Tag: Cystinosis

Progressive Political Organizing & Cystinosis

On By mikacovingtonIn Cystinosis, Transplant

As you may be aware, I live with an ultra-rare disease called cystinosis. Cystinosis is a metabolic genetic disease afflicting more than 2,000 people worldwide. The disease impacts all the organ systems in the body leading to kidney failure, muscle wasting, diabetes, blindness, pulmonary deficiency, hypothyroidism, and neurological damage.

I was diagnosed with cystinosis at around 10 months old. Little did I or my family know that I would face a lifetime of poking, prodding, nagging, cutting, and examining. And because of living with cystinosis, I have been hospitalized many times in my 27 years on this Earth. I have even had about 13 surgeries some of which were major including my kidney transplant and some that were minor. Furthermore, several times throughout the year I have appointments with specialists including nephrology, neurology, cardiology, pulmonary and others.

Recently, I decided to do more for the cystinosis community and therefore I am volunteering with the Cystinosis Research Network (CRN) and joining their group Future by Design (FBD).

FBD is a group of adults living with cystinosis who’ve come together to pave a brighter future for the children, teens, and adults touched by cystinosis.

Along with my participation in FBD, I plan to continue to be an advocate and work to push people in power to recognize the importance of fighting for those who don’t have a voice and fight for equality.

However, living with cystinosis means that to create change and find a cure for cystinosis, I must be my own advocate and to do that takes time, effort, and money.

One example is an upcoming conference with the Cystinosis Research Network and Future by Design next year in Philadelphia.

At the conference, I will learn new research findings, receive updates from cystinosis organizations from around the world, have the opportunity to participate in research studies, and interact one on one with many of the world expert clinicians treating and researching cystinosis.

Nonetheless and in addition to my work with the FBD and on cystinosis, I plan to fight for Medicare for All, transgender equality, and Free College for All.

Therefore, I humbly ask you to make a small donation to help further my work on these causes.

To make a contribution please go to my gofundme page or if you would like to become a sustaining member of my work and make a small monthly contribution please visit my patreon page.

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Future by Design & Progressive Political Change

On By mikacovingtonIn College Debt, Cystinosis, Election 2018, Gender Identity

Hello Everyone,

As you already are aware, my name is Mika Jayne Covington.

I am 27 years old (which is an accomplishment in itself because of the cystinosis) and I live with cystinosis. I was diagnosed with cystinosis at around 10 months old. Cystinosis is an ultra-rare genetic disease that causes cells in the body to crystallize and die. Cystinosis slowly destroys the organs in the body especially the kidneys, eyes, liver, lungs, muscles, and brain.

Recently, I decided to do more for the cystinosis community and therefore, I am volunteering with the Cystinosis Research Network (CRN) and joining their group Future by Design (FBD). 

FBD was created to help make the cystinosis journey easier. FBD is a group of adults living with cystinosis who’ve come together to pave a brighter future for the children, teens, and adults touched by our rare disease.

One major project of FBD is their Outreach program that works to connect individuals and build relationships within the cystinosis community.

Along with my participation in FBD, I plan to continue to volunteer and work for progressive political change.

As a transgender person, I plan to continue working to end anti-LGBTQIA+ bias and helping fill the education gap in Iowa on LGBTQIA+ issues and history. I plan to fight for Free College for All, Medicare for All, and transgender equality. 

Volunteering on these issues takes time, effort, and money. One example is an upcoming conference with FBD in Philadelphia and I will need to pay for travel. This is just one example of my need for support.

Therefore, I humbly ask you to make a small donation to help further my work on these causes.

To make a contribution please go to my gofundme page or if you would like to become a sustaining member of my work and make a small monthly contribution please visit my patreon page.

$63,000 for a medication!

On By mikacovingtonIn Affordable Care Act, Cystinosis

cysteamine-bitartrate-figure-3

One of my medications, Procysbi costs $63,000 for a 30-day supply.

I live with cystinosis, a very rare orphan disease that causes the amino acid cystine to accumulate in the cells. It slowly damages all my organs including the kidneys, liver, thyroid, eyes, lungs, muscles, and brain.

CELLS_b-02-big1The primary medication to treat cystinosis is Procysbi. It has the same active ingredient as Cystagon (cysteamine bitartrate), which is the immediate-release form of the primary treatment for cystinosis. The difference is that Procysbi has an enteric coating over the active ingredient. This new form of the drug was only recently approved by the Food and Drug Administration in 2013.

In 2015, the average price was $250,000 a year which is a 2,400% increase compared to the original drug, Cystagon (1).

Unfortunately, because of the high cost of this medicine, insurance companies fight not to cover the drug, and I am left without the drug sometimes for weeks. A recent survey of 50 insurers and pharmacy benefit managers by J.P. Morgan which found that medicines for the rare disease are increasingly subject to scrutiny and possible restrictions on use, as mine are (2).

The Affordable Care Act does not come close to combating this problem of skyrocketing medication prices and the prices of medical care. It does, however, provide that everyone is guaranteed health insurance.

