Ambassador Stories

It’s important us PA parents keep using our voices to push for more research.

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.

Every milestone is so much bigger to us because he does things we thought alpha-mannosidosis might not ever allow him to do.

I am just trying to be as honest as possible... Growing up having this disease has been pretty rough.

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.

Those first few hours were tough; we were asking questions nobody could answer because MMA is rare.

You have to do what you can while you can because in the future it’s going to be more difficult.

Our parents wanted us to feel "normal," but we didn't feel normal at all.

Since getting a diagnosis of Klippel-Trenaunay syndrome at 27, I’ve been able to better advocate for myself and others with my condition.

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.

Collaboration is key, and that's what we need more of in research.

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.

I can’t imagine how parents without medical training take care of children with ALD.

“Instill confidence in him by letting him know he can do and be whatever he wants no matter what.” 

For me, undergoing a controversial treatment like limb-lengthening was another opportunity to use my voice.

I’m traveling new paths, navigating the intersections of my past and present selves.

Sadie hasn't really regressed as much as most kids her age with Sanfilippo, but the more therapy, the better.

When we ask Gabby, “You want to do a TikTok?” she smiles and gets happy.

Michael Patterson turned his passion for coaching football and mentoring into an effort to combat the effects of sarcoidosis.

After our daughter was diagnosed with Kabuki syndrome, we were given outdated educational material. I don’t want that to happen to anyone else.

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.

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.

Getting diagnosed with Fabry disease was a relief in some ways — to know that there was actually something wrong.

I hope my debut TV appearance will raise awareness, encourage research and remind everyone that people with Kabuki syndrome should follow their dreams.

Families who have felt the devastation of MLD want to help, and participating in research is one way to do that.

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.

People I meet ask me what I do and I say, “I write children’s books for kids with sickle cell disease.”

I’ve realized how much families like mine can help families currently dealing with the everyday challenges of NPC.

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.

Having dermatomyositis is life-changing, and you never know what your new normal is going to be.

After my son Lincoln was diagnosed, I started connecting with others all over the world about their PROS journeys.

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!

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, the co-founder of the Allo Hope Foundation, describes how her experience with alloimmunization and HDFN changed her life forever.

Life with Roya means our family has to just let go a little bit and be in the present.

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.

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.

These days, I'm managing a liver transplant rather than CN1.

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.

“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.”

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.

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

Blaine has fully embraced the community that helped him through the early years of his diagnosis with IBM, a rare muscle disease.

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

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

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.

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

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

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

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

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

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

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.

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.

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.

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

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

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

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.

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

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

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

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

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.

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.

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.

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

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

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.

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.

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

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

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.

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.

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

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

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.

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

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.”

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

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

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.

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.

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.

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.

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.

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.

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.

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

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

"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.”

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.

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

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.

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.

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