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PATIENT WORTHY SERIES

Study of the Week: A New Treatment Option for Lupus?

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we

systemic mastocytosis

Rare Classroom: Alternating Hemiplegia of Childhood

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on

GACI

GACI/ARHR2 Awareness Day is February 1st: Spreading rare Disease Awareness

Generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemia rickets type 2 (ARHR2) Awareness Day is recognized each year on Feb 1. This is

Study of the Week: A new Approach to Treat Mitochondrial Disease

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we

THE LATEST FROM PATIENT WORTHY

Narcolepsy

A Mental Health Counselor Discusses His Life with Narcolepsy

Chris was tired. Not just tired, actually, but fatigued. Normally, he loved working with his clients as a mental health counselor—and in his spare time,

Misophonia

Misophonia Lawsuit May Proceed, Court Rules

Have you ever heard of misophonia? This rare disorder, which literally translates to “hatred of sound,” occurs when certain sounds trigger intense and involuntary emotional

Stiff Person Syndrome

Singer Celine Dion and British man Ian Rawlins both live with Stiff Person Syndrome

Singer Celine Dion recently acknowledged that she has an extremely rare neurological disorder called stiff person syndrome (SPS). According to a recent article in

chronic granulomatous disease

Chronic Granulmatous Disease

Family Finds Treatment for Chronic Granulomatous Disease

According to a story from The Post and Courier, Chantel Bass and her family have been living in the shadow of a rare immune illness

Fabry Disease

After 10 Children with Rare Diseases died, Indian MP Varnum Gandhi Warns that more Children are in Danger

New Delhi: Recent headlines in the Hindustan Times highlighted a letter written by the leader of the Bharatiya Janata Party, Varnum Gandhi, to Health

von Hippel-Lindau Syndrome

VHL Patient Ashley Benefits from Treatment with Belzutifan

Ashley Colburn began losing her vision in childhood and became completely blind at fourteen years old. You see, Ashley has a rare inherited disorder

Congenital central hypoventilation syndrome

Girl with CCHS Celebrates Fifth Birthday

Sabiha Aoudia and Atmane Abbas were visiting the United States from Algeria when, suddenly, Aoudia began experiencing some pregnancy complications. She underwent an emergency

Dr. Rajeev Raghavan is a doctor who works with patients with lupus. He stands in a white lab coat with a light blue shirt.

COVID-19

Dr. Rajeev Raghavan Discusses Data on Lupus and COVID-19 (Pt. 2)

Before you read on, don’t forget to check out Part 1 of our interview. In Part 1, Dr. Raghavan discussed his background, explained what lupus is, and

Spinal Muscular Atrophy

Family Shares Daughter’s Journey with SMA

After Tabitha Wright heard the news from the doctor, her heart dropped. Her daughter Aspen had just been diagnosed with spinal muscular atrophy (SMA)

Rare Disease

Lecanemab, a Newly Approved Alzheimer’s drug…will it Succeed?

On January 6, 2023, the FDA granted conditional approval to a new Alzheimer’s drug, lecanemab, that will be sold as Leqembi. Vox carried the

OF INTEREST

Catalyst’s LEMS Aware Podcast Helps Connect Patients

Rare Disease Clinical Trials Are Essential to Help Uncover Potential Patient Solutions: Spotlight on Classic Congenital Adrenal Hyperplasia (CAH)

PATIENT STORIES

Family Shares Daughter’s LCH Experience

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UPCOMING EVENTS

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The Global Innovation in Patient Advocacy conferen

The Global Innovation in Patient Advocacy conference showcases best practices in patient advocacy initiatives across the globe. Challenges in global advocacy may vary depending on country specific healthcare ecosystems and this is an excellent opportunity to discuss those challenges and ideas for problem solving.

The agenda is dedicated to examples and innovative ideas for building relationships with patients, caregivers and patient communities.

Register today at: https://dgevents.com/event/global-innovation-patient-advocacy/

Even better, you can use code PATIENTWORTHY to save 15% off your registration!
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#PatientWorthy #PatientAdvocacy #DGEvents #DGE #PatientCare #GlobalInnovationInPatientAdvocacy #patientcenteredcare #medicalknowledge #pharma #RareDisease #ClinicalOperations #medicalaffairs

Today, January 24, marks International Alagille Sy

Today, January 24, marks International Alagille Syndrome Awareness Day.

This day is dedicated to increasing worldwide knowedge and awareness around #AlagilleSyndrome.

Alagille Syndrome is a rare genetic disorder that affects multiple organ systems, such as the liver, skeleton, kidneys, and heart. #LiverDisease is a major feature of Alagille syndrome, as well as heart abnormalities and a reduced number of bile ducts. This condition results from JAG1 or NOTCH2 gene mutations.

Today, we honor all of the people and families around the world who have shown strength, advocated for awareness, spurred research, and inspired hope.

