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.*

Advertisements

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!

Thank you! Still time to Give HOPE through Research!

FundaCureHuge thank you to everyone who have already donated to the Cystinosis Research Foundation to help Give HOPE through Research!

It means so much to me! I realize that it was during a weekday and that not everyone who wanted to attend was able. Therefore, there is still time to donate! Go here to: DONATE

If you also were interested in hearing other cystinosis patient’s stories please watch the youtube video below of Tina’s story.

If you were quite interested in what I was going to say in my little speech you can check that out right bellow!

599457_111877858954314_119659440_nMy name is Mika Covington; I’m 23 years old and hope to live 23 years more. I was diagnosed with cystinosis around age 10 months old. Cystinosis is a rare “orphan” disease that causes that 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 are 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 order 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 frequently miss 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 I was denied. I was told that I was not eligible for coverage for having a pre-existing condition (the 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 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 one year. If I would have had health insurance, I might have been able to wait until after college to get a kidney transplant.

International Day Against Homophobia and Transphobia Rally
International Day Against Homophobia and Transphobia Rally

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) being evaluated for kidney transplant. I first was on hemodialysis, a form of dialysis that is 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 months, until I switched to peritoneal dialysis.

I started peritoneal dialysis in March of 2012, because I was denied getting a kidney transplant at 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. 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.

 554643_454772334563780_354924217_aEven 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 being 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! You don’t always see transplant patients do this well at this point post-surgery! Even my incisions are healed so well you can hardly see them. I can show those to you afterwards too! I am now down to only having blood draws 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, kidney symptoms typically become apparent during adolescent years. With ocular 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 to start Procysbi about four months ago and I have nearly no side effects from the new form. 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. 

250px-NIH_Clinical_Research_Center_aerialWe 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 it’s 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 here raising funds to help find that cure for my terrible disease. The money raised here will go directly to 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 lead 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 investigators 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. 

Can I count on you to join me?

Go here to donate online: Fund a Cure 4 Cystinosis 

Hope Through Research

FundaCureI live with cystinosis. Cystinosis is a very rare genetic disease that causes cells to crystallize causing early cell death. It slowly destroys the organs in my body including the kidneys, liver, eyes, muscles, and brain. As I age, the disease affects my body further, inflicting damage to multiple organ systems. I take many medications to slow the progression of the disease but there is no cure.

I am working to change this!

This August I am doing a grassroots fundraiser at the Urban Abbey for cystinosis research to fund a cure. The money raised will go directly to the Cystinosis Research Foundation (CRF) the largest non-profit 501(c)3 fund provider of cystinosis research in the world. To date, the CRF has funded and committed more than $18 million to cystinosis research and has awarded 114 research studies and fellowships in 11 countries. The CRF research funded at the University of California, San Diego (UCSD) has resulted in the development of a slow-release form of cysteamine the medication used to slow the progression of cystinosis. On April 30, 2013, the FDA approved the new drug Procysbi.

Go here to RSVP for the event: Cure Cystinosis Grassroots Fundraiser

At the fundraiser, there will be several ways to donate, by check or online at www.gofundme.com/FundHOPEthroughresearch

FCFCpic

*100% of the funds raised will support cystinosis research. All donations are tax deductible. CRF Federal Tax ID # 32-0067668*

Let me tell you a little about my story of living with cystinosis. I am 23 years old. I was born with cystinosis and diagnosed around age 10 months. I have already had kidney failure and this disease has been a struggle for me and my friends and family. It has caused a lot of trauma. I cannot even comprehend how difficult it was for my family to get the news of my diagnosis and how it will eventually take my life if we do not find a cure.

I began dialysis in May of 2011, when my kidney failure reached a point that I could not live without it and I was a patient at the University of Nebraska Medical Center (UNMC). When I first started dialysis, I was on hemodialysis. Fortunately, I was only on this form of dialysis for about 9 months when I learned about peritoneal dialysis and switched to it.

Today, I am living with a new kidney and doing wonderfully in aspects of my renal (kidney) health. I received a living donor kidney transplant and had the transplant surgery done at the University of Iowa Hospitals and Clinics (UIHC). The transplant team at UIHC have been impressed with how well I am doing and how my body accepted the kidney and recovered from surgery. Even my blood levels are great! My creatinine level, which determines how well the kidney is doing, is 0.8.! This number is awesome! I am now down to only having blood draws to check my levels once every other month and I don’t need to see the transplant team until June of 2015.

As the years go by and I celebrate my birthday, it is becoming a bit difficult because living with cystinosis I need to have more honest and open discussions about what adult life with cystinosis entails. Yes, I got the kidney that is sustaining my life; it is giving me more years. Nevertheless, my health is slowly deteriorating, I have pain in my eyes, my muscles are weakening and I do have a lot of fatigue, it is my companion and I must recognize and work with it. As I age, I take on more responsibility with my health and advocating for myself. It is a lot.

