John Wolf became a leading advocate for CTX patients after his daughter was diagnosed with the rare disease.
Back when my daughter, Ashley, was diagnosed with cerebrotendinous xanthomatosis (CTX) in 2004 I quickly became aware of how rare this disease is. I immediately started researching CTX and started seeing doctors’ names coming up, but I really wanted to get in touch with patients or caregivers. It took six months of searching before I finally found a small support group.
Since the early symptoms of CTX appear rather benign, manageable conditions with the more severe symptoms occurring later in childhood to early adulthood, it’s easy to misdiagnose. That, combined with how rare it is, it’s easy to see how it can be missed.
Ashley had chronic diarrhea from birth, she struggled in school, had problems with learning and memorization, juvenile cataracts, and low weight. As she transitioned from infant to toddler and ate solid foods, the diarrhea became very apparent; that is when we started taking her to doctors to try and find out what was going on. Her pediatrician assured us that she would grow out of it, and we accepted that for some time. She was ultimately diagnosed with irritable bowel syndrome (IBS) and prescribed antidiarrheal medication, which worked for a period of time but eventually stopped being effective.
About a year later, when Ashley was 10 years old, she developed cataracts and the true diagnosis was discovered. We had never heard of CTX before. In my opinion the ophthalmologist saved her life.
I suggest other patients and caregivers of patients learn as much as possible about the disorder. Never give up, be persistent, and always ask questions. Make sure your doctor is providing the best care or is referring you to the best care possible. Know that you are not alone in your experience with the disease, and that the treatment is effective. Insist that a specialist who is educated about CTX conduct ongoing care.
With continued treatment, children with CTX can go on to live a normal life. The medication is a lifelong treatment so it is imperative that patients develop an independent habit of taking it properly, as early as possible, or that someone is appointed to ensure that this occurs. The medication replaces a bile acid in CTX patients that their liver doesn’t make.
In talking with other patients I realized early on that they had all experienced medical barriers in terms of treatment. That was the catalyst for me to put my foot into the advocacy space and start knocking on doors, sending emails and trying to figure out how we could establish a regular supply of this medication, not only for my daughter, but for everyone else that is currently diagnosed and those who are surely to come. That is how I got involved with the United Leukodystrophy Foundation (ULF). I’ve been on the board about nine years.
Ashley has been a rock star through all of this. She’s been inconvenienced with surgeries, and tests, and long stays in research labs and rightly makes the observation that it’s not fair and asks the “why me?” questions, but she hasn’t let her experiences diminish her outlook on life.
By all measures, Ashley is doing great now. She turned 21 in February and I am happy to say 11 years after diagnosis, that if you were to sit and have a conversation with her, you’d never know that this horrible disease has affected her.
Awareness and early detection is imperative. The sooner one can start treatment, the sooner the body chemistry can be normalized and the sooner symptoms can be prevented from developing. Ashley is a poster child for the effectiveness of the medicine. We’re very lucky that she’s still healthy.
When you look at the CTX patient population in the U.S. it’s very small, but there are people we don’t know about who are flying under the radar without a diagnosis. I’m confident that because of the neurological effects, a person can become severely disabled with this disease if left untreated.
Huge strides have been made to provide a standard of care for patients. But, I feel like there are a ton of other things that still need to be done: treatment protocols, research, and newborn screenings, which is going to be the next best thing to a cure if you can get someone started on treatment at birth.
I don’t think there’s any better answer than genetic therapy; I would really like to see that happen. We’re currently seeing strides in that area with other leukodystrophies, so I see it as a realistic possibility, but until then we’ve got to get these stopgap measures in place.
I’m inspired by the amazing individuals who have cared enough to listen to me, who have cared enough to invest huge sums of money, time, and effort to advocate for patients of CTX. They continue to work tirelessly to improve diagnosis, treatment, and care, and share the same passion that I do to help, despite the very low patient population.
I don’t feel like my work is done, though, in what I can do to be an advocate. There’s still much more to be done from an awareness and diagnostic perspective.