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I Advocate Not Only For Melissa, But For All People With PA

by Kathy Stagni, as-told-to AllStripes
It’s important us PA parents keep using our voices to push for more research.
Anna smiling at the camera

‘I Was Raised Reading Food Labels’

by Anna, as-told-to José Vadi
I'm beginning to understand a lot of the things that are going on with my body and things that I can do to have at least a little bit of agency.
Photo shows Quinn standing in the middle of his father and mother, Dana

Quinn Finds Joy in Everything

by Dana Faerdy, as-old-to AllStripes
Every milestone is so much bigger to us because he does things we thought alpha-mannosidosis might not ever allow him to do.
Taylor smiling in a sunflower field.

The Truth About Growing Up With Fabry Disease

By Taylor, as-told-to AllStripes
I am just trying to be as honest as possible... Growing up having this disease has been pretty rough.
Callaway running through a field

‘A Liver Transplant Is a Huge Freaking Deal’

by Carina Farkas, as-told-to AllStripes
MMA is such a small part of the picture of what her life looks like, and now we can really just bask in the joy of Callaway experiencing life.

We Were Asking Questions Nobody Could Answer

by Patrick, as-told-to José Vadi
Those first few hours were tough; we were asking questions nobody could answer because MMA is rare.
Craig wears sunglasses on a sidewalk and faces the camera.

Having IBM Taught Me to Live Day by Day

By Craig, as-told-to José Vadi
You have to do what you can while you can because in the future it’s going to be more difficult.
Sara wears glasses and smiles directly at the camera.

Jana and I Were Each Other’s Friends

By Sara, as-told-to AllStripes
Our parents wanted us to feel "normal," but we didn't feel normal at all.
Ikedra looks straight at the camera and smiles.

As a Black Woman, I Felt Like My Pain Wasn’t Taken Seriously

By Ikedra, as-told-to AllStripes
Since getting a diagnosis of Klippel-Trenaunay syndrome at 27, I’ve been able to better advocate for myself and others with my condition.
Sean looks straight at the camera, smiling.

‘Even Though I’m in Remission, I’m Still Tired’

By Sean Powell, as-told-to AllStripes
My interest is in remembering how afraid I was being in the hospital and not having a single person that I could talk to that understood what I was going through. That's why I've stayed connected.
Jax holds his parents hands and walks on the beach, facing the camera.

Life With Leigh Syndrome Is Even Bigger Than I Thought It Would Be

By Lindsey Flynt, as-told-to AllStripes
Collaboration is key, and that's what we need more of in research.
Two headshots side-by-side: James faces the camera, as does Andrea.

‘Growing Up, I Was Different From Everyone Else’

By Andrea and James
James and Andrea discuss living with a PIK3CA-related overgrowth spectrum diagnosis and isolation, the power of contributing medical records to research — and what adults can learn from kids’ reactions to physical differences.
Jamie is behind her son Bradley. Both are smiling into the camera.

Even as a Nurse, I Was Overwhelmed

By Jamie Barlow, as-told-to AllStripes
I can’t imagine how parents without medical training take care of children with ALD.
A close up image of two people at a table having coffee. Their faces are not visible but we can see their hands and the coffee cups

Advice for a Parent Raising a Rare Child, From a Rare Adult

By Dulce Wold and Kelsie Bowen
“Instill confidence in him by letting him know he can do and be whatever he wants no matter what.” 
Kristen is smiling directly at the camera, trees behind her.

I Will Always Have Dwarfism

By Kristen DeAndrade, as-told-to AllStripes
For me, undergoing a controversial treatment like limb-lengthening was another opportunity to use my voice.
Thomas is in a black graduation gown, playing a blue and white electric guitar.

Going From ‘Crigler Kid’ to Post-Transplant Adult

By Thomas Hiscock
I’m traveling new paths, navigating the intersections of my past and present selves.
Sadie, a young child, is held by her dad as her mom looks on lovingly.

A Day in the Life With Sadie

By Ashley Smith Haywood, as-told-to AllStripes
Sadie hasn't really regressed as much as most kids her age with Sanfilippo, but the more therapy, the better.
Nicole with her husband and their daughter, Gabby, face the camera, with trees in the background.

