30+ Years Without a Diagnosis, Until Now | Abbey and Zach Cook 

In this episode of My Hero 360, Kerri Fitzgerald speaks with two heroes—first, Abbey Cook, the mother of two sons who were misdiagnosed for years, and second, Zach Cook, one of her sons who was just recently diagnosed with the rare genetic condition cerebrotendinous xanthomatosis (CTX). The Cook family went years without a proper diagnosis, but a new FDA-approved treatment option, coupled with the correct diagnosis, has made a big impact on their life.  
My Hero 360 would like to thank the CTX Alliance for their partnership on this interview. 

Key Highlights: 

• Hear how it took the Cook family over 30 years to get a proper diagnosis of CTX. 
• Listen to Abbey’s recommendations for parents or caregivers on how to advocate for a loved one dealing with a health issue. 
• Be inspired by Zach’s poem that puts into words how it feels to live with CTX. 
• Heed Abbey and Zach’s advice to consider rare diseases during a prolonged health journey. 

-Transcript-

Voiceover:

This video was developed in partnership with the CTX Alliance. Learn more at CTXAlliance.org.

Kerri Fitzgerald:

Hello and welcome to a special episode of My Hero 360, the storytelling community that seeks to amplify the voices of remarkable individuals whose stories ignite inspiration and drive positive change. My name is Kerri Fitzgerald, and today we are joined by 2 heroes. First, we’ll speak with Abbey Cook. Abbey is the mother of 2 sons who have a rare genetic lipid disorder called cerebrotendinous xanthomatosis or CTX for short. Abbey will share her perspective as a mother and advocate for her family. Then a little bit later, we’ll be speaking with one of her sons, Zachary Cook, about his experience navigating his health journey. Abbey, welcome to My Hero 360, and thank you so much for being here.

Abbey Cook:

Thank you, Kerri, for this opportunity to tell our family story.

Kerri Fitzgerald:

Just a little background on CTX. It’s associated with high cholesterol levels in the blood, which can lead to several different hallmark symptoms such as childhood cataracts, neurological impacts, and the development of something called xanthomas, which are nodules that appear on the tendons, often on the hands. Abbey, can you tell us about your personal story, how you and your family came to this CTX diagnosis for your sons, and what your reaction was to learning about all of this?

Abbey Cook:

Thank you, Kerri. I’m going to share a long story because this is typical of the diagnostic odyssey usually involved in getting to the diagnosis for a rare condition. You’re going to see misdiagnosis, wrong treatments, and long delays. Zach started to feel pain in his feet in 2017, so he began to see a podiatrist at a highly respected Boston hospital. At an appointment in 2019, I noticed that there was a thickening on the backs of his ankles. The podiatrist did order MRIs and followed up with Zach’s primary care provider, or PCP, and we continued to see Zach’s PCP, but she didn’t provide a concrete direction for how to address this thickening on the ankles. A second podiatrist thought the swellings might be due to an autoimmune condition, so we saw a rheumatologist, but the rheumatologist wanted to put Zach on something that would’ve suppressed his immune system. We were in the midst of COVID, though, so we decided that there wasn’t enough compelling evidence that this would be a helpful treatment, so we did not pursue that route.

We saw a third podiatrist, and I will never forget sitting in his office. He read through the entire file, it took a great deal of time to read every symptom, and finally he looked up at us and he said, “Have you seen the results of these MRIs?” I hadn’t. He explained that the swellings on Zach’s ankles were likely xanthomas. That’s what the radiologist had found back in…several years before seeing him in October of 2022. He said that the radiologist suggested they might be caused by a cholesterol condition, but that this was beyond his specialty in podiatry. With this new knowledge that the swellings on Zach’s Achilles tendons were called xanthomas, as you mentioned, and thank you for introducing that, I did an image search on the web as a first step to finding out what caused them.

Kerri, I was shocked and brought to tears when I saw that the Achilles tendons of other young adults that looked exactly like Zach’s, and further, that this was not just a pathology of the tendons, but the brain and many other areas of the body were also affected. I learned that these symptoms were caused by a disease called, as you’ve mentioned, cerebrotendinous xanthomatosis or CTX. Zach had almost every characteristic associated with the condition, including what were then very serious psychiatric symptoms. We learned that CTX is a leukodystrophy, a disease of the brain’s white matter. Not only the metabolic issue, it’s the issue that causes the leukodystrophy, the damage to the brain. We requested testing for CTX, an appointment at Mass General’s Pediatric Leukodystrophy Clinic. Despite the fact that Zach was 30 years old, I could find no doctors for adults with expertise in CTX.