Together we can use our voices to help everyone become #ALGSAware. Please share your story below. You should also follow @ALGSAlliance to learn more about Alagille syndrome, science and research, and how to stay strong and press on together.
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#PatientWorthy #InternationalAlagilleSyndromeAwarenessDay #AlagilleSyndromeAwareness #RareDisease #ALGS #AlagilleWarrior #RareDiseaseAwareness #RareDiseaseDay #Genetics #GeneticDisorder #LiverDiseaseAwareness #ALGSAlliance

Whitney Mitchell’s daughter Havilah began having

Whitney Mitchell’s daughter Havilah began having tonic clonic seizures when she was just a few months old, sparking the start of a diagnostic journey. At one point, Havilah was experiencing hundreds of seizures each day.

With her family acting as fierce advocates, Havilah was eventually diagnosed with a rare developmental epileptic encephalopathy called #CDKL5 Deficiency Disorder, commonly referred to as CDKL5 or CDD.

In her interview with Patient Worthy, Whitney shared the diagnostic journey, what CDD is, advice for families on their own journeys, and how the Mitchell family has found balance, sharing:

“We will keep fighting and pushing, but not at the detriment of losing sight of what’s truly important, and that’s Havilah…In the beginning, the struggle for me was realizing that Havilah was not going to be ‘normal’ and wouldn’t be able to do all the things she’s expected to do. I grieved that, but then I had to realize Havilah is normal. Havilah is doing everything she’s supposed to do. And that doesn’t mean I don’t want to give her every opportunity for her future, it just means I love her exactly for who she is. Havilah is still with us. Havilah is happy. Havilah is who she was made to be.”

Read Whitney and Havilah’s story on Patient Worthy: https://patientworthy.com/2023/01/03/finding-balance-cdkl5-deficiency-disorder-interview-pt1/
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#PatientWorthy #Interview #RareMom #CDKL5Awareness #CDKL5DeficiencyDisorder #CDD #ParentingRare #RareDisease #RareDiseaseDay #RareDiseaseAwareness #EpilepticEncephalopathy #Epilepsy #EpilepsyAwareness

To @tj_bchillen and his wife @drjadasmart, raising

To @tj_bchillen and his wife @drjadasmart, raising #DownSyndrome awareness is a way to honor Jada’s relationship with her Aunt DC. Unfortunately, though DC passed away in 2015, participating in #MyCauseMyCleats — and finding other ways to raise awareness on a national level — helps to keep her memory alive.

In a recent interview with Patient Worthy, Tanzel and Jada explain why it is important to combat myths and misinformation, share how they participate in advocacy in New Orleans, and discuss what they hope people know about Down Syndrome.

Jada says:

“People with Down syndrome just have an extra chromosome. They’re still smart, regular, fully functioning humans, and a light should be shone bright on that. Just because someone has Down syndrome doesn’t mean they can’t do the things we can do.”

Thank you Tanzel and Jada for your support and commitment to raising awareness! 💚💛💙

Check out more of Tanzel and Jada’s interview here: https://patientworthy.com/2023/01/10/nfl-players-discuss-rare-chronic-underserved-causes-pt2/
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#PatientWorthy #DownSyndromeAwareness #Interview #Jets #nyjets #trisomy21 #DownSyndromeLove #homiewithanextrachromie #morealikethandifferent #NFL #jetsnation #footballnews #chromosomes

From our friends at @bareinc_org: 💥Calling al

From our friends at @bareinc_org:

💥Calling all BA families! @bareinc_org invites you to be their VIPs!

Join BARE as they host their first Biliary Atresia symposium in May! Space for the Patient & Family Day on May 6th is limited to 150 people and we do not want YOU to miss it! To ensure every BA individual gets a chance to attend, BARE has decided to open a pre-registration event for you all — the VIPs!

How to pre-register:

1️⃣ Go to the link at www.bareinc.org/conferences (or go click the link in their bio).

2️⃣ Complete the form and submit.

3️⃣ Save the confirmation email sent to you once submitted!

Next Steps:
When the official registration is open (this will be closer to the event) your spot is already saved and you will be added to the roster!

The symposium is FREE to all patients & families 💚

Any questions please do not hesitate to reach out at contactus@bareinc.org

BARE looks forward to you joining them for this groundbreaking event!
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#patientworthy #BAREinc #BiliaryAtresia #BiliaryAtresiaAwareness #RareDisease #RareDiseaseAwareness #BiliaryAtresiaWarrior #LiverDisease #symposium

Following My Cause My Cleats in November, Patient

Following My Cause My Cleats in November, Patient Worthy wanted to speak with #NFL players about the rare, chronic, and underserved causes that mean the most to them. This FOUR PART series gives amazing insight into what drives these players and how they feel they best support their communities.

In Part 1, cornerback Shemar Jean-Charles of the @packers discusses his support for the @alzassociation and how he has personally worked to make a difference.

He shares:

“I had never been in a senior care center before, but I’ve been to multiple since working with the Alzheimer’s Association. It has been a great and eye-opening experience to see what these people are going through because so many people don’t understand. The majority of people I’ve come across are the best people in the world: positive attitudes, big smiles, just a mutual love and desire and ability to build community. It has been so fun to put a smile on these seniors’ faces and so motivating to continue doing this work.”

