The Story of Mika

IV meds post-op transplant. Not many compared to most transplant patients.
IV meds post-op transplant.

I wake up feeling pain and choking on the dryness in my throat. The nurses around me are talking and doing things with my iv lines. I could not understand what. One of them ask me, “Mika, what is your pain level?” I don’t respond, I just groan because I still am fighting the hoarseness and dryness in my throat. I try to swallow the saliva that isn’t there, and fall back asleep.

I wake again hearing someone ask me, “Mika, can you tell me what your pain level is?”

I clear my throat and say, “I feel pain. A lot of pain.”

The person replies, “Yes, what is the pain level? One to ten.”

I reply, “It is a 11.” I then feel someone touching my arm and I fall asleep once again.

Jon and me after our surgeries!
Erika and me after our surgeries!

The next thing I remember is people talking and being in a different room but I was not wearing a mask. Someone in the room was speaking but not towards me. I ask, but to no one in particular, “Water, I need water.”

At one moment of my consciousness before I was fully awake, I turned to my grandmother and weakly said, “No more dialysis.”

I am a bit more conscious and aware, I see that I am in a private patient room with family around. A nurse is trying to talk to me about the surgery, the morphine pump, only being allowed ice, and needing to get up to walk by 10:30pm.

Cystinosis has been a struggle. It has been a challenge for me and those who care about me. Yes, perhaps I’m a survivor. However, I’m living with it every day. There is no break and I have fallen apart from time to time because of it.

When I was a kid, I was always seen as different. Every day, I would got to the nurse’s office to take medications. Many days, I had bad breath and body odor from my medications, and I felt sick to my stomach. This usually ended in me vomiting.

Elementary and middle school were especially difficult for me because of this. Not to forget all of the doctor appointments and hospitalizations I had to go to which caused me to miss a lot of school. Growing up with cystinosis is difficult and quite the journey.

530218_4348259423965_656840845_nCystinosis is not the only thing that defines me. I am more than my diagnosis. I am a progressive democrat, a feminist, a human rights activist, an organizer, and a student. Beyond all of this, I am a human being.

Cystinosis is part of everything. It is with me every day and intersects everything. Because I must take medications every day and I must make sure that I have health insurance no matter where I go to school or work. I even cannot leave for a weekend vacation without packing medications and it is not just a couple, it is twenty-three different medications. Because of them, I am reminded of the disease every several hours.

In 2010, my senior year in high school, I turned 19 and lost my health insurance. In Nebraska, a person becomes a legal adult at age 19 and according to Medicaid rules one must re-apply for insurance. I did just that and was denied. I was told that I was not eligible for coverage for having a pre-existing condition (cystinosis). I tired applying four times with the same results.

While attempting to be a regular high school student and completing my senior year, I needed to figure out how in the world I was going to get health insurance. I needed the insurance to cover all of my medications that kept me alive and keeps the disease at bay.

At this point, I was working at J.C. Penny, but not nearly making enough money to cover private health insurance. Not to forget, I was beginning my process of coming out. And finding my political affiliation as a Democratic Socialist. This caused several other issues or benefits. It really depends on how you look at it.

Many of my friends were talking and laughing about who they were dating, talking about what college they planned to attend, and what classes they would take. No, not me, listening to them talk of these things actually made me feel angry, hurt, and mat at the world and God.

Nonetheless, at some point, I understood that I was seeing the world more clearly. I guess they all may have helped made me stronger in a way. They may have helped make me into the person I am today.

Growing up, I have made sacrifices that I did not want to make. But, I knew that I needed to, so that they would protect me and get things done.

The year 2011 was even more difficult for me to attempt to put cystinosis in a box as just one detail of who I am because my kidneys failed. I would need a kidney transplant or start dialysis. Thus, my doctors put me on hemodialysis. At the time I did not have a kidney donor.

Hemodialysis is a form of kidney dialysis that can be done with a catheter (a plastic tube) placed in the chest into the superior vena cava (a very large vein right above the heart) that is used to cycle blood into a machine that cleans the blood and returns it. I was on this form of dialysis every other day for four hours of the day in a center for about ten months.

I knew that I would need to look for a kidney donor because I could not indefinitely live on dialysis. After a couple months of searching I found one, her name was Erika von Kampen. She was a match and we had the transplant scheduled at the University of Nebraska Medical Center (Nebraska Medicine). Unfortunately, the transplant was unable to happen there and I had to move on.

