condition is passed down from the father).   Chromosomes are divided into arms The q arm is the long arm and the p arm is the long arm.  4q32.3 refers to the specific region of the long arm of chromosome 4.  4q deletion refers to an additional deletion of chromosome 4 on the long arm. 4q deletion causes growth delays, facial differences (Evan has stork bites which look like a rash, and cleft palate so he is on a feeding tube (g0-tube) , intelectual disabilities (Evan has autism and heart defects ( Evan had an enlarged heart which is now healed since his diagnosis with Carnatine deficiency ( an inborn error in metabolism) a Trisomy is a duplicate chromosome (much like with down syndrom has a extra 21st chromosome,  No 2 people have the same genetic code unless they are identical twins, so this condition will likely never have a name.  Without a name it will likely never have a treatment, thier are even more than the average financial burdens associated.. 'whereas it is typical for rare disease patients to feel alone, since they don't know anyone with thier condition normally.  This is even more likely in people with conditions like  Evan's.  

30 Million people have a rare condition in the US alone 400 million worldwide,  1 in 200,000 is considered rare, where as 1 in 50,000 is considered ultra rare. Rare realy is not rare.  The mascot for rare conditions is a zebra because no to zebras have the same pattern. A common condition is known as a horse.  Thier is a saying i  the medical field "if you hear hoof beats think horses, not zebras."  Combined rare conditions are more common than strokes and cancer combined.  Only 5% of rare conditions have an FDA approved treatment.  I do this podcast primarily to educate on rare diseases.  Doctors need more thana paragraph in a textbook.  People living with rare diseases are not likely to be taken seriously either.  A lot of rare disease patients are told it is all in your head.  Doctors don't have the time to learn about every rare condition nobody does their are to many of them.  With over 10,000 rare condions it would take a lifetime to cover them all.   Check out Melissa's book Who Cares? Available on Amazon and Barnes and Nobel.  Please Subscribe to my YouTube channel Rare Chef and My podcast Rare Connection.  Please also leave a comment I would love to know your thought of these episodes.  

#chromosomaldefect #rarediseases #4qdeletionsyndrome #ehelersdanlossyndrome #autism #storkbites #piererobin'ssyndrome
#eggallergy #feedingtube #carnatinedeficiency #teenpregnancy #disability

Chapter Markers

00:00 Intro
02:10 Genetic testing reveals Chromosome 4 deletion and Trisomy 6
03:20 Not compatibke with life
04:12 Melissa's son lived to be 12 years old and doing well
04:54 cleft Palate 
05:18 Teen mom advocate demands full exam
07:10 Why Melissa wrote Her book Who Cares?
07:42 Home Care
10:29 Emergenct care
11:50 advocacy
12:28

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Guest: Khartik Uppalapati, Co-founder of RareGen Youth Network

Episode Description:

In this episode of Rare Connection, host Joanna welcomes Khartik Uppalapati, a remarkable young leader at the intersection of biomedical research and rare disease advocacy. Khartik shares his personal journey with rare conditions, which ignited his passion for scientific innovation and healthcare policy reform.

We delve into Khartik's groundbreaking research in organoid intelligence, biological computing, and AI-driven diagnostics. He discusses his work at MIT's Lincoln Labs and Cincinnati Children's Hospital, as well as his contributions to antimicrobial research and machine learning-based antibiotic discovery.

Khartik also sheds light on the impactful work of RareGen Youth Network, an organization he co-founded to address systemic barriers faced by individuals with rare diseases. We explore RareGen's advocacy efforts, including their engagement with hundreds of families, policy reports, and initiatives to ensure equitable healthcare access and digital health protections.

Join us as we uncover Khartik's vision for a future where science, policy, and youth-led activism converge to create real, lasting change for the rare disease community.

