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For people suffering with an undiagnosed disease, data holds the key to ending years of uncertainty.
The challenge is getting to it.
On Rare Disease Day 2021, we celebrate the data that makes the difference in reaching a diagnosis
At that moment I realized, not everybody lives in pain … I thought that was just normal.
Marlee
21 years to an EDS with Vascular Compression diagnosis
Data that made the difference
Despite having only heard of EDS in medical school, Marlee’s rheumatologist suspected it could be behind her symptoms. Marlee was quickly referred to a cardiologist who followed a rigorous protocol for EDS. This included a test that helped reveal pelvic compression syndrome, a condition that was the source of some of her most painful symptoms.
It was like a light switch went off. It gave me hope for the first time in a long time … knowing that I could go forward with this
Danielle
20 years to an Addison's Disease diagnosis
Data that made the difference
In multiple trips to the ER, Danielle heard a variety of possibilities that could be the cause of her symptoms—from GERD to anorexia, even hypochondria. It wasn’t until an endocrinologist in the same room overheard one of these discussions and suggested Addison’s—a condition obscured by the fact that Danielle is bi-racial, but confirmed by a cortisol test.
I finally had validation … I’m not a hypochondriac … not just someone who’s clumsy
Jaclynn
15 years to an Ehlers-Danlos Syndrome (EDS) diagnosis
Data that made the difference
A trip to Mayo Clinic and a visit to a geneticist led to a diagnosis of EDS at age 13. But it would be another 13 years before Jaclynn would learn of the rare disease that led to 8 surgeries on her joints from the ages of 11 to 16. Her mother, concerned about the potential stigma of the diagnosis, chose to keep it from Jaclynn—a decision intended to protect her that resulted in years of uncertainty and pain.
I cried. I cried and was really disappointed. I try not to let it get to me ... try to not let it control my life.
Lauren
3 years to a lupus diagnosis
Data that made the difference
Lauren’s initial diagnosis of rheumatoid arthritis (RA) made sense given the pain and swelling in her hands, knees, and back. But when the medication didn’t help, and she developed unexplained rashes on her face, Lauren questioned the diagnosis. A new rheumatologist shared her suspicions and suggested additional tests—including an antibody test that provided the definitive lupus diagnosis.
It’s a huge relief. It means I’m not making it up. I’m not faking it … not drug seeking. I can cut myself a lot of slack.
Zach
34 years to a Common Variable Immunodeficiency (CVID) diagnosis
Data that made the difference
Reduced protein levels in a blood test offered answers that eluded Zach for 30 years. The doctor who noticed Zach's low protein levels connected the dots. She recognized that his asthma and chronic bronchitis weren’t about allergies or him being a “sickly kid.” They were the result of an immune deficiency—a condition typically diagnosed in childhood, but not identified in Zach for 3 decades.
I felt relieved and validated with my symptoms—I wasn’t crazy, it wasn’t just my Crohn’s.
Stephanie
10 years to a Median Arcuate Ligament Syndrome (MALS) diagnosis
Data that made the difference
For 10 years, Stephanie suffered with intense pain and nausea—symptoms her doctors attributed to Crohn’s disease. That changed in 2019 when she found a specialist determined to get to the bottom of her symptoms—to look beyond Crohn’s. Her persistence paid off when the doctor investigated MALS, a condition that can mimic symptoms of Crohn’s, but requires a very different diagnostic approach.
For the first time in my life someone believed that I was in pain … that there were actual things going on in my body.
Melinda
41 years to an EDS with Vascular Compression diagnosis
Data that made the difference
For most of her life, Melinda believed that she was simply a klutz—prone to injuries. She was used to being told her symptoms were “all in her head.” That all changed when a geneticist diagnosed her daughter with Ehlers-Danlos Syndrome. Melinda started getting questions she'd never been asked before. After decades of frustration, it became clear she wasn’t a klutz; she had EDS too.
Ignorance is bliss, but I’m glad I know that this is what I have … it’s sucky but we find different ways to have fun, and I can watch my kids.
Julie
31 years to a Chiari Malformation diagnosis
Data that made the difference
A cousin who recognized the distinct pain of headaches caused by a Chiari Malformation was the key to Julie getting the diagnosis that had eluded her since age 6. For years, her debilitating migraines were attributed to epilepsy, and not linked to Chiari, a condition affecting the brain stem. Julie’s diagnosis was confirmed by an MRI with results that were almost identical to her cousin’s.
It was nice to finally have something that made sense—I always just thought I was clumsy.
Alice
8 years to a Hypermobile Ehlers-Danlos Syndrome diagnosis (hEDS)
Data that made the difference
Alice’s younger sister was the first to raise the possibility of EDS. She noticed the softness and fragility of her skin. Alice brushed it off, not seeing any correlation with her chronic joint injuries. When her sister was diagnosed with EDS, the genetic link to the disease was confirmed. All that was left was a series of visual assessments to finalize Alice’s diagnosis of Hypermobile EDS.
