Photo courtesy of Geraldine Bliss

Raising Phelan-McDermid Syndrome Awareness (And How YOU Can Get Involved at the EL-PFDD Meeting!): An Interview with Geraldine Bliss (Pt. 1)

• Post author:Jessica Lynn
• Post published:November 4, 2022
• Post category:Phelan-McDermid syndrome

On November 8th, 2022, CureSHANK is sponsoring an Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting for Phelan-McDermid Syndrome (PMS). Co-planned by the Phelan-McDermid Syndrome Foundation, this virtual EL-PFDD meeting will: [give]…

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Boy with Craniosynostosis Faces Third Surgery

• Post author:Jessica Lynn
• Post published:November 4, 2022
• Post category:Craniosynostosis

Branson Figueroa is four years old – and he’s tough. He has to be; after being born with craniosynostosis, Branson has had to undergo skull reconstruction surgeries twice already. According…

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Glasgow Council Candidate with Leigh Syndrome Advocates for the Disabled

• Post author:James Moore
• Post published:November 3, 2022
• Post category:Leigh syndrome

According to a story from MSN, Joe McCauley was diagnosed with Leigh syndrome, a rare disease, last year. Now 30 years old, he was fortunate to survive a bout of…

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When Living with a Rare Disease, Isolating Ourselves can Often Feel Less Lonely

• Post author:Tom Seaman
• Post published:November 3, 2022
• Post category:Dystonia

This may sound like a strange title so let me explain. I live with a health condition called dystonia, which is a neurological movement disorder. It is the third most…

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Mom Runs Chicago Marathon to Raise CCHS Awareness

• Post author:Jessica Lynn
• Post published:November 2, 2022
• Post category:Congenital central hypoventilation syndrome

Laura Brown never planned on running more than one marathon. In 2012, she tackled a marathon as a way to cross an item off of her bucket list. But since…

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“For Seven Years I Thought I had a Perfectly Healthy Child” – Jessica’s Story

• Post author:Patient Worthy Contributor
• Post published:November 1, 2022
• Post category:Familial Hypercholesterolemia

This story was originally published by the Family Heart Foundation, a Patient Worthy partner organization. When Jessica’s father died of a heart attack at the young age of 54, she…

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How Life Before and After Chronic Pain from Dystonia Changed My Entire World

• Post author:Tom Seaman
• Post published:October 26, 2022
• Post category:Dystonia/Rare Disease

For most of my 21 years with chronic pain and other symptoms from dystonia, a neurological movement disorder, I viewed it as a curse; an evil intruder that ruined my life.…

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The Finn Beaubien family, courtesy of Bridget Finn

How Bridget Finn’s “FLOURISH” is Working to Eradicate STXBP1 (Pt. 2)

• Post author:Jessica Lynn
• Post published:October 21, 2022
• Post category:STXBP1 disorders

Before you read on, make sure you have read Part 1 of our interview. In Part 1, Bridget discusses what STXBP1 disorders are and the diagnostic journey her family went…

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New Mom Raises Bell’s Palsy Awareness

• Post author:Jessica Lynn
• Post published:October 20, 2022
• Post category:Bell's Palsy

When Elena Sheppard, 35, was first told that she was pregnant with twins, she was thrilled. Her pregnancy went by fairly smoothly for the most part. However, she woke up…

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The Finn Beaubien family, courtesy of Bridget Finn

How Bridget Finn’s “FLOURISH” is Working to Eradicate STXBP1 (Pt. 1)

• Post author:Jessica Lynn
• Post published:October 20, 2022
• Post category:STXBP1 disorders

“Together, we can do hard things.” That’s the mission of Clara Inspired, a nonprofit organization that aims to raise awareness and funds to cure genetic disorders like STXBP1 disorders. It’s…

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A Metastatic Breast Cancer Diagnosis at Age 24: Savanah’s Story (Pt. 2)

• Post author:Jessica Lynn
• Post published:October 19, 2022
• Post category:Breast Cancer/Metastatic Breast Cancer

Before you read on, don't forget to take a look at Part 1 of our interview. In Part 1, Savanah discussed what metastatic breast cancer (MBC) is, her diagnostic journey, and treatment…

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10-Year-Old with AMC is Living His Dream as a DJ

• Post author:Jessica Lynn
• Post published:October 18, 2022
• Post category:Arthrogryposis/Arthrogryposis Multiplex Congenita

If you’re into electronic music, you need to check out DJ Funk Puppy. This ten-year-old (who goes by Richard Tyler Greene III in his day-to-day life) is a talented DJ,…

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One in 50 Million: Life as a Woman with Duchenne Muscular Dystrophy

