Blog

Bullied because of a rare condition, this dancer is now redefining beauty for herself and younger patients

PostedJune 11, 2021 · 3 minute read

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

Through IBM diagnosis, Scott kept his business and his love for baseball

PostedMay 31, 2021 · 3 minute read

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

Shaye learned antibodies from a previous pregnancy caused rare HDFN condition

PostedMay 30, 2021 · 3 minute read

Shaye was forced to become an HDFN expert and advocate while still pregnant and navigating a new diagnosis.

A trip to the doctor for a bad sore throat revealed a rare disease, GLA, affecting her lymphatic system

PostedMay 28, 2021 · 3 minute read

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 repurposed drug helps Michael do the things he loves, while KLA research continues

PostedMay 21, 2021 · 5 minute read

As physicians, it was agonizing for Michael’s parents to watch him suffer from unexplained symptoms, without a diagnosis or path to make everything better.

A coin-sized dent in Sarah’s skull was first sign of GSD, or “vanishing bone disease”

PostedMay 21, 2021 · 3 minute read

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 only affects 200 people in the world.

Cure IBM: Growing research and awareness for the common muscle disease

PostedMay 21, 2021 · 3 minute read

Kevin Dooley founded Cure IBM in 2017 to raise awareness of inclusion body myositis (IBM) and encourage research for an effective treatment and cure.

Parents of daughter taken by GM2: ‘It’s important people know who she was, that she was real’

PostedMay 7, 2021 · 3 minute read

Caitrin lost her daughter to Sandhoff disease, but wants to advance treatments for future patients.

Mandy is the first person in the world found with this variant in the PIK3CA gene

PostedMay 7, 2021 · 3 minute read

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

Love of exercise helps this former bodybuilder cope with rare disease CIDP

PostedMay 7, 2021 · 3 minute read

Mick may have lost some strength to CIDP, but he’s found ways to remain positive amidst a crushing diagnosis.

AllStripes announces collaboration with NIH’s NCATS in rare disease diagnosis

PostedApril 20, 2021 · 2 minute read

The studies will leverage AllStripes’ real-world evidence platform.

4 ways patients with inclusion body myositis can contribute to research

PostedApril 20, 2021 · 4 minute read

May is Myositis Awareness Month! Myositis is an umbrella condition consisting of five rare subtypes, including inclusion body myositis (IBM).

Having a child with a rare disease changed how this teacher connects with her students

PostedApril 30, 2021 · 2 minute read

Doctors initially thought Danielle’s son had cerebral palsy, but he was eventually diagnosed with the rare disease Lesch-Nyhan after genetic testing.

GM2 mom wants Irish Americans to know their Tay-Sachs risk

PostedApril 22, 2021 · 3 minute read

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

12 rare disease podcasts we love that are still making new episodes

PostedApril 23, 2021 · 4 minute read

We’ve rounded up some of the rare disease podcasts we love that are still creating new and upcoming episodes.

Tips for preparing for a doctor’s appointment when you have a rare condition

PostedApril 9, 2021 · 4 minute read

Preparing for doctor’s appointments is not typically an easy feat for people impacted by rare disease. Five AllStripes ambassadors shared their top tips.

These partners on and off the dance floor are pushing for PSP research together

PostedApril 8, 2021 · 3 minute read

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

She couldn’t find a single video of a woman in a wheelchair dancing at her wedding, so Deborah made one herself

PostedApril 1, 2021 · 3 minute read

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

Rare diseases and autism spectrum disorder: what you should know

PostedApril 1, 2021 · 2 minute read

Autism is a behavioral diagnosis, so it’s possible for individuals with rare single-gene disorders to receive an autism diagnosis on top of their rare disease diagnosis.

Al’s love for Prince and Phish helped him face rare GM2: ‘Surrender to the flow’

PostedMarch 26, 2021 · 2 minute read

In the span of a month, Al was diagnosed with late-onset Tay-Sachs disease and his fiancée broke off their engagement. Coping with his diagnosis and the loss of his partner, Al fell into a major depression: “Having this diagnosis on top of a break up was very difficult.”

One child’s rare CCM3 diagnosis led to discovery for 3 more family members

PostedMarch 26, 2021 · 3 minute read

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

What is newborn screening and why is it important?