PD Cycler
PD Cycler

Therefore, in February 2012 I switched to peritoneal dialysis. This form of dialysis uses my own body, the peritoneal membrane in my abdomen as a filter to clear wastes and extra fluid from my body and returns electrolytes.

 

I was on peritoneal dialysis for fifteen months. This form can also be continuous, which I did go to when I had a cycler so that it could cycle the fluid at night while I slept. I was on it from 2012 to May 30, 2013 when I received a kidney transplant at the University of Iowa Hospitals and Clinics (UIHC).

As I’ve said, cystinosis is only a part of my life. Peritoneal dialysis changed my life to make cystinosis a smaller part of my life. It was like I had some of my freedom again. I was able to follow my passion and fight for what I believe in again. I was able to even become active in politics, I also met many wonderful people including Amber Bordolo a Field Organizer with Organizing for America (OFA).

I was going to college at Iowa Western Community College (IWCC), working on my Associate’s degree in psychology, when Amber invited me to a couple of her events. I finally attended one of them, became friends with her, and she recommended that I apply to become a Summer Fellow (intern) at OFA. Little did I know how big of an impact that was going to have on my life.

398777_10150940759848430_1366498105_nAt the beginning, I worked to organize house parties and other events to get supporters together, fired up and ready to go to work to get the President re-elected. Soon, I moved into a different stage of the campaign where I made many calls to convince voters to support him. Additionally, on the campaign, I had the change to go to Des Moines, Iowa to see the President speak to a crowd of supporter at the Iowa State Fairgrounds where I was able to stand on stage behind President Barack Obama.

It was while I worked with OFA, that I looked into going to the UIHC to get on their transplant list and perhaps have a living donor transplant.

In September of 2012, I went to Iowa City, Iowa for medical tests and evaluations at UIHC Transplant Center to see about being placed on their list. I passed and was placed. Additionally, I went out to find a living donor. This included me sharing my story and health condition with people. Then I sent out packets of information and forms to eight people who were interested. However, only three were returned to the transplant center and one was a match, but had complications and could not donate. I had to make a choice, spend more time sending out packets or see if Erika was still willing to donate her kidney.

I was lucky because Erika was still interested in donating. Once she filled out the forms and they were returned to the transplant center, they immediately scheduled her for an appointment to be evaluated since we already knew she was a very good match. The transplant was scheduled for May 30, 2013, which I dubbed adoption of Serenity because I named the new kidney Serenity.

I am living with full kidney function thanks to Erika and the staff at UIHC. The transplant gave me my life back literally and figuratively. I started the journey to kidney transplant on November 22, 2010 to May 30, 2013. Those were three very long years of two types of dialysis, doctors’ visits, and hospital stays. All I must deal with now is immune-suppressants, cystinosis medications, and fighting to continue to have health insurance.

But, it is still hard. I don’t know what it is like to just live. To live without there being a struggle or some sort of challenge to overcome. Ever since I graduated high school, I have been living from one struggle or challenge to overcome to the next. No time to breath, no time to relax or get comfortable. Or at least the moment I start to relax something new happens, another challenge confronts me. I know how to survive but I do not know how to just live. That is what I am learning.

Photo by Iowa Pride Network
Photo by Iowa Pride Network

Nevertheless, cystinosis and most of the challenges did not halt my endeavors. I wanted to do more and give back to society. This is why I volunteered with Iowa Pride Network and volunteered to be on their College Leadership Team. On the team I organized and ran the Iowa Pride Network’s Southwest Regional Gay-Straight Alliance Coalition. This Coalition was a great way for LGBTQIA youth and students to come together and have a safe space. The Coalition consisted of one meeting a month and the meetings were educationally based to fill the education gap on LGBTQIA studies and issues.

While I was a member of the College Leadership Team, I was a college student at Iowa Western Community College and in the summer of 2012, I had my first taste of political campaigning.

As I spoke about before, I became a Summer Organizer for OFA or the Obama campaign. In that position, I had many responsibilities including working closely with volunteers and talking with Iowa voters. I recruited, managed, and trained volunteers to organize their communities and neighborhoods into teams that registered, persuaded, and motivated voters. I organized my turf (most of Iowa House District 16), I planned and successfully organized on of the largest Equality Nights in Iowa. During that event I lead a discussion on the accomplishments of President Barack Obama and the Democrats for the LGBTQIA community. In addition, I worked to grow neighborhood teams on a grassroots level and managed team leaders.

This was an awesome experience to grow as an adult, learn how to manage several tasks at once and be focused on completing goals. It was quite fun. I loved talking to voters and making connections with them about what is important in their lives and how Democrats can work with them to better their lives.