Key Talking Points:

• Khartik's personal experience with arteriovenous malformation and a rare lymphatic disorder.
• The mission and impact of RareGen Youth Network.
• Groundbreaking research in organoid intelligence and biological computing.
• AI and machine learning applications in rare disease diagnostics and treatments.
• Advocacy for equitable healthcare access and digital health protections.
• The importance of youth-led activism in the rare disease community.
• The work done with antimicrobial ligands, and machine learning based antibiotic discovery.
• The work done with CBCT imaging and AI to determine skeletal age.

Resources:

• RareGen Youth Network: (If they have a website, include it)
• Khartik Uppalapati's arXiv paper: arxiv.org/abs/2411.06009
• 988 Suicide & Crisis Lifeline: Dial or text 988
• Crisis Text Line: Text HOME to 741741

Connect with Rare Connection:

• YouTube: Rare Chef (Your YouTube Channel)
• Podcast: Rare Connection (Where to find your podcast)
• Facebook: (Your Facebook Page)
• X (Twitter): (Your X/Twitter Handle)
• LinkedIn: (Your LinkedIn Page)

Call to Action:

• Subscribe to Rare Chef on YouTube.
• Subscribe to Rare Connection wherever you get your podcasts.
• Share this episode with someone who would benefit from hearing it.
• If you or someone you know is struggling with mental health, please reach out to the 988 Suicide & Crisis Lifeline, or the Crisis Text line.

Chapter Markers

00:00 Intro
0310 Why Khartok became a reseaercher
05:05 Genesis of Rare Gen Youth Network
08:14 organoid Intelligence
10:07 How AI and Machine learning is revaloutionizing treatment
12:18 Antimicrobial Ligens & High performance computing
13:56 Potential implicationsNext steps for research
15:37 Next steps for Machine learning
17:09 Hurdles of conducting research on rare diseases
18:16 Common challenges faced by Youth and how they are overcome
20:06 Key takeaways concdrning rare disease patients
21:21 digital protections
23:00 Global collaboration
24:39 Equitable accessfor disabled youth & solutions
25:44 success in influencing policy
27:16 What policy makers should know'
28:31 Long term goals & breakthroughs
29:21 Advice for other researchers & advocates
30:26 Measuring success &goals for the future of Rare Gen
31:20 Misconceptions about rare diseases
32:12 call to action
34:00 conclusion

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Guest(s): Allison & Elizabeth

Episode Summary

In this episode of Rare Connection, I’m joined by twin sisters Allison and Elizabeth, who both have familial Cerebral Cavernous Malformation (CCM)—a rare genetic condition that causes clusters of abnormal blood vessels in the brain and spinal cord. They share their personal diagnosis journeys, how CCM has impacted their lives, and the ways they manage symptoms and advocate for awareness.

Topics Covered:

✅ How Allison & Elizabeth were diagnosed with CCM
 ✅ Symptoms, treatments, and lifestyle adjustments
 ✅ The genetic and family impact of CCM
 ✅ Nutrition and diet considerations for managing symptoms
 ✅ Advocacy, research, and the future of CCM treatment

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📞 Call or text 988 for the Suicide & Crisis Lifeline (U.S.)
🌎 If outside the U.S., please reach out to local crisis resources—you are not alone.