PostedMarch 19, 2021 · 5 minute read

Millions of babies undergo newborn screening using a few drops of blood from their heel to test for certain genetic, hormonal, functional and metabolic disorders, many of which are considered rare diseases.

Victor has 2 rare PROS conditions, but ‘loves life more than anybody in this world’

PostedMarch 19, 2021 · 3 minute read

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 says GLA diagnosis tested friendships, led to passion for advocacy

PostedMarch 19, 2021 · 3 minute read

Leeya describes her rare condition, generalized lymphatic anomaly (GLA), as a disease that causes her lymphatic system to attack her body and erode her bones from the inside out.

Rare PSP diagnosis led to ‘tangled web of emotions’ for family

PostedMarch 11, 2021 · 4 minute read

Larry’s wife Rachel was diagnosed with progressive supranuclear palsy after a series of symptoms that had caused confusion, and some tension, in the family.

IBM patient says his body has changed, but his spirit is still the same

PostedMarch 11, 2021 · 3 minute read

In 2019, Manuel was diagnosed with inclusion body myositis (IBM), a rare, inflammatory, degenerative muscle disease. He describes his symptoms as insidious.

SURF1 Leigh syndrome father is determined to see a treatment for his son

PostedMarch 11, 2021 · 2 minute read

One year. That’s how long Stephan and his wife waited to receive whole exome sequencing results for their son, Ben.

Kleefstra syndrome dad shares the challenges, and joys, of ‘24/7’ new reality

PostedMarch 5, 2021 · 4 minute read

Matt wants to see ‘every single family who has Kleefstra enroll’ in AllStripes to work towards a cure for their community.

‘Golden Children’ with the rare condition CN1 need sunlight to stay alive

PostedMarch 5, 2021 · 4 minute read

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.

13 ‘Rare Disease Truths’ that will change your perspective

PostedFebruary 25, 2021 · 4 minute read

Throughout the month of February, rare disease patients, caregivers, family members and friends, have been sharing what it’s really like being part of the rare disease community using the hashtag #RareDiseaseTruth.

CCM3 patient has 100 lesions on his brain, but has created mental and physical balance

PostedFebruary 25, 2021 · 4 minute read

When Charles was in his early 30s he developed a twitch in his arm. His doctor ordered a CT scan, which showed Charles had a cerebral cavernous malformation, or a lesion on his brain made of abnormal blood vessels.

Doctors said autism, but Yohanna’s persistence led to SLC6A1 diagnosis for her son

PostedFebruary 19, 2021 · 3 minute read

Yohanna’s son, Xander, was finally diagnosed with a rare condition known as SLC6A1 when he was two. Her message to parents searching for a diagnosis: “Keep looking, keep working and keep fighting”

After seizures and surgeries, this CCM3 syndrome patient had to ‘reboot’ her brain and relearn everyday skills

PostedFebruary 19, 2021 · 7 minute read

At the age of 25, Kristen discovered that the condition she struggled with since childhood had been misdiagnosed, resulting in unnecessary surgeries. In her own words, Kristen shares her CCM3 syndrome journey.

AllStripes expands rare disease research programs to United Kingdom

PostedFebruary 12, 2021 · 1 minute read

Rare patients and caregivers in the U.K. can now participate in AllStripes research towards new treatments.

As a female CLOVES patient, Lindsey fought for her pain to be taken seriously

PostedFebruary 12, 2021 · 3 minute read

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

Stephen started a Facebook support group to bring positivity to the myasthenia gravis community

PostedFebruary 12, 2021 · 2 minute read

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

When the children become the caregivers: VCP disease forced Brandon’s family to suddenly flip roles

PostedFebruary 12, 2021 · 4 minute read

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.

This CIDP patient had to choose: Take a harsh medication or risk being bed bound?

PostedFebruary 5, 2021 · 3 minute read

Sherman has CIDP, a rare disease that attacks the peripheral nervous system. He advises fellow rare disease patients to find their support system early.

VCP disease patient on balancing mental health: ‘I have more hope now than I ever did before’

PostedFebruary 5, 2021 · 3 minute read

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, and see better days ahead

PostedJanuary 28, 2021 · 3 minute read

Lindsay was born with an overgrown leg and foot as well as disfigured toes. At the time, her doctor thought she was just suffering from harmless swelling, but it turned out to be a rare overgrowth disorder.