Ever since getting involved in politics in 2012, I stayed involved because I felt that it was an important endeavor. Therefore, I became more active within the local party and learned more about Iowa politics, my new home. I stayed involved in Nebraska as well, where several Nebraska citizens were interested in fighting for second parent adoption.

It was in the winter of 2012, I worked with these citizens who did not have the ability to secure their families through second parent adoption or join adoption in their own state. After we did extensive research, we began working with Nebraska State Senator Sara Howard (District 9) to introduce a bill in the state legislature.

photo (1)Senator Howard introduced LB380 in February 2013 to correct Nebraska law. I then ran a grassroots campaign for the bill that consisted of an online petition, emails, and calls to State Senators. And I organized postcard making parties in several cities throughout eastern Nebraska, which was sponsored by MoveOn.org. Unfortunately, the bill did die that session, but Sen. Howard continues to fight for families in the state legislature.

While, I was working on the second parent adoption bill, I was the field director of Forward Equality. The organization was formed by several friends of mine including a former professor of mine, and myself. Forward Equality worked on progressive issues ranging from workers’ rights to civil rights (including LGBTQIA). I worked (non-paid) at Forward Equality from April 2010 to April 2014 when it dissolved.

Furthermore, as I said, I continued to be involved in the local Democratic Party. I was elected of the Iowa Democratic Party and severed on the Pottawattamie County Executive Committee as Affirmative Action Chair. I served as Affirmative Action Chair from February 2014 to October 2015.

As the Affirmative Action Chair, I organized the first Affirmative Action Committee in Pottawattamie county for the county Party, where we worked to ensure that our Party was following the Iowa Democratic Party’s rules and regulations on the Americans with Disabilities Act of 1990 and their diversity requirements. This included organizing our involvement in several Pottawattamie County events such as Celebrate Council Bluffs and Heartland Pride LGBTQIA Parade and Festival. I assisted in ensuring that the Pottawattamie County 2016 Caucus locations were ADA accessible to the best of our abilities, and we worked to bring those who historically felt unwelcome back into the Party.

Moving forward, I have been involved in the Presidential Democratic primary. I was a supporter of Sen. Bernie Sanders for president. I first met him back in September 2014 at an event he was speaking at in Des Moines. From that moment on I knew that he was a person that I was willing to fight for and put in long hours campaigning for. He was my candidate. But, at that time Sen. Sanders was not running for president, he was only considering it. I then decided that I had work to do. I volunteered with the Run Bernie Run campaign to get Sen. Sanders to run for president and as a Democrat and I did that for a couple of months by sharing word about Sen. Sanders and sharing a petition for him.

On May 26, 2015, Sen. Bernie Sanders surprised many people including myself by announcing that he was indeed running for president and that he was going to run as a Democrat. I knew at that moment that I had to find out how I can help him out in Council Bluffs. However, I was still the Affirmative Action chair for the Pottawattamie County Democrats and so it made my choice to throw my full public support behind Sen. Sanders.

The choice was thrust upon me the last week of June when I was called by the Bernie Sanders campaign asking me if I could introduce Sen. Sanders at their town hall in Council Bluffs on July 3, 2015. I felt overwhelmed with excitement and terror. I have never spoken publicly to over 2,000 people. Thus, my first response to the staffer who called me was give me some time to think about it. I said this even though in my heart it was screaming go and do this

11695825_10204817824588262_1182260142788144659_nOn July 3, 2015, I gave one of the first speeches kicking off the Bernie Sanders campaign in Iowa. I introduced Sen. Sanders in Council Bluffs, Iowa. I was so nervous but I did my job and did it well for Bernie. That day forward, I began my volunteering for Sen. Sanders. I volunteered on his campaign for months until December when I was hired as an Organizing Fellow for the campaign. I was officially on the Bernie Sanders campaign payroll.

I was an Organizing Fellow for two months before I was promoted Field Organizer. In that position I recruited, managed and trained volunteers, and I built and managed several volunteer canvass and phone banks.

1240631_10208286387655555_8846839057021492748_nWhile on the campaign I worked in Nebraska on their caucus. There my turf included Lincoln but I also knew people in three other counties so I organized them as well. Two of the three counties went for Bernie. After the Nebraska caucuses, I was sent back to Iowa to work on our County Conventions making sure Bernie got a fair representation by having all of his delegates show up.