I have since come to learn that this is a difficulty for many CTX patients diagnosed as adults. Dr. Eichler confirmed that Zach had most of the symptoms of CTX, and that very same day, the testing came back with a CTX diagnosis as well. This was the biochemical testing. After Zach’s diagnosis, we asked that Ben be seen, and it was determined that he had CTX as well. Had it not been for Zach’s diagnosis, Ben would likely have developed some of the terrible symptoms that accompany a late diagnosis of CTX. We now understand that the learning and executive functioning issues, visual, and auditory processing problems that Ben has experienced throughout his life are all very likely a result of CTX.

Kerri Fitzgerald:

You talked about this being misdiagnosed or underdiagnosed, and that earlier diagnosis and intervention can have an important impact. What are some ways that diagnosis and screening for CTX can improve, in your opinion?

Abbey Cook:

The most important thing we can do is to catch new cases at birth by adding CTX to the state screening panels. Thanks to the work of researchers for over a decade, there is a test that is extremely accurate, and it can be added with very little cost to the current protocols. However, at this time, there’s no federal guidance for the states on adding new conditions to their panels because the committee that advised our Secretary of Health on this important public health initiative, newborn screening, was dissolved earlier this year.

On July 9, just a few days ago, Florida became the first state in the US to offer comprehensive whole genome sequencing to all newborns, and they’re screening at birth for over 600 genetic conditions. I hope this initiative will lead the way for the rest of our country. But there’s another thing. That will be helpful for catching those at birth. But what about the people who, like my sons, have been walking around for decades with CTX? Another important priority of the CTX Alliance is to establish a patient registry, which will gather patient data from all over the world, and this will greatly improve research for researchers worldwide.

Kerri Fitzgerald:

How do you think your families and specifically your sons’ lives might have been different if this was diagnosed earlier?

Abbey Cook:

Our sons would’ve been subjected to fewer negative experiences with other people. Without the behavioral and cognitive problems caused by CTX, I think they would’ve improved social contacts and relationships. Right now, unfortunately, they’re not able to work completely independently. They both have jobs; however, it’s not enough for them to live on their own. Our family went through some very dark times in the 30 years that it took to discover the CTX. We were experiencing an increasing level of stress as the symptoms became more severe and new symptoms appeared. This was all operating in the background. We had no idea there was this underlying neurometabolic condition at work. It really took a toll to have this constant stress and constant depression in our family. If we had not had CTX, I expect that we would’ve avoided much of the wear and tear. Also, we now carry the worry of uncertainty with regard to their future health. I can’t emphasize enough that an early diagnosis for CTX is critical, and there is an FDA-approved oral treatment that is very effective.

Kerri Fitzgerald:

Yeah, the condition affects the person, and it also affects the family, so that’s…I think you sharing and talking about this is really important and really helpful for other families that are going through this or a different health condition, so thank you for talking about this.

You mentioned a treatment. I want to get into that in just a minute, but I have one more question about the diagnosis. You’ve talked about, when we originally spoke, being somewhat disappointed in the journey it took, the amount of time it took, and I know that I’ve heard from other individuals that we’ve spoken to with rare conditions that the time to diagnosis can be long, just due to the rarity and lack of understanding in some parts of the medical community. What would you want to impart to the medical community to improve the experience for patients and their families who are dealing with this or other rare conditions?

Abbey Cook:

For the medical community I would say doctors and clinicians, please keep an open mind. Your patient and their parents have many more hours of observing their child. Please listen well. Gather all of the features of your patients along with the medical, include school observations, learning and behavioral problems, along with testing that may occur outside of a medical setting such as neuropsych, audiology, optometry, speech and language, physical and occupational therapy.

Parents can help by summarizing these all on a 1-page document. I would also suggest doctors and other clinicians, please consider rare in your diagnosis. The training that you have received, it would be ideal if it included the suggestion of being open to considering rare. Please keep an open and receptive mind. There are 30 million Americans with a rare disease. Each disease may be rare, but collectively they’re not. Finally, employ the tools of genetic testing if parents are open to that. Lastly, as AI develops, it may be useful for generating differential diagnoses for you to consider.