As you're going through all of this, people are looking at you like you’re a hypochondriac, but in your head, you know that you’re not.
Cynthia
3 years to a Myasthenia Gravis, Paraneoplastic Neuropathy (MG) diagnosis
Data that made the difference
In her search for a diagnosis, Cynthia heard all kinds of possibilities for the symptoms she was enduring—a cracked rib, lung cancer, thoracic outlet syndrome, even fibromyalgia. While a muscle response test for MG didn’t align with diagnostic standards, there was one specialist who persevered and worked with her to get more answers—including the AChR test that ultimately provided the definitive diagnosis.
Getting the definitive diagnosis was incredibly helpful because it’s a genetic disorder, and that really impacts so much more than just him.
Orah (Caregiver for her son Brian)
3.5 years to a Fragile X Syndrome diagnosis
Data that made the difference
When Orah’s son Brian was 18 months old, she and her family noticed some developmental issues. Initially, they were told Brian “was fine, that he’ll catch up.” A subsequent evaluation with a neurologist led to a diagnosis of minimal brain function. After additional appointments, assessments, and evaluations, Orah and her family opted for the in-depth genetic test that identified Brian’s Fragile X Syndrome.
I was glad to know what it was, but when I researched it, I didn't want to have it.
Sherill
21 years to an Ehlers Danlos Syndrome (EDS) diagnosis
Data that made the difference
A 3 a.m. visit by a neurologist in her hospital room was the turning point for Sherril. Having seen ENT specialists, allergists, cardiologists, and psychiatrists, the neurologist suggested she try a different drug. Within hours, not only had she regained some of her hearing and the ability to walk and talk, she finally had a name for the disease that had had dominated her life over the last 3 years.
After a decade of having no answer … being told to suck it up, I had proof that something was very wrong inside me.
Courtney
12 years to a hereditary angiodema diagnosis (HAE)
Data that made the difference
Courtney's gastrointestinal issues started when she was 20. None of the 5 Gastroenterologists she saw could pinpoint a cause. Over time, her symptoms worsened—including abdominal swelling so bad it made her appear pregnant. At 32, swelling in her throat led an immunologist to try a different blood test that revealed HAE, a disease with symptoms that can mimic allergic reactions and GI issues.
I felt relieved—I finally knew what was wrong with me and had a plan for treatment.
Leah
Less than a year to a myasthenia gravis diagnosis
Data that made the difference
Leah’s symptoms first appeared 13 years ago. Initially, her symptoms were random and varied. Within several months they had grown worse, leaving her struggling with chewing, walking, and even holding her head up. When her primary care physician saw her drooping face, he immediately referred her to a neurologist. Her bloodwork led to a clear and definitive diagnosis of MG.
The biggest hurdle was getting doctors to believe that something was actually wrong with me and that it wasn't just anxiety.
Richard
2 years to a diagnosis of Postural Orthostatic Tachycardia Syndrome (POTS)
Data that made the difference
Richard spent two years fearing the worst about his symptoms. They seemed to be heart-related, but with each ER visit, test results were inconclusive. When he was given valium, his symptoms would improve, so his symptoms were attributed to anxiety. It wasn’t until a cardiologist suggested a “last resort” tilt table test which revealed a diagnosis of a form of dysautonomia called POTS.
Completely life-changing. I needed everyone in my life to understand that I hadn’t let them down because I didn’t care. I did it because I was legitimately tired.
Rachael
Multiple years and doctors to a diagnosis of narcolepsy
Data that made the difference
For years, Rachael experienced excessive daytime sleepiness and forgetfulness. After years of hearing “some people just need more sleep,” one doctor assured her that she was too healthy to be so tired. He mentioned narcolepsy, a condition her father had recently heard about on TV. A sleep latency test confirmed the diagnosis, ending years of doubt and frustration for Rachael.
I was lucky that my OB-GYN recognized my condition; other women have been told it’s all in their head.
Jessica
Weeks to a diagnosis of hyperemesis gravidarum
Data that made the difference
Early in Jessica’s pregnancy, she thought she was just suffering from morning sickness. She thought it was just what all other pregnant women have to deal with. But the constant vomiting and inability to keep anything down raised a flag with her OB-GYN, who immediately recognized the rare condition and was able to begin treatment right away.
It helps so much to have a diagnosis so that you can educate yourself about what the future will hold. But I also knew that our lives were changed forever.
Erin
2 years to a diagnosis of Perthes disease for her son
Data that made the difference
Erin’s son was 7 when he suddenly began experiencing pain in his leg and knee. Their pediatrician sent them for x-rays and then on to meet with an orthopedic surgeon. As they waited for a diagnosis, Erin began researching on her own—combing the internet in search of answers. The more she read and learned, she began to suspect Perthes disease, a theory that was ultimately confirmed by a specialist.
