Spotlight on Mika Covington: Honest, Whole, and Valuable

*This interview article I organized was recently published on the rare news site Patientworthy on February 11, 2019.

Dr. Roman, Rebekah Palmer, Mika Covington, Alex Schultz (Stout), and Paula Shal attending a Cystinosis event in 2016.

One of my better friends within the Cystinosis community is Mika Covington. We met at a Cystinosis event in 2016. I had read some of Mika’s entries posted in her blog, In the Eyes of Mika, prior to meeting her face-to-face. I found her writing to be insightful and refreshing because she addressed topics I had an interest in and wanted to learn more about.

Recently I asked Mika if she would be willing to answer a few questions about herself for the rare disease community and for others in the Cystinosis community. As a self-appointed rare news curator for my own blog, I wanted to see more perspectives lifted up among the rare. I also want the rare community and the general public to be more aware of intersectionality among people living with rare disease in their bodies.

Rebekah P: Tell me your diagnosis story. At what age were you (or your parents/caregivers) told you had Cystinosis?

Mika: I was diagnosed with Cystinosis at around 10 months old. I was informed of my diagnosis at around 5 or 6 years old. At that age, I was informed that because of the Cystinosis I most likely would not reach the age of 20. Today, I am 27 years old and next month I will reach age 28 years old.

Rebekah P: Tell me your coming out story. At what age were you self-aware of your gender and/or sexuality? At what age did others perceive/assume your gender and/or sexuality?

Mika: I am not sure at what age I became self-aware of my being transgender. However, it was in the third grade when I first realized that I was different. Maybe the following might help provide some perspective.

In the second grade, there was a fellow boy in my class. We were good friends. We frequently played at his house and during recess played together. It was during this time that I was bullied nearly every day for a multitude of issues including side effects from the Cystinosis medications. This friend, on one of those occasions, stood up for me. He hugged me and told me, “Don’t cry, I won’t let’em hurt ya.”

At that age, I did not think or realize that I was different. I did not think that there was anything wrong with me. I had no understanding what gay or transgender (I would not learn of the word transgender until high school) meant. I was just being a kid and this friend was my best friend, that was all I knew at that time.

Later, my family and I moved to Wahoo, Nebraska and I never spoke to him again. It was in Wahoo, while I was in the third grade that I for the first time heard the word ‘gay.’ I didn’t understand what gay meant, other than it was an insult. Within a sort time, my fellow classmates called me gay and sissy. I did not act the way that they perceived a boy should act. Around the end of that school year, one of those classmates called me a ‘faggot.’ Again, I had no idea what the word meant other than it was similar to the slur gay.

In the fourth grade, I started to think that I must be gay since I did not act the way other boys did. This was also the year that I started to think that I was being punished for being different and depression began to set in. I thought that if I were just more faithful in God and became a so-called better Christian that these behaviors and feelings would go away. I was in this mindset for years.

It was in my sophomore year at Wahoo High School that I came out as gay. I thought that I must be gay since that was what everyone continued to call me, including members of my family and friends. I still at that time had no understanding what transgender was. Therefore, I associated my gender expression as a variant of being gay. It was only after moving to Omaha, Nebraska and beginning school at Millard South High School that I learned what transgender was and I started a self-evaluation of my past and my psychological being.

On 11 October 2009, I came out as transgender. The place I felt the most comfortable being myself was at work at JCPenney. There I had protections and was able for the first time be who I always was.

Rebekah P: How has the medical/health care system viewed you as a person living with a rare disease and as (your gender/your sexuality)?

Mika: In 2011, I needed a kidney transplant. Therefore, I went to the Nebraska Medical Center (now known as Nebraska Medicine) to be listed and begin hemodialysis. It was there that I first experienced discrimination in the medical field for being transgender.

For example, on several occasions while sitting in the waiting room at the transplant center, the transplant nurse coordinator would call me by my deadname (at the time it was my legal name) and male pronouns. This was even though after my initial appointment I had asked the team to use my preferred name and preferred gender pronouns. They claimed that legally they were prevented from doing so.

I knew better than to take their word for it. I had done my research. There was no federal, state, or local statute prohibiting them from calling me Mika or female pronouns. For that matter, there were and still are no laws in Nebraska prohibiting discrimination based on gender identity, thus I had no recourse to fight the discrimination.

This disagreement spilled over into affecting my healthcare. The transplant team on two occasions had scheduled the transplant surgery (I had a living donor), then the day before the surgery and after going to all of the pre-operative appointments the team canceled the surgery.