Kerri Fitzgerald:

Those are great points. That’s important to point out. You mentioned treatment. Your sons, you’ve told me, are now receiving treatment specifically for CTX. As you mentioned, there was a recent FDA approval for a medication, chenodiol, that is indicated for CTX. What has the impact been like that you’ve observed in your sons following the correct diagnosis and now that they’re on a specific treatment plan that’s tailored to that?

Abbey Cook:

Every day I wake up with renewed energy. I’m no longer wandering around…I liken it to being in a dark cave. No longer in that cave because I see improved health. Zach has emerged from a painful and troubled isolation to realize his true nature as a loving, thoughtful, and very brilliant man. Ben has remained stable, which is a feat in itself for a late CTX diagnosis at 32. He continues to be very artistic and clever. I also want to add, I am so grateful for all of the researchers and clinicians who discovered an effective and simple treatment, as you mentioned, now approved by the FDA. I’m also thankful every day for the clinicians who continue to treat patients and the researchers who continue to unravel the mysteries around CTX. This is a community of researchers and clinicians who are incredibly dedicated.

Kerri Fitzgerald:

Absolutely. You mentioned earlier, the CTX Alliance is a patient organization dedicated to providing resources and support as well as promoting research for CTX patients and their families. How did you get connected with the CTX Alliance, and how has this resource helped you and your family?

Abbey Cook:

Well, a few months after our diagnosis, I had researched organizations that support families with CTX and families with leukodystrophies. I met several CTX families at the CTX Alliance learning sessions that were within and continue to be within the annual United Leukodystrophy Conference, and I hope that everyone will pick up on that organization as well, the ULF, the United Leukodystrophy Foundation. In any case, the stories and challenges and the character and courage of the incredible CTX families made a huge impression on me, and I realized that my family was no longer alone.

I also gained valuable knowledge of the condition from the patients and the caregivers and the CTX Alliance medical and scientific board who were among the presenters at this conference. When I saw the important projects that the CTX Alliance was working to accomplish, for example, screening for newborns, earlier diagnosis, a patient registry, among other things, I was very encouraged not only for my family, but all CTX families. Last fall, I was delighted and honored to be asked to join the board. The CTX Alliance does a great deal for the community with a very hard-working executive director getting the most from small budget. I just want to put in a shout out to the Alliance. I encourage support for the CTX Alliance, whether through a gift or by volunteering skills.

Kerri Fitzgerald:

That’s amazing. It’s great to find other people who can truly relate to what you and your family is going through. What was that like to get to…or what has that been like to speak to people who really understand what your family is going through?

Abbey Cook:

It has been incredibly supportive, and within the larger leukodystrophy community, I’ve met so many heroes, and I hope some of them will also give their stories, discuss their stories, with you. It’s opened up a whole new world for us. We’re no longer isolated, and I’m so grateful for that every day.

Kerri Fitzgerald:

That’s amazing. It’s an important resource. On that note, what would you say to mothers or parents who are confronting a similar medical challenge with their own child? What words of encouragement or wisdom and support would you offer to them?

Abbey Cook:

I would suggest mothers, and dads as well, and all caregivers, find doctors who are both thorough and open to learning. Most doctors will never have a patient with CTX, but they have to at least be open to considering the possibility of a rare diagnosis. Listen to what the physicians are saying, but realize that your own thoughts and impressions are valid and important. You might also seek additional medical opinions. Finally, we’ve talked about community, connecting to a community of families experiencing the same or similar conditions. The Cook family is now part of 4 communities: CTX, the leukodystrophy, the rare disease, and the community of people with disabilities. Each of these give me daily encouragement and inspiration.

I have a list of suggestions for the families that I think might be helpful. One of these is to create a 1-page document. I mentioned all those different, outside of the medical setting, observations. Doctors may not be aware of all these other things, and that was the case with our sons, and I also, this is very important to stress, so when your child turns 18, ask them to provide written permission for you to access medical records and to interact with their clinicians. After Zach turned 18, the first PCP he was seeing wouldn’t even let me be included in his appointments, so I didn’t have as good a grasp of his medical status as I did when he was a child.

