Family Matters

People with cystinosis have more reason to hope for, plan for, and achieve a full life today than ever before. In the past, most patients faced dialysis, a kidney transplant, or even death before the age of 10.1-3 But treatments for cystinosis have come a long way over the past few decades, and medication and renal transplantation advances have vastly improved the outlook for many patients.4 If treatment is started early and maintained consistently, people with cystinosis can expect longer lifespans, opportunities to engage in a wider range of activities, and the chance to pursue a vast number of careers and passions.4,5

At the same time, cystinosis remains a difficult disease that can place a heavy burden on patients and their families. If you are a person with cystinosis, handling the challenges of the disease will require constant effort and commitment. If you’re the parent of a child with cystinosis, you might fear the loss of an expected “normal” childhood for your son or daughter. A family that has a child with cystinosis must learn to cope with the direct impact of living with the disease while at the same time managing the emotional strain it can put on relationships. This includes marriages, relationships with a child with cystinosis, and relationships with healthy children in the family.

You can get help handling the burdens of cystinosis. Please see the Resources & Support section to learn more about organizations and publications that offer support for individuals with cystinosis and their caregivers.
The journey to empowerment
Parents and caregivers can take steps to help children with cystinosis live fulfilling lives.

1

Explaining how medicine helps

Future problems (such as kidney disease and kidney failure) may be hard for children and teens to grasp. Parents and caregivers can help them think about long-term health, explaining the importance of taking medicine and what may happen when medicine doses are missed. For instance, missing doses today could lead to physical problems later in life.1-3,5,6 And that may affect future plans—such as playing sports, learning to drive, or getting a job. Parents and caregivers should also work with the healthcare team to find a medicine routine the child is able to follow.

2

Building self-reliance and self-esteem

With cystinosis, a child’s life may be filled with medical appointments, treatment schedules, and so on. But it’s important to encourage the “regular” things, too. Activities with the family, time with friends, and even doing everyday chores may all help children and teens build self-reliance and self-esteem. This can go a long way toward helping them grow into responsible, capable adults.

3

Preparing children and teens for self-care

As children grow into teenagers, parents and caregivers can help them learn about caring for themselves. For a teen, taking more responsibility for his or her own care is an important step to independence. A teen is already coping with the regular changes and challenges of growing up. At the same time, he or she is also becoming more aware that cystinosis is a lifelong condition. Parents and caregivers may want to seek advice from a social worker, behavior expert, or fellow member of the cystinosis community for help moving forward. Some ways to encourage self-care for teens include:

  • Explaining cystinosis and how it affects the body
  • Providing a positive view of how treatment helps
  • Working on a practical plan for staying on track with medicines

References

  1. Nesterova G, Gahl WA. Cystinosis: The evolution of a treatable disease. Pediatr Nephrol. 2013;28:51-59.
  2. Levtchenko EN, van Dael CM, de Graaf-Hess AC, et al. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol. 2006;21:110-113.
  3. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111-121.
  4. Cystinosis Transitioning Guide, Cystinosis Research Network website. Available at https://cystinosis.org/research/article-library/transition. Accessed August 20, 2015.
  5. Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: Natural history and effects of oral cysteamine therapy. Ann Intern Med. 2007;147:242-250.
  6. Brodin-Sartorius A, Tète M-J, Niaudet P, et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int. 2012;81:179-189.