Maya Doyle of Quinnipiac University and Allison Werner-Lin of the University of Pennsylvania conducted a scientific research study to understand the experience of adults and emerging adults living with cystinosis.
There are approximately 500 cases of cystinosis in the United States, an additional 2,000 cases worldwide, and about 15 new diagnoses made each year.
Before the availability of treatment, children with cystinosis faced early mortality, usually by adolescence. However, there are now cystinosis patients in their 40s and 50s, thanks to treatment options. However, the treatment regimen can be difficult, presenting unique and trying challenges for those in their adolescent years. Doyle and Werner-Lin’s study was aimed to bridge this gap.
Their study concluded six distinct strategies:
- Pushing and Protecting
- Coming to terms
- Finding a fit
The study used 46 participants: 22 adults with cystinosis and 24 parents of individuals with cystinosis.
Caregiver parents reported seeking out all the information they could find about cystinosis in an effort to educate themselves, family members, teachers, and eventually their diagnosed child. When patients reached adolescence, they also began to take ownership of this information to prepare for greater responsibility in their own day-to-day disease management.
Often, the information was given in small pieces; proportional to their child’s age, sometimes even in the simplest of terms. As the child grew, the information shared was more specific and frequent, including medical/clinic facts. Below are some quotes from transcripts:
Always very simply, based on his understanding. I mean we told him that he had cystinosis, that it was a disease that made his kidney sick, tried to do it a simple way . . . It’s always something we talked about from the age he could talk.
This could happen; your kidneys could fail. [My parents] were always real with me with what cystinosis could do. I could die. They were very supportive as well and educative about it.
We just tried to explain to her as much as possible what cystinosis is. I think we’re all on different curves as far as our learning and being able to describe what it does and how it works and it’s a genetic thing . . . I think she knows all that stuff. She learns a little bit at a time, and it’s always going in the bank. I may be discounting her. She probably can verbalize it much better than I realize she can.
Regimenting is creating systems and structures to organize patient care in the hopes of stabilizing and normalizing day-to-day care within a daily life. This is key to help gain some sense of control over the illness.
As reported in the study, when children with cystinosis are young, parents create a routine of administering the necessary medications, supplements, and nutrition as part of normal every day life. This strategy was even visible at conferences where focus groups and interviews were held; gastrostomy tube supplies and medication carriers were casually abundant.
And while some parents used creative ways to regiment this process, the key was to instill inflexibility of adherence, i.e. they must always carry out their regimen.
I think I started swallowing pills when I was 4, because I hated the grape juice mixed with pills. My dad would dress up as Vita-Man, with a mask and stuff, and I’d hide behind the couch. Dress up and make Dad look really stupid.
Taking medicines is the same normalcy as brushing your teeth in the morning. It’s just something you do, but it’s not something that takes you away from doing Scouts, or going to school, or church, or whatever else.
One thing that we always, always, always, back to the beginning, when we were trying to get him to understand the importance of medications, we always reiterated what would happen, that there are consequences if you don’t do this, and this might be what it does.
Pushing and Protecting
Pushing and protecting is best described as pushing your child to avoid letting obstacles their illness may present affect their goals and quality of life while still protecting them from risks and consequences associated with it. In other words, a balancing act.
According to the study, parents encouraged independence and risk-taking among their children, and expected them to accomplish some, all, or even more than their friends and siblings. Often, parents would set expectations for the real, post-adolescent world.
But they also made sure to protect their children from the demands imposed by their diagnosis and treatments. The balance aimed to promote the best possible health in the least restrictive environment.
You’re not going to tell me you’re sick and can’t do your homework. Oh, no, you’re a bright kid. There was just no compromise on any of that. We wanted her to be independent. We wanted her to succeed.
She had this little clique of girls that were all in dance, and one of the moms called me, and she said, “Do you know what your daughter’s telling everybody at dance today? That she’s getting a kidney transplant next week,” and I said, “She is.” “Well, she’s not sick?” and I said, “Well, she is sick, but she doesn’t want to be different.”
[My parents said] I don’t care what you do, as long as you go to college and do stuff.
Connecting is all the ways families and individuals with cystinosis connected with sources of social support who shared their experiences; whether it be those affected by cystinosis or other disorders writ large. Many in the study were active members of the cystinosis community through participation in advocacy groups, annual family meetings, online forums, or social media.
In many respects, I feel closer to this group of people than I do biological family. They [cystinosis family] know us in ways that our own family probably can’t know us.
Just having those connection lines and the comfortability of being able to just pick up the phone and call somebody whether any issue, and even if it’s not an issue, you being able just to have a conversation and relate exactly what you’ve gone through in the different generations is really helpful.
Coming to Terms
The study put it best:
“In raising a child with cystinosis, families established a philosophy about how life was organized around managing illness, rather than sacrificed to illness.”
So in this context, coming to terms is the negotiation of a balance between illness and the many other aspects of life, such as family roles, chores, activities, and expectations for the future. This management strategy tended to change over the diagnosed individuals’ lives, reflecting the many personal, social, and medical challenges that arose throughout the years.
Adult participants spoke about how they had come to terms with cystinosis by developing and adapting the philosophy established by their families:
It’s not all about having the disease. You’re more than just that.
Once you get to a certain age you’re tired of dealing with that smell and everything, but once you get more mature, you realize, life has problems, but you’ve got to deal with it. There’re a lot of people that’s a lot worse off.
Ten years from now, I want to look back, and I want to know that I moved my life forward and I lived my life to the fullest. But I also want to know that I did everything I could.
Finding a Fit
Finding a fit is an evolving and ongoing deliberation about a central idea: Is it integrating illness into family life or is it centering family life on illness symptoms and treatment?
Participant parents described a range of approaches to finding a fit—whether illness fits into family life or whether family life is organized around one member’s illness.
She was diagnosed at 14 months. My stubbornness kicked in, because I said, “we’ve had this child for over a year. She’s fun. She’s beautiful. We’re not going to live cystinosis as a life. We have a life, and we’re going to live it.
We realized real early—to have any type of life—we had to maximize the moment. No matter where we were going, what we were doing, we would always say, “Hey, we’re back together. Let’s go.” And it would be an adventure.
That’s the way we, as a family, have faced each one of these things, is deal with the problems that are closest at hand. Don’t get crazy about the ones that aren’t here yet. Do what you can to prepare for it, but, again, don’t let it ruin or control your life.