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.

When 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.

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.