How Do You Live With An “Orphan” Disease?

Have you ever wondered what it is like to live with an “orphan” disease like cystinosis?


It is difficult but it is an amazing journey. The following information will help you understand what a person living with cystinosis must go through while growing up.

Cystinosis is a rare disease that primarily affects children. It is a rare genetic disorder in which continuous cellular accumulation of the amino acid cystine rises to toxic levels, resulting in irreversible tissue and organ damage if left untreated even for a short time. Cystine crystals accumulate in the kidneys, eyes, liver, muscles, pancreas, thyroid, brain, and white blood cells. Without treatments, children with the disorder develop end stage kidney failure at approximately age nine.

Cystinosis is treated symptomatically and ongoing, which makes it possible for patients (us) to live longer lives. Consistent care is essentialeven when the patient (we) look or feel fine. The disease does not rest. If a patient delay, miss, or stop taking medicine, cystine levels can rise very quickly. The damage caused by toxic levels of cystine cannot be reversed. *A kidney transplant is not a cure for cystinosis.*

MYN90450The following are ways cystinosis is treated:

  • High intake of fluids and electrolytes to prevent excessive loss of water from the body.
  • Sodium bicarbonate, sodium citrate, and potassium citrate may be administered to maintain the normal electrolyte balance.
  • Phosphates and vitamin D are required to correct the impaired uptake of phosphate into the kidneys and to prevent rickets.
  • Cystagon or Procysbi (cysteamine bitartrate)cystaran_374803
  • Cystaran (cysteamine eye drops)
  • Kidney transplantation

The disease first affects the kidneys and it is a primary concern to ensure they last as long as possible.



The kidneys are fist-sized organs, shaped like beans. They act as filters to clean waste (what’s left over from breaking down from food and your body’s other activities) from the blood. In addition to removing wastes from the bloodstream, the kidneys also make and regulate hormones and chemicals in the body. When the kidneys are not working correctly, the body can develop several problems, including: fatigue, bone problems, sleep problems, and anemia.

Dialysis may be needed if a donor kidney is not available, or if a kidney transplant fails. Dialysis serves as an artificial filtering system that mimics a person’s kidneys by removing waste from the blood.

microbeadsCystinosis patients (we) are now living longer lives because of the new treatments and advancements in medicine. Living longer means that cystinosis patients must transition from pediatric care to adult care. As a patient myself this is excellent news because we had have only a 20 year life span, now we have a 50 year life span. Once they become adolescents they must learn about treatment options, know their medications and side effects from those medications.

C._Everett_Koop,_1980sThis period is known as “transitioning,” which was inspired by Surgeon General C. Everett Koop. He described it as the “one major issue” for chronically ill adolescents that had not been adequately addressed by the healthcare system.

A consensus statement from pediatric and adolescent health professionals in 2002, in the journal Pediatrics defined the goal of transition:

“To maximize lifelong functioning and potential through the provision of high-quality, developmentally appropriate healthcare services that continue uninterrupted as the individual moves from adolescence to adulthood.”

There are many factors that affect the overall well-being of adolescents with cystinosis:

  • Medical/physical concerns
  • Psychosocial functioning
  • Long-term disabilities
  • Multiple hospitalizations
  • Treatment compliance
  • Comorbidities such as gastrointestinal complications with possible swallowing problems.
  • Hypertension (elevated blood pressure)
  • Photophobia (lights hurting the eyes) due to corneal crystalscystinosis
  • Visual impairment due to retinopathy (involvements of the back of the eyes)
  • Metabolic bone disease with skeletal deformities as consequences of rickets
  • Persistent polyuria (large urine output) in pre- and post- transplant patients
  • Endocrine involvement including diabetes and hypothyroidism (low thyroid function)
  • Various degrees of myopathy (muscle involvement) affecting strength
  • Delayed puberty (sexual maturation)
  • Male hypogonadism (low male hormone levels) and infertility (inability to conceive)


The transition process that Koop spoke about is broken down into three stages by their age. Early adolescence (12-15), late adolescence (15-18), and young and “emerging” adults (19-25).

cysteamine-bitartrate-figure-3In early adolescence, cystinosis patients (we) begin understanding their medications and taking responsibility. They should recognize what their medications look like and should be able to tell their parents and healthcare team the following:

  • Name of each medication
  • Dosage and schedule for taking each medication3aab3b39-52b6-4a79-9a5c-7baa7574f24f-03
  • Purpose of each medication
  • Side effects of each medication

Cystinosis patients (we) have the unique role of being their own advocates, and at this age they should learn how to self-advocate. Advocating for themselves will be crucial as they face many circumstances where they need to stand up for themselves in the healthcare field and in general. Parents should encourage children to practice self-advocacy while still supporting them in their decisions.

