Cystinosis Awareness [transcript] [audio]

Guest: Rebekah Palmer

Presenter: Neal Howard

Guest Bio: Rebekah Palmer is a woman living with Cystinosis, a rare genetic metabolic disease that can lead to progressive, irreversible tissue damage and multi-organ failure, including kidney failure, blindness, and premature death. Her doctors predicted that she wouldn’t live past her twenties. However, at age 30, Rebekah has undergone a kidney transplant, survived lymphoma and is now a successful writer living in the Twin Cities area. Rebekah hopes to share her journey and raise awareness of resources for patients with the disease, including the recently launched website, Cystinosis United.

Segment Overview: Rebekah Palmer talks about her journey living with Cystinosis to help raise awareness of resources for patients with the disease including the recently launched website, Cystinosis United.


Neal Howard: Welcome to Health Professional Radio. I’m your host Neal Howard. Glad that you could join us today. Our guest is Rebekah Palmer. Rebekah is living with cystinosis. It’s a rare genetic metabolic disease and she’s going to tell her story and also talk about raising awareness through a recently launched website as well. Welcome to Health Professional Radio, Rebekah Palmer. Thank you for coming today.

Rebekah Palmer: Thank you for having me.

N: Who is Rebecca Palmer? What do you do and where do you do it?

R: I am currently a freelance writer living in Northern Wisconsin. I’m also a part-time student at the University of Wisconsin-Stout which there is no Stout, Wisconsin. We’re located in Menomonie spelled as actually the name of the gentleman that founded the academics in Menomonie.

N: You’ve been living with this condition known as cystinosis. What is cystinosis?

R: Cystinosis are the tissue damage. What it does is instead of myself processing protein like a body should, my self hoard the protein and this causes crystals to form in the cells. It’s a whole body disease. It’s not just one specific organ or tissue that it affects. It does have a progression. The first organs that go into failure because of the disease are the kidneys and then it’ll be on the cornea of the eyes and then muscles, pancreas, liver. It just kind of takes over the body unless a treatment is taken to slow down the disease. Today, there is no cure but there are treatment options available to slow down the process of the disease in the body.

N: How many people do you think are suffering from cystinosis?

R: They estimate between 500 and 600 people are living, well children and adults living with the disease in the United States and the estimate is 2,000 worldwide.

N: You’ve been living with it for quite a while. Talk about when you were diagnosed and what were the symptoms that led up to I guess your parents or someone saying we’ve got to do something about this and get it checked out?

R: I was diagnosed a little later than several stories I’ve heard my peers tell. Typically the symptoms are failure to thrive, excessive thirst, excessive urination, sensitivity to light, things of that nature. I was a smaller baby born. My dad’s side of the family is shorter and smaller. So I wasn’t exhibiting extreme symptoms in my infancy and toddler years. People would make comments about the shape of my legs. When I said that cystinosis, we don’t process protein. Part of that is a lot of the different nutrients that would cause bone and muscular health and growth that is lacking and somebody with cystinosis because of the excessive urination, a child is literally peeing out their nutrients, anything they eat or drink. I mean people noticed certain things like that about me. I was sensitive to light but I still am a very fair, blonde and blue eyed person. My mother really was the parent that mentioned concern to the doctors. When I was five years old, we went in for the kindergarten check up and they give you your booster shots and physical and everything to make sure you’re ready for school. My mom requested of the doctor to do a urine culture on me, because I hadn’t been feeling well. That’s typically not something they would do at a kindergarten check-up but because my mother asked, the physician did it. I ended up having to go back and repeating the test because they saw a bunch of sugars and proteins in my urine. They initially went with childhood diabetes because that was a family history thing and when they saw that I did not have childhood diabetes, they sent me to a larger facility and they did a kidney biopsy. They looked at a tissue from my kidney and saw the crystals and then they did an eye exam where they just looked in the cornea of my eye and it was filled with crystals and that’s how they diagnosed me with cystinosis.

N: You said that there are treatment options, of course no cure currently, how are you managing? How is this affecting your life today?

R: Today, I personally have chosen one of the two treatment options. Definitely somebody with cystinosis would talk to their physician about which one is best for them. I take medication throughout the day, also with being a kidney transplant patient, that’s another thing that can assist in quality of life for someone with cystinosis. When the disease does cause their kidneys to fail the kidney transplant is often done and I had my transplant in 1999. And I take my anti-rejection medication. I follow my nephrologist with that. I follow up with a geneticist and have chosen one of the treatment options. For me, I do experience some severity and side effects. I don’t work a full-time job in an office. I mentioned I’m a freelance writer so I choose my schedule. I did have a publisher with a couple of books I wrote and that was definitely something managed with lists between the publisher and I. It wasn’t getting to an office and currently, I’m taking online courses. If I do have a day where the symptoms are really not great from the treatment.

N: Definitely hasn’t stopped you. You’ve recently joined others affected by cystinosis to launch Cystinosis United. Talk about this awareness campaign.

R: Surely. Cystinosis United is a resource for cystinosis families and friends and those living with the cystinosis to go to and ask questions to get more information on the different treatment options, to get information on how to better manage living with a disease and make the best lifestyle choices for oneself. There’s several of us, myself included, we’ve shared our own life journey, some were parents, some were caretakers, some are like me adults living with the cystinosis that we’ve kind of given our perspective and tips that have helped us with managing life with disease.

N: What is the main takeaway that you’d like our listeners to ponder as someone who’s suffering from such a rare disease as rare disease day approaches?

R: Well at first pops in my head as a takeaway for listeners is rare diagnosis isn’t an end-all. Rare can be a beginning for something great in your life, if you look for it, if you create it with what you see your life being. An annual horizon has a campaign where we do like hashtag rare is and we say what it is. And while rare in my case I feel like rare is isolating that’s more the downside of it. But I also think that rare is worthy. My voice is important to be heard and other people living with this illness. Their story should be heard and including us in the community and hearing how we live our life is just only going to make for a better humanity, a better society.

N: Rebekah, thank you so much for talking with us today. Your story is very inspiring and I hope we get some updates as progresses.

R: Yes. Thank you very much.

N: You’ve been listening to Health Professional Radio. I’m your host Neal Howard. Transcripts and audio of the program are available at and also at You can subscribe to this podcast on iTunes, listen in and download its SoundCloud and be sure to visit our affiliates page at and also at

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