Chapter Markers

0:00:00 Intro
0:01:41 Alison's Diagnosis story
0:03:55 Allison is misdiagnosed with Thoracic Outlet Syndrome
0:05:01 Elizabeth's diagnosis story
0:09:27 Fanily genetics and CCM
0:13:44 CCM effect on daily Life (Allison)
0:17:15 CCM effects on Daily Life (Elizabeth)
0:20:27 Allison's similar symptoms to Elizabeth
0:22:36 Elizabeth takes vitamin K
0:24:45 Allison's surgery for a hemorrhage right vefore taking the bar exam
0:30:15 Thickened diet during surgery to prevent aspiration
0:34:42 Alliance To Cure Cavernous Malformation
0:35:37 standard of Care for CCM
0:36:02 Centers of Excellence for CCM
0:36:55 Clinical trial Recosian Pharmeceuticals
0:39:47 CCM variants
0:46:17 Elizabeth's Care Plan
0:51:42 Alison doesn't hace a care plan
0:53:59 Allison on future generations
0:56:06 Elizabeth' on future generations
0:57:32 Allison on diet &CCM
1:03:09 Elizabeth on diet & CCM
1:12:35 Allison on challenges in proper treatment for CCM
1:21:21 Ekizabeth on challlenges in prioer trearmebt fir CCM
1:26:37 missconceptions about CCM
1:32:57 How you can support the CCM community Allison
1:38:54 How you can help Elizabeth
1:43:03 tips for overheating
1:46:44 How being a twin has influenced the journey with CCM Allison
1:49:37 Elizabeth how being a twin influenced the journey with CCM
1:51:48 Advice to others on coping with a rare disease Allison
1:55:57 Advice to others on coping with a rare disease Elizabeth
1:59:39 Hopes for CCM research & treatment Allison
2:04:32 Hopes for the future Elizabeth'
2:06:40 Ways to get drugs to be affordable
2:09:13 conclusion

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Rare disease patients often face long diagnostic delays, limited access to clinical trials, and challenges in finding treatments. Traditional medical records don’t always capture the full picture, making it harder to identify and support these patients. But what if advanced data and AI could change that?

In this episode of Rare Connection, I’m joined by Jeff McDonald, CEO of Kythera Labs, to discuss how AI and data analytics are revolutionizing rare disease care. We explore how these technologies are helping to:
✅ Identify rare disease patients faster
✅ Improve clinical trial matching and recruitment
✅ Speed up drug discovery and access to treatments
✅ Empower patient advocacy with real-world data

If you or a loved one has struggled to navigate the rare disease space, this conversation is packed with insights that could make a difference.

Connect with Rare Connection:
🎙 Subscribe to the Podcast: [Insert podcast link]
📺 Subscribe on YouTube: [YouTube channel link]
📱 Send Me a Text: [Link in show notes]
💙 Follow Rare Connection: [Facebook] | [X] | [LinkedIn]
☕ Support the Show: [Support link]

🔔 Don’t forget to subscribe and share this episode to help spread awareness!

0:00:00 Intro
0:02:38 Why it is so hard to identify rare disease patuents in traditional healthcare systems
0:06:17 How gaps in medical records & diagnosis codes Impact access to treatment
0:11:15 barriers patients face when enrolling in clinical trials
0:14:46 gaps in medical Records
0:18:17 How AI & advanced data Analytics are revolutionizing healthcare
0:23:02 How Kythera labs is helping rare disease patients
0:26:24 Examples of how AI has sped uo access to treatment
0:29:21 How Kythera's platform improves the efficuency of clinical trials
0:32:59 How AI can help pharmeceutical companies develop treatments faster
0:34:30 Promising trends & breakthroughs in how AI is shaping drug discovery
0:41:07 How real wirld data is expanding treatment options for rare disease patients
0:45:45 How real World data can benefit patient advocacy groups benefit from data driven insites
0:49:23 Jeff's Prediction for how AI will shape the future over the next 5 to 10 years
0:50:53 balancing patient data with concerns about privacy consent
0:53:51 safe guards to ensure ethical use of data in rare disease research
0:55:31 advice to rare disease patients
0:58:36 How you can get involved with Kythera Labs
1:00:38 How you can stay up ti date on Kythera's work
1:02:16 conclusion

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In this episode of Rare Connection, Mimi shares her 20-year battle for a Sjögren’s syndrome diagnosis—a disease often misunderstood as just a "dry eye disorder" but one that led to respiratory failure and lung scarring in her case. She opens up about her journey with pulmonary fibrosis, nightly oxygen therapy, and the challenges of being taken seriously by medical professionals.

Beyond her health struggles, Mimi is an author and advocate with 33 years of sobriety. She discusses how trauma and resilience shape both her medical experiences and her work, including her books The Anatomy of an Alien and Raised by Wolves: Trapped by Demons.