Finally, I’ve learned that some leukodystrophies and other rare diseases can present with autism spectrum disorder or autistic-like behavior, as was the case in our family. ASD is a description of symptoms. It’s not a diagnosis. If your child has ASD symptoms, consider genetic testing. These symptoms may be caused by a treatable medical condition, and CTX is a perfect example of that. Autism occurs in about 13% of CTX patients. These are the things that I’ve been thinking about when you asked me some of these questions which I think would be helpful for future CTX, leukodystrophy, and rare families.

Kerri Fitzgerald:

Yeah, absolutely. You brought up a lot of really useful information, and I think just the take-home point of being an advocate, whether it’s for yourself if you can, or if you’re in a caregiving parental position, really advocate. You know this person best. You’re with them day in and day out, so thank you.

Thank you for sharing your story. Thank you for being a fierce advocate for your sons and your family. I really believe that your words will touch a lot of people and help others who are in a caregiving position and looking for strength and support. Thank you, Abbey, so much.

Abbey Cook:

Thank you, Kerri.

Kerri Fitzgerald:

I am now joined by Zach Cook, one of Abbey’s sons. Zach, it’s so great to speak with you today. Thank you for joining us.

Zach Cook:

Happy to do it.

Kerri Fitzgerald:

We just spoke with your mom about your health journey with CTX. Can you share from your perspective what it was like to learn that you had CTX just a few years ago?

Zach Cook:

For years and years, I was misdiagnosed with Asperger’s syndrome, which is on the autism spectrum, and I had social problems, and I had fewer friends than I wanted, and when I found out that the underlying condition was actually something that was treatable, I was ecstatic. I became a different person after my diagnosis. I had a life coach, someone who helped me by saying, “Okay, if you want to get better socially, you need to have social interactions. You need to go out into the world, and you need to find different things that you can appreciate and enjoy and find people of a similar background who also enjoy those things.”

When I first started working with her, I had CTX and I hadn’t been diagnosed and I hadn’t been treated. My dad said to me, “The very first day that you were treated, you said hi to her, something you had never done before, and you actually made her breakfast.” I became a whole new person after my treatment. But my life was like a book. But I opened the book and most of the lines are blurred, but now each and every line is crystal clear, and that allows me to function at a higher level than I ever had when I had not been diagnosed or not been treated.

Kerri Fitzgerald:

That’s a great way to put it, that the lines were blurred and now they’re not. I’m glad that you were able to find treatment that works and you’re seeing the effects of it. Your mom told me that you’re very creative and you wrote a poem about what you were experiencing with CTX. Would you mind sharing that with us?

Zach Cook:

No, I don’t mind at all, please. Damaged tender heels, bloody toes, and tendons swollen. Pain and suffering of what my thoughts, peace of mind is stolen. Knees aching, limping quickly, quads complain, and so do aching feet. Cold wind nips and mild breeze blows. Neck is touched by heat. My hand is clenched into a fist, the fingers are curled and tight. I now have to do with my left hand what I once do with my right. My shoes, they scuff until I remind myself to walk with them pointed towards the sky. As my legs work, my thoughts stay raised, and there are times when I wonder, why? Taking it upon myself to hobble from that which I can never flee. Trapped in my head, occurrences years past in my thoughts I see. There’s no escaping the chemicals and stress caused by my blessed and cursed brain, memory for something that’s good, but mostly bad, but words are much the reason. I stay sane.

Kerri Fitzgerald:

That’s a beautiful poem. What did it feel like to put what you’re feeling into words and onto paper?

Zach Cook:

Well, there are times when I wrote and I just didn’t think about what I was writing. But this time I actually thought about it and I said to myself, “Okay, I don’t want this to be…” My mom compared my poetry to Alexander Pope, and I had no idea. I mean, I knew he was a poet, obviously, but I didn’t know what his poetry was like. She said, “It’s sort of…” It’s not as, maybe not as smooth the Shakespeare’s, but certainly more erratic and all over the place, which is exactly what people with CTX actually have to worry about. But this poem right here, really, I sat down and I carefully thought about it and it felt good to get on paper, but at the same time it was like, “Wait a minute, is this really where my life is going? Is it going to be years, decades before I can do something about it?”