“What sustains the cystinosis community from the harsh realities and daily life with cystinosis is the hope and promise of better treatments and a cure for cystinosis. It is all about research.” – Nancy Stack Chair and Founder of the Cystinosis Research Network and Parent of a cystinosis patient.

Now let me share with Tina’s story:

Donate here: Hope through Research

Help Fund a Cure for Mika’s Disease

599457_111877858954314_119659440_nMy name is Mika Covington and I live with Cystinosis. I am 23 years old and hope to live 23 more.  I was born with Cystinosis and diagnosed around age 10 months. Cystinosis is a rare metabolic disease that causes cells to crystallize causing early cell death. This happens because the amino acid cysteine accumulates in the cells, but has no transporter out. Cystinosis slowly destroys the organs in the body including the kidneys, liver, eyes, muscles, and brain. Cystinosis is a progressive disease. As I age, the disease affects my body further, inflicting damage to multiple organ systems. The medications I take only slow the progression of the disease but there is no cure. I have already been through the kidney failure, next up is thyroid insufficiency, calcifications on my brain, muscle wasting, and swallowing difficulties.

Cystinosis has always been a struggle for me and my friends, and my family. It of course continues to be a struggle. It has caused a lot of trauma not only to me but also to those who care about me. I cannot even comprehend how difficult it was for my family to get the news of my disease and how it will eventually take my life if we do not find a cure.

Post-Op Kidney Transplant
Post-Op Kidney Transplant

A year ago, I had a living donor kidney transplant at the University of Iowa Hospitals and Clinics (UIHC). At UIHC, I received excellent care and treatment. I personally feel they are the best in the Midwest. 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). I first, was on hemodialysis, a form of dialysis that is usually performed with a catheter placed in the chest used as an access to cycle large amounts of blood into a machine that cleans the blood and returns it to the body. If you are on hemodialysis for a long-term period, a surgeon will create a port in your arm or leg called a fistula. However, I was only on this form of dialysis for nine month, until I switched to peritoneal dialysis.

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

I started peritoneal dialysis in March of 2012, because I was denied a kidney transplant at UNMC. Peritoneal dialysis is performed using a catheter placed in your abdomen that cycles a dextrose fluid into your peritoneal cavity that uses the wall of the cavity as a natural dialyzer that cleans your blood. I was on peritoneal dialysis until May of 2013, when I received the kidney.

Today, I am living with a new kidney and doing wonderfully in aspects of my renal (kidney) health. The transplant team at the 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. You do not always see transplant patients do that well after transplant. My incisions are completely healed. I am down to only having blood draws once a month and only needing to visit UIHC once a year.

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

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. I tried applying four times with the same results each time. However, I was still in High School, therefore I stopped trying and instead focused on graduating High School. I went most of that year without any of my medications. It is a fact that because of this, it cut a couple of years off my life and made me go into renal failure more quickly. I went from needing a kidney transplant in 3 – 5 years to needing one in six months to a year. If I would have had health insurance, coverage I would have been able to wait until after college to get a kidney transplant.

Healthcare event in Council Bluffs, Iowa.
Healthcare event in Council Bluffs, Iowa.

Since I graduated from High School, I have wished 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 forced me to stop working. To stay busy I volunteered 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 chronic diseases to get worse like my disease did.

International Day Against Homophobia and Transphobia Rally
International Day Against Homophobia and Transphobia Rally

I am currently 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 molecules that should be reabsorbed into the blood stream are instead eliminated in the urine. This leads to the loss of important minerals, salts, fluids, and many nutrients. I also have issues with my eyes being extremely sensitive to sunlight and light in general. I have some issues with my heart and starting to have some neurological issues and frequent headaches. This all leads to a lot of stress and feeling sick. Not to forget, during my time on dialysis, I gained a lot of weight, which in of itself is causing problems.

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

I am participating in long-term clinical research study at the National Institutes of Health (NIH) in Bethesda, Maryland. 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 specialized study of the progression of Cystinosis in my body and to aid his research into the long-term effects of the disease. I first saw Dr. Gahl in 1992 shortly after I was diagnosed with Cystinosis. Since then I have participated in several studies elsewhere including at the University of California at San Diego Medical Center (UCSDMC) where they studied the psychological and neurological effects of Cystinosis.

There has been a lot of progress in treatment and management of Cystinosis. For instance, I take Procysbi instead of Cystagon. When I took Cystagon, I had to take 13 capsules four times a day and the medication made me sick. With Procysbi, I only take five capsules two times a day with nearly no side effects. There has also been progress made in studies using stem cells, which could cure Cystinosis. Therefore, there really is hope.

I am raising funds to help find that cure for my terrible disease. I hope you all will join me in this effort. Finding a cure not only will save my life but will save my little sister’s life and many more. Can I count on you all to join me?

You can donate by visiting www.gofundme.com/9ibcmo or click here: Fund a Cure

*Funds will go directly to the Cystinosis Research Foundation (501(c)3 non-profit) that has no paid staff and sending all funds to cystinosis research.