How TikTok Can Raise Awareness for MLD

by Nicole DiStefano, as-told-to AllStripes
When we ask Gabby, “You want to do a TikTok?” she smiles and gets happy.
Michael wears a tie and suit and looks directly at the camera, trees behind him.

The Coach Taking on Sarcoidosis

by Michael Patterson, as-told-to José Vadi
Michael Patterson turned his passion for coaching football and mentoring into an effort to combat the effects of sarcoidosis.
Amanda and Jose standing in a forest, facing the camera, with their two children.

No Family Facing a Rare Diagnosis Should Get Outdated Information

By Amanda and Jose, as-told-to José Vadi
After our daughter was diagnosed with Kabuki syndrome, we were given outdated educational material. I don’t want that to happen to anyone else.
Addy wears yellow glasses and a magenta top and smiles at the camera.

What’s Really Important in Life

By Lisa Weith, as-told-to José Vadi
After my daughter was diagnosed with MELAS and Leigh syndrome, our family decided to embrace doing fun activities and taking pictures to remember it all.
Julian, Daniel and Keith, all smiling and using wheelchairs.

When Your Child’s Experience Can Help Someone Else

by Michelle and Danielle, as-told-to AllStripes
Danielle and Michelle of Love Never Sinks discuss how information gathered from the previous generation of children with Lesch-Nyhan syndrome is helping families today.
Claire wears a leather jacket and faces the camera, with the side of her face in her palm.

It’s Not ‘Just’ Fatigue

By Claire O’Meara, as-told-to José Vadi
Getting diagnosed with Fabry disease was a relief in some ways — to know that there was actually something wrong.

Playing Cody on ABC's 'The Good Doctor' and Representing Kabuki Syndrome on TV

by Mathew Horner, as-told-to AllStripes
I hope my debut TV appearance will raise awareness, encourage research and remind everyone that people with Kabuki syndrome should follow their dreams.
Teryn wears purple and has her arm around her daughter, Lindy, who holds a photo of Teryn's youngest daughter, Darcee, who passed away from complications of MLD.

We Don’t Want Other Parents to Feel the Same Pain

By Teryn Suhr, as-told-to AllStripes
Families who have felt the devastation of MLD want to help, and participating in research is one way to do that.
Raghavendran wears a blue and purple print shirt and faces the camera.

What Boldness Means to Me

By Raghavendran Srikanthan, as-told-to José Vadi
My experience with Leigh syndrome has opened my eyes to how many people are impacted by rare disease — and what we can do about it.
Elle's headshot: Elle looks straight at the camera, smiling and wearing a pink shirt.

How I Start Conversations About Sickle Cell

by Elle Cole, as-told-to José Vadi
People I meet ask me what I do and I say, “I write children’s books for kids with sickle cell disease.”
This is a photo of all four of Liz's children — Tyler, Katie, Faith and Serina — on the beach as young kids.

Lifting Up Legacy Families

by Liz Heinze, as-told-to José Vadi
I’ve realized how much families like mine can help families currently dealing with the everyday challenges of NPC.
Jerry smiles and faces the camera. He's wearing a yellow and white shirt and a smile, and there's a piece of art on the wall in the room behind him.

Living With a Rare Disease Is Not Cheap

By Jerry Williams, as-told-to José Vadi
As the founder of Myositis Support and Understanding Association (MSU), I’ve seen and experienced how far-ranging the impact of living with a rare disease like dermatomyositis can be.
Lynn wears glasses and earrings. She's facing the camera, with a scene of water, boats and a dock behind her.

Finding a New ‘Normal’

By Lynn, as-told-to AllStripes
Having dermatomyositis is life-changing, and you never know what your new normal is going to be.
Kelsie appears with her son, Lincoln, who's facing the camera camera and smiling with his finger in his mouth.

The Power of Hashtags

By Kelsie Bowen, as-told-to José Vadi
After my son Lincoln was diagnosed, I started connecting with others all over the world about their PROS journeys.
Matthew, who is 11, looks directly in the camera with a calm expression. He's wearing a zebra headband and a navy-blue shirt.

