The right treatment choices may help people with cystinosis manage their condition today and prevent issues in the future. Medicines such as cystine-depleting therapies (CDT) may help delay or limit cystinosis damage. Talk with your health care team to create cystinosis treatment plans that may work.
CDTs are medicines that work to lower the levels of cystine in the cells. Keeping cystine levels low is the main way to help limit or possibly delay damage to the body.
There are a number of FDA-approved CDTs, including oral and eye drop CDTs/formulations. They work to remove cystine from the body or the eyes.
*Oral treatments do not reduce or remove cystine in the eyes.
Careful daily management of cystinosis is key. Cystine is always being made in the cells, even when people with cystinosis look or feel fine. Taking medicines as prescribed may help keep cystine levels low throughout the day.
If a person delays, misses, or stops taking their CDT medicine, cystine levels may rise very quickly—in as little as three hours. This may cause damage to the body. One medical study showed that patients who took their doses on time had lower average cystine levels compared with patients who delayed dosing.
Cystinosis harms the kidneys, making it difficult for the body to absorb substances it needs and causing large losses of fluid through peeing (urination). Eventually, the kidneys may be unable to remove waste from the blood, leading to kidney failure. As the kidneys fail, dialysis or a kidney transplant is needed. Dialysis is a temporary treatment that does the job of the kidneys by removing waste from the blood.
CDT may delay harm to the kidneys and possibly delay the need for kidney transplant. After a kidney transplant, it is important to keep taking CDT to protect the rest of the body from cystinosis. It’s also important to take the medicines prescribed to help keep the body’s immune system from rejecting the transplanted kidney.
Talk to your doctor about making a treatment plan for after the kidney transplant, including daily CDT and medicines for protecting the transplanted kidney.
Whether this is a first kidney transplant or there has been one before, use this guide to feel better prepared and informed.
Managing cystinosis is key to living the fullest life possible. The best way to do this is to take steps that may delay or limit cystinosis from damaging the body. And the only way to possibly delay or limit damage is to keep cystine levels low.
One of the hardest things about managing cystinosis is staying motivated to prevent future health issues. This is particularly true when a person is feeling fine. In fact, people can’t feel the cystine building up in their cells. Instead, cystine buildup slowly damages the body and may lead to more serious issues over time. That’s why it’s important to keep cystine levels low—not just now and then, but all the time. Making cystinosis management goals and sticking to them may help.
Work with the doctor and health care team to define cystinosis management goals. And stick with them. Start by:
Learning about the disease
Knowing the treatment options
Creating a treatment plan
Sticking to your treatment schedule
Tracking your progress
You know it’s important to manage cystinosis every day, but you also know how challenging it is. Fortunately, others living with cystinosis and caregivers may help. People like you understand the challenges of cystinosis better than anyone else. Contact an advocacy organization to meet other cystinosis patients and their families. And be sure to follow Cystinosis United on Facebook for weekly tips that may help you manage the disease.
The secret to tracking how well CDT is working is regular cystine level testing.
Cystine level testing measures the amount of cystine in white blood cells (WBCs). Along with carefully following a treatment plan, routine testing is key.
Testing is the only way to know a person’s cystine level, and tracking cystine levels over time helps to determine how well CDT is working. Knowing a person’s cystine level will help a doctor decide if a dose needs to be adjusted. Having the correct dose is the only way to help delay or limit damage to the body.
*Testing recommendations are for patients who are at target dose and/or WBC cystine levels.
There are two types of cystine level tests. They measure cystine levels differently.
It’s important to work with a doctor to decide which cystine level test is right for you. Always know which test is being taken, as the results you receive will differ depending on which test was taken. The two tests cannot be compared to each other. The same test should be taken each time to help compare test results over time.
In people with cystinosis, cystine levels usually change based on the time of the last dose of CDT. It’s important to have cystine levels tested at the right time to get useful test results. Ask your doctor what time of day to get cystine levels tested.
To get the most out of treatment, people with cystinosis need to take their CDT regularly. It’s very important to take the medicine at the same time every day and every night. Even the slightest delay may cause cystine levels to rise.
Testing kits are being offered at no cost. Plus, there is an instructional video to show people with cystinosis, doctors, and lab employees the correct way to use the kit.