Not all disabilities are visible: ‘I would gladly trade my disability plate for a cure’

PostedJanuary 22, 2021 · 4 minute read

John was diagnosed with late-onset Tay-Sachs, a type of GM2 Gangliosidosis disease. He is raising awareness about the condition, while he continues to pursue his passions.

Whole exome sequencing gave this family a diagnosis that changed their whole perspective

PostedJanuary 22, 2021 · 3 minute read

When McKenzie’s daughter, Mia, was diagnosed with SURF1 Leigh syndrome, McKenzie blamed herself for it. “Because it’s inherited,” she explains, “you get that feeling that you contributed in some way.”

After 40 years of questions, these siblings finally got an answer

PostedJanuary 15, 2021 · 4 minute read

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

Tim’s rare disease journal is helping thousands of people find hope

PostedJanuary 14, 2021 · 3 minute read

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 imagined what ended up happening next.

It looked like intense college stress, but turned into a mother’s quest for answers

PostedJanuary 14, 2021 · 4 minute read

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.

Tay-Sachs disease patient wants people with rare diseases to be treated like everyone else

PostedJanuary 6, 2021 · 2 minute read

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.

AllStripes collaborating with Taysha Gene Therapies for SURF1-associated Leigh syndrome program

PostedJanuary 4, 2021 · 3 minute read

Taysha will leverage AllStripes’ technology platform to support development of TSHA-104, a gene therapy for SURF1-associated Leigh syndrome.

AllStripes 2020 year in review

PostedDecember 30, 2020 · 1 minute read

View highlights from our research programs, community and team in 2020.

10 things you should know about Wilson disease

PostedDecember 9, 2020 · 4 minute read

Learn more about the causes, symptoms and treatments available for Wilson disease, a rare condition that causes free copper to build up in the liver.

When her son was diagnosed with rare SURF1 deficiency, Kasey joined forces with other parents

PostedDecember 4, 2020 · 3 minute read

Ever since her son, Will, was diagnosed with SURF1 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’: Dealing with rare Wilson disease, Jareb developed an entrepreneurial spirit

PostedNovember 23, 2020 · 3 minute read

Jareb began experiencing symptoms of Wilson disease when he was a preteen. He uses diet and medication to manage his condition, and has forged a career as a dedicated worker.

To honor her sons’ legacies, this rare disease mom dedicated her life to helping others

PostedNovember 23, 2020 · 3 minute read

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.

AllStripes partners with Cambridge Rare Disease Network for ‘RAREfest20’ virtual festival

PostedNovember 13, 2020 · 2 minute read

AllStripes’ co-founder Onno Faber is a featured speaker at the festival, a free virtual event open to anyone interested in rare disease.

Rare disease cost Leah more than her health: “I’ve lost a lot of friendships”

UpdatedOctober 30, 2020 · 3 minute read

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

Ensuring High-Quality Data for Rare Disease Research

UpdatedOctober 23, 2020 · 3 minute read

Once AllStripes collects your medical records, how do we use them for research? One important step is verifying the completeness and depth of the data from each participant.

An NF2 mother finds a platform on the forefront of rare disease research

UpdatedOctober 13, 2020 · 3 minute read

After Lisa’s daughter, Jessica, was officially diagnosed with NF2, she knew she would have to be her biggest fighter. Joining AllStripes was Lisa’s way to take control and make an impact for NF2 research.

A PSP Wish List: Common Items a PSP Patient/Caregiver Might Need

UpdatedOctober 9, 2020 · 3 minute read

Gradually, PSP patients can have trouble completing everyday activities. Here’s a compiled list of items that PSP community members have shared.

It’s official, RDMD has a new name: AllStripes

UpdatedSeptember 15, 2020 · 2 minute read

Today, we revealed our new look, logo and name to the world: RDMD is now AllStripes Research!

A mom fights for answers after losing two of her children to a rare disease, just months apart

UpdatedSeptember 4, 2020 · 3 minute read

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

A father of a son living with cystinosis reminds us he is “not raising a rare disease” but “raising a human”

UpdatedAugust 28, 2020 · 4 minute read

Clinton is determined to make noise and be heard for his son’s rare genetic disease: cystinosis.