Join us as we explore the intersection of rare disease, trauma, and advocacy—and what needs to change in how patients are heard and treated.

Topics We Cover:
✔️ Why Sjögren’s syndrome is more than just dry eyes
✔️ The 20-year struggle for a diagnosis and medical validation
✔️ How Sjögren’s led to pulmonary fibrosis and oxygen therapy
✔️ Medical gaslighting and the importance of self-advocacy
✔️ The link between rare disease, trauma, and resilience
✔️ Mimi’s books and her mission to empower others

🔹 Follow Rare Connection on Facebook, X, and LinkedIn to keep the conversation going!

⚠️ If you or someone you know is struggling, help is available. Call or text 988 for support—you are not alone.

Chapter Markers

0:00:00 Intro
0:02:22 Btain fog
0:04:22 Fibromyalgia
0:05:58 Car Accident
0:07:34 Alcohol induced black outs
0:08:16 rehab
0:10:17 lao band surgery
0:17:14 Sense of tarste changed
0:18:18 contacr lenses
0:20:18 Dry Eyes and Throat
0:21:05 Mimi finds Sjogren's Syndrome on her own 
0:22:30 breathing issues
0:23.:14 Concierge doctor
0:25:09 respiratory failure
0:26:34 speech Therapy
0:28:50 Blood Marker for Sjogren;s Syndrome found in salivary gland
0:29:13 Breast Cancer
0:31:09 Implants
0:31:36 Red Breast Syndrome
0:33:53 Polyps
0:36:21 Osteoporpsos
0:39:10 Debtal problems
0:40:24 Mimi is a caregiver for her husband who has Parkinson's 
0:41:06 Therapy
0:42:06 Mimi's furst book Raised By Wolves Trapped by Demons
0:42:57 Small Nerve Fiber Neuropathy
0:45:54 Spigilean Hernias
0:48:11 2nd Book The Anatomy of an Allien
0:50:15   What doctors should know
0:52:05 How respiratory issues unfolded
0:54:15 Daily Life
0:57:09 oxygen machine
0:58:39 Past Trauma
1:01:24 suicide
1:02:20 Medical gas lighting
1:07:31 inspiration for books
1:09:42 Advice for other patients struggling to be heard
1:12:00 Dietary changes anf Sjogren's Syndrome
1:14:19 Conclusion





































;18:18

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In this episode of Rare Connection, I sit down with Chris, aka Mr. Ohh, who shares his journey of living with AATD, undergoing weekly infusions, and facing the challenges of this condition—all while using humor as his greatest weapon. We dive into what it’s like to navigate daily life with AATD, the lung-liver connection, and how laughter helps him push through even the toughest days.

📢 Don’t forget to SUBSCRIBE!
🔴 Watch more episodes & rare disease stories on Rare Chef: [Insert Channel Link]
🎙 Listen to the Rare Connection Podcast: [Insert Podcast Link]

💬 Let’s Connect!
📲 Send me a text message through the audio link in the YouTube show notes or, if you're listening on the audio side, use the "Send Me a Text" link in the show notes—I’d love to hear your thoughts!

💙 Support the Show
If you’d like to help keep this conversation going, you can donate through the “Support the Show” link in the show notes. Please note that contributions are not tax-deductible as I’m still working toward 501(c)(3) status. Your support means the world!

⚠️ Mental Health Resources
If you or someone you know is struggling, please know that help is available. You are not alone.
📞 Call or text 988 for the Suicide & Crisis Lifeline (U.S.)