11-Year-Old Matthew Has Advice for Anyone Whose Sibling Has a Rare Disease

by Taylor Kane
Matthew and his older brother, Michael, enjoy goofing around together — just ask them what happened with a name tag at the National Institutes of Health!
A black-and-white headshot of Teonna Woolford, looking straight at the camera with a restaurant in the background.

Dreams of Motherhood, Deferred

By Teonna Woolford
As the founder of Sickle Cell Reproductive Health Education Directive, I’m fighting to end disparities and offer resources I wish I'd been able to access earlier on my infertility journey.
Bethany is wearing a pink shirt that says "My Voice Is My Superpower," and she's holding two of her children.

I Know Firsthand the Treatment Options Are Not Adequate

by Bethany, as-told-to Taylor Kane
Bethany, the co-founder of the Allo Hope Foundation, describes how her experience with alloimmunization and HDFN changed her life forever.
Leila's daughter Roya faces the camera, lying on a white blanket with teal elephants.

The Most Important Thing I’ve Learned Since My Daughter Was Diagnosed With Kabuki Syndrome

By Leila, as-told-to AllStripes
Life with Roya means our family has to just let go a little bit and be in the present.
A photo of Christina with her husband, Ezra and her daughter.

What I Realized After My Son Ezra Was Diagnosed With IRF2BPL

By Christina Santos, as-told-to José Vadi
Talking to other parents in the IRF2BPL community might not immediately change our situation, but it does validate our family’s experience with this ultra rare condition.
Melissa and Dean surround their daughter, Haley, who is wearing a blue jacket and a purple top.

Our Daughter's Batten Disease Diagnosis Made Us Determined

By Melissa Pollman, as-told-to AllStripes
Haley loves singing and horses, but watching little pieces of her fall away has been hard. It’s why we founded the Haley’s Heroes Foundation.
Marlin stands with his family in a desert.

For Me, CN1 Meant a Liver Transplant — and Learning to Sleep Without Phototherapy Lights

By Marlin Newswanger, as-told-to AllStripes
These days, I'm managing a liver transplant rather than CN1.
Sylvia and her mother smile with their heads pressed together, in a room with red walls.

‘Hi, My Mom Has PSP’

By AllStripes
Listen to Sylvia and Mubina explain how they bonded for life over caring for their mothers, who both had the rare disease progressive supranuclear palsy.
Maria faces the camera and wears a black dress with flowers.

What I Want People to Understand About Having Morquio A

By Maria, as-told-to José Vadi
“There are times when it’s not fun, but there are benefits you’ll see once you accept the diagnosis and begin to meet others.”

‘My Purpose Right Now Is to Help Her Be the Best She Can Be’

By Cat Cooke
Lara is the mother of Eden, a bubbly 13-year-old with a rare condition. After years of symptoms, Eden was diagnosed with Kleefstra syndrome at 8 years old.
Ade smiles, facing the camera and wearing a blue top.

‘Why Not Try to Live a Little?’

By José Vadi
Community builder Ade Adeyokunnu refuses to let sickle cell keep him from living.

‘You Have to Stay Positive — But You’ve Got to Get to That Point First.’

By José Vadi
Blaine has fully embraced the community that helped him through the early years of his diagnosis with IBM, a rare muscle disease.
Barry and his wife Sarah appear on their wedding day, smiling in their finery.

What It’s Like to Live With a ‘Children’s Disease’ at 38

By Cat Cooke
Barry is a gregarious, outgoing jokester. He’s also leading the charge for adult GM2 research.

‘No One Could Figure Out What Was Wrong’

By Taylor Kane
After Alexis began experiencing eye pain, a doctor predicted she had a long diagnostic journey in front of her. He was right.

A Glimpse Into Linnea’s Future

By José Vadi
After Dinah’s daughter was diagnosed with CCM3, a rare condition that causes brain lesions, she went looking for clues about what might lie ahead.

‘We Didn’t Know What Was Happening to Her’

By José Vadi
Julie’s daughter Amber, who has Kleefstra syndrome, went through a period of regression that stumped her doctors.

