This year, Rare Disease Day will take place on 29th February instead of its usual date on 28th February. Rare Disease Day is a holiday to raise awareness about rare diseases. It’s aimed at the 300,000,000 people diagnosed with a disease in the world, their families, and caregivers.
In the United States, it is classified as a rare disease if it only affects less than 200,000 individuals. Due to this, there may be a low level of awareness about these conditions since some only have a small number of reported cases, and others lack a disease organization or support group. Even receiving a diagnosis is difficult for many — it can take an average of nearly five years for a patient with a rare condition to obtain an accurate name.
We interviewed Romina Oriz in honor of Rare Disease Day. She is the Chief Operating Officer at Rare Genomics Institute and Vice President of Patient Advocacy. This nonprofit gives rare disease sufferers access to free genetic sequencing and research. We talked about the importance of getting a diagnosis and connecting with patients who have rare diseases. Below is the full interview.
Why should patients with rare diseases, in particular, be involved in research?
The word “rare” can make people believe that it has a lower impact on society. Rare disease patients often feel alone and isolated. There are actually more rare disease patients than there are HIV, heart disease, stroke, and other diseases combined. There are many patients affected. Patients have now realized the importance of getting involved in research to help advance research and medicine. It’s important to connect, whether with a lab worker, a geneticist, or other families or patients who have the same mutation.
Tell me about your family. Are they able to connect with others who have the same diagnosis?
They’re usually still trying to find a diagnosis. They go from doctor to physician, have countless tests, and are still looking for answers. Families can get assistance in many different ways. Our online platform, RareShare, allows you to connect with other families if you are diagnosed with a rare disease. Families can share their experiences and recommendations with other families who have a child affected by the same disease. This has been very helpful.
Success comes in different forms for different patients. We may have an answer in a few months or even next year if we don’t know it today. The databases we use are constantly updated with our data.
What is your favorite personal success story?
A child in one family suffered for four years from an undiagnosed muscle disease. He was constantly tired and had trouble breathing, swallowing, and speaking. We connected the mom with a lab that was able to do free whole exome sequences for her. The family could not afford the cost at that time. The exome sequencing revealed that he was suffering from a rare neurological disorder called Congenital myasthenic syndrome (CMS). One in every 500,000 individuals is affected.
CMS has 12 subtypes that are genetically marked. We were able, through the exome sequence, to diagnose him with CMS and pinpoint his exact subtype. He had one of CMS’s rarest subtypes. Only 12 cases of this specific subtype have been reported in the world. The family could visit a Mayo Clinic specialist with this exact diagnosis. The specialist who discovered these subtypes was also a Mayo Clinic specialist. Together, they went through the results and found that there were five drugs available to treat different CMS symptoms at the time. The problem was that some medications worked for certain subtypes but could harm others. Knowing his subtype allowed him to find a medication that would work for him and not hurt him. He started the treatment and is now living a normal life.
Why does it matter to get a diagnosis even if treatment is not available?
I said that there are many different perspectives on success. I think knowing there is something, even if it is not a diagnosis — to say, it’s “a mutation here” on this gene — gives families hope and an understanding that it’s real. They are not crazy. Moms have told me: “I feel like I am crazy all the time, that I make things up and doctors don’t trust me.” They feel that they are not supported. They are aware that something is wrong with their child, but the diagnosis or mutation gives them more understanding.