Often children and young adults with chronic illnesses may be hidden victims of bullying.

These are some potential bullying warning signs that we all should look for:

  • Loss of interest in school and extracurricular activities
  • Frequent complaints of illness to avoid attending school
  • Sudden decrease in academic performance
  • Few or no friends with whom he/she spends time with
  • Unexplained bruises, scratches, and cuts
  • Fear of going to school, riding the bus, walking to school, or taking part in organized activities with peers
  • A preference for a long or illogical route to school
  • Increased moodiness, sadness, or depression
  • Loss of appetite
  • Trouble sleeping
  • Anxiety or low self-esteem

Going to school with any illness can be daunting, especially with a serious “orphan” disorder. Cystinosis patients and their parents should not be intimidated by the “educational professional,” and the school administrators should NOT be intimidated by the parent! Patients and parents should NOT let teachers, support staff, or administrators tell them that a request is “impossible.”

Navigating the school system can be difficult living with cystinosis, and communication is key for parents and patients. Parents should get to know key individuals – including a child’s principal, guidance counselor, nurse, psychologist, social worker, AND ALL teachers (including those who teach special classes like art and physical education) as the school year begins. Parents should provide the school with packet of information about cystinosis.

Honesty is the best policy. Not sharing information does not allow understanding, and can create problems. Encourage school staff to ask questions. Urge them to ask questions, both academic and medical.

Cystinosis patients (we) are constantly faced with difficult situations, therefore young patients need to build a self-confidence. Building self-confidence is imperative for them. Having a self-confidence can help patients think positively and deal better with the daily stresses of having cystinosis.

Here are some ways that can be used to help build self-confidence:

  • Set standards for independence
  • Focus on building confidence, resilience, and strong communication skills
  • Recognize their child for doing a good deed, doing well at school, or completing a goal.
  • Point out their child’s strengths
  • Applaud their child’s efforts to improve on an activity he or she enjoys (even if it’s not the parent’s favorite!)
  • Listen to their teen when they speak and use open-ended questions rather than ones that require only a yes/no response

During transition, these young patients should spend a few minutes talking privately with their healthcare team at the beginning or end of each visit. This can help them feel more in control of their life and the cystinosis. They should start siting in (or picking up the phone) when their parents are making medical appointments or calling for prescription refills.

Sample Questions to Ask Your Medical Team

  • At what age does transition happen at this hospital?
  • Are there teen- or young adult- specific clinics?
  • Who will help coordinate the transition?
  • Do you have adult specialists that you recommend?
  • Why do you recommend them over others?
  • where are specialists located?
  • How will we meet them?
  • Do we need referrals?
  • Are there adult physicians/specialists who are knowledgeable about cystinosis?

Cystinosis patients face a unique set of stressors.

The disease can interfere with the patient’s comfort in moving toward independence and their parents may be resistant to a patient’s efforts to become independent.

  • In these situations the parent’s job is to provide information and resources to help adolescents think and live as independent adults.
  • One difficult, however necessary job of the parent is to seek a balance between “normal” adolescence and the unique healthcare needs that cystinosis patients (we) face.
  • Parents should start involving their teens in all health-related discussions (treatment choices and current concerns about their illness).
  • Work together, the patient and parent to teach self-care skills related to the patient’s illness (from medications to calling the pharmacy or scheduling doctor’s appointments).
  • Work on the development of coping skills to address problems or concerns that may arise related cystinosis.
    • Talking to friends about cystinosis
    • Participating in support groups
    • Expressing frustration or anger when needed
    • Using humor to defuse frustration or anger
    • Researching a problem
    • Participating in social support or religious activities

Medications are vital to cystinosis patients (our) survival. If they miss a dose of cysteamine or anti-rejection drugs, it could damage their health. Over time this can lead to the progression of the disease and rejection of the transplanted kidney.