There are people who deal with problems, mental problems, health problems, physical problems sometimes. I have both have a mental and physical disability, and that I’ll always have one. I spent a lot of time as a kid reading a ton, which is something that I actually didn’t think I’d be able to do when I was a kid, because when I was a kid, the other children had no problem reading or writing. I had problems with both. Then something just clicked. I’m not sure what it was. I’m not sure what caused that. But in the middle of first or second grade, I just became very good and I enjoyed with words, and I was able to maybe not speak very well just because my CTX made me very all over the place, but my passion for words is unparalleled. I think the only thing more important than words to me are family and loved ones. My mom calls me a wordsmith. I’m not sure if I am, but she seems to think that I have potential as a writer.

Kerri Fitzgerald:

Well, your poem certainly displays that. You’re writing a children’s book, right?

Zach Cook:

Oh, I finished a children’s book. I finished the first draft.

Kerri Fitzgerald:

Okay. What is it about?

Zach Cook:

It’s about a girl who lives in England in the mid ’40s, a little before the end of the Second World War, and the nice thing about this book, which I never was able to do, I could never have done this if I hadn’t been diagnosed and treated, it allows me to take words from different things I learned in the past and put it onto paper. My first grade teacher said about me, “He is rich in vocabulary, but he’s a perfectionist.” That still holds most true to this day. It’s about how she grows from a little girl to maybe not a young woman, but certainly she grows emotionally and spiritually, she evolves. She was mature to begin with, but she learns these things and she understands these things that she wouldn’t normally understand or appreciate. She has a father who’s a lawyer, a solicitor, and I incorporated multiple elements to it so that way it can appeal to…

I mean, initially I wrote a lot of…I read a lot, I should say, of 19th-century literature. One of the ones I read was Dickens. From what I understand, Dickens was paid for by the word, so his sentences were long and complex, and my sentences were long and complex. It’s a voice that I developed and evolved. When I first started writing, I saw…before I started writing even, I saw 2 children, 5 or 6, playing with their dad’s iPads on the T train, which is a subway in Boston, and I said to myself, “If they are playing with their dad’s iPads at that age, they’re not going to be doing much else other than on their phones or on the internet or playing video games.”

I said to myself, “I’d rather children read or teenagers, young adults read than be involved in just the digital or electronic world.” I sat down one day, and this is one of the few times I ever did this, and wrote two and a half pages in one…and my mom said to me, “This is really good, Zachary. Wow.” The book is a culmination of several years, sorry, several years, 30 years, actually, of not being able to write at my full potential or think at my full potential.

Kerri Fitzgerald:

I mean, it sounds like you have an incredible family that’s supporting you, and now with this diagnosis for all of you makes everything a lot clearer. You feel like you have something you can anchor to and work towards. It sounds like writing is an incredible outlet for you, and I hope you write that series. You’ve kind of talked about this already, but just to sum up everything you’ve said, what do you want people to know or understand about CTX and about rare conditions in general?

Zach Cook:

There have been many diseases over the years which people have said, “Oh, this is one of the worst diseases out there.” Let me give you an example, smallpox, that’s killed Lord knows how many millions of people. There was an attempt to eradicate the disease, and fortunately, thankfully, the disease was…there’s no case of smallpox anymore. But that’s a spectrum. You have diseases that are so rare that only few people have it, maybe only a hundred people in the States have CTX. We have to have doctors who appreciate the smaller things, the diseases that people are less likely to have.

But my mom, God bless her, she did the research and she found out what doctors weren’t able to. My mom is a very smart lady, so I just think that people should really appreciate that there are diseases out there. Just remember that even if you think that the world is coming to an end, because from many parents’ perspective, it will come to an end if they can’t get their kid the proper treatment, the proper diagnosis, the proper cure or whatever. I think doctors and people should be more aware.

Kerri Fitzgerald:

Well, I’m glad you have this treatment. You have this incredible family, and thank you so much, Zach, for sharing with us today your perspective. Your story is very important, and we know that it will resonate with other individuals and families that are dealing with something similar. Thank you again.

Zach Cook:

You’re welcome.

–
Learn more about the CTX Alliance:  
https://ctxalliance.org/  

About My Hero 360: At My Hero 360, we honor, celebrate, and connect heroes worldwide. By sharing their stories, we aim to inspire and provide hope for humanity. Follow us to hear more incredible stories of unsung heroes who make a difference in the world. 

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