The first time this happened, was in the summer of 2011, and the transplant team claimed that they could not do the surgery because I was not compliant. They added that they thought that I was not psychologically fit to go through with the transplant. They decided that I had to go through six to eight months of psychotherapy before they would consider me for transplant.

After six months of psychotherapy, they reluctantly scheduled the surgery for December 2011. Again, the day before, I went to all the pre-operative appointments and afterward the team said that they had to cancel the transplant. I was sent home without a specific reason. I did not hear from them for over a month.

In February 2012, I received a letter from the hospital informing me that I would not be able to receive treatment at the Nebraska Medical Center and thus would need to go to a different center.

Another more recent example is from my last visit to the National Institutes of Health (NIH). I went to the NIH for my two year follow up. Unfortunately, the NIH had not updated their records. Therefore, upon entering the NIH campus at the security checkpoint, they were confused about my gender and name. I had legally updated my name in 2014. The NIH had my deadname. My state issued I.D. said Mika, federally I was also Mika but not at the NIH. Thus, I was forced to stand there in front of a dozen or so people also attempting to go through security and explain my situation. The security workers refused to print my day pass in my legal name and instead printed it in my deadname.

Therefore, when I signed in at the clinic, I was forced to sign in using my deadname and when the clinic nurse called, she called for, “Mr. Covington.” I was humiliated as I approached her. I stood there in front of her and the lobby. She asked, “Who are you? Can I help you?” I replied, “I am the patient.” She didn’t believe me. Instead she spoke a bit louder and looked around me asking, “I am looking for a Mr. Covington.” Again, I said that is me. She stood there looking me up and down becoming very rude and defensive. She asked for me to show her my I.D.

Of course, the I.D. had Mika and not the deadname because I was able to legally change it. She forced me to stand there in front of the lobby and explain to her that indeed I am the patient and that the NIH had not updated their record and that I am transgender. Again, I was provided no privacy to discuss my situation.

Throughout that visit, I was called by male pronouns even after I had asked to be called by female pronouns. This has been a reality that I have faced nearly everywhere I go to receive healthcare.

Very recently, I went to my primary care physician in Des Moines, Iowa and I was prevented from seeing the doctor because of my gender. The person working the desk did not understand that I am transgender and so after he checked me in he went to speak with one of the nurses because my health insurance said male, however I do not look male. Thus, when he returned about ten minutes later, he informed me that he needed to reschedule the appointment because I was over fifteen minutes late for my 8:20 am appointment.

I confronted him about this and pulled the appointment card out of my bag which clearly stated that my appointment was scheduled for 8:30 am and I had arrived at 8:34 am. He proceeded to tell me that no it was at 8:20 am. So, we went back and forth. This appointment was on 8 January 2019. To this day, 24 January 2019, I have been unable to see my primary care physician.

There are so many more examples I could share.

Rebekah P: How has the rare disease community in general viewed you as a person living with a rare disease and as (your gender/your sexuality)?

Mika: The Cystinosis community has not been receptive of me because of what I perceive as hostility because of my being transgender. Frequently my ideas have been ignored.

As an adult living with Cystinosis, I feel excluded and unwelcome. It feels as though the current organizations that purport to be working for all those living with the disease only care about the children living with it and not the adults who have paved the way for their children to live better and longer lives. It seems that anytime I bring up issues unique to the adults, I am ignored or just given lip service, and nothing is done.

I would like to be more active in the community, but I have been made to feel as though my experience and skills are not wanted.

Rebekah P: As a legally single adult living with Cystinosis, what would you like to see in regard to the rare disease community garnering awareness and advocacy for adults living with rare disease? What would you like to see in regard to awareness and advocacy for adults who are LGBTQIA and also live with a disability?

Mika:I would like education and awareness spread on the real experiences of the adults, including the good, bad and ugly.

I look forward to the day when we, adults living with Cystinosis can have open and honest conversations on the myriad of issues we face, including but not limited to sexuality, emotional health, financial, health insurance, and death.

Furthermore, we need an organization and/or program that focuses on providing real peer-to-peer support, not just a program where the adults are expected to provide mentorship to the youth with the disease or just splash unicorns and rainbows over our issues so that we only talk about how life is great, and everyone is happy all the time.

For those of us who are LGBTIQA+, the rare disease community including the Cystinosis community must include us. We are here, and our lives and experiences are just as valid as heterosexual cisgender people.

We must not be excluded from the organizations because some people may be offended by our existence.

The time is over for the organizations telling us that we should hide a part of ourselves to be able to participate. I cannot be the only transgender person in the Cystinosis community or rare disease community. And I am sick of being made to feel as though my life doesn’t matter.

