Rare Connection

Send us Fan Mail 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 Unpave...

Send us Fan Mail 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 whe...

Send us Fan Mail 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...

Send us Fan Mail 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 leav...

Send us Fan Mail 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 liv...

Send us Fan Mail 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 fami...

Send us Fan Mail 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 st...

Send us Fan Mail 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 o...

Send us Fan Mail 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 Chromosom...

Send us Fan Mail 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 rais...

Send us Fan Mail 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 Wor...

Send us Fan Mail 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 allo...

Send us Fan Mail 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...

Send us Fan Mail 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...

Send us Fan Mail 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 Pur...

Send us Fan Mail 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 alon...

Send us Fan Mail 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 th...

Send us Fan Mail 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 s...

Send us Fan Mail 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 t...

Send us Fan Mail 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 Sy...

Send us Fan Mail 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 Mas...

Send us Fan Mail 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...

Send us Fan Mail 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 dia...

Send us Fan Mail In this episode I talk with Nico who has Congenital Central Hypoventilation Syndrome (CCHS).  Nico worked for CCHS Network inc.  which his mother started.  He revamped the website and planned a global conference for CCHS patients.   After losing friends to CCHS he decided to branch out and work with people with disabilities at large.  He became a guest on podcasts, and started his...

Send us Fan Mail In this episode I talk with Layna (parent and advocate with Hope for PDCD https://www.hopeforpdcd.org/) .  PDCD is a inherited metabolic condition that has to do with Carbohydrate metabolism.  They follow the Keto diet.  Layna is responsible for fundraising, education, social media, education, and advocacy.  She has a youtube channel of her own https://www.youtube.com/@laynaoconno...