Karen Wants More People to Know Her Son — and to Learn About Lesch–Nyhan Syndrome

By Cat Cooke
Karen would rather people take a straightforward interest in Doug than stare at him.

‘It’s About More Than Just Me’

By Taylor Kane
How Julianne, a young adult with Gorham-Stout disease, is pushing past her own discomfort to help others.

The Answer to a Question James Had Been Asking for 31 Years

By Taylor Kane
How making a friend in the rare-disease community led to an accurate diagnosis of PROS.

Stella's CDKL5 Diagnosis Showed Him What Life Is All About

By José Vadi
Joe is determined to help his family, one meal at a time.

Bullied Because of a Rare Condition, This Dancer Is Now Redefining Beauty

By Cat Cooke
Andrea was rejected for professional dance jobs because PROS caused growths to develop on her face, but she refused to let society’s standard of beauty stop her from living out her passion.

Scott Isn’t Going to Let His IBM Diagnosis Define Him

By Taylor Kane
Scott was diagnosed with IBM four years ago, but works hard to keep doing the things he enjoyed before.

Shaye Is Grateful That Social Media Can Connect Her With Others Impacted by HDFN

By Taylor Kane
When Shaye first learned she and her baby were at risk for complications, she felt confused and devastated. Then she found others who'd been in her shoes.

How a Sore Throat Led to Elizabeth’s GLA Diagnosis

By Cat Cooke
When Elizabeth went to a doctor to treat her sore throat, she discovered that it was actually a symptom of a rare disease she’d unknowingly been living with her whole life.

A Coin-Sized Dent in Sarah’s Skull Was the First Sign of GSD, or ‘Vanishing Bone Disease’

By Cat Cooke
When Sarah discovered a large dent on top of her head, it took several doctors to figure out that she had Gorham-Stout disease, which affects only 200 people in the world.

A Repurposed Drug Helps Michael Do the Things He Loves, While KLA Research Continues

By Taylor Kane
As physicians, Michael’s parents struggled with watching him suffer from unexplained symptoms, without a diagnosis or path to make everything better.

Mick Has a Daily Practice for Coping With His CIDP Diagnosis

By Cat Cooke
“For 30 minutes in the morning, I allow myself to feel sorry for myself. But after 30 minutes, I have to go to work. And next thing you know, you’re back and making dinner.”

Mandy Is the First Person in the World Found With This Variant in the PIK3CA Gene

By Taylor Kane
Mandy was born with overgrown lower limbs and a club foot. It took 30 years to find out the true cause.

‘It’s Important to Us That People Know Who She Was’

By Taylor Kane
Caitrin lost her daughter to Sandhoff disease and sees contributing to research as one way to make sure Embree's memory lives on.

How Having a Child With a Rare Disease Changed Danielle’s Teaching Style

By Taylor Kane
Doctors initially thought Julian had cerebral palsy, but after genetic testing, he was eventually diagnosed with Lesch-Nyhan disease. Now, his mother brings what she's learned from this experience into the classroom.

What Kristen Learned After Her Son Sam Was Diagnosed With GM2

By Taylor Kane
When Kristen describes infantile Tay-Sachs disease to her friends, she tells them to imagine Alzheimer’s or dementia in a baby.

These Partners On and Off the Dance Floor Are Pushing for PSP Research Together

By Taylor Kane
Diane and Wayne used to be ballroom dancers. Now, Diane doesn’t have the muscle control or balance to dance.

When She Couldn’t Find a Video of a Woman in a Wheelchair Dancing at Her Wedding, Deborah Made One Herself

By Taylor Kane
Deborah was experiencing symptoms of myasthenia gravis for four years before receiving a diagnosis — right before her vow renewal.

Jessie’s Son’s CCM3 Diagnosis Unlocked a Family Medical Mystery

By Taylor Kane
A seizure and a medical conundrum from her husband’s past were the clues to a condition that affects Jessie’s whole family.