Rebekah P: I have heard the term “stealth” used before for those who are transgender but pass in general society under the assumption they were born biologically the gender they appear to be. I am under the impression this is for many reasons, among them the person who is transgender is concerned for their public safety. Tell me about your experiences and why you publicly identify as a transgender female who also lives inside a rare body because of Cystinosis. 

Mika: Yes, many transgender people strive for and work hard to become stealth.

I believe that this is because society tells us that certain bodies and genders are more valid than others.

We are told this nearly every day. It is a message spread everywhere from T.V. to social media to the news. We are constantly bombarded with this archetype of what an attractive person is whether they be male, female, intersex, transgender, agender, or genderqueer. We are told and shown that we must be a certain weight, complexion, or socioeconomic status to be attractive.

Frequently, when we do see non-cisgender persons, we are shown a person who has had the privilege of having gender affirmation procedures done. The media very rarely shows us a person before or during that process. And we nearly never see a non-cisgender person who expresses themselves without personally needing to have any gender affirmation procedures.

Therefore, I believe people strive to be stealth or pass because we are taught that it is more acceptable and because we do not want to face discrimination, harassment, and or violence. I must admit, I have fallen into the mindset that not appearing transgender is more desirable.

Here is an example of the psychological effects of society on our well being and minds. Because I have not had the ability to have any gender affirmation procedures, I struggle to form intimate relationships. Even though I was born as what many in society would consider a male and even though I am transgender, I am not gay, as in I am not attracted to men who like men. I am heterosexual. Gender identity is separate and different from sexual orientation. This alone has had a major psychological toll on me.

The following is how I attempt to explain so-called gender dysphoria. It is like an immeasurable and indescribable self-hate. Hate because I feel that everything about me is wrong and I would rather destroy my own body because of how it disgusts me. It destroys my life; it hurts everything from my academic performance to my intimate relationships. I have trouble relating to people and completing daily tasks at times. Everything it is to be a human becomes hard if not impossible.

I do publicly identify as transgender because it is a part of who I am. I cannot hide it.

I guess I could try to. However, I am outed frequently. I am outed whenever I must show my I.D.

There are days where I desperately wish I was normal and was not transgender. But I am. I feel that for change to happen someone must stand up and if not me, if not now, then who and when.

You are beautiful like a rainbow.

In rare news…

  1. Stem cells and gene therapy worked in mice models living with Cystinosis: tissue degeneration was prevented. The disease Friedreich’s ataxia (FRDA) saw progress in their mice models as well. Dr. Cherqui has hopes of a potentially transformative gene therapy for those living with Cystinosis. Avrobio, Inc announced an investigation gene therapy candidate for Cystinosis to begin phase 1/2 clinical trial by the FDA. Read the article How to Fight A Rare Disease Or Two by Don Reed shared by the Cystinosis Research Foundation.
  2. “You can hope for a cure, but that’s completely unknown territory.” Watch the documentary based on the Tampa Bay Times article about a floppy dog, a miracle cure, a sick boy, and a reason to hope here.
  3. Read the 8 part article titled Lincoln’s Shot by reporter Lane DeGregory.
  4. Upcoming rare disease meetings for readers in Arkansas and California! Meet others, speak with legislators, and improve one’s rare advocacy skills. Check it out at the Rare Action Network! Make sure to click on State Profiles and click yours states name to register for events.
  5. Watch National Organization of Rare Diseases video sharing tips for advocacy leading up to Rare Disease Day 2019: 10 Tips for New Rare Disease Advocates From Current Ones.
  6. Karlo from Croatia lives with Neurofibromitosis Type 1: read his story here.

Meme proclaiming the valid point: Trans People Are Not A Burden. The color denotes all trans people along the spectrum of male to female and female to male.

Struggles after New Years and Rare Disease Day

Global Genes participates in World Rare Disease Day 2019.

If any readers here are familiar with the 1962 musical How To Succeed in Business (Without Really Trying), the tune of the song Paris Original is now in this writer’s head only with the words: “Some irresponsible drug (insurance) manufacturer just didn’t play fair…”

The musical number is great on the multitude of feelings females experience over other females wearing the same dress. I am singing the ballad in frustration over drug companies not making enough of a specialty medication for specialty patients and insurances private and public that haggle with patients over cost coverage.

This is not unusual for adults living with rare disease: spending the same hours in a day one would put in at work on the phone between the doctor’s office, the pharmacist, and various insurance companies and/or third party help for treatment coverage. Many parents who have children with rare diseases who then become adults living with rare diseases may still assist their adult child with these phone calls.

