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Rare Disease Patient and Advocate Talk Actions You Can Take

“We don't believe patients should have to start their own drug company to save themselves or save their child,” says Julia Jenkins, policy expert, at the PDA Annual Meeting.

From Left: PDA Annual Meeting co-chair Amanda McFarland, MS; Julia Jenkins; and Kelly Baker.
From Left: PDA Annual Meeting co-chair Amanda McFarland, MS; Julia Jenkins; and Kelly Baker.

At the PDA Annual Meeting this week in New Orleans, attendees had the chance to hear from EveryLife Foundation executive director and leader of a number successful initiatives, Julia Jenkins, on the economic impact of rare disease in the U.S. and Kelly Baker, a member of the Young Adult Rare Representatives (YARR) group, on her perspective as a patient living with a rare disease and using home parenteral nutrition (HPN). Baker discussed a number of ways that her diagnosis of chronic intestinal pseudo-obstruction (CIPO) has changed her life, and how HPN allows her not only to survive but to thrive as a current nursing student, summer camp counselor for children with special needs, and more.

In a highly detailed Q&A session, audience members asked the duo about actions manufacturers and individuals can take, how patients manage drug shortages, the role of AI, and more. [Editor’s note: some answers have been edited for length.]

Q: What can manufacturers do to ease rare disease patients’ burdens in the meantime while someone is (hopefully) out there seeking a cure?

Kelly Baker: In manufacturing, I think the biggest issue is supply shortages for a lot of us. In the last 10 years, there hasn’t been one time when all parenteral nutrition products have been in adequate supply at once. I think that's led to a lot of issues for many of us—even before COVID shortages—in the last 10 years. I personally have gone without medications because they weren't available or have gone without tubing for a certain pump because it wasn't available, so I had to switch to bigger pumps that were only on IV poles, or ones that weren't as easily carried around. But especially going without medications, that's been the biggest issue for us.

Julia Jenkins: We can’t fix all of these problems without partners that are in the space doing the work. We can work towards solutions together, but if we don't understand the challenges that are happening at the factories that are making these [products experiencing shortages] happen, we can't change and fix that with public policy. That's why I really invite all of you to engage and work on policy solutions and regulatory solutions with us so that we can ensure patients get access to what they need.

Q: In regard to the extremely challenging patient odyssey in getting a diagnosis, do you think we're looking at changing the way we educate doctors?

Jenkins: Kelly and I were actually having a chat before this panel… her own patient organization has a conference, but then they have a completely separate conference for the medical clinicians. Wouldn't it be powerful if those conferences were together where the clinicians were actually getting to engage with patients on a more social level and really understanding what their journey is? I think that a lot of times there's a missed perception of what the disease symptoms are, because what's described in a book might not be what the patients are experiencing, and that's going to cause the delay in diagnosis if you don't fit what is in their definition in the book.

The more that we can engage the patients in every table and every process, the more we can start changing those perceptions because, unfortunately, there are horror stories: children being taken away from parents where they believe the parents are abusing them, or that people are considered to have a mental health issue because they aren't believed. I think we have to start believing patients and we have to remove the burden from the rare disease patient of having to get their own diagnosis. Because in the rare disease community, every step in the process falls on a patient—they have to get their own diagnosis; they have to start their own nonprofit; they have to fundraise, start a GoFundMe to fund basic research; start their own registry; and they have to convince a drug company to develop a treatment or even start their own. We don't believe patients should have to start their own drug company to save themselves or save their child.

Q: The Parenteral Drug Association has been working with the FDA and companies to eliminate drug shortages. Kelly, what do you do when there's a drug shortage? This is your life saving combo and sometimes drugs might be on shortage for months, if not maybe years. How do you manage through that?

Baker: Fortunately, [my pharmacist] is very helpful in navigating these things. Specifically, the medications I've been on that were short are things that usually can be replaced. There's been some things that such as protein or copper additives into the TPN [total parenteral nutrition] that they had to replace with other brands, or were only doing every other day, so that I was still getting enough to live off of—kind of rationing it—but it wasn't as much as I was getting [prior to the shortage].

For some things I had an acceptable replacement, but for me, I had a bit of a different reaction to it, and it just doesn't work quite as well. I had IV nausea meds that were out, so I had to switch those over to oral medications, which just don't work very well when you're vomiting. So fortunately for me, everything's been able to be replaced with other things, it was more of an inconvenience. But I know there are patients who have lost access to life-saving medication and there just really wasn't any other option but to go back to their provider and go back to palliative care.

Q: Again around the patient odyssey that many people go through to get a diagnosis, it seems to be a lot of human error in the process where professionals and doctors veer into the excuse, "It's all in your head.” Can technology assist this decision-making or what is in progress for guiding this journey?

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