Left: Michael Moore Center: Mika Covington Right: Annaleah Moore
Left: Michael Moore Center: Mika Covington Right: Annaleah Moore

Between working on the Iowa Conventions, I was sent to Kansas to help organize the campaigns’ participation at their state’s District conventions. When I was finished in Kansas I went back Iowa to continue to work. Nonetheless, I was sent to Colorado to assist with organizing for their State Convention. There I called to invite people to the convention, organized carpools, and at the convention I helped in several ways including monitoring the official ballots and observing the counting of the ballots. I worked for Sen. Bernie Sanders as a Field Organizer from February of 2015 to May 3rd of this year.

Today, I am living my life, I am out and open about who I am. This is who I am, a human being who has a lot of passion to make this world a better place for all. I am a human being who lives with cystinosis and who is a transgender woman. I am a woman, a sexual assault survivor, a Democrat, a human rights activist, a feminist, a student, and a fighter.

This is my story and it continues. Cystinosis will not win.

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Fighting the Govt. for Health Insurance

20160412_114409I am 25 years old and I live with cystinosis. Cystinosis has been a struggle. I live with it every day and many days I do look ‘normal’ and healthy. My illness is not usually visible on the outside to most people.

Living with cystinosis has been a challenged for me and those who care about me. It is such a challenge because of my continued fight to either have health insurance or keep my health insurance. It is so difficult on those who care about me because they see the emotional toll the fight has had on me, and how close I get to giving up sometimes. This seems like a never ending fight with the government to have health insurance, the insurance companies themselves, and the pharmacies. Living with this orphan disease is more than just living with a disease, it effects all aspects of your life.

I was diagnosed with cystinosis around the age of 10 months old. Cystinosis is a rare orphan disease that causes the amino acid cystine to accumulate in the cells, it slowly damages organs including the kidneys, liver, thyroid, eyes, lungs, muscles, and brain. An orphan disease is a disease that has no been “adopted” by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat it.

In 2010, my senior year in high school, is when the fight with the government begun. I turned 19 and lost my health insurance. I lost the health insurance because in Nebraska you are an adult at age 19 and must re-apply for Medicaid. After applying four times I kept getting the same result, that I was not eligible for coverage for having a pre-existing condition, the cystinosis. This resulted in me having no health insurance for nearly eight months and led to me going into end stage renal or kidney failure. I went from needing a kidney transplant in 2-4 years to needing one in six months to a year.

I was on dialysis for almost three years. I started dialysis in May 2011, when I was a patient at the University of Nebraska Medical Center (UNMC) or Nebraska Medical Center (now: Nebraska Medicine) being evaluated for a kidney transplant.

At the beginning I was on hemodialysis, a form of dialysis that is performed with a catheter placed surgically in the chest that is used as an access to cycle large amounts of blood and returns it to the body. Fortunately, I was only on this form of dialysis for nine long months. Until I switched to peritoneal dialysis.

In March of 2012, I started peritoneal dialysis. I switched because I was denied a kidney transplant at the Nebraska Medical Center from my living donor and would need to be on dialysis much longer, additionally hemodialysis was not working out for me.

Peritoneal dialysis is performed using a catheter that is surgically placed in your abdomen that cycles a dextrose mixture fluid into your peritoneal cavity that uses the wall of the cavity as a natural dialyzes that cleans the blood.

downloadToday, I am again fighting the government for healthcare. I was told that I am no longer disabled and that all of my Social Security benefits will end on the last day of July this includes Medicare coverage. i am on my second appeal of their decision. This has taken a lot of me as well.

If I lose the health insurance this will be a very bad thing. I will not be able to have access to most of my medications including my anti-rejection and cystinosis medications. Without the anti-rejection medications my transplanted kidney could start rejecting within a week and I would need to be hospitalized, and I could lose the kidney.

How Do You Live With An “Orphan” Disease?

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

rare-disease-infographic

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.

kidney-transplantation

 

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)

Disease_chart_big1

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.

Gears_big1

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.

CELLS_b-02-big1

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: http://www.ed.gov/ocr/transition.html

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 (www.ada.gov or www.wwoc.gov).

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?

Legal 

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: www.younginvincible.org

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 (www.commonwealth.org).
  • 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 (www.cobrainsurance.com).
  • 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 (www.ada.gov).
  • 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 (www.ssa.gov).

 

*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 http://www.knowcystinosis.com. 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.

Orphan Disease

Do you fear your birthday? Do you worry about the fact that your days are numbered? Do you fear aging because you know death could be nearby?

I do, and many others like me do too. We do this because we have “orphan” diseases and know that our lives are numbered unless a miracle occurs and a cure is found.