• Post author:Patient Worthy Contributor
• Post published:October 18, 2022
• Post category:Duchenne Muscular Dystrophy

Chances are, you’ll never meet anyone like Lizanne, a 22-year-old woman from the Netherlands. Not only is she extraordinarily passionate about storytelling and filmmaking, but she was diagnosed with a…

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Raising Chronic Granulomatous Disease (CGD) Awareness: Branden’s Story

• Post author:Jessica Lynn
• Post published:October 18, 2022
• Post category:Chronic Granulmatous Disease

When Branden was just a young child, he was diagnosed with a rare genetic disorder called chronic granulomatous disease (CGD). Now, at 33 years old, Branden is passionate about raising…

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A Metastatic Breast Cancer Diagnosis at Age 24: Savanah’s Story (Pt. 1)

• Post author:Jessica Lynn
• Post published:October 18, 2022
• Post category:Breast Cancer/Metastatic Breast Cancer

October is Breast Cancer Awareness Month. This month is dedicated to raising awareness about the impact of breast cancer, raising funds for research, supporting those with breast cancer, and advocating…

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Dad Raises CMT Awareness After Diagnosis

• Post author:Jessica Lynn
• Post published:October 13, 2022
• Post category:Charcot-Marie-Tooth disease

For as long as he could remember, Georgie Davey had one word that he thought described himself: “clumsy.” When he was a child, Georgie would frequently trip and fall. He…

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Abortion Access can be Life-Saving for Ehlers-Danlos Syndrome Patients

• Post author:James Moore
• Post published:October 10, 2022
• Post category:Ehlers Danlos Syndrome/Ehlers-Danlos Syndrome

According to a story from Undark, Renee Schmidt's first signs of Ehlers-Danlos syndrome became really noticeable when she was a freshman in college. She would experience brief bouts of memory…

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Man Cycles Across America to Raise PKD Awareness

• Post author:Jessica Lynn
• Post published:October 7, 2022
• Post category:Polycystic Kidney Disease

  Growing up, Will Kleemeier learned all about polycystic kidney disease (PKD). He had several family members with PKD, so he knew that there was a chance that he too…

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How “My Rare ID” Supports the Rare Disease Community: An Interview with Jeff Lord (Pt. 2)

• Post author:Jessica Lynn
• Post published:October 6, 2022
• Post category:Addison's Disease/Addison’s Disease/Panhypopituitarism/Timely

Before you continue, make sure you've read Part 1 of our interview, where we discussed the Lord family's story and experience with rare disease, and the development of MobiMedQR. This tool, which…

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Fabry Disease: Fifth Generation Patient Meets with the FDA to Improve Therapies

• Post author:James Moore
• Post published:October 6, 2022
• Post category:Fabry Disease

Jack Johnson was diagnosed with Fabry disease when he was just seven years old. He likes to compare living with the rare disease to long COVID, but unlike long COVID,…

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Adrenoleukodystrophy: Giving up on Fatherhood to Avoid Passing Down a Rare Disease

• Post author:James Moore
• Post published:October 5, 2022
• Post category:Adrenoleukodystrophy

According to a story from the Glasgow Times, David Steed of Paisley, UK, was diagnosed with adrenoleukodystrophy when he was 18 years old. At the time, he didn't have any…

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Jordan and Dr. Byrne. Photo courtesy of David Ogman

Saving Jordan Ogman: How One Family is Working Towards a TECPR2 Cure (Pt. 2)

• Post author:Jessica Lynn
• Post published:October 5, 2022
• Post category:TECPR2

If you haven't already, don't forget to go and read Part 1 of our interview. In Part 1, David Ogman and I discuss his son Jordan's TECPR2 diagnosis, the diagnostic journey,…

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How “My Rare ID” Supports the Rare Disease Community: An Interview with Jeff Lord (Pt. 1)

• Post author:Jessica Lynn
• Post published:October 5, 2022
• Post category:Addison's Disease

When asked his most important piece of advice for families within the rare disease community, Jeffrey Lord said: Do what you can control and move on from there. Every day,…

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SUNCT – A Rare Headache Disease

• Post author:Anna Williams
• Post published:October 4, 2022
• Post category:Rare Disease

Imagine feeling like you have a sweat bee stuck in your eye socket that randomly stings you. The sting hurts for seconds. My left eye is red and tearing. My…

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Fundraiser Held for Boy with PCH6

• Post author:Jessica Lynn
• Post published:October 4, 2022
• Post category:Pontocerebellar Hypoplasia

  In his early stages of life, Austin (A.J.) Rose was diagnosed with an ultra-rare disease called pontocerebellar hypoplasia type 6 (PCH6). Now, at three years old, A.J. is a…

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