Cue to Progressive insurance’s (typically for automobiles) commercial tagline of “act your age: dump your parent’s insurance”. While this speaks to the general atypical adult, many adults (in every sense of the word) cannot just dump their parents insurance because it is necessary for the right to life and quality of their life. And we most definitely act our age.

My hopes and prayers go out to those in the rare community who really feel the struggle every new year in private and/or public insurance renewal as well as locking down third party assistance in medical travel expenses and rare treatment coverage.

Let’s bring about awareness to this financial issue and others associated with rare disease this February 28, 2019!

An intro video on Cystinosis, courtesy of Cystinosis United, for your visual information. This can be shared on any social media page with the #ShowYourRare #WRDD2019 #CRF #CRN:  

If you’re not sure about personally bringing awareness to rare diseases or your group/community isn’t sure yet, take a look at the National Organization for Rare Diseases (NORDs) ideas here.

Check out Global Genes new interface by learning more about world rare disease day! Click the drop down arrow below the Programs (listed in the top menu bar). World Rare Disease Day is the last program listed.

In rare news….

  1. “Why Medicaid?” Schatz wrote in a USA Today piece touting his bill. “Frankly, this program – already serving 69 million people – is underrated. It has a large provider network and the same ratings as private insurance but at a much lower cost to the government . . . Medicaid also gives states the flexibility to adapt services and models of care based on their individual needs.” Read more in the article Expanding Medicaid Instead of Medicare by Paige W. Cunningham through the Jewish World Review. I will be attending an event about why Medicare for all in Wisconsin on Saturday and summarize that for my readers in the following weeks!
  2. Transplant recipients are at a greater risk of kidney failure, cancer, elevated cholesterol, heart disease, infection, and diabetes.” Read more about scientists researching the T-cells to find a better way for quality of life in those who receive transplants as part of rare disease treatments in the article Is it Possible to “Train” the Immune System to Accept Transplanted Organs? by James Moore on Patientworthy.

The zebra is the official symbol of Rare Disease Day in the United States of America. Rare Disease Day was started by European Rare Diseases Organisation in 2008. It is now observed by over 65 nations. Check out the NORDs Show Your Stripes campaign.

Spotlight on Amanda Leigh: Author and Adult living with Cystinosis

Cover Art for Amanda Leigh’s recently released Mature Adult Paranormal Series titled Beauty of the Dark.

the following blog post is written by Amanda Leigh, Author of Holiday Hospital Stay 2012: Original Poetry, Thousands of Mornings: Original Poetry and Photography, My Heart is Yours, and Beautiful Broken: a poetry collection. Amanda is also an editor responsible for compiling with editor Amanda Buck on the book Strength: Lives Touched By Cystinosis.

Rebekah and I have known each other for….years. At least five years, I think. More, probably. She even came to visit me last year. We have a lot in common and I can’t wait to see her again!! Rebekah asked me to do a guest post for her blog….well, a WHILE ago. I kept putting it off because I wasn’t really sure what to write about. I talked to Rebekah and decided to go with talking mostly about my writing process. So, if there are any writers reading, then maybe you’ll be interested in this:

First, as I’m sure you know since you’re reading this blog, I also have Cystinosis. I was diagnosed at 9 months old. I’ve always been drawn to books and storytelling. I started telling my own stories very early on in life. Way before I could write them down myself. I have a great support system in my life but in all truthfulness, the biggest way that I cope is probably through my reading and stories (movies, shows, etc.), music, art and writing. I can’t fully explain it but even just holding a favorite book or movie or going to that place where I’m lost in the story or characters helps so much. Anyway, onto the topic. I hope I don’t “talk” your ear off.

Honestly, my process tends to change from book to book. Because each book is different, right? A poetry collection is far different than a novel. For poetry, the process is basically this: I feel the urge to write a poem, I write it. Then when some time has passed I check to see how many poems I’ve accumulated, decide if there are enough for a collection and then put that together. That’s poetry.

Novels? I think for this post I’ll focus on my Beauty of the Dark series ( a Mature Young Adult Paranormal Romance series). For the most part, my process starts with an idea. It could be a concept, a plot point or a character. For example, my Beauty of the Dark series all stemmed from this one sentence: “A witch and a vampire fall in love.” That was the beginning. I definitely didn’t realize it would turn into what it became. (A trilogy and two short stories with more to come!!??) That idea stayed in a notebook for a while. I wrote it down in 2009, wrote the first couple chapters (I’ll sometimes do this to try to get it out of my head), then I put it down until 2013. I found the notebook with the idea and first chapters and picked it back up.