  • Think about how much privacy is important to them when taking their medications
  • The patients need to speak honestly with their parents or their healthcare team if there is a problem with taking medications – whether because of side effects, a busy schedule, or sheer frustration. There may be options that could make things easier.
  • Parents need to understand that their teen will be taking many medications, to control cystinosis and to protect a kidney transplant.
  • If a cystinosis patient illness reaches an unstable state due to “nonadherence with treatment recommendations,” parents and healthcare teams should aim for discussion of what’s happening rather than arguing or punishment. The parent and healthcare team should decrease their frustration and replace it with support. 
  • Both the parent and the healthcare team should be honest about the results of not adhering to medication schedules, but avoid scare tactics. 
  • Communication is vital between the parent and patient. Talk about what the nonadherence is really about – taking medications can be a burden, it may interfere with social activities, the side effects may be too troublesome, etc.
  • Parents should know that not taking medications can also be a way of “acting out,” which other teens might express with skipping school, using drugs or alcohol. This can be a way of expressing rebellion or a way of trying to feel in control. The parent and patient must work together as a family and with the healthcare professionals to find a treatment plan that works for the young patient.


Cystinosis patients (we) must learn coping skills to deal with the side effects of Cystagon or Procysbi. These patients (us) cannot stop taking these medications. Cysteamine bitartrate is the lifeline for individuals with cystinosis. Cystinosis patients may often feel many side effects from their medications, especially the cysteamine bitartrate. As these patients reach adolescence and young adulthood, it becomes frequently tempting for them (myself included) to skip taking the medication due to the side effects, social concerns, and self-conscious feelings from the drug’s odor, and complications such as gastrointestinal distress.


Cysteamine bitartarte is vital, without it , the cystinosis will take its natural course, and more complications of the disease can happen at an accelerated rate. Patients may not be immediately aware of the damage to their health.

Living with any illness is difficult, being a teenager as well, makes life even more so. If a teen or young adult has five or more of these experiences, he or she may need more intense and immediate support than just talking with a friend or family member:

  • Feeling sad all or most of the time
  • Fast to get angry
  • Lose of interest in activities that were formerly enjoyable
  • Sleeping too much or too little
  • Missing school frequently or drop in grades
  • Worrying about being rejected or not doing something well
  • Feeling anxious and shaky
  • Feeling worthless or guilty
  • Feeling isolated; avoiding or not having friends
  • Having problems concentrating
  • Thinking about running away from home
  • Deliberately skipping medications

Parents and or patients should talk to your healthcare team and seek help if:

  • The patient seems overwhelmed with emotional issues related to living with a chronic illness. This could take the form of extreme sadness/depression, anger, or isolation/withdrawal
  • A pattern of “nonadherence,” or risky health consequences occur. Not taking Cystagon or Procysbi can result in the development of cystine buildup in all organs over time. Not taking immunosuppressants can result in acute rejection of a kidney very quickly, or cause a slow decline in kidney function due to chronic rejection. Sabotaging their health can become a powerful way to get attention or act out.

Young cystinosis patients must grow up learning all of the experiences of being a teen while they must learn how to take care of their health. 

  • These patients should spend a day or weekend independently preparing and taking medications and eye drops – without parents reminding them. Set up their own medication box for the week.
  • Parents should work with patients to start exploring academic and work interests that they want to pursue after high school.
  • Patients should keep a journal or write when they feel strongly about something. Write an essay about the best and most challenging things they have experienced (which might have nothing to do with cystinosis).
  • Patients should practice and try out different ways to tell “their” story may be useful for college and scholarship applications, or enable them to be an advocate for a cause they care about.

As cystinosis patients (we) become adults, they face many new challenges such as: furthering their education, exploring career paths, forming relations, experiencing different living situations, and dealing with car, home, and the big one health insurance.

Some call this age group young or “emerging” adults (18-25).

Jeffrey-Arnett-150“Emerging” adulthood – coined by researcher Jeffrey Arnett, Professor in the Department of Psychology at Clark University in Massachusetts, which used the term to describe the experience of 18-30 year olds. They are sometimes called millennials. They are unique, because in the United States and Europe, the years were once  thought of as a time of settling down, starting jobs, and building families; now it is a time of extended exploration, trying out educational and career paths, traveling, forming relationships, and experiencing individual living situations.

