You have probably been hearing the word “cystinosis” for several years now. As you may already know, cystinosis is an ultra-rare condition that is usually diagnosed in childhood. But what is cystinosis really?

Cystinosis is a rare, multisystem genetic disease that accounts for nearly 5% of all childhood cases of kidney failure. Cystinosis occurs in only about 1 in 100,000-200,000 children, so it is not widely known nor understood.

Learn more about how Cystinosis by selecting a subject from the list below.

Cystinosis Overview

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You have probably been hearing the word “cystinosis” for several years now. As you may already know, cystinosis is an ultra-rare condition that is usually diagnosed in childhood. But what is cystinosis really?

Cystinosis is a rare genetic condition. A genetic condition means that it is passed down through families. Cystinosis leads to a buildup of cystine (a natural protein in your body) in a part of your body’s cells called lysosomes. As cystine builds up, it forms crystals that cause the cells to die. Eventually, these dying cells can cause damage to organs, including your kidneys and liver.

Over time, cystinosis leads to permanent kidney damage and kidney failure. Each person is different, and some people with cystinosis will develop kidney disease as a child or adolescent while others may not until early adulthood. As kidney disease gets worse and the kidneys lose the ability to function, your will need to start dialysis or have a kidney transplant to live.

Having too much cystine can damage different parts of the body (see chart below):

Cystinosis Damages Graphic

Cystinosis and your kidneys

Cystinosis leads to permanent kidney damage and kidney failure. Kidney failure means the kidneys are unable to remove waste from your blood. The extra waste builds up in your body and makes you sick. When the kidneys lose the ability to remove waste from the blood, there are two treatment options:

  • Start dialysis, a treatment that connects your body to a machine that cleans your blood

OR

  • Have a kidney transplant, a surgery that replaces your sick kidneys with a healthy kidney from someone else’s body

Kidney transplant is considered the best option for people facing kidney failure because it can increase your chances of living a longer, healthier life. Dialysis is not a permanent solution to kidney failure because it only helps your kidneys do one of the kidneys’ many jobs.

With cystinosis, it is highly likely that you will need more than one kidney transplant during your life. You may get a kidney transplant when your kidneys are close to failure, as a prevention measure before you need to start dialysis. It is also possible you may start dialysis while you wait for a kidney transplant. Kidney transplant surgery is considered safe and is usually very successful. However, as with any surgery, there could be some risks involved.

Preparing for Kidney Transplant

The kidneys are two bean-shaped organs, about the size of a fist. They are vital organs, meaning everyone needs at least one healthy kidney to survive. The kidneys have many functions, but their most important role is removing waste from the body by filtering your blood and eliminating waste through the urine.

Cystinosis can damage the kidneys over time, leading to kidney failure. Once the kidneys have failed, you must start dialysis or have a kidney transplant to live.

Kidney transplant

A kidney transplant is a surgery in which a healthy kidney is removed from a person’s body and given to someone whose kidneys are not working. Transplants can come from deceased donors (who have recently passed away) or living donors. No matter where the new kidney comes from, doctors test it to make sure it is safe and healthy for your body.
When your medical exams begin showing signs of decreasing kidney function, you and your family should start preparing for a kidney transplant.
The first step to getting a kidney transplant is working with your parents/caregivers to find a transplant center and schedule a transplant evaluation. Every transplant center requires different tests for a transplant evaluation, but all will include:

  • Tests of physical health (e.g., blood tests)
  • Psychosocial exam to make sure you are mentally and emotionally ready for transplant
  • Conversations with your family about finances and health insurance to ensure that you can afford the surgery

If the transplant team decides you are ready for transplant, the next step will be for your transplant team to help you find a kidney match from a living or deceased donor.

Remember, a kidney transplant treats kidney failure. It does not cure cystinosis. After getting a transplant, it is important to keep taking medicine for cystinosis to protect your new kidneys.

Types of kidney transplants

A deceased donor transplant comes from someone who has just passed away but had a healthy kidney.

  • Getting a deceased donor transplant requires being on a waitlist, which can be several months or years.
  • As soon as a deceased donor kidney match becomes available for you, you will get a call to come to the hospital for surgery right away, usually in a matter of a few hours.
  • To increase your chances of getting a transplant as soon as possible, you can get waitlisted at multiple transplant centers. If you are listed in multiple areas, you must be able to reach the center in a short amount of time if you are called. Check with each center to ensure that they allow patients who are listed at multiple centers.
  • Deceased kidney donor transplants last an average of 10 years but can last for a longer or shorter amount of time.

A living donor kidney transplant comes from living person who offers to donate one of their kidneys.

  • A kidney donor does not need to be a family member
  • The donor will need to go through medical testing to ensure they are healthy and a good match
  • If you can find a kidney donor match, you can schedule the date of the transplant surgery
  • Living donor kidney transplants last an average of 15 years but can last for a longer or shorter amount of time.

Benefits of a transplant

There are many things you may experience that you can look forward to after receiving a new kidney including:

  • Being able to eat some of the things you may have not been able to eat before
  • Eventually having to spend less time visiting the doctor
  • Experiencing a growth spurt if you are still growing
  • Having more energy to do the things you love
  • Ending dialysis

Did you know? Transplants last longer if you take care of your health and take all your medicine; including your cystinosis medicine!