#RareDisease #Alpha1AntitrypsinDeficiency #AATD #RareConnection #RareChef #ChronicIllness #LungHealth #LiverHealth #Emphysema #Podcast

Chapter Markers
00:00 Intro
03:54 diagnosis story
07:50 why it takes so long to diagnose
08:51 Alpha 1 explained
12:31 How a bad lund day affect Mr. Ohh's daily life
13:36 Mr. Ohh Sideways View
14:19 Weekly Infusions
20:37 Things Mr. Ohh used to take for granted that he is extra caregul about now
21:45 Misconceptions about Alpha 1
24:39 Why humor is so important
26:10 a time when laughter helped Mr. Ohh through a tough time
28:06 How Mr.Ohh handles it when people don't understand his humor
29:44 MR.ohh's diet
31:38 cooking hobby
32:55 Guidelines for managing lung inflamation
33:39 Lifestyle changes besides diet
35:36 A Typical day of eating
38:05 chsnging diet because of medication side effects
39:49 hydration
41:18 What medical professionals should know
43:09 What you should know
45:10 How you can supprt the Alpja 1 community
47:46 conclusion

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Hereditary Hemochromatosis (HHC) is a genetic condition that causes the body to absorb too much iron, leading to serious health complications if left untreated. Many people go undiagnosed for years, mistaking symptoms for other conditions.

In this episode of Rare Chef, I sit down with Michael J. Tallon, an author, traveler, and rare disease advocate, to discuss his personal journey with hemochromatosis. Michael’s battle with iron overload nearly cost him everything, but it also gave him a powerful story to tell. His memoir, Incompatible with Life, explores his experiences with the disease and his incredible life adventures—from teaching in Brooklyn to bartending in Guatemala.

🔗 Read the introduction to Michael’s unpublished book here:
👉 https://www.michaeljtallon.com/book

📢 Subscribe for More Rare Disease Advocacy & Awareness!
If you found this episode valuable, don’t forget to like, comment, and subscribe to Rare Chef for more conversations about rare diseases, patient advocacy, and health education.

📞 Need Help? You Are Not Alone.
If you or someone you know is struggling, please reach out for support. Call or text 988 for the Suicide & Crisis Lifeline—help is available 24/7.

#Hemochromatosis #RareDisease #RareChef #MichaelJTallon #IncompatibleWithLife #IronOverload #HealthAdvocacy

Hereditary Hemochromatosis (HH) is a genetic condition that causes the body to absorb to much iron leading to serious health complications if left untreated.  Many people go undiagnosed for years mistaking other conditions for other conditions.  

In this episode of Rare Connection, I sit down with Michael J. Talon an author, traveler and rare disease advocateto discuss his personal journey with Hemochromatosis.  Michael's battle with Iron Overload nearly cost him everything, bit it also gave him a powerful story to tell.  His memoir, "Incompatible with Life:" explains his experiences wtth the disease and his incredible life adventures from teaching in Brooklyn to bartending in Guatemala.  
Read the introduction of Michael's unpublished book here:  michaeljtalon.com/book
If you found this episode insightful please subscribe to my YouTube channel Rare chef, and my podcast Rare Connection wherever you are listing or watching.  Please also like and comment below.  I would love to hear your thoughts.


Check out Mike's website:  https://www.michaeljtallon.com/

Chapter Markers

0:000:00 Intro
0:02:00 Hereditary Hemochromotosis can be picked up with a family histiry screening
0:03::29 early signs
0:06:22 Misdiagnosis with diabetes
0:07:39 Doctor suspects cirrhosis
0:10:11 New Radiologist finds cirhosis
0:11:34 Mike goes home to New York
0:12:33 Mike's father buys him health insurance
0:13:09 Fibroscan
0:15:08 Liver Transplant recommended
0:15:21 Mike is ordered to stop drinking
0:16:21 Portal Vein Hypertension
0:17:05 Mike is put on beta blockers
0:17:40 Heart failure
0:18:22 Mike passes out
0:20:16 step down unit
0:21:14 High Ferritin level
0:23:23 Mike is transfered to the cardiac ward
0:24:08 Mike is diagnosed with Hereditary Hemochromotosis at 48
0:24:36 Hereditary Hemochromotosis is commonly diagnosed at autopsy
0:28:49 Hereditary Hemochromotosis is most common in a Keltic population
0:30:20 Challenges and misconceptions
0:32:28 What symptoms should you look for
0:34:38 How HH changed Mike's daily life
0:37:24 suicide attempt
0:38:29 turning point
0:40:04 Long Term changes
0:40:56 Treatment For HH
0:44:36 History of HH
0:45:49 Balancing of Humors
0:53:15 Kelation Therapy
0:55:57 How HH affected Mike's aventurous life
1:00:46 Ventricular assist device
1:06:25 Something about libing with HH that