1528646_689146354459709_255445209_nMy name is Mika J. Covington; I’m 24 years old and I have cystinosis. Cystinosis is a rare “orphan” disease that causes the amino acid cystine to accumulate in the cells. As the cystine accumulates in the cells, it slowly damages organs including the kidneys, liver, thyroid, eyes, muscles, and brain. Pharmaceutical companies’ control which diseases are to receive attention and funding from the medical and research communities by determining how much financial gain they will make from the disease. Pharmaceuticals created the term “orphan” disease.

An “orphan” disease is a disease that has not been “adopted” by the pharmaceutical industry. Critics maintain this because there is little financial incentive for the private sector to make and market new medications to treat or prevent them. There are almost 7,000 “orphan” diseases in the United States that collectively affect nearly 30 million people. An average of about 4,288 people for each disease. Specifically, in the case of cystinosis, only 2,000 people in the world are affected and in the United States there are only 500.

ki2011301f1Cystinosis has three forms, nephropathic (infantile), late-onset (intermediate), and ocular (adult). I have nephropathic (infantile) cystinosis, which is the most common and severe form of the disease. Patients with nephropathic cystinosis appears normal at birth, however before one year of age they have excessive thirst and urination, and failure to thrive. They are smaller than others their same age and often tend to be in the lowest percentile or even off the pediatric growth chart. And they have delays with walking and bearing weight. Late-onset cystinosis, kidney symptoms typically become apparent during adolescent years. With ocular cystinosis, cystine crystals are present in the eyes but kidney function remains normal.

970200_581143018593377_1471588441_nUnfortunately, cystinosis has only one treatment, cysteamine. Cysteamine slows the progression of the disease by removing the cystine from the cells. There are only two forms of the medication, Cystagon and Procysbi. Cystagon was approved by the Food and Drug Administration (FDA) in 1994, and must be taken every six hours every day and has many side effects. Procysbi was approved by the FDA in 2013 for the treatment of only nephropathic cystinosis in adults and children six years and older. Procysbi is a delayed-release form of cysteamine that must be taken every 12 hours every day with many of the similar side effects as Cystagon. However, there is only one treatment for the corneal cystine crystal accumulation, Cystaran. Cystaran was approved by the FDA in 2012. The medication must be put in the eyes, one drop in each eye every hour while awake.

I have been on Cystagon for nearly 22 years of my life. I was on the drug for a part of the clinical research trial before it was approved by the FDA. Cystagon kept me alive, however it made me sick. It caused me to have nausea, vomiting, gastrointestinal issues, headaches, bad breath and body odor. The medication did this because Cystagon dissolves quickly in the stomach causing the harsh chemical make-up to affect the stomach, which has been commonly known to cause stomach ulcers. Taking Cystagon, we don’t get a break because it must be taken every six hours every day. Now, I am on Procysbi.

Jon and me after our surgeries!
Jon and me after our surgeries!

Another major treatment for cystinosis is a kidney transplant, which has become a standard in the treatment of cystinosis because cysteamine only slows the progression of the disease. If not treated by cysteamine, kidney failure occurs at about 12 years old or younger. With cysteamine treatment, the damage of the disease commonly leads to kidney failure by the late teens. Most of the patients must be placed on dialysis to keep them alive before they receive their kidney, which causes more pain, and suffering; sometimes death occurs while waiting for the kidney.

1_HIV-AIDS-StatisticsNevertheless, being an “orphan” disease, cystinosis does not get the attention or research funding it need to help find better treatments or a cure. All the while, children and young adults are dying from this disease. Compare cystinosis to the Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome (HIV/AIDS), which affects 1.1 million people in the United States. Persons with HIV/AIDS tend to have a longer life-span than cystinosis patients. HIV/AIDS has more attention and gets more research funding for two reasons. First, it affects more people and thus is more profitable for pharmaceuticals to do so. (I fully recognize that this use to not be true and many people with HIV/AIDS face stigma.) Second, because of the larger number of people with HIV/AIDS, the more people are buying their products. (This is not a good thing; I believe that we should rid the world of HIV/AIDS too.) This is unlike many “orphan” disease, and especially unlike cystinosis.

what-is-hiv-aids-2

National Institutes of Health (NIH)
National Institutes of Health (NIH)

We must find a cure for all of these “orphan” diseases and certainly for cystinosis. Thus, I have been participating in a long-term clinical research study at the National  Institutes of Health (NIH) in Bethesda, Maryland. In the study, I see Dr. William Gahl, one of the leading researchers in the world on cystinosis. Dr. Gahl’s study was one of the first studies of its kind on cystinosis. I currently see Dr. Gahl for the specialized study of the progression of the disease, which I hope will assist in finding a cure. I began seeing Dr. Gahl when I was a baby, shortly after I was diagnosed with cystinosis. I would spend a couple of weeks at a time there. Basically, I grew up there from 1992-1996. In addition, I have participated in several other studies, including at the University of California at San Diego Medical Center, where they studied the neurological and psychological effects of cystinosis.