Consequently, growing up with cystinosis, young adults usually are eager to become independent and might be anxious about what lies ahead for them. They may also be facing challenges that their friends or healthy family members are not experiencing.

These young patients:

  • Negotiating what it means to them to be independent
  • Allowing friends and family to provide help to support when needed
  • Traveling, studying, moving away from home
  • Making educational and work choices
  • Taking complete (or more complete) responsibility for their health and health care

The following is a couple quotes by some cystinosis patients.

“Generally I’m pretty happy with my life . . . but it’s so much harder than anyone realizes.”

“It [cystinosis] totally affects how I feel about myself – for the best. I am proud of all that I do in spite of cystinosis. It gives me a story of triumph and hopes to share with others.”

Relationships and dating are even  bit more unique for individuals with cystinosis.

Just listen to these patients.

“An important issue is the smell of Cystagon. As I’ve talked with some of the young adults in our community. I’ve found more than one person who has stopped taking Cystagon when embarking on a serious relationship. You cannot talk about dating without approaching the subject of close contact, kissing, etc. and Cystagon. Quite frankly, if you’re with someone who is going to make a stink (no pun intended!) about your lifeline, he or she isn’t worth it.”

“I usually shared on the second or third date. My feelings is that if he doesn’t stick around, then he is not the kind of person I would want to be with anyway. One time, I waited too long, and they guy bolted shortly after I told him. Although he didn’t admit it, I felt that was why. By then, I was more attached, so naturally it hurt more.”

The Future

Sexual Reproductive Health and Cystinosis

by Dr. William A. Gahl and Dr. Galina Nesterova, National Institutes of Health (NIH)

Adolescents and young adults with cystinosis are faced with a challenge of sexual maturity and reproduction. If cystinosis is untreated people nearly always exhibit late sexual maturation (puberty).

Cystinotic males reach puberty at about 16-17 years old, and may demonstrate a primary decrease in testosterone (the hormones produced by the testes) due to cystine accumulation in the testes. Poorly treated males exhibit high levels of luteinizing hormone and follicle stimulating hormone (other hormones needed for sexual maturation), as compensation for the low production of testosterone by the testes. Male patients benefits from testosterone supplements to restore secondary sexual characteristics such as facial hair growth, muscle mas, and increase in testicular (testes) size.

The ability to have an erection (ability to have sexual life) apparently remains intact, no cystinosis patient is known to have fathered a child.

Cystinotic females poorly treated reach puberty at about 14-15 years old. Ovulatory cycles and gonadal endocrine parameters are normal in females, and several successful pregnancies and deliveries have occurred in women with cystinosis; the children have all been completely normal.

It is recommended that women with cystinosis withhold cysteamine therapy when trying to conceive or during pregnancy. Currently, there is no data o the teratogenic effects (risk of birth defects) of cysteamine in humans.

*Adapted by Mika J. Covington to fit word limit.

Cystinosis patients face challenges when it comes to education.

They have many doctor’s appointments, lab visits, and sometimes hospitalizations all forcing them to miss school.

The Rehabilitation Act of 1973 (Section 504) and the Americans with Disabilities Act of 1990 (Title II) prohibits discrimination based on disability. “Disability” can include “invisible” conditions like cystinosis, and includes more “obvious” disabilities such as vision problems, learning disabilities, difficulty walking, etc.

Universities and colleges are required to have an Office for Students with Disabilities (actual names will vary). Cystinosis patients should consider documenting their health condition with their educational institution. However, if the patient doesn’t document their healthy condition ahead of time, their professors and administration will not be required by law to make special exceptions.

Additionally, new federal regulations, require insurance offered by universities and colleges to offer the same coverage as commercial plans – such as not imposing limits on lifetime costs or pre-existing conditions.

Go here for more information:

Employment and Insurance with Cystinosis

Cystinotic individuals entering and who are in the workforce may experience a variety of issues and concerns. Career choices for young adults with cystinosis should be based on their intellect, ability, interests, and life goals. These individuals (us) are not limited in choice of employment and work in a variety of professional and technical jobs.