Read Part 1 here: https://patientworthy.com/2023/01/09/nfl-players-discuss-rare-chronic-underserved-causes-pt1/
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#patientworthy #alzheimers #alzheimersawareness #alzheimersassociation #mycausemycleats #alzheimersdisease #dementia #dementiaawareness #greenbaypackers #packers #packersnation #footballnews #alzheimerscare

Have you ever heard of food protein-induced entero

Have you ever heard of food protein-induced enterocolitis syndrome (#FPIES)? This rare non-IgE mediated food allergy impacts the gastrointestinal tract; the most common triggers are milk, soy, rice, oat, and egg.

In 2021, @shelbyharris96 and his family learned about FPIES. After trying to switch his son Shelby Jr. to a breastmilk and formula diet, Shelby Jr. began vomiting profusely and went into shock. He was rushed to the hospital but eventually, with some IV fluid and monitoring, went home.

The next time they tried to give him formula again, Shelby Jr. had another reaction. Their pediatrician told them to explore FPIES as an option, though doctors seemed reluctant. However, the family eventually got the FPIES diagnosis.

In his interview with Patient Worthy, Shelby shares:

“Trust your instinct and don’t be afraid to ask questions. Who cares if the doctors get annoyed with you about it? You aren’t there to make them comfortable. You’re there to make sure that your child is taken care of. That is the only thing that matters: that your child is taken care of the right way. So don’t ever be afraid to advocate for them. I can only imagine what would’ve happened that first time if my wife wasn’t such a great advocate.”

You can read Shelby’s interview about FPIES, advocacy, and how his son is doing today live on Patient Worthy now: https://patientworthy.com/2023/01/06/seahawks-shelby-harris-sons-fpies-experience-interview/

Thank you Shelby and @athleterelations for taking the time to chat and raise awareness!
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#PatientWorthy #SeattleSeahawks #AthleteRelations #FPIESAwareness #RareDisease #FoodAllergy #FoodAllergyAwareness #FoodProteinInducedEnterocolitisSyndrome #MyCauseMyCleats #Seahawks #SeahawksNation #FoodAllergyLife #FoodAllergyFamily #FPIESFamily

From the time her son Raymond was born, Alex Gaudl

From the time her son Raymond was born, Alex Gaudlap’s motherly instincts told her that something was going on. From his birth in 2016 to his eventual diagnosis in 2020, Alex fought tirelessly to ensure that her son had the best life and the best care that he could.

In 2020, Raymond became the tenth person in the world to be diagnosed with #VAMP2, an ultra-rare neurodevelopment disorder with hypotonia and autistic features with or without hyperkinetic movements.

Says Alex:

“VAMP2 is a complicated diagnosis. There are now 18 different variants — with 20 cases around the world, only two cases have the same variant.”

Research is still in its early stages — but that isn’t stopping Alex from raising awareness, spurring research, and even launching her own foundation.

Recently, Alex sat down with Patient Worthy to discuss what VAMP2 is, why she launched her website, upcoming research, and how she hopes to make a change not just for Raymond, but for the #RareDisease community as a whole.

BOTH PARTS of Alex’s story are now live. Start reading here: https://patientworthy.com/2023/01/05/alex-gaudlap-ultra-rare-vamp2-awareness-pt1/
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#PatientWorthy #RareDiseaseAwareness #RareDiseases #ParentingRare #Genetics #GeneticDisorder #GeneticDisease #RareMom #MedicalMom #VAMP2Awareness #VAMP2Gene #RareDiseaseDay

It’s no secret that profound racial and ethnic h

It’s no secret that profound racial and ethnic health disparities exist within the US healthcare system. But when Ronya Nelson saw these same inequities in #GeneticCounseling, she decided to make a change.

She launched @dnaincolor 🧬

Through this platform, Ronya is documenting her own journey towards becoming a genetic counselor, while also sharing information and insights to close the diversity gap in #genetics.

In her interview with Patient Worthy, Ronya shares:

“There are not many genetic counselors who are women or people of color, and especially not women of color. I want to make a difference, provide a different face, and make others feel comfortable. Right now, there are a lot of groups that have been historically underrepresented in healthcare and are now understandably mistrustful of the system. I want to make sure that all voices are heard.”

Head to https://patientworthy.com/2022/12/15/dna-in-color-closing-diversity-gap-genetics-pt1/ to learn more about Ronya, conditions that are more prevalent in minority communities, barriers to care, and potential solutions.
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#PatientWorthy #GeneticCounselor #Interview #GeneticTesting #DNAinColor #RareDisease #PublicHealth #DiversityMatters #Hyperthyroidism #HealthInequity #HealthInequality #BarriersToCare #Healthcare #SickleCellDisease #SickleCell #SickleCellAnemia #Lupus

We believe rare disease patients are people, not a diagnosis. Through education, awareness and some humor, we help patients, caregivers and support persons by providing relevant and often inspirational news and stories.

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