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Join me as I talk with Risa about her diagnosis with Acromegaly (A rare benign cancer).  Learn about Risa's Symptoms and how she deals with her condition on a day to day basis.  Risa decided shortly after having surgery to go on a 1845 mile bike ride from Colorado to Mexico despite her doctors advising against it.  You can read more about her story in her book The Road Unpaved: Border to Border with a Brain Tumor and a Bike available on Amazon.  Her book is being turned into a movie.  Use the link below to order your copy.  Please consider subscribing to both this podcast and my YouTube channel Rare Chef.  Follow us on Facebook and X (Formerly Twitter) and join our Facebook Group.  

Chapter Markers
0:00:00 Intro
0:04:10 Diagnosis story
0:09:23 MRI Image Pituitary Gland
0:11:54 Acromegaly explained
0:14:31 Missed Signs
0:18:45 How the Acromegaly diagnosis changed Risa's outlook on life
0:20:51 treatments and navigating the healthcare system
0:23:53 How the brain tumor affected Risa's daily life Physically and emotionally
:25:42 Why Risa thinks Acromegaly might be more comon than we think
0:28:26 What more doctors should know about diagnosing and treating Acromegaly
0:30:36 Average life expectancy
0:31:26 Advice to undiagnosed
0:33:14  Risa;s biggest challenges in advocating for herself
0:36:31 How Risa's diagnosis changed her approach to life
0:39:58 Favorite travel spot
0:40:59 Misconceptions
0:46:47 balancing act
0:49:07 inspiration for Risa's book The Road Unpaved: 
0:52:14 Whar Risa hope's people take away from her story
0:54:21 What's Next
0:56:40 Advice for other facing life altering diagnoses
1:00:23 Risa's advice to herself
1:011;44 conclusion

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In this episode I talk with Danielle, a parent of a daughter Elsa with PKU and children's book author.  Her book Rosey Racoon Has PKU is available on Amazon,  See link below.  In this episode I talk with Danielle about Her daughter's diagnosis with PKU, and the fears and challenges she went through as a parent, her daughter's symptoms when her levels are high VS when they are normal, The PKU diet, Advice to new parents, her book and much more.     

Be sure to check out Rosey Racoon Has PKU,  

https://www.amazon.com/Rosey-Raccoon-Has-Danielle-Freeman/dp/B0DP7V3WJ7/ref=sr_1_1?crid=JWP20L48CIPZ&dib=eyJ2IjoiMSJ9.2cLjc2XCV1FFqrwpK-Aicf_pKS6CDtvw6d_v6Udn5HI14e5r_aWcuRcvQ3g4nNE7GnJTsBVr2mDQMdr8Ip5CiVy0crKMCufcYKlnm-6qs7Yvjckvh5EGCGOnKNkOBkkh-h2cd6DMumtCVjY2GjiZ9g.wAbWMtFkDAIDP0T880pdYysz9iMl4mx6lvpsujCEapE&dib_tag=se&keywords=danielle+freeman+book&qid=1737785660&sprefix=Danielle+Free%2Caps%2C166&sr=8-1