Preparing for Kidney Transplant: You’ve got this!

Getting a kidney transplant is exciting, but it can also be a little scary. It is okay to feel nervous! Asking questions is one great way to feel prepared for the transplant surgery. You can use our question tool or write down your questions in a notebook to ask your transplant team. Examples of the type of questions you can ask include:

  1. Can I have medicine if I feel pain?
  2. Can I still play sports after the surgery?
  3. How long does the surgery last?
  4. How soon can I go home?
  5. Will I be fully asleep during the surgery?
  6. Will my diet change after the surgery?

Preparing for surgery

It is okay to be a little nervous about the surgery. There are ways you can prepare for it, for example:

  • Talk to someone who has gone through a transplant if you feel nervous or anxious. Your transplant team may be able to recommend someone you can talk to.
  • Consider reaching out to the Cystinosis Research Network (Cystinosis.org) to connect with peers who have gone through something similar. 
  • Always let your care team know if you have questions or need anything before or after the surgery.
  • Bring a book, laptop/tablet, or video game to help pass the time.
  • Bring your favorite pillow or cozy blanket from home.

Consider schooling options

After the transplant surgery, you will need time to recover at home and temporarily avoid crowded places with lots of germs, like school.

  • Talk to your parents about what schooling options are available and decide which option you prefer.
  • You may be offered the options of home schooling, online learning, home visits by a teacher, or virtual classrooms. 

Life After Kidney Transplant

Emotional Health After Transplant

Getting a transplant is usually an exciting event, but because it is also a major life change, it is normal to feel a mix of emotions afterward. If you feel anxious, depressed, scared, stressed, or unhappy, please know that you are not alone. Many people who receive transplants experience these feelings at first, for many different reasons.

After transplant some people experience:

  • Changes in mood, which can sometimes be a side effect of the immunosuppressant medicine you are taking
  • Feelings of stress or anxiety about your new lifestyle
  • Guilt about getting a kidney from a living or deceased donor
  • Family members that have emotional changes as they adjust to your new lifestyle

You do not have to deal with these feelings alone. Getting a kidney transplant is a major life change, and it is okay to feel stressed and anxious about events that change your life.

You have been through a lot after living with cystinosis for so many years. Sometimes it is not possible to deal with everything alone. Reach out to your family and friends when you need to talk.

There may be times when you do not want to talk to someone you know or would rather talk to someone new. Tell your parents or social worker that you would like to be connected to a counselor. Also, let your transplant team know about your emotional changes so they can help support you and adjust your medicines if needed.

Your transplant center may host local support groups in your area. You can also join other trusted support groups to talk to people who have been in your shoes:

If you believe you are experiencing depression, anxiety, or having thoughts of self-harm, call:

National Alliance on Mental Illness: 1-800-950-6264
or
National Suicide Prevention Lifeline: 1-800-273-8255

Remember, you are not alone!

Living your Best Life with Cystinosis

Everyone deserves to live their best life, including you! As a young person, you have your whole life ahead of you, so here are some ways to make the most of it:

  • Advocate for yourself – help others learn more about cystinosis and what they can do to help.
  • Find a hobby – start doing something you enjoy and find interesting, like photography, painting, cooking, campaign, biking, writing, dancing, or playing an instrument.
  • Help others – give back to your community and those in need by volunteering.
  • Make new friends – surround yourself with supportive people that make you happy.
  • Play a sport – find one that you enjoy, and your doctor approves of.
  • Practice positivity – a positive attitude is key to success; try meditation, mindfulness, or positive affirmations.
  • Set goals – whether you want to go to college or start working after high school graduation, set high goals for yourself.
  • Share your story – inspire and motivate others by sharing your journey.
  • Support causes you believe in – whether it is animal cruelty, equal rights, or the environment, take a stand.
  • Participate in advocacy – advocate for legislation relating to cystinosis or kidney disease in general. Anyone affected by kidney disease can join the American Kidney Fund's advocacy network, where you can work to make a difference in the lives of others.

Talking to others about cystinosis

It can be frustrating or awkward having to explain your condition to people all the time. Remember: cystinosis does not define you as a person, and it is only one part of your life. If you feel comfortable sharing your diagnosis with others, then keep it up! If you need some time before opening up to others about your condition, then that is perfectly okay and very normal.

If you do decide to tell other people about cystinosis, here are some tips to help you have the conversation:

  • Explain the basics of cystinosis. It will be easier for others to remember key points rather than a lot of detailed information at once.
  • Let others know that you take care of yourself by taking medication and seeing a doctor.
  • Inform others that you do not want to be treated differently (if that is the case).
  • Be honest about what you might not be able to do and tell others what you can do instead.
  • You do not have to answer every question if you do not feel comfortable. Instead, you can direct others toward resources like the American Kidney Fund or Cystinosis Research Network to get more answers.
  • If you do not want to talk about cystinosis anymore, steer the conversation in a different direction.

Let's take these tips and see what they would look like in a real-life situation.

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You can practice roleplaying different scenarios with someone you trust in order to feel more comfortable handling real-life situations.