How should cystinotic individuals handle interviews? First, they should understand all the state and federal laws related to questions that the employer can legally ask ( or

Should an applicant disclose information regarding their cystinosis at the interview? Usually, no. Sharing this information about their cystinosis can put both the interviewee and the employer in a difficult position. The decision to hire should be based primarily on the individual’s ability to perform the tasks of the job.

Health Insurance

Health insurance is confusing for most people, especially for people dealing with a serious illness. Cystinotic individuals will need to have a vast knowledge about health insurance. They should have the answers to these questions:

  • Does the plan cover your prescriptions (anti-rejection, Cystagon, Procysbi)?
  • Are your medications (anti-rejection, Cystagon, Procysbi) on the “formulary” or must they be ordered through as specialty pharmacy? Will you have to pay out-of-pocket for specialty pharmacy orders?
  • Is there a mail-order option? Cystagon, Procysbi, and Cystaran will likely require extra steps.
  • Does the plan permit you to see the providers you already have established relationships with and allow you to be hospitalized at the medical center of your choice ?
  • What does it cost to go “out-of-network”?
  • For medications that may not be FDA approved, what will be the cost to you?


Cystinosis patients should understand the basics of the many laws that assist them in the workplace and with their health insurance. Go here for additional information:

The following are brief descriptions of some of those laws:

  • Section 2714 of the Affordable Care Act of 2010 (ACA aka Obamacare), requires all plans offering dependent coverage to allow individuals up to age 26 to remain on their parent’s health insurance.
  • Section 2301 of the Reconciliation Act of 2010, includes a requirement for existing health insurance plans to provide coverage for adult children up to age 26 and eliminates the requirement that adult children be unmarried. The extension also means that adult children do not have to be in college full-time to maintain under their parent’s coverage. The following is a resource for information is the Commonwealth Fund (
  • Consolidated Omnibus Budget Reconcilation Act (COBRA) of 1986, allows you to continue your insurance coverage for up to 18 months through your employer if your job is terminated or your hours are reduced (
  • Americans with Disabilities Act (ADA) of 1990, requires that employers to provide reasonable accommodations for individuals with disabilities who can perform the essential functions of the job (
  • Ticket to Work and Work Incentives Improvement Act. If you receive Social Security Income or Social Security Disability Benefits, This law may allow them to work and continue some of their insurance benefits. It also has a voucher system, where they can gain rehabilitation and other services to assist them in getting a job (


*This blog post is dedicated to all those fighting “orphan” diseases including my sister Mary Covington, who like myself lives with cystinosis.


This blog post used information from an amazing resource, “Bridge to the Future,” a transition guide for teens and young adults with cystinosis and their families, created by the Cystinosis Research Network. Additional information used within this blog post came from the website I, Mika J. Covington, take no credit for collecting and putting together any of the information herein. However, I, Mika J. Covington, do take credit for the addition of my opinions and summing up some of the information here within this blog post from the sources listed above.


My Journey with Cystinosis & I am a Survivor

Here I am in the hospital sick because I have Cystinosis!
Here I am in the hospital sick because I have Cystinosis!

I am Mika Covington, I’m 22 years old, and I have Cystinosis. I was born with this disease and diagnosed around age 10 months. Cystinosis is a metabolic disease that causes cells to crystallize causing early cell death. This happens because amino acid cysteine gets into the cells, but has no transporter out. Cystinosis slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and the brain. Cystinosis has always been a struggle for me and my family and friends. My disease has caused a lot of trauma to myself and my family and friends. I know that it must have been very difficult for my family to learn that their child has an incurable disease that will eventually take their life. I personally cannot comprehend how they could have handled getting that news.cistinosis_-432x300

My family first learned of my disease from the University of Nebraska Medical Center (UNMC) Nebraska Medical Center where they took me to try to figure out what was going on with me. Before they took me to the UNMC they took me to many different hospitals in the Omaha Metro area. UNMC was the one to diagnose me with Cystinosis because one intern happened to read an article talking about a mysterious disease. Nevertheless, at the time UNMC did not know exactly what to do with me and said that they did not think I would live much longer then about 6 years old.

250px-NIH_Clinical_Research_Center_aerialLuckily, because of that intern my family heard about the trial going on at the National Institutes of Health (NIH) in Bethesda, Maryland with Dr. William Gahl. During the trial, I started taking oral Cysteamine four times a day, and later I began doing the Cysteamine eye drops that are taken every hour while awake. Moreover, of course many other medications for all the different problems that come with Cystinosis, like low sodium, potassium, phosphorus, protein, and excessive thirst.