Let’s demand that Congress enact regulations that control the costs of prescription drugs and even lower the cost of these drugs.

Sign this petition calling on Congress to act: Sign here

1.  Carrol, John. “Raptor’s orphan drug-win at FDA overshadowed by debate over steep price,” fiercebiotech.com, Biotech Industry’s Daily Monitor, 1 May 2013. Web 2 Nov. 2015

2. Pollack, Andrew. “Parental Quest Bears Fruit in a Kidney Disease Treatment,” the New York times (2013): B1 Print.

Would you pay $50,000 a month for a prescription drug?

On By mikacovingtonIn Affordable Care Act, Cystinosis1 Comment

Many people who live with “orphan diseases” must pay thousands or even hundreds of thousands of dollars on their medications to survive. Many of their medications have outrageous prices and currently many of the pharmaceutical companies are allowed to do this even under the Affordable Care Act (Obamacare).

microbeadsOne of those drugs is Procysbi. What is Procysbi? What is it used to treat? How much does it cost? Should it cost that much? These are the questions that I will answer in this post. They are also questions that are continually being asked because I cannot fully answer them.

Procysbi was created to treat nephropathic cystinosis, the “orphan disease” that I have spoken about many times in this blog. Nephropathic cystinosis is a rare genetic disorder in which the amino acid cystine rises to toxic levels, which results in irreversible tissue and organ damage if left untreated even for a short time. Cystinosis commonly affects many parts of the body including the kidneys, eyes, mouth and throat, liver, thyroid, and other organs (Orphan Disease).

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Procysbi has the same active ingredient as Cystagon (cysteamine bitartrate), which is the immediate-release from of the main treatment for nephropathic cystinosis. Procysbi has an enteric coating over the active ingredient. The active ingredient cysteamine bitartrate forces a metabolic transformation of cystine into cysteine and cysteine-cysteamine mixed disulfide compound. This creates a way for both cysteine and cysteine-cysteamine disulfide to exit the lysosomes in cystinosis patients (Morrow)

This new form of cysteamine bitartrate was only recently approved by the Food and Drug Administration (FDA) in 2013. Before Procysbi, cystinosis patients only had the choice of taking the immediate-release form which was approved by the FDA in 1994.

The new drug Procysbi, was studied in six clinical research trials. However, it was the third trial that claimed,

Procysbi administered every 12 hours was non-inferior to immediate-release cysteamine bitartrate administered every six hours (Morrow).”

The researchers found that the most common side effects of this drug were vomiting, abdominal pain/discomfort, headaches, breath odor, fatigue, dizziness, skin odor, and rash. Personally, I experience several of these side effects on a daily basis (Morrow).

On average, the price of Procysbi is $250,000 a year or a 2,400% increase, compared to the original drug, Cystagon. The average cost of Cystagon is $10,000 a year (Carroll). However, my health insurance pays $50,000 per month for Procysbi. This is probably because I take a larger dose compared to the average patient. Thus, my health insurance pays about $600,000 a year just for that one medication (Myself from my Medicare bills).

Raptor's Headquarters
Raptor’s Headquarters

Therefore, debate has risen around the cost of this medication and whether it is ethical to charge so much. According to Christopher Starr, co-founder and chief executive of Raptor said that the price reflects that value of the drug and the need to recoup Raptor’s development costs (Pollack). However, if you look at the company’s regulatory filings, the company spent $37.4 million on research and development of Procysbi, and their total expenses in that period were $110 million (Pollack). Nevertheless, within the first year after approval experts said that they could expect sales to exceed $100 million annually (Pollack).  That has already happened and they even make more, especially from myself and my health insurance.

Unfortunately, because of the cost being so high for Procysbi, insurance companies might being to stop covering it. Even a recent survey of 50 insurers and pharmacy benefit managers by J.P. Morgan found that drugs for rare diseases are increasingly subject to scrutiny and possible restrictions on use (Pollack).

You health insurance might be paying for drugs that cost up to $50,000 if you do live with an “orphan disease.” However, it is becoming more difficult to prove the ethics behind increasing the price of a drug by 2,000%, especially when health insurance companies are beginning to look at restricting the amounts of those drugs or just not covering them. Procysbi is used to treat cystinosis, and it is very expensive. The debate continues on whether it is ethical for it to cost so much.

Works Cited

Carroll, John. “Raptor’s orphan drug-win at FDA overshadowed by debate over steep price,” fiercebiotech.com, Biotech Industry’s Daily Monitor, 1 May 2013. Web. 2 Nov. 2015.

Morrow, Thomas MD. “Do comparable Efficacy & Convenient Dosing Justify Procysbi’s Extremely High Price,” managedcaremag.com. Managed Care, July 2013. Web 2 Nov. 2015.

Pollack, Andrew. “Parental Quest Bears Fruit in a Kidney Disease Treatment,” The New York Times (2013): B1 Print.

How Do You Live With An “Orphan” Disease?

On By mikacovingtonIn Affordable Care Act, Cystinosis, National Institutes of Health, Peritoneal Dialysis, Transplant1 Comment

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 essential – even 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.