Today, I am raising funds to help find that cure for my terrible disease. The money raised will go directly to the Cystinosis Research Foundation (CRF). CRF is a non-profit 501c3 organization that was started by the amazing Stack family in 2003. this was after their daughter Natalie Stack made a wish on the eve of her twelfth birthday,

“to have my disease go away forever.”

cystinosis_research_foundation_partnerCRF today supports bench and clinical research that is focused on developing improved treatments and a cure for cystinosis. CRF has funded every bench and clinical research study that led to Procysbi, allowing cystinosis patients like me to take the drug every 12 hours instead of every 6 hours, which has improved our quality of life. They established the CRF Cystinosis Gene Therapy Consortium, whose mission is to bring stem cell and gene therapy to clinical trial. They also work on effects of cystinosis on neurological function and cognitive development, causes of muscle-wasting and potential therapies.

Finding a cure may save my life, as well as others with cystinosis including my sister Mary, or even persons with other diseases. Pharmaceutical companies may not make a profit off the knowledge discovered by studying one “orphan” disease, however often those discoveries leads to advancements in other diseases.

To help find that cure, please make any kind of donation you are able to the Cystinosis Research Foundation (CRF) on my behalf here: Hope Through Research

*All funds donated going directly to research.*

My Life from there to Here

This question was asked in my Development Psychology class and hit me more than I thought it would.

Are there any issues you had with your parents, your school work, your friends, or your romantic involvements in the last year of high school that continued to be issues for you in college? Reflect on your own personality, interests and cognitive abilities at the time you graduated high school. How did these personality characteristics and abilities manifest themselves in subsequent years? How have they changed since your high school days, if at all?

I felt like, “wow how in the world do I answer that with the journey I have been through thus far.” I felt like it was almost impossible for me to explain it all in words. But this was my answer.

There was so much that happened back then in that year and the following year that I would need to write a book to describe it all. That last year in high school, I turned 19 years old and lost my health insurance (Nebraska Medicaid) while still living with with cystinosis (a fatal genetic disease). After I reapplied, Medicaid claimed that they would not cover me because of my pre-existing condition. The condition I have had my entire life, the condition I had when I was first added to Medicaid.

Thus, while attempting to be a high school student and complete my senior year, I needed to figure out how in the world I was going to get health insurance. I needed the insurance to cover all of my medications that kept me alive and keeps the disease at bay. I appealed Nebraska Medicaid four times and lost each time. Therefore, I stopped and decided to focus on graduating and hopefully moving on to college.

At this point, I was working at J.C. Penny but not nearly making enough money to cover for private health insurance. Not to forget, I was beginning my process of coming out as transgender and finding my political affiliation as a socialist Democrat. This caused several other issues or benefits. I guess it depends on how you look at it. I had to fight for myself constantly at school, at work, at the hospital, and at the Health and Human Services office. It was never ending or it seems like it is never ending. While many of my friends where talking and laughing about who they were dating, talking about what college they planned to attend, and what classes they would take.

Nope not me, they actually made me feel angry, hurt, and mad at the world. However, they also made me understand the “real world” much more clearly. I guess they all may have made me stronger. I am now different, yet the same. Those experiences and trials made me stronger, they made me into the person I am today, although I believe they damaged me. They caused me to make sacrifices that I did not want to make, but I knew I needed to, so that it would protect me and get things done. They made me into a cold person who must work hard at being sociable and warm. I am so different from four years ago when I graduated from Millard South High School in 2010.

Now, I would like to fill in the blanks between 2010 and now, with a little extra.

I was diagnosed with cystinosis around age 10 months old. Cystinosis is a rare orphan disease that causes the amino acid cystine to accumulate in the cells. As the cystine accumulates in the cells, it slowly damages organs including the kidneys, liver, thyroid, eyes, muscles and brain. An orphan disease is a disease that has not been “adopted” by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat or prevent it. Almost 7,000 rare or “orphan” diseases in the United States collectively affect nearly 30 million people. In the case of cystinosis, only 2,000 in the world are affected.