I felt relieved to finally have a name that accounted for all the painful symptoms I was experiencing.
Carrie
10 years to diagnosis of ankylosing spondylitis (AS)
Data that made the difference
Doctors initially told Carrie she was too young to be experiencing the kind of back and joint pain she was describing. But there were days she couldn’t lift her arm or put weight on her foot because of it. One morning she woke up unable to walk because of the swelling in her knees, so she headed to the ER. They aspirated her knees and did an MRI, and she had her diagnosis of AS two weeks later.
Keep pushing, you are not crazy. You know you better than anyone.
Cathleen
27 years to a diagnosis of sarcoidosis
Data that made the difference
As a teen, Cathleen’s doctors couldn’t explain her chronic fatigue. Decades later, she went to her doctor with a rash on her leg. Something told her it wasn’t just dry skin, so she pressed her doctors for answers. A skin biopsy suggested sarcoidosis and fit Cathleen’s symptoms, but her lung X-ray showed a shadow. After a biopsy ruled out cancer, her doctors knew she’d had sarcoidosis all along.
Don’t settle ... until you’ve seen a specialist and gotten the necessary tests.
Anonymous
2 years to a diagnosis of myasthenia gravis
Data that made the difference
When you know something isn’t right, but others think you’re faking your symptoms, how do you get to a diagnosis? You don’t settle until you get the medical attention you need, even if that takes years. Anonymous advocated for themselves in order to see a specialist who performed a CT scan of their chest, which finally led to a diagnosis of myasthenia gravis.
Don’t let them tell you it’s all in your head. Advocate for you ... You are worthy of the right attention.
Carmen
3 years to a diagnosis of myasthenia gravis
Data that made the difference
Plagued by difficulties with breathing, speaking, and swallowing, Carmen saw several specialists and was misdiagnosed with asthma, depression, and anxiety. When her breathing problems landed her in the ICU, one of her doctors recognized a common thread in her signs and symptoms. He ran a few tests and correctly diagnosed Carmen with myasthenia gravis in a matter of days.
This is hard, and you will face barriers of all kinds. Find others who have been down this path and get guidance.
Effie (Caregiver for her son)
1 year to a diagnosis of CTNNB1 Syndrome
Data that made the difference
Effie struggled to navigate the healthcare system as she searched for an explanation for her son’s muscle spasms and failure to thrive. It would take a year and visits to a slew of specialists to get an answer. A geneticist suspected Effie’s son had a fatal form of albinism and ordered a genetic test, only to discover CTNNB1 Syndrome, currently diagnosed in only about 200 patients worldwide.
Be your advocate! Stay knowledgeable because only you know what's best for your body and how you feel.
Jasmine
Months to a diagnosis of myasthenia gravis
Data that made the difference
When problems with Jasmine’s eyesight prompted her to go to the ER, doctors suspected that she had multiple sclerosis. She underwent a battery of tests, including an MRI, lumbar puncture, CT scan, and bloodwork. Ultimately, it was the CT scan that showed the tumor on Jasmine’s thymus and led to her being diagnosed with myasthenia gravis.
At least now I had a treatment and a reason why I felt like I was dying.
Cheryl
Years to a diagnosis of Addison's disease
Data that made the difference
Despite getting treatment for hypothyroidism, Cheryl’s nausea and fatigue only got worse, and numerous doctor visits didn’t provide any answers. So Cheryl picked a doctor out of the phone book, called, and described her symptoms, including that she had low sodium and tan skin even though it was spring. After years of frustration, she was diagnosed with Addison’s disease that day over the phone.
[My diagnosis] meant I could finally get some help!
Kjersti
12 years to a diagnosis of Ehlers-Danlos syndrome (EDS)
Data that made the difference
Kjersti was an unusually flexible child who bruised easily and had soft, velvet-like skin. Doctors couldn't explain her symptoms. At 19, she dislocated her tailbone and began to experience constant pain. After 12 years, a doctor referred Kjersti to a physical therapist, who unintentionally dislocated her shoulder. He immediately suspected EDS, and a genetic test confirmed the diagnosis.
[My diagnosis] meant everything ... that what I have wasn't imagined, and it gave me a great starting point on my road to recovery.
William
Days to a diagnosis of Guillain-Barré syndrome
Data that made the difference
William considers himself lucky in a way. Although his symptoms were serious enough to cause him to visit the ER, a doctor there decided to start out where many doctors wouldn't—by testing for a rare condition instead of a more common one. And his doctor turned out to be right. Getting a diagnosis of Guillain-Barré syndrome may be difficult, but it provided clarity to William’s treatment journey.
I cried in happiness that there is a treatment available, and I’m living again.