The power in becoming the adult one dreamed of as a child: Amanda Leigh’s story.

The first thing I did was take notes. I took notes for six months. Notes about plot, setting, character and any random tidbits. I sat down and wrote out pretty detailed character profiles for my three main characters. Two are vampires so there was a lot of background to work through. Then I did a very rough outline. This is something that I do with almost all of my novels. It’s almost like a brain dump of main points and events I want to occur in the novel. Then I put them in some sort of order. (I am trying a slightly more structured approach to outlining with my current novel.)

I think it’s important to note here that things change. I like to do my version of an outline so I have somewhere to go but things absolutely change. To paraphrase a character from a favorite movie of mine (Crimson Peak): “Characters change and make choices as you go”. My characters probably dictate the story far more than I do. For the last book in my trilogy, Angel, I scrapped pretty much the whole second half of the outline because a better idea presented itself and I decided to run with it. It worked out well because I think that’s my favorite in the trilogy. (And just to show that every book is indeed different: I wrote a novella set in this same world and I didn’t outline that at all. I made notes as I went.)

Music is a huge part of the writing process for me. Scarred (book one in the trilogy) was the first book that I made a playlist for. I thought about the characters and the mood of the book and browsed through songs. I picked them based on that and added to it as I went. It really helps to get me in the right mood for the book or even a certain scene. If I’d hear a song on the radio that would fit, I’d make a note and add it to the playlist. Mirrors by Justin Timberlake actually gave me a huge revelation about my two main characters while I was writing Angel. I heard it in the car with my mom and burst out laughing. She looked kind of worried…haha. 😉

And then? Well, and then I write the novel. Ha!! Seriously, though, for me I find I have to write the first draft of the novel fairly quickly. I find that NaNoWriMo (National Novel Writing Month) is a great tool to motivate me to do this. You can check them out online if you want to learn more. But I do this process on my own, as well. The first in my trilogy, Scarred, I wrote the rough draft of in six weeks. The second, Burned, in four weeks. And the third took me twelve weeks. That one was SUPER hard to write. (But the easiest to edit.) Generally, I set a word count goal for myself.

I try to estimate about how long I think my draft will be. For all the BotD (Beauty of the Dark) books that estimate was 50,000 words. (They all ended up over 60,000 after edits. I tend to underwrite the first draft.) Then I think about when I would like to have that draft done and I work out a schedule. For example. I wrote Burned during NaNoWriMo. That’s 50k (50,000) words in thirty days. So that works out to 1,667 words a day for a month. But you can do the same with any deadline. Or just set yourself a word count goal for each day (or however many days a week) and keep going until you finish that first draft. If you wrote 100 words a day for a year, you’d have 36,500 words!! It’s hard to see but it WILL add up!!

And boy, is it terrific. I decided to track my words this year. Not to make myself feel bad if I miss a day but so I have a visual representation of my progress. I personally find that that really helps. I just keep plugging along until it’s done. I have some friends I talk to or send snippets to to get their feedback. My CP (Critique Partner) sees a lot and helps me out a lot. My editor is also great and I’ve gotten her feedback while drafting. If I need extra inspiration I do go to Pinterest and make inspiration boards. But be careful to not get too distracted. I’ve done it.

Also, something else I do sometimes when I get stuck while writing is I do a focused free write session. I close my eyes and picture the scene for a minute. Then grab a notebook and do almost a diary entry from the Point of View of the character I’m writing in. After I do this, I almost always have a better idea of where I’m going or what to write next. Once I even wrote a conversation with my character on paper. Like I was talking to him and he was answering. Seriously, try it. I found out why I was so stuck. It sounds “out there” but it works. That’s pretty much everything I do while writing the draft. When I type “The End” it is an indescribable feeling. It’s like a natural high for me.

Amanda Leigh and I have both felt the humor in this meme that was first posted on an author Facebook page of Amanda’s for fans of her work.

But the first draft? Well, that’s just the beginning. 😉

On Halloween I actually released my trilogy in box set/omnibus form!! So you can get all three books plus an exclusive short story in that!! It just released in paperback and it’s stunning. I am so proud of this trilogy and I think writing it not only improved my skills as a writer but helped me grow as a person. ❤ If you want to grab that, I’ll pop the link in. Here’s the blurb to see if you’re interested:

“Delicious. Tantalizing. Mysterious.”

For the first time, the Beauty of the Dark trilogy is bundled together, including an exclusive short story. Experience the intrigue, magic, romance, and heartbreak with Kiara, Trent, and Kaleib.

