Rare diseases are defined as conditions that affect 200,000 people or fewer. But as the saying goes, they are individually rare but collectively common. Thousands of rare diseases have been discovered and the NIH estimates that 25 to 30 million Americans combined are impacted by various “rare” diseases.  

Some 70% of rare diseases present in childhood, and 95% lack approved treatments. This means that parents or caregivers bear much of the burden of navigating the complex world of medical interventions, insurance, and clinical trials. I had the opportunity to sit down with Rachel Vanni, the President and CEO of the Charlie Elenore Foundation (CEF), to discuss the realities of navigating a rare disease diagnosis. Rachel founded the CEF in honor of her daughter, Charlie Elenore Quapp, who was born in 2014 with Glutaric Aciduria Type II, a rare fatty oxidation disorder. While Charlie passed away in 2017, Rachel has made supporting rare disease patients and their families a central part of her career, and her reason for founding the CEF.  

Juliet Preston (CG Life Group Director of Scientific Communications): Can you just tell us a little bit about the Charlie Elenore Foundation? 

Rachel:  At the Charlie Elenore Foundation, our main mission is to provide patients with access to the care they need and the treatments that are out there. That can mean helping patients get access to treatments that are already established and that pose a financial burden or helping them participate in clinical trials by trying to eliminate a lot of the financial challenges that can come with that participation. 

 Juliet: What are some of the challenges that make a rare disease diagnosis particularly difficult, when compared to a more common condition? How is it uniquely challenging? 

 Rachel: There are different ways that it is challenging, and they all kind of run parallel at the same time and feed off of each other.  

First, there’s that emotional component. When you receive a diagnosis, whatever diagnosis, you’re being told there’s something about your child that is not typical. That is a very stressful thing to hear as a parent because you’re like, “Wait, what?” You have this expectation in your mind of how having a new baby is going to be. You have expectations for that whole process of bringing the baby home, having that time together, and not constantly being at the doctor’s office or hospital. And then there’s the fear of, “What does this mean for my child? And their life?” There’s a grief that comes with that, and that grief is very real, especially at the beginning. Then, as you move forward, you learn to adapt, and with that adaption comes its own challenges and griefs. But you start to move forward, and you learn to adapt and just say, “Okay. I accept that this is our normal.” I think that’s a process that everyone goes through in their own timeline due to their own circumstances.  

The other challenge that many people face, and the one that I’m really focused on, is the financial component. Oftentimes, the treatments that are offered for rare diseases aren’t covered through insurance, or families have a lot of challenges with getting things covered. That can be for medication, but also other things like physical or occupational therapy, equipment, or non-medication supplements or foods. For example, many rare disease patients are prescribed supplements that are not covered by insurance. In our case, we needed a different highchair because Charlie had low tone and couldn’t hold her neck up, so we needed one that had a big neck support. And then accessing care: traveling, gas money, parking expenses, cafeteria food. So, there are all these different financial components that really limit a patient’s access to care, especially the more auxiliary costs that people don’t really consider. 

Juliet: It’s really zero to 100, isn’t it? All of a sudden, you’ve got to become an expert at navigating doctors, insurance, and everything else. I can see how it would be helpful to have people who can help guide families or help them advocate for themselves. 

Rachel:  Definitely. I think most larger hospital systems have social workers who are on staff who can help navigate access to resources. Not all of them, but some. But a lot of people don’t even know they have the ability to ask for that. So that’s another challenge too: understanding. Understanding what resources are available through your hospital and what you might be able to get from that. Or knowing that specific programs within the local community may not cater to a rare disease population, but you could possibly get an exception based on another diagnosis.

Juliet: For the majority of rare diseases, there are no FDA-approved treatments. How do you go about researching and finding other ways to access therapy? What kind of alternative channels are there?
 

Rachel: I found that it’s a combination of a couple of things. If the family is interested in a clinical trial, there are several databases and resources defined where they can search to see if there’s a trial for a particular disorder. The National Organization for Rare Disorders (NORD) has a database where you can literally just type in the disease state, whatever you’re interested in or looking at, and they give you a result.
But there’s also the situation where you know there’s a treatment out there, and it’s not FDA-approved. It really boils down to the specialist’s ability to write a single patient Investigational New Drug (IND) application for a particular patient, and that will give them access. It’s not entirely straightforward, because then the problem becomes financial access. That treatment may or may not be covered, or it may or may not be financially feasible for the family.
For example, with Charlie, we had an IND for a drug. While there was an over-the-counter version of it, it wasn’t the pharmaceutical-grade version and the pharmaceutical-grade version was only available overseas. To import it from overseas, it would have been around $6,000 to $8,000 USD a month, out of pocket. Unfortunately, that just wasn’t in the cards. There were just so many other barriers to getting that medication, even though, technically, we had an IND saying she could use this drug. 

Juliet: Are there ways that rare disease biopharma companies can help relieve the financial burden on families to increase access and retention in their trials?  

Rachel:  Absolutely. The thing that really comes to mind is having patients involved in the clinical trial planning process. Specifically, including them early. I think it’s really doing everyone a disservice to involve patients too late in the process, and then you end up having to go back to fix the things that aren’t working. The key to this is really understanding the patient’s needs, what they would need to participate, and how to make it easier on them. Every disorder is so different, and it’s important to know what would be a challenge or what would prevent them from participating in a clinical trial.
From there, it’s about supporting their access. Stipends for travel, lodging, and food would be huge. So would understanding what the final cost would be for patients, given insurance coverage and the possibility of different insurance companies providing different coverage. What would you estimate the cost to be, and is it within reach? Because if it’s not, if you’re not giving patients access, then what’s the point? 

Juliet: What are your hopes for the Charlie Elenore Foundation? 

Rachel: I hope that it becomes a community. People helping other people. When you get a rare disease diagnosis, it can be really jarring, and you feel really isolated. So, you’re left thinking, “I have no idea what to do next,” but it’s actually so much more common than you would think.  

This is not the case for all doctors or specialists who give these diagnoses, but after I was given the diagnosis, they literally printed out this piece of paper and said, “Here.” And when I asked, “But what now?” They said, “Just go to the support group on Facebook.”  

People hear “rare,” and they think uncommon. But rare diseases are pretty common; there’s just a lot of different diseases. So, a lot of times when you get this diagnosis, you’re like, “I don’t even know where to start. I don’t even know anyone who has it.” But then you start reaching out, and you realize that there are a lot of people who are on the same journey, just for different disorders.  

Juliet: What is one takeaway you want people to remember about how your foundation supports families impacted by rare diseases? 

Rachel: I think the one takeaway is that the most hopeless feeling, or the worst feeling I’ve experienced as a parent, is knowing that there is a treatment out there and I couldn’t access it. It felt just so hopeless. And what I want to do, and what I think everyone, including pharma and biopharma, should do, is whatever we can in our power to make sure that people can access the treatment they need. I think that that’s really the core of it: if it’s there, we should give access to those who really need it. 

 Learn more about the Charlie Elenore Foundation here.