For anyone with a rare disease, the winding journey from symptoms to diagnosis to treatment is often long and isolating.
And yet the singularity of that lonely experience — the often-frustrating search for answers and treatment, if there is even treatment available — is surprisingly common for those with a rare disease. On average, it takes five years or more to reach a diagnosis, according to the National Organization for Rare Diseases.
As part of Rare Disease Day, 23andMe wanted to shine a light on Dima, a software test engineer with essential thrombocythemia, a rare blood disorder that includes symptoms like difficulty breathing, weakness, fatigue, and blood clots that can lead to strokes – and is one of the rare diseases 23andMe is studying. His experience echoes that of many people living with one of the more than 7,000 known rare diseases.
A rare disease, by definition, affects 200,000 or fewer people, but because there are so many of these conditions, many millions of people like Dima live with a rare disease. It’s estimated that between one-in-ten to one-in-13 people in the United States have a rare disease. In other words, millions of people, each struggling to sort out how to navigate a journey with few clear markers of where to go next. These are individuals who are often faced with unexplained symptoms that neither they nor their doctor can explain.
“It’s hard to say when my symptoms began,” said Dima.
Waiting for a Diagnosis
For more than six years, Dima had consistently seen elevated platelet levels in his blood tests. On top of that he had other symptoms — nosebleeds, numbness, fatigue, and flashes in his eyes. But his doctor failed to recognize the abnormalities in his blood or to connect them to his other symptoms.
Dima wasn’t diagnosed until 2021 when he was rushed to an emergency room.
“After multiple MRIs, CTs and ultrasounds it was confirmed that I had a transient ischemic attack (stroke) caused by a blood clot,” Dima said. “I underwent an emergency surgery where a blood clot was removed from my carotid artery.”
After several tests, including a genetic test, as well as a bone marrow biopsy, he was diagnosed with essential thrombocythemia, a rare type of myeloproliferative neoplasms (MPN) in which the bone marrow produces too many platelets.
“I’d never heard (essential thrombocythemia) or MPN before I was diagnosed,” he said.
Dima’s experience is not so different from a lot of people with a rare disease. It often takes years for a diagnosis. Even when a proper diagnosis is made, it might be difficult to find effective treatments.
In Dima’s case he is being treated with a drug called an antiviral interferon drug, that has a host of serious side effects, but appears to be helping. He’s also joined an advocacy group called MPN Voice. He knows he is lucky, there are approved treatments for fewer than 5 percent of the known rare diseases. And the fact that they are rare also makes them that much more challenging to study.
Finding enough people with one of these conditions to participate in research is often difficult, and this can be particularly difficult among people of non-European descent who are already underrepresented in research.
Researching Rare Diseases
23andMe has an ongoing effort to improve the diversity of our research more broadly and will regularly contact customers in underrepresented groups through our rare disease research. An example of that is our Sarcoidosis Research Study, a rare condition that impacts the Black community at double the rate of people of European descent.
While each of the rare diseases 23andMe is studying is different, our research model combines genetic and phenotypic data from millions of people who’ve consented to participate in research, offering unique opportunities to study these conditions. It’s not just that understanding the genomics of rare diseases can help scientists understand the underlying causes; it’s that the scale of 23andMe’s data and the fact that people can participate online and from home allows our researchers to quickly gather insights from large numbers of people with a rare disease. In 2021, researchers from 23andMe presented some of their early findings that helped to illustrate our ability to leverage that data to gain insights quickly.
Rare Disease Study
In 2022 23andMe launched a rare disease study, the Rare Disease Research Study, which has grown to include a dozen rare diseases. This work offers an incredible opportunity to speed progress toward treatment. Among the diseases 23andMe is studying is essential thrombocythemia, the condition affecting Dima’s life.
In just four months since launching our Rare Disease Study, 23andMe has already recruited more than 1,500 individuals across all the rare diseases we are researching. That’s incredibly fast for rare disease research, and 23andMe already has some of the largest cohorts for some of these very rare conditions. 23andMe’s study of essential thrombocythemia, the condition Dima is living with, is expected to reach its goal of recruiting 1,000 participants by the fall of 2023.
The work has already been noticed, especially among advocates for those living with rare diseases who are pushing to raise awareness and spur new research.
Dima Answers Some Questions about Living with a Rare Disease
When were you diagnosed, and how long did it take from when you had your first symptoms to get a diagnosis?
I was diagnosed in 2021 at the age of 31. I had symptoms of a stroke and was taken to the emergency department. After multiple MRIs, CTs and ultrasounds it was confirmed that I had a transient ischemic attack (stroke) caused by a blood clot. I underwent an emergency surgery where a blood clot was removed from my carotid artery. After doing a genetic test for JAK2 V617F mutation (which returned positive) and two bone marrow biopsies, I was officially diagnosed with essential thrombocythemia – a rare type of Myeloproliferative neoplasms (MPNs) in which the bone marrow produces too many platelets.
Can you give some sense of what it is like to have something wrong — symptoms — but not know and not having doctors know what it is that is wrong with you?
In my case it was devastating. I had a history of consistently elevated platelets since 2016. My (doctor) failed to recognize the issue, check for underlying conditions and diagnose me. He never referred me to a hematologist. After each routine blood test I was told that my results were normal, even though I saw elevated platelets in results. All complaints about my symptoms were neglected.
I believe the blood clot forming could have been prevented and the surgery could have been avoided if I was diagnosed and started treatment earlier.
I also blame myself for not paying more attention to my blood test results and for blindly trusting doctors. Lesson learned the hard way. Now I do my extensive research before going to doctors for any reason. I do my best to educate myself as much as possible and verify every recommendation I get from doctors.
When you heard the diagnosis, was it something that you were familiar with?
I’d never heard about essential thrombocythemia or myeloproliferative neoplasms before I was diagnosed.
Do you stay up on research?
When I was first diagnosed, I spent a significant amount of time going through available research and collecting information about treatment options. Today I’m trying to stay on top of new research. In addition to that I receive weekly subscription email from the MPN Voice community on https://healthunlocked.com. This community is very active. Multiple people all around the world share their stories, treatment options and side effects, research and studies, news and more importantly support to each other.
Are you involved in any clinical trials?
At this moment I’m not involved in any clinical trials however if opportunity arises, I will be open to it.
What do you believe people should know about rare diseases in general and how they might be able to help?
Of course it would be helpful and beneficial for people to be aware of rare diseases. However, there are so many rare diseases that the general population has never heard about them. I learned about the existence of MPNs only after I was diagnosed with it. People are not trained to analyze symptoms. They might not recognize that their symptoms are a result of some underlying condition and simply brush it off.
That is why we go to doctors when something bothers us. And that’s why I want to have more trust in doctors’ ability to listen to patients, recognize and diagnose them correctly and timely.