From a sinister demon to unthinkable betrayal to forbidden feelings…can they overcome their differences? Will Trent and Kiara give in to their connection? Find out who prevails in this epic battle.

Buy Here

And if you’re a music freak like me and want to see my book playlists (as well as all the others) you can check that out, too!! Also, if you have some songs that would be perfect for a writer penning a Dark Historical Romance, please let me know!! I adore finding new music.


I hope that maybe this was helpful to you in some way. Or inspiring or interesting. Thank you so much to Rebekah again!! ❤

Amanda Leigh ❤

In rare news…

  1. One may recognize the name Huntington’s Disease because of taking the treatment Cystagon (cysteamine) for Cystinosis. Cysteamine has been used in medical trials to treat health problems associated with Huntington’s Disease as well as Parkinson’s Disease. A press release went live January 22, 2019 discussing the trials for gene therapy in Huntington’s Disease.
  2. The U.S. Federal Food and Drug Administration has halted human trails for the treatment of orinthine transcarbymalase deficiency (OTC) due to clinical and non-clinical questions. The company expects communication with the FDA shortly. Read more in their press release which went live January 23, 2019.
  3. Kristen Anthony, President of PTEN Hamartoma Tumor Syndrome Foundation, reveals her hardest lesson learned in starting her foundation: “There are politics in everything. I would say every advocate in our space starts with a simple desire to do good. Then, we dive in and learn there are many twists and turns to achieve that goal. My advice is to tune out the noise, negativity, and drama. Keep your patient-first philosophy and be kind to everyone.” Read more about her and her management style in Global Genes interview here.
  4. Learn more about what you can do whether you are living with a rare disease, love someone living with a rare disease, or would just like to see your community more aware and advocating for those living with rare diseases. From hosting an event to donating, check out the National Organization for Rare Diseases’s suggestions here!

Scarred, Burned, and Angel is the Beauty of the Dark series.

Gene Therapy Treatment for Cystinosis

Approval for Clinical Trials for Stem Cell and Gene Therapy Treatment for Cystinosis

Cystinosis Research Foundation published a press release titled CRF Announces Federal Drug Administration (FDA) Approval for Human Clinical Trials for Stem Cell and Gene Therapy Treatment for Cystinosis.

Dr. Stephanie Cherqui’s work in the ongoing unraveling of the rare disease Cystinosis has opened new perspectives in regenerative medicine and application for other medical disorders.

Currently, phase one and two of human clinical trials for stem cell and gene therapy will be held at the UC San Diego Health in San Diego, CA. Recruiting is tentatively sent for this winter.

Individuals must be 18 years old or older and meet stringent eligibility requirements to participate in this medical study. Priority is also given to U.S. people living with Cystinosis.

The adult must have a diagnosis of Cystinosis and of early onset Fanconi syndrome, a history of elevated white blood cell cystine level and/or a presence of cystine crystals in the eye.

The adult must be at least 1 year post kidney transplant. They must also have adequate blood, thyroid, kidney and liver functions. They must be willing to use highly effective contraception whether biologically male or female.

The adult must be willing to comply with the study restrictions and requirements in addition to discontinuing cysteamine therapy (Cystagon/Procysbi/Cystaran) for various periods of time while in the study.

The adult must have with them a family or friend caretaker who can be available during the study.

To read the original press release and to access the complete clinical trial inclusion and exclusion criteria pdf please click here.

In rare news….

  1. National Organization for Rare Diseases uploaded their webinar to aid adults living with rare disease and parents of people living with rare disease. Lisa Massey addresses navigating authorization and appealing adverse decisions. I recently had to advocate for myself between my eye doctor and Walgreens Specialty pharmacy for my Cystaran. My eye doctor kept sending my prescription to the hospital pharmacy versus Walgreens Specialty which resulted in a 7 day delay in my drug. Knowing the language of the doctor’s office and pharmacy technicians is exhausting and time consuming especially if the communicators at the doctors office and the pharmacy are not reviewing your scrip and consistently reading notes from other communicators one may have talked to previously. Give this important YouTube upload a listen: How to Make Your Health Insurance Work for You.
  2. Read an interview with Scarlett Eagle, a college student living with Hypermobile Ehlers-Danlos Syndrome. Rare Disease Awareness Club provides Rare Impact topics on college campuses like diagnosis, treatment, research, psychological implications, financial burdens, and the annual Rare Disease Day in February.
  3. National Organization of Rare Diseases claims the rallying cry “Show Your Stripes!”for Rare Disease Day 2019. The zebra is the official symbol of rare diseases in the United States of America. Even though each of the over 7,000 rare diseases is unique like an individual zebra’s black and white stripes, there are many commonalities that make those living with any rare disease a community.
  4. Donations to the American Cancer Society could result in Super Bowl tickets with Vanessa Hudgens and a meet and greet with Maroon 5. Donors can enter by January 25th at the link posted before the embedded articles from the National Organization of Rare Disorders featuring Rare Disease Day and Scarlett Eagle.

