Keepin' It Rare

Always working toward being autonomous. Finding goals that I want to accomplish and figuring out creative ways to achieve that.

That runs very deep, but those break down to the way you present yourself. I have been primarily very involved in my local music scene, a lot of punk and rock music.

So I love changing my appearance and wearing fun clothes, getting a lot of tattoos, finding those kinds of communities — alternative communities.

Eventually, it just becomes your real life and beginning to advocate in those communities just by living. Finding like-minded people both within and outside of the disability community, specifically.

It’s a great idea to find a creative outlet to express those hardships and your joy. I’m a big therapy advocate. It’s not a cure-all. It’s not a perfect fit for everyone.

But I would recommend at least trying, even if you don’t think that it might be all that you need. I think it’s a good thing to try. Always share how you’re feeling with the people closest to you.

Living with a rare disease is a very lonely experience. I have several strategies for managing my mental health.

I like to try to take time out for myself, even if it’s just a small part of my day. I like to have periods when, if I feel tired, I try to relax.

I try low-level meditation. I mean nothing formal, but I just try throughout the day, clearing my mind and just sitting back and trying to calm myself. Trying to center myself.

And I enjoy listening to music, and I find that listening to music without a voice track or lyrics helps calm me and helps me work through anything that’s bothering me or problems that I need solutions to.

When it comes to caregiving and concentrating on self-care, I am willing to admit that I am still trying to find my way through that.

As a mom of a daughter that suffers from HAE, often times it was very difficult when she was much younger, but now that she's a teenager and she's a little bit more self-sufficient and she can give her own dosages of medication, her subcutaneous preventative, it's become a little easier to find those quiet moments.

I know that oftentimes when we think about self-care, we look for the big spa weekends, or we look for the big hotel stays or caregiver-cations, as we may call it.

But often times that self-care can be in that half an hour of sitting in your favorite bath while reading your favorite book, or that 25 minutes of sitting in your car with your favorite beverage and listening to your favorite podcast.

I've learned that self-care doesn't happen in these massive, parade-like moments, but often in the small little gestures that allows you to be able to refocus on yourself.

Hi everyone! My name is Cheryl Herbert, and I am a mom to a teenager with a rare disease — and I'm also a caregiver and an advocate. I'm also a member of the team here at the National Organization for Rare Disorders, otherwise known as NORD. And I want to talk to you briefly about state policy and advocacy and a tool that can help you understand how the policies in your state are impacting your care.

So I'll start by sharing that my daughter has a disease that impacts fewer than 75 people in the world. Actually, it affects multiple organs, and she requires really specialized and complex care. She has a team of about seven specialists, and they are in Boston, which is about two-plus hours away from us.

So what does this have to do with state advocacy? Everything. It has everything to do with state advocacy. And that is that we live in the state of Maine. And Maine actually is one of only four states in the entire country to earn an A grade in the NORD State Policy Report Card. And one of the reasons why it did so well is because of its telehealth capabilities.

Maine is a member of the Interstate Medical Licensure Compact, which allows us to access telehealth and virtual visits — which is so important to help us save some time on some of those visits for consults or appointments that don't require in-person exams.

Another reason why Maine did so well is because of protecting Medicaid eligibility, step therapy, and other patient protections. But again, Maine is only one of four states in the entire country to earn an A grade in the State Policy Report Card.

So here's what I'm saying. I'm saying that there's a lot more work that needs to be done around the country — and probably in your state.

So I encourage you to look up your state, see where they are lagging. There's nine areas in the State Report Card that are graded, and use this as a tool for your own advocacy and your own state, because where you live is impacting your care. And learn how you can help your state become an A student. So get involved. Thanks for listening, and have a great Rare Disease Day.

I would say getting into advocacy, for me, started with a friend pushing me on stage to talk about sickle cell, and I began sharing my experiences with different audiences. I think I was introduced by another columnist to spread awareness by writing blog posts every week.

I remember feeling a bit anxious about it because I didn’t see myself as a writer. But once I started writing, another friend said to me, “You’re just writing about things that you would talk about.” That really resonated with me, and I have been writing now for about four years.