Al’s Love for Prince and Phish Helps Him Cope With GM2

By Taylor Kane
In the span of a month, Al was diagnosed with late-onset Tay-Sachs disease and his fiancée broke off their engagement. Here's how he learned to surrender to the flow.

After Victor Was Diagnosed With CLOVES and MCAP, Jenny Decided to Focus on the Things He Can Do

By Taylor Kane
Jenny’s son, Victor, was born with an enlarged cheek, which turned out to be a fatty overgrowth caused by a mutation on Victor’s PIK3CA gene.

How Leeya’s GLA Diagnosis Tested Friendships and Led to a Passion for Advocacy

By Taylor Kane
Leeya explains how a difficult time in her life allowed her to realize who her true friends are — and steered her toward advocating for the rare disease community on social media.

How Stephan Learned to Cope With His Son’s Completely Unexpected Diagnosis of SURF1-Associated Leigh Syndrome

By Taylor Kane
Today, Ben is 5 years old. Stephan describes him as the funniest and smartest person he knows and a “very wise soul.”

How Larry Is Honoring His Wife Rachel

By Catherine Cooke
“I miss her so much but know she is in a better place eating cookies, talking walks, playing piano and playing Cribbage and Yahtzee with her dad,” says Larry, whose wife Rachel passed away due to complications of PSP.

Manuel Wants to Make Sure Newcomers to the IBM Community Get Support From the Start

By Taylor Kane
Manuel sees the people around him as his greatest strength, and believes that finding the IBM community has given him purpose.

The Kleefstra Community Helped Matt Adjust to His Family's New Reality

By Catherine Cooke
One of the best ways Matt has found to adjust to his daughter Wynne's diagnosis is by connecting with others in the Kleefstra community.

I’m Grateful for Every Moment I Get to Spend Alive and Well

By Thomas H., AllStripes CN1 Ambassador
In his own words, Thomas shares his experience growing up with Crigler-Najjar Syndrome, Type 1, and receiving a liver transplant that changed his world.

What Charles Has Learned From the CCM3 Community

By Taylor Kane
“Gratitude for what we have today (however flawed by symptoms) is always preferable to wasting your emotional strength on lamenting a loss of function."

Together, We Are a Force

By Kristen F., AllStripes CCM3 Ambassador
In her own words, Kristen shares her CCM3 syndrome journey and what she's learned about the rare disease community.

‘Keep Looking, Keep Working and Keep Fighting’

By Taylor Kane
Yohanna’s son, Xander, was finally diagnosed with a rare condition known as SLC6A1 when he was two. Now, she has a message for other parents currently searching for a diagnosis.

When Children Become the Caregivers

By Brandon F., AllStripes VCP Ambassador
In his own words, Brandon writes about how he and his sister began caring for his mom, a former oncology nurse, when they were still entering adulthood themselves.

‘The Road Ahead Is Going to Be Difficult, But You Are Equipped for It’

By Taylor Kane
Lindsey’s journey with her rare condition has evolved, and so has her ability to fiercely advocate for her needs as a patient and person.

Stephen Started a Facebook Group to Bring Positivity to the Myasthenia Gravis Community

By Taylor Kane
Stephen first began experiencing symptoms of myasthenia gravis when he noticed his vision was blurred while driving home from work.

‘Make Sure You Find a Support System’

By Catherine Cooke
Sherman, who has CIDP, shares his advice for others in the rare disease community.

‘I Have More Hope Now Than I Ever Did Before’

By Taylor Kane
In 2018, Amy was diagnosed with VCP disease. While adjusting to life with a rare disease hasn’t been easy, she has become more spiritual and focused on self-care.

Lindsay Helps Teens With Physical Differences Embrace Who They Are

By Taylor Kane
She hopes that her example will show others that it is possible to live a happy life with CLOVES syndrome.

Whole Exome Sequencing Gave This Family a Diagnosis That Changed Their Whole Perspective

By Taylor Kane
When McKenzie’s daughter, Mia, was diagnosed with Leigh syndrome, McKenzie blamed herself for it. “Because it’s inherited,” she explains, “you get that feeling that you contributed in some way.”