Cystinosis has been a struggle. It has been a challenge for me and those who care about me. Yes, I maybe a so-called survivor; however I’m living with it every day. When I was a kid, I was always seen as different. Every day, I went to the nurse’s office to take medications. Many days I had bad breath and body odor from the Cystagon, and I felt sick to my stomach that usually ended in me vomiting. Elementary and middle school were especially difficult for me because of this. Not to forget all of the doctor appointments and hospitalizations I had to go to which caused me to miss a lot of school. Growing up with cystinosis is difficult and quite the journey.

Cystinosis has been difficult on my family, too. I cannot even comprehend how heartbreaking it must have been for them to get the news that cystinosis is an incurable disease. Then, to see me go through all of the hospital visits, side effects from the medications, and just daily life with cystinosis. However, I am proud because I am one of the only cystinosis patients to make it to 19 years old before needing a kidney transplant.

In 2010, my senior year in high school, I turned 19 and lost my health insurance. This happened because in Nebraska, you are an adult at age 19 and you must re-apply for Medicaid. I did just that and was denied. I was told that I was not eligible for coverage for having a pre-existing condition (cystinosis). I tried applying four times with the same results each time. With no avenue to appeal their decision, I decided to focus on graduating high school and going to college until my scheduled trip to the National Institutes of Health (NIH) that fall. I went most of that year without any of my medications. This resulted in me going into end stage renal or kidney failure and it probably cut a few years off my life. I went from needing a kidney transplant in 2-4 years to needing one in six months to 1 year. If I would have had health insurance, I might have been able to wait until after college to get a kidney transplant.

599457_111877858954314_119659440_nWhen I graduated from high school, I knew I wanted to contribute to society in any way possible and work to create the change I seek. However, because of having cystinosis and going on dialysis, it forced me to stop working. To stay busy, I volunteer on issue and political campaigns, such as fighting for Full LGBT Equality, voting rights, and health care for all. I am passionate about these because I look forward to a future where everyone has the right to vote, has full and equal human rights, and access to high quality health care. For me, these causes are important because I know first-hand how not having access to health care can cause a chronic disease to get worse like my disease did.

I was on dialysis for almost three years. I began dialysis in May of 2011, when I was a patient at the University of Nebraska Medical Center (UNMC) or Nebraska Medical Center (now: Nebraska Medicine) being evaluated for kidney transplant. I first was on hemodialysis, a form of dialysis that is usually performed with a catheter placed in the chest that is used as an access to cycle large amounts of blood into a machine that cleans the blood and returns it to the body. Fortunately, I was only on this form of dialysis for nine long months, until I switched to peritoneal dialysis.

I started peritoneal dialysis in March of 2012, because I was denied getting a kidney transplant at the Nebraska Medical Center (UNMC) from my living donor and would need to be on dialysis much longer, in addition to hemodialysis not working out for me. I had many complications with hemodialysis and cystinosis. For example, cystinosis patients are not your typical kidney failure patients because we still need access to water and potassium. This is why our specialists recommend having the kidney transplant as soon as possible and never going on dialysis. Most health care professionals are not fully educated on cystinosis. Therefore, cystinosis patients like me must take it upon us to help educate our health care professionals.

Even with the additional education sometimes, mistakes are made. While I was on hemodialysis, it caused me to continuously become dehydrated, have hypotension (low blood pressure) and tachycardia (fast heart rate). In addition, I had other complications like the catheter itself falling out of my chest and a couple of times where there were infections. By the end of the period of me bing on hemodialysis, I had seven hemodialysis catheters placed in my upper right chest. I can show those afterwards.

Peritoneal dialysis is performed using a catheter placed in your abdomen that cycles a dextrose mixture fluid into your peritoneal cavity that uses the wall of the cavity as a natural dialyzer that cleans your blood. Peritoneal dialysis was much better for me because I was able to better control how much fluid I take off my body and my health care was more in my own control. It also was done at home. This way I did not have to go to a dialysis center. It gave me more of my life back. I was on peritoneal dialysis until May 30, 2013, when I received the Gift of Life from my living donor. I had the kidney transplant at the wonderful University of Iowa Hospitals and Clinics (UIHC), in Iowa City. At UIHC, I received excellent care and compassionate treatment. I personally feel they are the best in the Midwest.

Today, I am living with a new kidney, which I named Serenity after the ship on FireFly a scifi show, and doing wonderfully in aspects of my kidney health. The transplant team at UIHC was impressed with how well my body accepted the kidney and recovered from surgery. My creatinine level, which determines how well the kidney is doing, is 0.9. This number is awesome! I am now down to only having blood drawn once every other month to check my levels and only need to visit UIHC once a year.

