Skip to main
Individuals
Patient organizations
Patient orgs
Life sciences
About
Blog
Research programs
Sign in
Search
Research programs
Sign in
Ambassador Stories
Blog posts
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.
‘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.
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.
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.
‘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.
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.
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.
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.
‘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.
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.
‘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.
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.
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.”
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.”
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.
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.
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.
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.
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!
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.
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.
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.
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.
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.
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.
‘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.
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.
‘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.
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.
All blog posts
All blog posts
Search for something
Popular links:
Programs
Individuals
About
Blog