‘I Would Gladly Trade My Disability Plate for a Cure’

By Taylor Kane
John was diagnosed with late-onset Tay-Sachs, and now he's raising awareness about the condition while continuing to pursue his passions.

After 40 Years of Questions, These Siblings Finally Got an Answer

By Taylor Kane
Theresa’s children, both in their 40s, were recently diagnosed with alpha-mannosidosis after almost a lifetime of experiencing symptoms.

How Kim’s Parental Intuition Helped Her Son James Get Diagnosed

By Catherine Cooke
Kim’s son James began experiencing strange symptoms while away at college. The mystery condition began taking over his life, and eventually Kim tracked down what was happening: Wilson disease.

Tim’s Rare Disease Journal Is Helping Thousands of People Find Hope

By Catherine Cooke
One wrong click of the mouse led to Tim unknowingly publishing his online journal about progressive supranuclear palsy for all the world to see. He never could've imagined what happened next.

Andrea Wants People With Rare Disease to Be Treated Like Everyone Else

By Taylor Kane
When Andrea was diagnosed with late-onset Tay-Sachs disease at 33, she didn’t know what to expect. Today, life looks different, but she still enjoys the hobbies she loves the most.

What Happened When Kasey Joined Forces With Other Parents

By Taylor Kane
Ever since her son, Will, was diagnosed with SURF1-associated Leigh syndrome, Kasey has gone to great lengths to drive forward research not only for his disease, but for other rare diseases as well.

‘Just Keep Grinding’: How Jareb Deals With Wilson Disease

By Catherine Cooke
Jareb began experiencing symptoms of Wilson disease when he was a preteen. Today, he uses diet and medication to manage his condition, and has made creative adaptation in his work life.

To Honor Her Sons’ Legacies, This Mom Dedicated Her Life to Helping Others

By Taylor Kane
Michelle lost both of her sons to a rare condition called Lesch-Nyhan disease. Almost a decade later, she remains a leader in the Lesch-Nyhan community and works tirelessly to support caregivers and patients.

How Having a Rare Disease Took a Toll on Leah’s Friendships

By Catherine Cooke
Leah found that living with myasthenia gravis (MG), an “invisible” disease, was often misunderstood by her friends and family. But with incredible strength and positivity, Leah has navigated through her hardships and now celebrates a community dedicated to uplifting rare disease patients.

After Her Daughter Jessica Was Diagnosed With NF2, Lisa Knew Knowledge Would Be Power

By Catherine Cooke
"As soon as I had the genetic results, I wanted to get it out to anyone who was willing to listen."

This Mom Is Fighting for Answers After Losing Two of Her Children to a Rare Disease

By Catherine Cooke
Deborah is determined to help other families impacted by GM1 gangliosidosis to honor her sons, Luke and Isaiah.

‘I Decided to Fight Like a Mother’

By Catherine Cooke
"I’m not someone who has ever asked for help," says Kim, whose son Charlie lives with a rare disease referred to as SLC6A1. "I don’t do it in any other aspect of my life. But in this situation, I have no choice: ask for help or watch my son suffer.”

These Parents Took a Gamble to Save Their Son’s Hearing From a Rare Disease

By Catherine Cooke
Lara and Ron have had to make tough decisions in the fight against their son’s rare disease, including whether to undergo a potentially risky brain surgery.

How Randy Found a New Purpose

By Catherine Cooke
Once devoted to his job, he is now devoted to supporting others with myositis.

'Don't Panic. You're Not Alone.'

By Catherine Cooke
Nicole's daughter Olivia is living with CDKL5, a rare disease characterized by frequent seizures. She has some advice for other parents raising rare children.

‘There Really Isn’t Anyone Else Who Understands’

By Catherine Cooke
Gary was diagnosed with PSP, a rare disease that often presents with symptoms similar to Parkinson’s disease. He’s struggled with the condition, but also the feelings of isolation and frustration that accompany it.

These Parents Raised $3 Million to Jumpstart Research on Their Daughter’s Rare Disease

By Catherine Cooke
After their daughter Iris was diagnosed with the rare disease GM1, Douglas and Christine decided to find answers by forging their own path.
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