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David’s Story: Familial Hypercholesterolemia
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David’s Story: Familial Hypercholesterolemia

  • Post author:James Ernest Cassady
  • Post published:April 18, 2016
  • Post category:Familial Hypercholesterolemia

Not many people would consider a heart attack to be a positive event, but for David Collings that's exactly what it turned out to be. While out walking with his…

Continue Reading David’s Story: Familial Hypercholesterolemia
4 Year Old with Super Cool Glasses and Myasthenia Gravis
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4 Year Old with Super Cool Glasses and Myasthenia Gravis

  • Post author:Patient Worthy Contributor
  • Post published:April 1, 2016
  • Post category:Myasthenia Gravis/Rare Disease

When Myasthenia Gravis is diagnosed in a child, it is called juvenile myasthenia gravis (JMG). But for 4 year old Julius Chatman, the diagnosis was ocular myasthenia gravis. A very rare case,…

Continue Reading 4 Year Old with Super Cool Glasses and Myasthenia Gravis
 A Story That Will Break Your Heart…And Then Lift You Up

 A Story That Will Break Your Heart…And Then Lift You Up

  • Post author:James Ernest Cassady
  • Post published:March 23, 2016
  • Post category:Aplastic anemia/Rare Disease

[I ]took a deep breath and fell into a deep sleep. Little did I know, I would stay asleep for a month and a half. Welcome to the blog of…

Continue Reading  A Story That Will Break Your Heart…And Then Lift You Up
He Ain’t Heavy, He’s My Brother

He Ain’t Heavy, He’s My Brother

  • Post author:Patient Worthy Contributor
  • Post published:March 17, 2016
  • Post category:Rare Disease

What makes a young boy’s eyes light up?  What makes him shuffle his feet with excitement or smile from ear to ear?  One would think it would be a new…

Continue Reading He Ain’t Heavy, He’s My Brother
This Girl’s Incredible Spirit Will Make You Forget She Has Pompe

This Girl’s Incredible Spirit Will Make You Forget She Has Pompe

  • Post author:Farrah Fontaine
  • Post published:March 16, 2016
  • Post category:Pompe Disease

What would you do if you were told that your six-month-old daughter had a rare genetic disorder and wouldn't live past a year? Would you: A. Cry hysterically B. Punch…

Continue Reading This Girl’s Incredible Spirit Will Make You Forget She Has Pompe
Could You Have Addison’s Disease and Not Know It?

Could You Have Addison’s Disease and Not Know It?

  • Post author:Erica Zahn
  • Post published:March 8, 2016
  • Post category:Addison's Disease

Adrenal insufficiency, where the adrenal gland does not produce enough of certain hormones, like cortisol, is the cause of a very rare condition called Addison's disease. And Lita Newdick knows…

Continue Reading Could You Have Addison’s Disease and Not Know It?
21 Years Later, a Diagnosis of Gaucher Disease Answers Her Questions

21 Years Later, a Diagnosis of Gaucher Disease Answers Her Questions

  • Post author:Erica Zahn
  • Post published:February 25, 2016
  • Post category:Gaucher Disease

Tamara Isaacs Ciocci spent 21 years searching for a diagnosis for her type 1 Gaucher disease--despite the fact that her own father was a doctor. Although, that's not too surprising…

Continue Reading 21 Years Later, a Diagnosis of Gaucher Disease Answers Her Questions
If Seeing Is Believing, This Mother Will Make You Believe In POTS

If Seeing Is Believing, This Mother Will Make You Believe In POTS

  • Post author:Alisha Stone
  • Post published:February 24, 2016
  • Post category:Dysautonomia/POTS/Rare Disease

Okay, people! Let’s hear it for Kristen, a fiercely determined young woman who refuses to give up after being diagnosed with postural orthostatic tachycardia syndrome (POTS). I feel absolutely dumbstruck…

Continue Reading If Seeing Is Believing, This Mother Will Make You Believe In POTS
I’ll Take Off YOUR Head, If You Tell Me POTS is All in MY Head