Amie
Decades to a diagnosis of mastocytosis
Data that made the difference
Amie’s symptoms started at 8 years old with a rash on her stomach. Then came more rashes, anxiety, headaches, joint pain, and the accusations that she was a hypochondriac or a liar. Finally, Amie met a doctor who was able to piece together her symptoms. A biopsy confirmed a diagnosis of mastocytosis, and that meant Amie could start getting the help she needed.
The validation of a diagnosis was priceless to my medical treatment!
Lynn
Years to a diagnosis of Ehlers-Danlos syndrome (EDS)
Data that made the difference
Growing up, Lynn was repeatedly told that she lacked focus and was uncoordinated and klutzy. She was prescribed multiple medications, which only made things worse. Her doctors didn't believe she was taking her medications and referred her for a mental health evaluation. After years of research, Lynn discovered EDS. She told her dermatologist, who ordered a blood test and confirmed the diagnosis.
I could finally tell people, 'I have cystic fibrosis.' ... I have a name for my disease and a treatment plan.
Victoria
25 years to a diagnosis of cystic fibrosis
Data that made the difference
To those who knew her, Victoria appeared to be healthy. However, her body was telling her something was very wrong. Because she would get sick multiple times a year, doctors concluded her immune system wasn’t working properly, but they never identified the cause. Until Victoria met an ear, nose, and throat specialist who took a closer look at her case and was able to diagnose cystic fibrosis.
I cried a happy cry. I wasn't crazy after all.
Andrea
11 years to a diagnosis of mitochondrial myopathy
Data that made the difference
Andrea was originally diagnosed with myasthenia gravis in 2005. After 11 years of treatment, her muscle weakness and vision problems were only getting worse, so she kept looking for answers. In 2016, a muscle biopsy showed ragged red fibers, a telltale sign of mitochondrial disease. Further genetic testing revealed that Andrea and her son, who was also showing symptoms, had mitochondrial myopathy.
It was scary...[We] were told I would only live to be 20. Today I am living well with sickle cell at age 37.
Tristan
6 months to a diagnosis of sickle cell disease
Data that made the difference
One evening when Tristan was 6 months old, his mother couldn’t get him to stop crying. She took him to the ER, where he continued to cry in pain all night. The next day, his grandmother came to visit him in the hospital. When she picked him up, she noticed that his arm was badly swollen. A doctor in the room saw it as well and ordered blood work that led to a diagnosis of sickle cell disease the next day.
While we can’t be certain of the future ... it did allow us to connect with other families dealing with the same diagnosis.
Liam
Months to a diagnosis of pachygyria
Data that made the difference
Liam was described as a “late bloomer” until it became clear he was experiencing real developmental delays. A doctor ordered a genetic test, which suggested a developmental condition called pachygyria. An MRI confirmed the diagnosis and enabled Liam’s parents to act quickly, and perhaps even save his life, when he had his first seizure—something they had learned was common in pachygyria.
In the US, a disease is deemed rare if fewer than 200,000 people are affected
Rare diseases affect 1 in 10 people
30+ million people in the US have a rare disease
There are 6,000 known rare diseases
50% of patients affected by rare diseases are children
Only 5% of rare diseases have treatments
Some cancers are considered rare diseases
There are fewer than 400 approved medicines to treat rare diseases
72% of rare diseases are genetic
It takes an average of 7 years to get a rare disease diagnosis
If all people with a rare disease lived in one country, It would be the 3rd most populous country in the world
On average, it takes 7 different doctors to diagnose a rare disease
By 2022, 1 in every $5 spent on pharmaceuticals will be on rare disease treatments
There is definitely a freedom to [having a diagnosis].
It really has to do with hope … nobody wants to wake up and have a thousand problems and not know what’s going on.
I would rather know ... then sometimes you're like yeah forget it, I wish I just never knew, and I could go about my life.
Now that I have it under control, I still don’t accept it, but I go day by day.
Because, for the first time in life I was told that a lot of the problems I had were real—they weren't in my imagination...
So it was a huge change, it just really felt good to know that for the first time in my life I had an answer.
I know a lot of people feel this way when they finally get a diagnosis. You're not crazy. Somebody knows you're not crazy.
I ran down the street screaming 'I TOLD YOU ALL I WAS SICK!'
I am living proof that when a patient says they are in pain, that something is very wrong, that they are suffering despite what you see on the outside— BELIEVE THEM.
It's just like playing detective, and the most seemingly innocent coincidences may actually be screaming the answer in whispers.
This is hard and you will face barriers of all kinds. Find others who have been down this path and get guidance.
Through this diagnosis, my family has been able to form a foundation to fund research and hopefully find a cure.
When I was finally diagnosed, I was able to breathe a sigh of relief. I wasn't crazy. I wasn't broken.
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