In Search of Community I Need….

[Image Description: In the US, 1 in 5 adults will experience a mental illness in the course of a year, with anxiety disorders being the most common among them. This quote is on a blue background with the Next Generation of Cystinosis logo ( blue, black, green, yellow, and red gender neutral people holding hands in a circle with the words Next Gen Cystinosis beneath them) in the right hand corner as well as a semicolon symbolizing the continuing story of those living with mental illness.]
Source Cited: Ch 1. Understanding Our own Minds – by Jeffrey Kluger – pg. 4-7

I may be reiterating this, but it is crucial to understanding the background of an adult living with a rare disease not fitting into the organizations already out there designed to support children and teens living with cystinosis as caregivers and parents see fit.

The thing I may be reiterating is that I did not grow up surrounded by families with children who also had my disease and their non-cystinosis siblings for my family to communicate with and vice versa.

My mother received regular phone calls from Jean Hobbs-Hotz of the original Cystinosis Foundation, and once we had a pediatric nephrologist who saw me after diagnosis cystinosis at age 5, that was it for outside help.

I wasn’t contacted by any Cystinosis Research Network or Cystinosis Research Foundation. In 2011, Jennifer Caughlin of Caughlin Research invited my mother and I to a townhall. Even at that time, my mother felt like she was no longer a fit in the community as a parent of an adult with cystinosis.

It took me a bit longer for my displacement to sink in but my outsider lense became apparent as soon as I felt the USA organizations were interested in me and my skills as a token to promote within their established leadership, and not an adult who has lived experience with cystinosis, is a subject matter expert on SSI and disability needs, and is also a trained speaker and writer.

I thought about sanding down my edges to be the puzzle piece that fit inside their youth group type adult groups–both inside of Future by Design and in applying for Adult Leadership Advisory Group. I didn’t want any conflict of interest in my advocacy outreach to different rare disease adult groups so I opted to continue studying my communication profession from a far rather than within the parent organizations.

Because I am not some adult who has aged-out of the youth group, I am a privileged adult woman who is college-educated (yes, it is through my white, and then middle-class privilege that I am in institutions of higher education, not my merit) and possessed of leadership skills in speaking and writing on certain subjects and topics, I have embraced a controversial existence.

Author Rebekah Palmer aka Debby Downer of the blog Cystinosis Society standing in front of a bird feeder. She is wearing a crimson, flannel dress shirt and gray pants. Her glasses are large and blue frammed. She sports an AWARE rare disease zebra striped necklace. Her ring finger on her left hand as henna around it. In the background are pine trees and deciduous trees, logs stacked in a row, and dried leaves on the grass as the photo was taken fall of 2019.

I have almost 33 years of lived experience which include the microaggressions and out-right abuses from institutions for being disabled, female, and queer. Yes, it was at a CRN conference in 2017 where I was uplifted because an editor from Patientworthy noted my professional value and human worth beyond medicine that I started writing regularly for that rare news website.

It was Horizon who noticed I would speak with honesty and truthfulness about what needs in the adult community are being either blatantly ignored or being re-packaged as work the adults do in support for the teens and children or just being re-narrated under the umbrella of comfortable rhetoric to assuage caregivers and parents.

With Patientworthy and Horizon asking questions and introducing me to a wider audience within rare, I wanted to do more for the adult community than just offer tokenism or patronizing support in the form of segregated groups when simply giving board positions to those adults with cystinosis qualified to lead would have answered adult pleas for resources and help from the established organizations. Keeping adults with cystinosis in previous positions and listening to their suggestions by leading with their recommendations would have acknowledged the dignity of older adults living with cystinosis, I would be remiss not to mention here.

When my friend Mika Covington messaged me to ask about joining her effort to start an organization that would be led by adults with cystinosis for adults with cystinosis, I said yes to informing the community about adult needs and educating the public about the existence and persistance of adults living with cystinosis.

It is so important that those of us adults living rare are visible and leading our own narrative instead of sifting it through able-bodied caregiver and parent lenses. Why? Because those who care most for us, do not necessarily live the daily stress of life along with a rare disease.

They don’t date with the thought of when do I reveal my condition to a potential partner. They don’t work with worries about bosses and coworkers inquiring about the smell of our treatment in our bodies, and if or when we should let jobs know about outcomes scheduled medical appointments or emergency visits have on our health. They don’t apply to secondary education keeping communication open with professors and teachers. They don’t worry about keeping compliant on medications when state insurance is our only option in certain times of our lives and many times we don’t have a good option for paying for drugs with our employer’s plan.

Next Generation of Cystinosis: “Next Generation of” is written in black “Cystinosis” is written in green. Tag reads Run By & For Adult Patients in grey and green alongside the symbol of blue, black, green, red, and yellow non-gender specific people holding hands.