Currently, I am not employed because even though my kidney issue is resolved for the moment. I still have cystinosis; remember it affects my entire body. Because of cystinosis, I have Fanconi Syndrome, where I constantly must fight the loss of water, important minerals, salts, and nutrients. I have issues with my eyes being extremely sensitive to sunlight and light in general. I also have some issues with my heart and frequent headaches. This all leads to a lot of stress and still feeling sick.

I must point out, I don’t only have cystinosis. I have nephropathic or infantile cystinosis. There are three forms of cystinosis: nephropathic (infantile), late-onset (intermediate), and ocular (adult). The most common and severe form is nephropathic cystinosis. Patients with nephropathic cystinosis appear normal at birth. However, before one year of age have excessive thirst and urination, and failure to thrive. They are smaller than others are their age and often tend to be in the lowest percentile or even off the pediatric growth chart. There may be delays with walking and bearing weight. With late-onset cystinosis, cystine crystals are present in the eyes but kidney function remains normal.

Fortunately, we have the drug cysteamine to slow the progression of cystinosis by removing the cystine from the cells. There are two forms of cysteamine Cystagon and Procysbi. The FDA approved Cystagon for the treatment of cystinosis in 1994. Cystagon must be taken every six hours, every day. I was on Cystagon during the trial and had been taking it for nearly 21 years of my life. It caused me to feel sick almost every day.

Last year, the FDA approved Procysbi, a delayed-release capsule for the treatment of only nephropathic cystinosis in adults and children 6 years and older. I was lucky enough and started Procysbi about eight months ago and I have nearly no side effects. There is only one medication to treat the corneal cystine crystal accumulation in patients with cystinosis, Cystaran. Cystaran must be used every hour while awake in order to remove the cystine crystals from the cornea. Patients who begin cysteamine treatment early enough, and are compliant in taking cysteamine as prescribed, generally delay the need for kidney transplantation for several years.

We must find a cure. Thus, I am participating in a long-term clinical research study at the National Institutes of Health (NIH) in Bethesda, Maryland. In the study, I see Dr. William Gahl, one of the leading researchers in the world on cystinosis. Dr. Gahl’s study was one of the first studies of its kind on cystinosis. I currently see him for the specialized study of the progression of the disease in my body and to aid his research in the long-term effects of the disease, which I hope will assist in finding a cure. I began seeing Dr. Gahl when I was a baby, shortly after I was diagnosed with cystinosis. I spent several weeks at a time there. Basically, I grew up there from 1992 to 1996.

In addition, I have participated in several other studies, including at the University of California at San Diego Medical Center, where they studied the neurological and psychological effects of cystinosis. I was also a participant in the study at the NIH, which proved to the FDA that the eye drops work to reduce the cystine crystals on the corneas.

Today, I am back in college working on my psychology degree, however it won’t matter if there is no cure for my terrible disease. There is an organization that is working on this issue, the Cystinosis Research Foundation (CRF). CRF is a non-profit 501(c)3 organization that was started by the amazing Stack family in 2003, after Natalie Stack their daughter, made a wish on the eve of her twelfth birthday,

to have my disease go away forever

CRF today supports bench and clinical research that is focused on developing improved treatments and a cure for cystinosis.

CRF has funded every bench and clinical research study that led to Procysbi, allowing cystinosis patients like me to take the drug every 12 hours instead of every 6 hours, which greatly improves our quality of life. They established the CRF Cystinosis Gene Therapy Consortium, whose mission is to bring stem cell therapy to clinical trial. The CRF is currently funding investigator in eleven countries. Some of the areas of focus include stem cell and gene therapy, effects of cystinosis on neurological function and cognitive development, causes of muscle-wasting and potential therapies, etc.

Finding a cure may save my life, as well as others with cystinosis including my sister Mary, or even persons with other diseases. Knowledge discovered by studying one “orphan” disease often leads to advancements in other diseases.

one-fist

Here (2014):

I am working on my Associates Degree at Iowa Western Community College in Psychology. I was in college in 2010-2011. However, I had to leave because of my health and being on dialysis. This fall semester of 2014 was me getting back into the hang of it. Next semester I will be taking a full load of classes or at least what I consider a full load four classes three of them are 3 hour credits and one is 4 hour credits.

Moving forward from the elections I plan to work on issues and help the Democratic party the best I can. I plan to work on issues on topics of feminism, workers’ rights, and full and equal human rights.

Videos:

These are videos on topics that I will be working on in 2015 and I will be writing about. Check them out!