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Rare Disease Day: Understanding the power of diagnosis and connection

Rare Disease Day, typically observed on February 28th, will be celebrated this year on February 29th! Rare Disease Day is an awareness holiday intended to generate change for the 300 million people who are diagnosed with a rare disease worldwide, as well as their families and caregivers.

In the United States, a disease is classified as rare if it affects fewer than 200,000 individuals. Because of this, overall awareness of these conditions can be low, as some conditions may only have a few reported cases and many lack a disease organization or support group. For many, even receiving a diagnosis can be difficult — on average, it takes nearly 5 years for a rare disease patient to get an accurate name for their condition.

In honor of Rare Disease Day, we interviewed Romina Ortiz, Chief Operating Officer and VP of Patient Advocacy at Rare Genomics Institute. This nonprofit organization gives rare disease patients access to pro-bono genetic sequencing and research. We discussed the power of receiving a diagnosis for rare disease patients and the value of allowing patients to connect, too. Read the interview below.

The power of patient connection on Rare Disease Day

Why is it important for rare disease patients in particular to get involved in research?

It’s important because the word “rare” makes people think it’s not as high of an impact to society. At the same time, rare disease patients tend to feel isolated and alone. In reality, there are more patients with rare diseases than patients with HIV, stroke, and heart disease combined. It is a large number of patients that are affected. In order to really take hold of what’s happening and push research and medicine forward, I think patients have realized that they need to get involved with research. They need to get connected, whether it’s with someone in the lab, or a geneticist, or even other families and patients with that same mutation.

Tell me about the families that come to your organization. Do they have a way to meet others with their diagnosis?

Most of the time, they’re still looking for a diagnosis. They’re going from doctor to doctor, getting countless tests, trying to get answers. There are many ways that families get help. We have an online platform called RareShare, where if you have a diagnosed rare disease, you can join and be a part of that specific community and connect with other families. Knowing there’s another family with a child that’s affected, families can talk and share recommendations for specialists they’ve seen. That’s been really helpful.

Success comes in different forms for different patients. If we don’t have an answer today, we might have one in a month, or a couple of months, or next year. Our data is constantly being updated in the databases that we use.

Do you have a personal favorite success story?

One family in particular, the child suffered from an undiagnosed muscular disease for at least four years. He had difficulty speaking, swallowing, and breathing, he was always tired. The mom came to us, and we connected them with a lab that was able to do whole exome sequencing for them for free. At that time, it was more expensive and the family couldn’t afford it. So with the exome sequencing that was done, they found that he had a rare disease neurological disease called Congenital Myasthenic Syndrome (CMS). It affects one in every 500,000 people.

The thing about CMS is that it has 12 different subtypes marked by genetics. With the exome sequencing, not only was he diagnosed with CMS, but we were able to pinpoint the exact subtype of CMS that he had. It turned out that he had one of the rarest subtypes of CMS. There are only 12 reported cases in the whole world with that specific subtype. With that exact diagnosis, the family was able to visit a specialist at Mayo Clinic. This specialist was one of the people who discovered these subtypes of CMS. They went over the results together and learned there were 5 drugs available at the time to treat the different symptoms of CMS. But the problem was that some medications were effective for some subtypes, but others could actually harm certain subtypes. So knowing his subtype helped pinpoint a drug that worked for him that wouldn’t harm him. He was able to start the treatment, and now he basically lives like a normal kid.

Why is it important to receive a diagnosis if you’re living with a rare disease, even if there aren’t existing treatments?

I mentioned that there are different views of success. I think for the families, at least knowing that there’s something — even if it’s not a diagnosis, to say it’s a “mutation here,” on this gene — I think that gives the families hope and understanding that this is real. They’re not crazy. I’ve had moms tell me, “I constantly feel like I’m crazy, like I’m making things up, like doctors don’t believe me.” They have this feeling that they’re not being supported. They know that there’s something wrong with their child but having the mutation or diagnosis, that gives them a lot of understanding.

If you’d like to learn more about Rare Disease Day, check out our latest podcast episode at the link below!