They don’t worry about living with other conditions besides cystinosis. Many of us in the cystinosis community are also the 1 out of 5 with mental conditions. Many of our stories also include other traumas like sexual abuse, domestic violence and neglect, and living below poverty levels. Some of our stories depend on background, race, ethnicity, culture, gender, faith, and sexuality and how living with cystinosis shapes those aspects as well.

We need something we have created ourselves. Not something caregiver and parent approved as we are the parent and caregiver, some of us of more than just our own lives but of biological and adopted offspring and spouses/partners.

I am incredibly proud of certain peers of mine making things happen on their own. Those who have started groups under the organizations only to see it disappear: you did something no one else as done before and you were the inspiration for the current group assisting CRN.

Please. Reach out to Next Generation of Cystinosis if you are an adult living with cystinosis and be a part of history as this is a group of adults living with cystinosis using their skills to create and lead our own narrative in the community and the world.

We do consider people who are non-cystinosis as advisors, but our bylaws state our group will always be at least 60% run by those living with cystinosis in their bodies. We recognize ally support is essential, especially as they listen and ask questions for our improvement.

If you are in need of inclusive community, I hope you find that space where you can grow be it with us or in the adult and teen community groups or your own inspiration of creation.

Image Description: Close up of pink Rose flowers bush with one white rose. The foremost wording is a quote from a poem in Map of My Heart by Rebekah Palmer and it reads, “When you’re twelve and the doctor says cancer you start to feel that maybe you’re really eighty-one or seventy-six or one-hundred and five”.

This Brave New World 2020

Image Description: Newspaper, coffee cup, pens, calculator, paper, clipboard, and laptop all sprawled out in a half circle with a woman’s arms and hands in the center. Her fingers are tapping on a cell phone. Side note: please keep your digital devices sanitary as always.

If you have white privilege and you belong to the middle to upper class in the United States, you have had access to medical care and other patient families living with your condition. You have probably had resources like departments of vocational rehabilitation and have had your needs accommodated to attend a college of higher education or job placement.

I fall into these spaces as I have had assistance as a white disabled female in university (side note: I did not have access in Bible college because it was an unaccredited religious school with no students with disabilities services). I was taught by someone associated with a department of vocational rehabilitation to create and write specific cover letters to go with resumes. I apply for government grants and loans for schooling and have received them due to my income falling below poverty level.

The advice given to me concerning absences and late work and mobility was keeping in contact with each professor and teacher. In fact, much of my self-advocacy with my doctors, pharmacy techs, and insurance billing was practiced from middle school onward because of the amount of communication I needed to have with my schools and work places. I am skilled in spoken and written forms of communication and it would be appropriate for someone like me to work in this field.

When I started getting the emails due to the coronavirus in my current university inbox, my first reaction was to chuckle as the communications department and chancellor was asking for encouragement for those who needed to be absent from class for longer periods of time. Instructors were actually requested not to ask for medical proof of absences as well as no longer using the dean’s office to submit documentation for medical absence. Students were asked to directly communicate with staff about their condition in order to ensure timely work accomplishment.

Campus culture is not so far removed from societal expectations in the work force as many people think. And this is made clear when one has lived in a disabled body since birth and had to acclimate to school policy instead of the school policy being lenient in fair ways to their existence and participation in the school.

Work and job placement for someone who has had to ask for access and accommodations in education is only exasperated because of the reality of employers paying the disabled person for a job. If the disabled person has the job capabilities just like an able person, corona virus has now ensured that it is doable to work from home while getting paid, online is an alternative for in-class absences, and online is a place where work-related conferences can take place. It will be telling who society has placed more worth and value upon if we go back to limiting access and accommodations after the general population pandemic is over.

So my secondary reaction is anger. I feel angry as my energy and mental and emotional space continues to be taxed because living inside a disabled body is inconvenient in a world designed for the well side of humanity and nothing in between, let alone the ill side.

I thirdly feel a sense of justice in my anger for all people living with disability and hope our reckoning comes because of the environmental changes occurring as coronavirus is affecting humans globally.

Image Description: two silos and a barn and farm buildings in the distance while a cornfield is up front. Picture is from 2019 in Dunn County, WI.