Rare Disease Day 2019 Poster

Rare Bodies Part 2

*The following poem written by Marilyn Nelson is in commemoration of the slave Fortune’s life. Fortune was a father, a husband, a baptized Christian. and a slave owned by a doctor in Massachusetts in the 1700s.

I met Marilyn Nelson in 2013. After I heard her read this poem, I talked with her about how it resonated with me as a survivor of child sexual abuse and an adult living in a rare disease body.

Intersectionality has always intrigued me because of the diversity in story telling from multiple viewpoints. A person is more than their race, gender, sexuality, religion, ethnicity, nationality, and ability: just one single person is a beautiful kaleidoscope of their race, gender, sexuality, religion, ethnicity, nationality, and ability.

Not My Bones by Marilyn Nelson

I was not this body,
I was not these bones.
This skeleton was just my
temporary home.
Elementary molecules converged for a breath,
then danced on beyond my individual death.
And I am not my body,
I am not my body.

We are brief incarnations,
we are clouds in clothes.
We are water respirators,
we are how earth knows,
I bore light passed on from an original flame;
while it was in my hands it was called by my name.
But I am not my body,
I am not my body.

You can own a man’s body,
but you can’t own his mind.
That’s like making a bridle
to ride on the wind.
I will tell you one thing, and I’ll tell you true:
Life’s the best thing that can happen to you.
But you are not your body,
you are not your body.

You can own somebody’s body,
but the soul runs free.
It roams the night sky’s
mute geometry.
You can murder hope, you can pound faith flat,
but like weeds and wildflowers, they grow right back.
For you are not your body,
you are not your body.

You are not your body
you are not your bones.
What’s essential about you
is what can’t be owned.
What’s essential in you is your longing to raise
your itty-bitty voice in the cosmic praise.
For you are not your body,
you are not your body.

Well, I woke up this morning just so glad to be free,
glad to be free, glad to be free.
I woke up this morning in restful peace.
For I am not my body,
I am not my bones.
I am not my body,
glory hallelujah, not my bones,
I am not my bones.

Remember if you are an adult reader living with rare disease or a loved one of an adult living with rare disease, you may submit work in consideration of being a guest blogger on Cystinosis Society. Submit to

In rare news…

  1. Eric David talks about Canavan disease in this RareDaily. Canavan disease is part of lysosomal diseases due to the children being born missing an enzyme. He makes a statement in answer to a question regarding treatment of Canavan disease that the experiments in gene therapy will be made available in the USA. Depending on where one lives globally is a huge factor in treatment and diagnosis for rare diseases. Listen to Aspa Therapeutics Forges Gene Therapy for Rare Neurological Condition.
  2. Third party funding is a necessary option for rare disease families in their medical care. What do you think? Read Author Rebekah Palmer’s article Third Party Medical Providers: a Necessity for the Right to Life. Any person is welcome to click the blue button “Join PW” to get updates on the rare diseases they are interested in on Patientworthy. With an account courtesy of “Join PW”, a person living with rare disease can submit their experiences in article form for this rare news website.

Rare Disease Day is February 28, 2019

Rare Bodies

Cover art for Two Girls Staring At The Ceiling by Lucy Frank

In 2018, one of the more impactful books I read was titled Two Girls Staring At The Ceiling by Lucy Frank. While the disease these women lived with is Crohn’s Disease, much of the poetic statements from both women revealed the frustrations when one’s body is either ravaged by the disease or by the treatment given in hopes of attempting quality of life for the person with the disease:

“I wish I could be just me. Without my body.” pg. 105

“When all I want is to jump free of this body and disappear.” pg. 155

“There is no better here. This is me. With a horrible disease that never goes away. Can you protect me from that? Can anyone protect anyone from anything? Because I am sick to death of protecting you!” pg. 159

“What does better mean for somebody like me?” pg. 175

“How can I be so mad when my little drama, little life feels a zillion miles away?” pg. 197

“I thought the thing about being young is that–you don’t have to think about your body–if it’s gonna make it through the day.” pg. 189

“How do you know who you are when you can’t trust your own body?” “How do you act when you’re so mad, so scared of what’s inside?” pg. 210

Many of these statements fit my experiences with a body that not only has a diagnosis of Cystinosis, but also is a kidney transplant recipient, is a post cancer and also post chemotherapy body, and is also a body that deals with migraines, fibromyalgia, irritable bowel syndrome, and type 2 diabetes.