Chapter Markers
00:00 Intro
02:16 diagnisis story
04:45 Most challenging moments early on
06:15 How a high blood level affects Danielle's daughter
07:13 How low blood levels affect Danielle's daughter
07:50 Perfect Level
08:26 Protein tolerance
09:21 PKU Explained
10:27 Improvements Danielle Would Like ti see in the newborn screening
12:33 Tips for managing the low protein diet
15:12 Medical food coverage
16:48 products and resources that are helpful
19:31 Projects & initiatives
20:37 Inspiration for Rosie The Racoon Has PKU
21:49 Main Message & take away
22:47 Process of writting and challenges
24:15 Book intentions & reader responses
29:00 Book statistics
29:31 How the book contributes to PKU Awareness
31:26 future books
32:10 How parenting a child with PKU has changed Danielle's prespective
33:15 Advice for other parents
35:19 Hopes for PKU advancement & treatment
37:41 Danielle's future as both an advocate & an Author
38:26 conclusion

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In this episode of Rare Connection, Joanna sits down with Rori, Vice President of the Superficial Siderosis Research Alliance (SSRA), to explore the complexities of Superficial Siderosis (SS), a rare and progressive neurodegenerative condition. Together, they discuss:

• The causes, symptoms, and diagnostic challenges of SS.
• Current treatments like chelation therapy and the role of dietary considerations.
• The vital work of the SSRA in advancing research and supporting patients.
• The ongoing challenges of funding rare disease advocacy and research.

Whether you're living with SS, supporting a loved one, or simply curious about rare conditions, this episode shines a light on the importance of awareness, advocacy, and community.

👥 Guest Information:

• Rori: Vice President of the Superficial Siderosis Research Alliance
• Learn more about SSRA: SSRA.livingwithSS.org

🌟 Key Takeaways:

• Understanding Superficial Siderosis: SS is caused by chronic bleeding into the brain or spinal cord, leading to iron buildup and damage to the nervous system.
• Symptoms and Diagnosis: SS can present as hearing loss, ataxia, or cognitive changes, and is often misdiagnosed due to its rarity.
• Treatment Options: Chelation therapy can help remove iron buildup, but early diagnosis is critical for managing symptoms.
• The Role of Advocacy: SSRA connects patients, raises awareness, and drives research forward, highlighting the importance of collective effort in rare disease spaces.

📝 Episode Links & Resources:

• Donate to the SSRA: SSRA.livingwithSS.org
• Connect with Rare Connection:
  • Website: rareconnection.org 
  •  I am currently trying to turn Rare Connection into a Nonprofit and I need governing board members.  Time commitment approximately 20 Hours a week.  This is a volunteer job, so you won't be paid,  I am looking for a secretary to take meeting minutes, lead the outreach committee as we grow, help with organization and newsletters, and the email list.   I also need a treasurer, who is responsible for the financial end of things, budgeting, and leading the fundraising committee as we grow.  Meeting time included in estimate.  1 to 2 hours a month  committee time estimated  between 2 and 4 hours, but it will take time to get that started.  if interested email me at [email protected]
• I am looking to collaborate with medical professionals to offer CE Credits, if you are interested in showing my podcast in your classroom and offering CE credits for it please let me know.  All guests are encouraged to bring visuals on to the visual part of this podcast.  

Lastly, I am looking for sponsors if you are interested in sponsoring the show please reach out to me at [email protected]  anything you can give will help.  Click the link below to help:

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

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• Twitter: https://x.com/Rare_Connection

🔔 Subscribe & Support:
If you enjoyed this episode, please subscribe to Rare Connection and leave a review! Your support helps us continue raising awareness for rare diseases and sharing the voices of incredible advocates like Rori.

Chapter Markers

0:00:00 Intro
0:01:28 Superficial Siderosis explained
0:04:56 How Superficial Siderosis differs from MS
0:07:28 How Rori Communicates with Gary
0:07:55 diagnosis
0:12:41 Chelation Therapy (off label Treatment for Superficial Siderosis)
0:16:37 How Superficial Siderosis is aquired
0:18:49 3 Variants of SS
0:22:46 MIND diet
0:26:24 How much iron is recommended
0:27:50 G

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