Undiagnosed For 27 Years With CTX | Hollisa Rosengrant
In this episode of My Hero 360, Kerri Fitzgerald speaks with Hollisa Rosengrant in honor of CTX Awareness Day on September 17 about her experience living with the rare genetic lipid storage disorder. After noticing a bump on her knuckle at 27, a biopsy revealed that she had been living undiagnosed with CTX her entire life. Hollisa now serves on the board of the CTX Alliance where she advocates for continued education, awareness, and research surrounding rare disease care. This episode shines a light on all that the CTX Alliance is working toward to improve outcomes and opportunities for the CTX community. The episode was developed in partnership with the CTX Alliance.
Kerri Fitzgerald:
Hollisa, welcome to My Hero 360.
Hollisa Rosengrant:
Thank you so much for having me.
Kerri Fitzgerald:
Hollisa, I want to talk to you about your experience living with a rare genetic condition called cerebrotendinous xanthomatosis, or CTX for short. Can you tell us about your CTX story?
Hollisa Rosengrant:
I was diagnosed with CTX at the age of 27. For me, it started with a bump that formed on my knuckle, and I wanted the bump removed. It was not a cyst as I thought it would’ve been. I went to an orthopedic surgeon who, after X-rays and an MRI, saw that there was some kind of growth growing on the tendon of my hand. Since he didn’t know what it was, his best approach was just to remove the part of the tendon and go from there. I had 2-part surgery after that. Then he biopsied it and realized it was a xanthoma, which is very common with CTX. From there, he biopsied it more and saw my medical history. I had cataracts in the past. He tied it all together, and he basically called me up and said, “I think you need to call this specialist in Oregon who deals with this rare disease called CTX.” That was the beginning of my story.
Kerri Fitzgerald:
What did it feel like learning that you had this condition? Because you said you had cataracts and now this, but before that…
Hollisa Rosengrant:
Shocking. I had no idea. I would never have guessed anything was that wrong with me. Yeah, being 27 years old and finding out something like that that you have this. Being told you’ve had it since birth is even more shocking because I didn’t realize it.
Kerri Fitzgerald:
Yeah, absolutely. You have a 9-year-old daughter, but when we initially spoke, you said that at the time that you were pregnant and going to have a child, there were very few documented instances of people with CTX having children. What were the conversations like at that time?
Hollisa Rosengrant:
Shortly after I was diagnosed, I got information and contact information for a doctor, Dr. Gerald Salen, who at the time was treating CTX women who were pregnant. I wanted to ask him, “Listen, is it possible one day that I could have kids with this disease?” He said, “Absolutely.” He’s like, “The most important thing is you have to continue your treatment of CDCA, and you’ll be fine.” I had that reassurance, which was very nice to have.
When it came time, almost 10 years later, when I had my daughter, every doctor I had was telling me to stop taking the medication because it wasn’t FDA-approved specifically for CTX, and they were just seeing warning signs that it was not safe to take during pregnancy. I finally did get one doctor who spoke with another doctor and agreed it was safe, but he wanted to monitor me more closely to make sure everything was going well.
Kerri Fitzgerald:
Of course. It’s important for anyone who’s pregnant and taking medication to talk very closely with their doctors and make sure that it’s safe. You mentioned CDCA was not approved at the time. It is now FDA-approved for CTX, correct?
Hollisa Rosengrant:
Correct. As of last year, CTEXLI was developed, and it was a big win for CTX Alliance to hear that. It was a great achievement to hear that finally, because we fought for that, and it was great when it finally happened.
Kerri Fitzgerald:
Yeah. It was being used off-label, as you mentioned, and I think it was indicated for maybe gallstones or something. It’s incredible that, as you mentioned, the CTX Alliance and many patients and families advocated for that to be FDA-approved for this condition. That’s incredible.
I want to ask you about the CTX Alliance. It is a patient advocacy organization that supports education and research for individuals with CTX and their families. You volunteer for the organization now; you’re a member of their board. I want to ask: how did you first get connected with the CTX Alliance?
Hollisa Rosengrant:
Those exact details I don’t remember… But I do remember I found a support group on Facebook for CTX families, and I did join that. That was my first time ever talking to people who could relate to CTX, let alone have heard of CTX. I’m assuming some way through that, my name got… I was invited to the first meeting, which was a virtual call. Then at that call, they’re like, “We want to form a board. Are any members here interested?” Of course, I jumped on because I thought it’d be a good way to share my story and push for things to happen.
Kerri Fitzgerald:
Absolutely. What are some of the things that you’ve seen since you connected with the organization, joined the board, been involved, some goals reached or missions achieved that have been really exciting for you to witness?
Hollisa Rosengrant:
Every year, we have our CTX Family and Scientific Symposium, which is held during the ULF conference. The planning that goes into that is a chore. I’m not exactly involved in that, but it’s always a great event because we have the best presenters who give us so much information. Overall, it’s just a great experience. I always suggest to families, if you could attend, it’d be a very good choice.
Again, the CTEXLI, that was a big thing that, again, we pushed for, and that came about. Then also last year, we had our first year of having our CTX Awareness Day, which, for being our first year, I think we were very successful in proclaiming multiple states for the day.