If these statements resonant with you or someone you love, please feel free to contribute to this blog. Importantly, if these statements do not resonant with your pain experience or that of someone you love and you have other words to describe how your body handles pain, please feel free to contribute your thoughts as well.

Strength: Lives Touched By Cystinosis is a rare disease anthology edited by Amanda Leigh (an adult living with Cystinosis) and Amanda Buck (a mother of a daughter living with Cystinosis). It contains stories and poetry from those living with the disease in their bodies as well as parents and other caretakers of children with the disease, and doctors who have treated the disease in children and adults. It is available on Amazon.

In rare news….

  1. The Cystinosis Research Network funded an adult group called Future By Design in late 2016 spearheaded by Aimee Adelmann and Jenn Loglisci. It was called Future By Design in hopes for adults living with Cystinosis to impact the future of their treatment. CRN recently dissolved the group and announced the Adult Leadership Advisory Board. The ALAB mission will be similar to Future by Design, but will provide training to facilitate the adults in achieving the group’s goals. If any adult living with Cystinosis is interested in participating, please click the link here.
  2. Aimee Adelmann is the vice president of education and awareness for the Cystinosis Research Network and is overseeing an Oregon group called Women Encouraging Living Donation in Oregon. Read about her emerging work for Donate Life Northwest in Oregon Public Broadcasting news.
  3. For those readers in the Boston, MA area, the National Organization of Rare Diseases Rare Action Network has a free advocacy meeting on January 23, 2019 from 8:30am-3pm. A select group of individuals will accompany advocates to the state capital for legislative visits on January 24, 2019. For more information and to register, click here.

New Year 2019: Opening Thoughts

Spring 1995 The Blue Hills News

This spring I will be turning 32 years old. When my mother was 32, it was 1995 and she had me, her 7-going -on-8 year old daughter. I had been diagnosed with Cystinosis three years prior at the time.

My father’s mother took me to a bookstore in Rice Lake, WI because it was hosting a party for American Girl dolls. The photo above is an excerpt from that party and the wondrous gift I received there.

In November of 1995, my mother and my grandmother took me to another event for the American Girl doll, Samantha. The theme was Samantha’s ice cream social. Since I had won the doll, my mother made us matching dresses and we took grandma and set off for the social.

My mother and I with American Girl doll Samantha.

As I look at this picture, the predominating thought that fills my heart and mind is this: My mom is 32 in this picture and I will be 32.

In November of 1995 at the age of 8, my parents were managing my Cystinosis medication, which at the time was given every six hours. They were taking me to doctors appointments related to my bones and muscles because of the damage rickets had caused.

Due to my kidney function being so low and Cystinosis causing those kidneys to filter out calcium, magnesium, vitamin D, and all other nutrients, we were on a timeline for knee surgery and kidney transplantation within the future four years.

And now I will be 32.

While my rickets were corrected by surgery and my kidney transplant is still showing good numbers, I now manage transplant rejection medication and various vitamins to aid in bone and muscle health as my neck and upper body now show signs of muscle wasting.

My mother is able-bodied and was my major health caretaker when I was a minor. She inspires me because she does not have the experience of severe illness in her body, yet she cares and is compassionate in her kindness towards others who do.

When I need a ride to doctor’s appointment over an hour away, she still drives me to my preventative care appointments. If my medicine causes more severe side effects one day or a virus makes taking daily medication difficult, she still assists me in my care.

That is inspiring to me: a person who cannot empathize, yet shows kindness and care even when their mind and heart is not experiencing what the disabled body is experiencing. Sympathy can be powerful.

In rare news…

  1. Biotech Showcase 2019 in San Francisco is January 7-9. This is an event for rare disease innovators and investors to partner with those developing drugs for the rare disease community. Global Genes is hosting Rare in the Square.
  2. Learn more about how patients leading collaboration with drug companies is causing transformation in drug discovery and development with rare disease by listening to Global Genes interview with Walt Kowtoniuck. He will be one of the speakers at the Biotech Showcase.
  3. Rare Disease Day is February 28th! I hope to gear up for the day by posting weekly information on what the public can do from their home and social media to make others aware of rare!

As a member of the rare community, I recognize that by collaborating with others we can do more than acting alone. I have committed to THRIVE to empower others in the rare community. Join me at