I’ll Take Off YOUR Head, If You Tell Me POTS is All in MY Head

  • Post author:Erica Zahn
  • Post published:February 23, 2016
  • Post category:Dysautonomia/POTS/Rare Disease

According to Cosmopolitan, Crista Procopio, a woman from Phoenix, Arizona, had a tough time getting through to doctors that the severe dizziness, pain, and digestive issues she was living with were…

Continue Reading I’ll Take Off YOUR Head, If You Tell Me POTS is All in MY Head
How One Simple Test Saved This Boy’s Life

How One Simple Test Saved This Boy’s Life

  • Post author:James Ernest Cassady
  • Post published:February 23, 2016
  • Post category:Tyrosinemia

Shortly after Joshua Holdner was born, he entered into a fight for his life. He had a hard time nursing, and when he did eat, it was quickly followed with…

Continue Reading How One Simple Test Saved This Boy’s Life
Wheelchair Athlete Settles Case After Getting Stuck in Lift at Northern Regional College

Wheelchair Athlete Settles Case After Getting Stuck in Lift at Northern Regional College

  • Post author:EmpatheticBadass
  • Post published:February 22, 2016
  • Post category:Dystonia/Rare Disease

Anyone who’s ever been in a wheelchair or knows someone who has, knows the frustration of “you can’t get there from here.” All you want to do is live your…

Continue Reading Wheelchair Athlete Settles Case After Getting Stuck in Lift at Northern Regional College
Extra, Extra! Read All About It: Bone Marrow Donor Needed for CGD Patient!

Extra, Extra! Read All About It: Bone Marrow Donor Needed for CGD Patient!

  • Post author:Erica Zahn
  • Post published:February 22, 2016
  • Post category:CGD/Primary Immunodeficiencies/Rare Disease

When the word came out that a sick baby was in need of a bone marrow transplant and no one in his family was a perfect match, students at Emily…

Continue Reading Extra, Extra! Read All About It: Bone Marrow Donor Needed for CGD Patient!
One Drop of Baby Blood Could Save $$$ Millions $$$ Thanks to Boy in Bubble

One Drop of Baby Blood Could Save $$$ Millions $$$ Thanks to Boy in Bubble

  • Post author:Erica Zahn
  • Post published:February 18, 2016
  • Post category:Rare Disease/SCID

Severe Combined Immune Deficiency (SCID), a primary immune deficiency, was once a fatal disease but is now considered a "pediatric emergency," needing immediate diagnosis and treatment. If it's caught right…

Continue Reading One Drop of Baby Blood Could Save $$$ Millions $$$ Thanks to Boy in Bubble
Goodbye to the Dog Days of Summer, Says Girl with Cystinosis

Goodbye to the Dog Days of Summer, Says Girl with Cystinosis

  • Post author:Kiki Jones
  • Post published:February 18, 2016
  • Post category:Cystinosis

Life with chronic illness requires adaptation, and for kids diagnosed with cystinosis, adapting starts young. Sarah Larimore was barely out of infancy when her parents first heard the word “cystinosis.”…

Continue Reading Goodbye to the Dog Days of Summer, Says Girl with Cystinosis
For the Love of Music: This Man Stayed Awake During BRAIN Surgery!

For the Love of Music: This Man Stayed Awake During BRAIN Surgery!

  • Post author:Erica Zahn
  • Post published:February 9, 2016
  • Post category:Dystonia/Rare Disease

It's said that Nero fiddled while Rome burned--by comparison to a musician in China's activities during brain surgery, Nero had it easy. Imagine jamming out on your guitar while surgeons operate…

Continue Reading For the Love of Music: This Man Stayed Awake During BRAIN Surgery!

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Metastatic Breast Cancer: Navigating Grief


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Rethinking What It Means to Live With Acromegaly


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The Let’s Chat CAR T One-on-One Mentor Program: Speaking with Someone Who Understands What You Are Going Through

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