Kerri Fitzgerald:
To that point, we are actually releasing this episode on CTX Awareness Day. As people are listening, it is CTX Awareness Day, September 17. You said last year was the first year where you were able to get it declared. You personally are responsible. Something you’re working very hard and diligently on right now is that you are spearheading an effort to get a proclamation of CTX Awareness Day all across the US in every state. Can you talk about this initiative and why it’s so important for the Alliance?
Hollisa Rosengrant:
I’ve been reaching out to CTX patients, family members, caregivers, and sending information to their state government to proclaim that their state has a CTX Awareness Day. So far, we’ve sent information to 16 states, so we’re excited to see how many states we can get to send us back their state proclamations. We’re hoping we do bigger and better this year and all the years after. Of course, having a day that’s specific to your own rare disease is a big deal because you could blast it on social media and really get the word out there, and it’s important that we do that.
Kerri Fitzgerald:
Yeah. It helps amplify a rare condition that people may not have ever heard of. It also helps spotlight the needs that your community is advocating for and working toward, whether that’s awareness, education, treatment options, better education for clinicians to recognize this earlier.
One other initiative that I know is important for the Alliance is newborn screening. At the time of filming this, I think you’re very close to having the first state include CTX, screening for CTX on the newborn screening test that’s done for all babies born. What would this mean for patients and families if this were to go through in one state and potentially even more states?
[Editor’s note: Wisconsin became the first state to add CTX to its newborn screening panel. Learn more.]
Hollisa Rosengrant:
Well, let’s just say having 1 state is a huge accomplishment, and having Wisconsin be that first state, it only the first stepping stone and creates a pathway for the rest of the states to follow. We want that pathway to travel to every state. It’s so important. Again, I was 27 years old. How would it have been different if I was diagnosed at birth? I mean, I would probably be fine. It’s a big deal, and we hope it continues; each state follows Wisconsin’s lead.
Kerri Fitzgerald:
Yeah, absolutely. Being diagnosed earlier can help families get care that’s needed for their child, and even having a correct diagnosis, right? A lot of people with rare conditions, we’ve heard, can be misdiagnosed with something else and treated for something else for many years, which obviously doesn’t address the actual issues that the person may be having. Just knowing, awareness, as we’re really focusing on today with Awareness Day, just having that awareness is so important for families.
Hollisa Rosengrant:
Absolutely.
Kerri Fitzgerald:
I want to ask you, what are some other high-priority initiatives that the CTX Alliance is currently pursuing?
Hollisa Rosengrant:
Definitely newborn screening in every state and better education for all the healthcare providers. How many times do you visit a doctor and they have no knowledge of, “What is that? What’s your disease that you have?” It’d just be nice if every doctor already knew about it. Continued research to improve everything and better education for patients and families, just making people aware of all the new research being found and everything. It’s all important stuff.
Kerri Fitzgerald:
Yeah, absolutely. Education for clinicians, as you said, is so important because they’re an important piece of the puzzle in getting a correct diagnosis and getting the correct care and management and support that families and patients need.
How can people connect with and learn more about the CTX Alliance?
Hollisa Rosengrant:
We have a website, and that’s www.ctxalliance.org. Then from there, you can sign up for our monthly newsletter and we’ll be updated every month on the newest information, as well as we have CTX Alliance can be found on Facebook and Instagram. We also try to keep that up to date as well.
Kerri Fitzgerald:
Excellent. Hollisa, as someone who’s living with a rare condition, what recommendations or insights would you share with either parents or families or even other adult individuals like yourself who are navigating CTX or another rare condition?
Hollisa Rosengrant:
I would say find a community. CTX is so lucky. Again, we have CTX Alliance. We have a CTX support group on Facebook. If you have a disease that doesn’t have that, search social media; search for your disease. There’s a lot of rare disease groups out there. Join one of them and try to connect, tell your story, see if somebody responds to you. You don’t know who’s out there that could connect to you. That networking, just trying to find people, because if you have even one other person out there supporting you, it means so much. Definitely just reaching out as much as you can.
Kerri Fitzgerald:
Especially support from people who can understand very intimately what you’re going through specifically. Community is incredible, and it’s great that the CTX Alliance provides that for so many people.
Hollisa Rosengrant:
Yeah.
Kerri Fitzgerald:
Hollisa, we like to conclude our My Hero interviews by asking the same question of everyone. What would you tell your younger self knowing what you know now?
Hollisa Rosengrant:
I would’ve told myself to expect the unexpected. As a child, again, I was completely normal. In my mind, I was fine. Being diagnosed at a later age was shocking. Again, I’m lucky. I have a rare disease, which isn’t very lucky, but I have CTX Alliance. I have doctors who are devoted to CTX. There’s continuous research. The CTX community is so powerful and lucky that I know many of them and could reach out to them whenever I need something. Yeah, it’s just always be prepared because you don’t know what to expect in life.
Kerri Fitzgerald:
That’s awesome. Hollisa, thank you so much for sharing your personal story, as well as the impactful work that you’re doing with the CTX Alliance.
We’re so excited to celebrate CTX Awareness Day in partnership with the CTX Alliance. Thank you for speaking with me today.
Hollisa Rosengrant:
I really appreciate you reaching out to me. Thank you.
Connect with the CTX Alliance:
https://ctxalliance.org/
https://www.linkedin.com/in/ctx-alliance-023ba3231/
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