Now, I would like to fast forward to when I started dialysis because I finally went into end stage kidney failure (ESKF). I started dialysis at the end of May in 2011. I first started on hemodialysis. Hemodialysis is a form a dialysis that is usually done with a cardio catheter placed in the chest that is used as a port to cycle blood into a machine that cleans the blood and returns it. If you are doing a long-term hemodialysis, a surgeon will create a port in your arm or leg called a fistula or graft to do dialysis. It is kind of like creating a thick vein to use to access the blood. I personally was on hemodialysis for a little over a year and then switched to peritoneal dialysis. More on that later.

However, before I started hemodialysis in 2011; I was being worked up at the University of Nebraska Medical Center (UNMC) Lied Transplant Center to get on the waiting list for a cadaver kidney (dead person kidney). I did pass all of the tests and was placed on the list as of March 2011. Then I started to look for living donors. I found Jon von Kampen who happened to be a match. Therefore, we set up a surgery date but eventually were unable to do the transplant at the UNMC Lied Transplant Center.

PD Cycler
PD Cycler

Therefore, I would be on dialysis longer and I did not like or do well on hemodialysis. That is when I concluded that maybe peritoneal dialysis would be a better choice for me. Therefore, in February of 2012, I was set to have a PD catheter place in my abdomen. Then in March of 2012, I started peritoneal dialysis. This form of dialysis was the best for me. I got many parts of my life back and was able to become more politically active once again. I liked it a lot. I also felt better on PD.

My journey would soon take a major turn. The summer of 2012, I met Amber Tracy a Field Organizer from Organizing for America (OFA) or the Obama Campaign. She invited me to a couple of events she was holding at the college I was attending for political science and psychology. After she became to know me a little more and all of things I was doing and active in. She recommended 398777_10150940759848430_1366498105_nthat I apply to become a Summer Fellow (intern) at OFA. I agreed that would be fun and a great learning experience and so I applied and came to Council Bluffs, Iowa to first volunteer on the campaign until I was accepted and interviewed for the position. Once, I was accepted, I began doing a lot of work to elect the President. I organized house parties and other events like our Equality night. I made many calls talking to voters about what President Obama has done for the State and me and why they should consider voting for him. I also had the chance to go to Des Moines, Iowa to see the President of the United States of America speak to a crowd of supporters at the Iowa State Fair Grounds where I was able to stand on the stage behind the President. During this entire time, I was doing Peritoneal Dialysis four times a day. The Obama Campaign even arranged for me at the President’s event to get dialysis done before he spoke. They were so considerate of my condition and me.

University of Iowa Medical Center
University of Iowa Medical Center

During my time in Council Bluffs, Iowa working with Organizing for America (OFA), I started looking into the University of Iowa Hospital and Clinics (UIHC) to see if I could possibly get on the transplant list there and maybe get a live donor kidney transplant. I did a bunch of research on the hospital and their transplant team and then I finally decided to call them and get a packet of information and paperwork to fill out.

In September of 2012, I was set to go to Iowa City, Iowa to be worked up at the UIHC Transplant center to see if I could be placed on their transplant list. I did pass and was placed on their list the following month, then set out to find another living donor. I sent out about eight packets of information to people who expressed an interest in donating their kidney to me. Out of the 8 packets only 3 where returned and only one was chosen to come to Iowa City, Iowa to be worked up to see if they were a match. That donor was a match but was eventually denied by the committee to donate and so I had a choice to make, send out more packets or see if Jon was still interested in donating.

Luckily, Jon von Kampen was still interested in donating his kidney to me. So, he filled out the packet and sent it in to the UIHC Transplant Center. They immediately saw that he was a match because he was the original donor when I was at the UNMC Lied Transplant Center. Within a month or so Jon was called and asked to come to Iowa City to the UIHC Transplant Center to have some tests done to make sure he was still able to donate. Later of course, Jon was ruled able to donate his kidney and so they scheduled the transplant for May 30, 2013.