With no cure for her son’s rare disease, this mom decided it was time to “fight like a mother”

UpdatedAugust 14, 2020 · 3 minute read

Kim is “fighting like a mother” for a rare genetic disease that is so rare, it doesn’t yet have a name and is referred only by the gene it’s on.

Raising Awareness for Rare: One Day at a Time

UpdatedMarch 26, 2021 · 4 minute read

Awareness days, weeks or even months are opportunities to raise awareness, rally a community and raise funding to advance the mission of nonprofit organizations that serve patients living with a rare disease and their families.

They took a gamble to save their son’s hearing from a rare disease

UpdatedJuly 24, 2020 · 4 minute read

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.

Randy lost his job because of his rare disease, but found a new purpose in the process

UpdatedJune 25, 2020 · 3 minute read

Randy won’t let inclusion body myositis (IBM), a disease that is causing the degeneration of his muscles, reduce his life.

A mother’s ‘special connection’ with her daughter who’s experienced seizures since infancy

UpdatedJune 18, 2020 · 3 minute read

Nicole’s daughter Olivia is living with a rare disease, CDKL5, that often requires children to take three or more medications to manage frequent seizures.

Children’s Tumor Foundation: ‘It is time for patients to gain more power over their health’

UpdatedJune 5, 2020 · 3 minute read

Each month, we spotlight one of our inspiring foundation partners dedicated to pushing forward progress for their communities.

A PSP patient faces his rare-disease reality: ‘There really isn’t anyone else who understands’

UpdatedJune 4, 2020 · 2 minute read

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

Parents raise $3 million to jumpstart research on daughter’s rare disease, GM1

UpdatedMay 28, 2020 · 4 minute read

Douglas and Christine forged their own path to find answers for their daughter when she was diagnosed with the rare disease GM1.

PSP patient creates legacy of hope by contributing his brain and medical records to research

UpdatedMay 14, 2020 · 3 minute read

Mary and Jerry’s lives were forever changed when Jerry was diagnosed with the rare disease PSP. He made generous choices to try to ensure future PSP patients and caregivers don’t go through what they did.

Partner Spotlight: How Myositis Support and Understanding Association adapts and stays nimble

UpdatedMay 8, 2020 · 3 minute read

Myositis Support and Understanding Association provides patients and caregivers platforms, programs and resources they need to thrive while living with a chronic and debilitating rare disease.

Growing up rare: Hannah’s diagnosis was kept quiet as a child, affecting her mental health

UpdatedApril 30, 2020 · 3 minute read

Hannah’s family was secretive about her condition and didn’t tell her all the ways it was affecting her health. As an adult she advocates for patients and mental health support.

How rare disease patients and families are adapting to new COVID-19 restrictions

UpdatedApril 23, 2020 · 4 minute read

People affected by chronic and rare conditions already know what it’s like to make big adjustments for health reasons, so they have a unique perspective during the challenges of COVID-19.

A message to our community - AllStripes raises $14 million to advance drug development for rare diseases

UpdatedApril 16, 2020 · 1 minute read

Today, the AllStripes team is thrilled to announce we’ve raised $14 million in Series A financing.

Press Release - AllStripes secures $14 million in Series A financing and announces partnership with UCB in rare neurodegenerative disease

UpdatedApril 16, 2020 · 5 minute read

SAN FRANCISCO, April 16, 2020 -- AllStripes, a healthcare technology company dedicated to accelerating drug research for patients with rare diseases, today announced that it has raised $14 million in Series A financing.

9 ways to stay connected to seniors and immunocompromised friends during COVID-19 social distancing

UpdatedMarch 26, 2020 · 3 minute read

Human connection is critical to all our mental health during this time. Here are a few creative ways to remind your friends and family you care.

How can rare disease patients and caregivers prepare for coronavirus and a strained healthcare system?

UpdatedMarch 12, 2020 · 5 minute read

People who are already managing existing health conditions may need to take some extra precautions and make plans to keep their care consistent.

The personal stories that motivate the AllStripes team to fight for rare disease families

UpdatedFebruary 19, 2021 · 5 minute read

In honor of Rare Disease Day, we’re sharing a behind-the-scenes look at what inspires AllStripes staff members to push for advancements in rare disease research.

What is a patient registry, and how is AllStripes different?