You take one step forward and see what happens, and I definitely took that step. Now I am advocating in different spaces, talking about my experiences comfortably, and writing about them as well. To anyone wanting to get into advocacy, start in the way that feels comfortable to you, but always remember that nothing amazing comes from being comfortable.

Sometimes you do have to be uncomfortable, and sharing your experience can feel that way because you don’t know who it will resonate with or who will take that information you shared and spin it in a positive way for their lives, or share it with someone else.

So definitely take that little step. Start where you can — with your friends and your family — speak about it openly, and then see where that takes you.

So our daughter is currently seven years old, and at the time when she was treated for gene therapy, she was 18 months old, so one of the youngest in the world to receive that treatment. We’re very fortunate to get it at a young age. But what comes with the clinical trial is there’s no one that has gone before you, so we have no idea what lays ahead. We had no ideas about what was even possible.

So we’re always trying to push what we can do and trying to figure out, before something happens, what we can do. But if I’m completely honest, the future somewhat scares me because gene therapy is presented as a one-time treatment. We’re now about six years after gene therapy, and she continues to make progress. However, I don’t know what that looks like in the future. Like, will she continue to make progress? Will she plateau?

One thing we do do is stay very positive. And we have a very focused, forward progression for our daughter. So just to give an example, the doctors said she would never walk. She walks. Doctors said she would never talk. She talks. She would never go to a normal school. She was in a normal school. We’re looking at her being independent.

But then, at the same time, we also had to have backup plans. Will she be independent enough to where she could live on her own? Which is like a dream for any parent, especially for those in the rare disease community? Or will she need assisted care?

So we’re doing our best to keep that vision, that bright future for her. But at the same time, a lot of these contingency and safety nets have to be in place as well.

Having a rare disease and being a nurse, I found it really helpful. I feel like I’ve got a lot more empathy for my patients, and a lot of times I will share some of my personal story with them to make them feel more comfortable.

When you have a rare disease, it’s really easy to feel like you’re overlooked and to feel like you’re invisible, or that caretakers are kind of downplaying your diagnosis. And that’s something I’ve worked really hard to be more empathetic about.

And I have also shared with my team members the frustration and struggles that we go through as a rare disease patient. So seeing my patients’ faces has really kept me motivated to continue working. It’s been really helpful to see how much of a difference I’m making, especially with those rare disease patients that often get overlooked or feel misunderstood.

So my advice for any of those who do have a rare disease and want to continue working is to always remember to put yourself first. And if you’re not at your best, then you won’t be able to do anything. Only you know your body, and nobody else can tell you what you can or can’t do, or what you need.

I think there are quite a few benefits when it comes to many of the popular AI tools that are out there. Many benefits that actually attract folks in the rare disease community. For one, many of the tech companies that manage a lot of these AI tools, they’ve made their product quite accessible. And that is a whole lot easier than scheduling an appointment with, like, a physician or a specialist.

However, I think there are some other concerns when it comes to many of the tools that are out there today at least. I have many hesitations, to be perfectly honest. I have many deep concerns. Many people have a tendency to treat many of these AI tools as if we’ve already reached some sort of artificial general intelligence, and we are not quite, I believe, at a point where we can call anything that remotely resembles any sort of AGI.

And I think people expect more out of many AI tools than what these AI tools actually can offer. There is a difference in technical knowledge between what users may know and the answers that they hope to find, or the results that they are asking.

One of the main things I've learned to at least try to do is to try to manage expectations within the context of clinical research or clinical trial. Some families, some patients come to a trial with the idea that this is a treatment, and it's going to help them. That's the hope. Right? But the reason it's a trial — and I would just, I've just bluntly used the term experiment — I say, 'I want you to think of this as an experiment. What are we doing? We’re testing a hypothesis.'

One of the biggest aspects of clinical research, clinical trials that I try to explain from the very beginning, you know, we don’t know that this investigational product — I try not to say treatment — we don’t know that it's going to be helpful.

It may be harmful. And you, if you join this trial or if your child enters this trial, we may find out things that we did not want to find out. We may find out that there was much more risk there than we thought, and that it’s actually a dangerous treatment.

The other side of that is we would hope that, no, it ends up being a safe, beneficial treatment and leads to FDA approval and becomes available in the clinic.