Last month, Jon, I, and our families went to Iowa City, Iowa to the University of Iowa Hospitals and Clinics (UIHC) Transplant Center to have the kidney transplant. We arrived at Iowa City a day before our pre-operative appointments because it is about a 4.5-hour drive to Iowa City. We both passed all our tests well and went back to hotel to wait until 5am the next morning to go in to have the surgery.

10250On the morning of the surgery, we all had to get up very early in the morning to get to the hospital by 5:30am, Jon’s surgery was scheduled for 7:15am, and mine would be about 20 minutes after. My surgery took about 5 hours to finish.  The staff at UIHC was wonderful to both Jon and I. Once I was moved to stage 2 right before they took me to the operating room the family started taking photos of me while I was waiting. The staff was able to get the IV started very easily. The staff also explained everything to me and I understood what was going to happen before it happened. After the staff explained everything they rolled my bed out of the room on our way to the operating room. They kept me calm and relaxed almost the entire time. When we got to the operating room they started to give me more medications, got me up on the table, and then started to put me to sleep.

After the surgery and after they had me in recovery for awhile, I finally wake up with the new kidney that I named Serenity and Serenity was working very well. Of course though, I was in a lot of pain but I was already feeling much better.  After surgery that night my medical team wanted me to get up by 10:30pm to do my first walk. My goal was to walk every 4 hours and sit in my chair 3 times a day for each meal. I was able to get up and walk at about 9:30pm. It was very painful but doable. This went on for a couple of days and then I was discharged on June 3, 2013.

Me in Pre-op with Diane and family
Me in Pre-op with Diane and family

Now, I am living with full kidney function and I am no longer in End Stage Renal Failure. My incision has finally healed and my health is so much better. Nevertheless, I had to have another surgery to remove my peritoneal dialysis catheter. That surgery was also done at the UIHC by my transplant surgeon. This surgery had some complications because of how the UNMC Transplant surgeon put it in. My UIHC

Pre-op with family
Pre-op with family

Transplant surgeon has never seen a PD catheter placed like mine was so it wasn’t a laparoscopic surgery and they had to keep me over night because of my pain levels. I was discharged the next afternoon and went back to the hotel to rest before we would head back to Council Bluffs, Iowa.

Thus, today I have pain from the two incisions for the PD catheter removal and one of them was left partly open to drain in case of infection. But other than that I am much better but I do sleep a lot and I have been able to decrease the amount of pain killers I am on to about 2 tabs at bed to help sleep more comfortably and fully without the pain. Those two incisions currently have constant pain.

Any questions about my journey or about kidney transplants or Cystinosis feel free to email me at

I am a survivor and there is nothing that can take that away!

I would like to also tell you about how my days go medically.

7am: I take medications

  1. Sertraline 2 tabs – for depression/anxiety
  2. Phospha 250 Neutral 1 tab – for Cystinosis
  3. Mcyophenolate 1 tab – for prevention of kidney transplant rejection
  4. Sulfamehoxazole-TMP-SS 1 tab – for transplant to prevent infection prophylaxis
  5. Rapamune 4 tabs – for prevention of kidney transplant rejection
  6. Prednisone 1 tab – for prevention of kidney transplant rejection
  7. Levocarnitine 2ml oral solution – for Cystinosis
  8. Cystagon (LTD DIST) 10 caps – for Cystinosis prevention of additional organ failure
  9. Cysteamine HCI BAC eye drops one drop in each eye – for Cystinosis to prevent corneal crystal buildup (I try to do these every hour while awake like prescribed)

9 or 10 am: I get out of bed to really start my day

  • I weigh myself and record it
  • I take my temperature and record it
  • I take my blood pressure and pulse and record it
  • I fill all my water bottles (need to drink at least 2 liters of water a day, my doctors want me to drink between 3-4 liters of water a day)

11am or 12pm: Meds again

  1. Levocarnitine 2ml
  2. Cystagon 10 caps
  3. Cysteamine drops
  4. Ondansetron 1 tab – for prevention of vomiting as needed (many of my medications especially the Cystagon make me very sick some days)
  5. Multivitamins
  6. Vitamin D 200 IU

6pm: Meds YAYS!

  1. Mcyophenolate 1 tab
  2. Phospha 250 Neutral 1 tab
  3. Levocarnitine 2ml
  4. Cystagon 10 caps
  5. Cysteamine eye drops

8 or 9pm: I get ready for bed on days that I don’t have any events for LB380 or other

  • I take my temperature and record it
  • I take my blood pressure and pulse and record it

11pm or 12am: Yays meds again!