UpdatedFebruary 20, 2020 · 4 minute read

Patient registries can be an important tool to centralize information about a rare disease community. AllStripes is a research platform that can complement registry efforts by providing the audit-trailed and research-ready data needed to push research forward.

Shining a light on the self-destructive ways some caregivers cope with unending stress

UpdatedFebruary 13, 2020 · 4 minute read

Emily was so consumed with caring for her son, who has a rare disease called Hunter syndrome, that she neglected her own well-being and faced grave consequences.

Doctors thought Mindy had leukemia, but her nosebleeds were a sign of something far more rare

UpdatedJanuary 30, 2020 · 3 minute read

Mindy has been a little warrior since day one. She, and her family, are managing a rare condition called ITP that could be life-threatening, or could resolve itself in time.

There’s a new superhero in town fighting for a better world for rare disease patients

UpdatedJanuary 22, 2020 · 3 minute read

Rhonda created Myositis Warrior as a fresh way to raise awareness for inclusion-body myositis, known as IBM, and other rare diseases.

‘Your choices are going to dramatically affect your child’s life’ – Parents of kids with rare diseases have to make big decisions with little information

UpdatedJanuary 9, 2020 · 3 minute read

Thaddeus, 6, has a rare disease called NF1. His parents have to manage his care with the limited knowledge available about the disease.

Every bruise could be deadly for this adventure-lover with a rare disease called ITP

UpdatedDecember 12, 2019 · 3 minute read

Fred has tried medications, platelet transfusions and surgery, but won’t let his condition keep him from the most important life experiences.

What is a natural history study and why is it important in rare disease research?

UpdatedNovember 14, 2019 · 4 minute read

For rare diseases, it’s critical to learn more about a condition before effective trials can be developed. That’s where a “natural history study” comes in.

Daughter stumbles on her father’s rare disease diagnosis while studying PSP in class

UpdatedOctober 10, 2019 · 3 minute read

Dayna’s studies as a speech pathologist helped her push for a diagnosis for her father’s neurological condition, and gave him a voice as the disease progressed.

Why is drug development for rare diseases so challenging?

UpdatedSeptember 26, 2019 · 5 minute read

Drug development for any disease is a complex, expensive and slow process. Layer on top of that developing drugs for a condition that impacts a limited population, and we as a rare-disease community are up against some unique challenges.

A mother with CIDP fights for answers after doctors turn their backs

UpdatedSeptember 12, 2019 · 3 minute read

Carrie Szeles was told many times “you’re crazy” for thinking something was seriously wrong with her health. Now, she’s often told she doesn’t “look sick.” Through it all, she had to learn to be her own advocate and strongest supporter.

Finding joyful moments and community when facing a devastating Sanfilippo diagnosis

UpdatedAugust 8, 2019 · 3 minute read

Elise Drake-Esposito was just weeks away from giving birth to her second daughter when she learned her five-year-old, Keira, had a rare, fatal genetic condition.

Mom of 7-year-old with rare Hunter syndrome is fighting for generations of her family

UpdatedJuly 18, 2019 · 3 minute read

Ashly Wiebelt built her career as a speech therapist helping children with special needs. Now, she’s advocating for her own child with special needs, and fighting for his life.

What is a research consent and how does it help put you in control of your information?

PostedMarch 4, 2019 · 2 minute read

by Kristina Cotter, PhD, CGC

A research consent is designed to protect patients from participating in research they don’t understand or agree to. In our research consent, we describe what AllStripes Research is and tell you about any associated benefits or risks. We set up our research this way because we think it’s important to get your permission before we do any research using your information.

AllStripes Ambassador Program

UpdatedSeptember 25, 2020 · 2 minute read

Learn more about the AllStripes Ambassador Program and how to get involved.

How AllStripes keeps your data private and secure

UpdatedApril 23, 2019 · 4 minute read

by Talea Miller

You may have questions about how AllStripes keeps your health information safe and secure—many other patients have reached out about this very thing. We take security and data privacy very seriously—in fact, it’s one of our top priorities. We created a summary below to help you understand our privacy and security efforts. We work alongside experts in data privacy and security to ensure that the proper controls are in place for the data you trust us with. We know how sensitive your health information is and how big a deal unauthorized access would be. Please feel free to reach out to us about anything relating to data privacy and security. Below we explain in more detail how we keep your data safe.