To read part one of this story on cystinosis, click here.
Briana and Ashley are two adult women from opposite regions in the United States. Briana lives close to her parents, who only become involved in her ongoing care if asked. This is because her husband supports her care when she needs it.
“I feel like as an adult now with cystinosis, it’s not that I feel better when compared to my childhood, but I have learned how to deal with it better as an adult,” she says.
Briana also compares her experiences with doctors unfamiliar with her diagnosis when she was a child, and how those physicians react to her as an adult with complicated health issues: “The doctor I had as a child knew about cystinosis and I had a say in what was done with my health. [My doctor responds the same way to me now as an adult.] The only difference I feel is other doctors now tend to not want to always listen to me.”
Ashley is an active writing advocate and an avid outdoorswoman. The cystinosis community occupies a special place in her heart. As she grew into adulthood she noted, “Doctors are less interested in innovating when it comes to adult treatment, and I’m much more ‘dismissed’ even when treatments aren’t helping. They say, ‘well, that’s the standard treatment for people with your condition, and we don’t know what else to do’. It’s a sad state of affairs. Doctors shouldn’t feel limited just because research is.”
In the world of rare disease organizations, being a child living with cystinosis grants a lot of forgiveness in the areas of missed class time, missed activities, and lots of hospital and rehabilitation time. Rightfully so, as many of the procedures for quality of life with this illness happen between the age of diagnosis (typically 6-24 months) and 18. It’s okay if the children languish in a hospital bed, but fanfare ceases once an adult with cystinosis has their life interrupted by surgery, kidney transplants, dialysis, and prolonged treatments.
When the faces of those charming children become moon-shaped from prednisone; their excited voices become crackly from muscle wasting; the crookedness of their legs more pronounced from bone and muscle weakness; their bodies begin needing wheelchair access; or another kidney transplant is needed, the adults are no longer children suffering with the disease being heralded as inspiration.
Dr. Goodyer says strict adherence to six-hour cysteamine therapy is difficult for many living with cystinosis. A delayed release form of cysteamine is currently available in the U.S., allowing patients to take it every 12 hours instead. The side effects of cysteamine can be harsh. Twenty percent of patients report stopping treatment for various lengths of time, according to data from the international CureCystinosis registry.
Adults who deal with side effects from cysteamine or cystinosis disease progression understand treatment is different than a cure. They understand side effects of drugs versus treatment of disease. Paid working adults cannot take extended breaks, and relationships require time and energy to maintain.
While cysteamine doesn’t reverse the effects of disease, it does prolong function of organs, muscles, and bones. The actual progression of failing organs, bone fragility, and muscle wasting may shorten lifespan but can result in minimal pain and distress depending on the patient. Treatment side effects can physically and mentally feel worse for some patients, even though length of life is prolonged.
Cysteamine can cause stomach pain, nausea and vomiting, bowel irregularities, migraines, and depression. With their children, parents and caregivers look to a future lived beside their offspring and oversee daily success in their child’s compliance by maintaining regular dosing. When an adult living with cystinosis considers financial success or living independently of family of origin more important than consuming treatment inhibiting their lifestyle, many in the rare disease community inflect negative judgment on the older patient.
And this is truth; research is limited on the effects of cystinosis and treatments many use to slow down disease progression on the adult body. Because of the smaller pool of adults living with cystinosis, volunteers for medical testing and doctors expressing interest in the ongoing effects of rare disease in an aging body is limited.
Global Genes considers a condition to be rare if it affects fewer than 200,000 people. Cystinosis affects approximately 2,000 people worldwide. Global Genes has also estimated 50% of rare diseases do not have an organization or foundation comprised of physicians, pharmaceutical representatives, medical industry, and donors supporting them.
In the United States, cystinosis has three such organizations raising funds and awareness. However, the ongoing issues of health insurance for adults, transition from pediatric care to adult care, and emotional and mental support still remain areas in great need.
Ashley wrote to me about her feelings attending cystinosis conferences sponsored by the United States’ rare disease organizations:
“Growing up, I was never comfortable with being the miracle child or exceptional simply for having cystinosis.”
“I wanted to be exceptional for some skill, not for survival or some condition. But of course, being the miracle child did mean I got a lot of medical attention…I do feel like being a miracle child carried over into adulthood—for a brief period in my 20s, I basked in the limelight of miracle adulthood, at least within the cystinosis community.”
She continued, “It felt downright insulting to have people say, ‘I hope my child grows up to be just like you,’ when all they knew about me was my age, employment status, and marital status. Why shouldn’t people with cystinosis be married or employed? Are we inherently undesirable, poor workers? Furthermore, what about the people with cystinosis who aren’t married and don’t work—how dare we determine someone’s worth based on things so shallow. But too often people (myself included) don’t bother getting to know the deeper characteristics worth desiring for our growing children. So I’ve preferred not being the miracle anything, though of course I believe life is a miracle. It’s not miraculous for the reasons people think.”