  1. Levocarnitine 2ml
  2. Cystagon 10 caps
  3. Cysteamine eye drops
  4. Ondansetron

That’s how my days on average go.

Finally, here are some videos that I found that I find moving and inspirational.

Several hours after surgery. Serenity is home!
Several hours after surgery. Serenity is home!
My new Med box with some of my meds!
My new Med box with some of my meds!
All my current meds
All my current meds

Below are pictures of my incisions so don’t look if you might get sick. I cannot be held responsible.

Not too long after the kidney arrived
Not too long after the kidney arrived
Incision one from PD Cath removal
Incision one from PD Cath removal
Incision two where the PD cath use to be.
Incision two where the PD cath use to be.


National Institutes of Health (NIH) visit is over and it was a wonderful visit!! A lot of good memories formed and some really awesome news plus some negative news as well.

I would like to start with the negative news and work my way up to the positive news! Okay so, my Creatinine levels which determine how well my kidneys are working is 8.84. 8.84 is a very bad number. Normal Creatinine levels range between 0.77-1.19. This would indicate that my kidneys are not working very well. In addition, my kidneys are only 5.6 cm and 6.1 cm which means I have bilaterally small kidneys which in turn means my kidneys are not normal size probably due to them not working. Another indication that my kidneys are not doing well would be the issue with there being 2363.0 mg of protein in my urine. Normal protein levels for in urine is 30-150.0 mg per 24 hours. So I have 15x the normal amount of protein in my urine. Not a very good sign. As Dr. William A Gahl said this would all indicate a need for a kidney transplant.

This would explain why I am always sick and vomiting. Which no one here in Nebraska could figure out for some reason.

A little bit more negative news is that I need to have my wisdom teeth removed and I have some gum problems.

Nevertheless, they Dr. Gahl said that I looked very healthy and he was happy about my progress. He was again surprised by how well my eyes are doing. My eye sight is 20/16 which means my eyes are better than perfect! LOL I can read every line on the chart but the very last one or two. Also my crystals on my eyes are better than other Cystinosis patients! That was some really awesome news!!

Some news that is neither good nor bad is that I can lower my Cystagon dose because the damage has been done to the kidneys and that I should work my way back up to 650 dose of Cystagon about 6 weeks after the kidney transplant.

If any friends or family have any additional questions about my health or the results of the NIH visit please facebook, email, or call me.

Queer Goes to the NIH!!

Me in the hospital because of getting really sick with my good friend Nancy!!

Today I will be leaving for Bethesda, Maryland to go to the National Institutes of Health (NIH). I am going to the NIH because I am in a clinical research trial for my Cystinosis. We are working on a cure and better treatment for Cystinosis. I will be at the NIH through Wednesday October 17. While there, I will have almost a full work up. I will have some bloodwork, Echocardiogram, Pulmonary Function Test, Ultrasound of my kidneys, Dental exam, EKG, and Eye checkup. On the last day of the visit, I will meet with Dr. William A. Gahl and his research team.

National Institutes of Health (NIH)

I have been seeing Dr. Gahl from since I can remember. I have basically grown up at the NIH. Some of their nurses have taken care of me from when I was a binky baby to now being a 21-year-old person. So many memories there. Some of them are some really awesome memories and some of them are not so much. See the last time I was there I got the news that I would need to get a kidney transplant and this year I am worried what I will hear. Nevertheless, I know that there must be something negative because I am in the final stage of Cystinosis but yes, it is the longest stage depending on how well your medical team and support teams are and how compliant you are as a patient.

University of Iowa Medical Center

Well, I have been a compliant patient but there was a period that I did not have insurance to cover my medications and so I did not get the medications that I need for almost a year that would help prevent the illness getting worse. Now, I could have had my kidney transplant a year ago but I face discrimination based on my gender identity at the UNMC Transplant Center in Nebraska. Therefore, I am now working to try to get the transplant done this winter at the University of Iowa Medical Center.

So anyways, I happen to be very nervous for this trip that I am actually having an anxiety attack worrying about that will happen while I am there and if they will tell me some really bad news. So please everyone please keep me in your prayers, thoughts, and send me some positive energy. Thank you so much!