And in all reality, blogger and media specialist Jessica Jondle and I posted updated information for adults living with our disease, cystinosis, and the current covid 19 pandemic:

Here is a statement offered by Dr. Richard Simon, pulmonologist and cystinosis researcher at the University of Michigan, to our adult population:

[Image Description: Cystinosis and COVID 19 “People with cystinosis and significant respiratory muscle weakness who develop pneumonia during COVID-19 have a greater risk of needing intensive care unit treatment and breathing assistance with mechanical ventilation than if their respiratory muscles were strong” Dr. Richard H. Simon, MD Pulmonary and Critical Care Medicine Division University of Michigan Medical School]

******

“I have been asked if the respiratory problems that can occur in some adults with cystinosis should place them in the ‘high risk’ category for severe consequences if they become infected with the SARS-CoV-2 virus that causes the disease, COVID-19. Before directly answering this, I believe it worth noting that the majority of adults with cystinosis are kidney transplant recipients and are taking immunosuppressive medications to prevent rejection. This places them into the ‘high risk’ group as defined by the Centers for Disease Control and Prevention (CDC). Therefore, the CDC recommendations for the high risk group should apply to most adults with cystinosis, regardless of their respiratory status (https://www.cdc.gov/coronavirus/2019-ncov/index.html, see ‘Older Adults and Medical Condition’ section. More information about COVID-19 for transplant recipients can be found on the website of the American Society of Transplantation (https://www.myast.org/covid-19-information).

Some adults with cystinosis develop weakness of the muscles that are used for breathing. The lungs themselves in people with cystinosis are usually normal, unless they have another lung condition unrelated to cystinosis. If muscle strength and endurance are normal in someone with cystinosis, then the risk of severe disease from COVID is no further increased above what it would otherwise be. But those who do have significant respiratory muscle weakness will have more problems if they do develop pneumonia as part of COVID-19. A person with pneumonia needs to ventilate more to compensate for the lungs being inefficient at getting oxygen into the body and carbon dioxide out. Furthermore, it takes more work to inflate lungs that have pneumonia because of secretions plugging up some of the airways and the lungs themselves are less complaint. Therefore, people with cystinosis and significant respiratory muscle weakness who develop pneumonia during COVID-19 have a greater risk of needing intensive care unit treatment and breathing assistance with mechanical ventilation than if their respiratory muscles were strong. For this reason, I would consider people with cystinosis and respiratory muscle weakness alone to be in the “high risk” COVID-19 group. All of the CDC recommendations for those at high risk would apply to them.

Determining whether someone has respiratory muscle weakness is best done by formal pulmonary function testing that measures the maximal amount of air someone can blow out after taking in the deepest possible breath. A level below approximately 70-80% of normal would suggest respiratory muscle weakness. Pulmonary function laboratories can measure respiratory muscle strength by additional methods. Another suggestion that respiratory muscles are weak is if someone becomes uncomfortably short of breath after climbing less than 2 flights of stairs, assuming there is no other reason for it. For more information, it is best to consult your healthcare provider who knows most about your cystinosis.”

Richard H. Simon, MD
Professor and Associate Chair for Faculty Affairs
Department of Internal Medicine
Pulmonary and Critical Care Medicine Division
University of Michigan Medical School

The Absence of Disability Awareness

Image Description: A black woman, a black girl, a white woman, a white man, and a black woman are raising their palms that are painted in either yellow, blue, or purple colors. The text reads Rare Is Many and gives the hashtag #RareDiseaseDay and the website rarediseaseday.org for more information.

I feel so lost in my disabilities because no one sees disability. Society thinks if disability rhetoric is erased then the medical costs, treatment options, and mental and emotional health can be regulated and eventually be absent from the world altogether.

This lack of disability language is glaringly apparent in conferences and spaces reserved for those who live in bodies that adapt to living as their bodies allow. Especially in a rare disease space will no one normalize the word “disability” because that word is equated with “less than” be it less intelligence or less accolades on how inspiring one child is over another and which one of us is worth the time, space, and care more disabilities entail.

Caregivers and relatives complain about their offspring or those in their care be they children, teens, or adults. But when these children, teens, and adults offer up their own complaints they are asked to be thankful for the able-bodied caretaker and relative in their life for meeting their needs and cares. Not an equality of discussion on the topics and issues but on respect for authority.

The able-bodied caregivers and relatives have resources, energy, and validation to control the narrative of healthcare.

I just represent the work they do. Not even the poster child, because that would mean I’m beautiful. No, I’m the freak in their circus show–the entertainment as its cute and annoying I have PTSD not another disability to manage and bring awareness and education to as disabilities are more present in humans than not.

I sit and exist in rare disease spaces so those more able-bodied can feel whatever it is they need to feel and then energize themselves to go out and love and excel in a world unconcerned that the able are exploiting the disabled by disregarding what we really need out of our own healthcare.

Look what she can do. Look what Rebekah is: a speaker, a writer, an actor. We created her and without us she is nothing.

Image Description: female laying on the floor wearing a red dress and red high heels. She is surrounded by green, blue, and yellow balls. This image also appeared in blog post The “D” word surrounding the topic of disability in April 2019.

Leave this Disabled Body

By Rebekah Palmer

Slip on my shoes

tie the laces tight

and walk a mile

perhaps go even two.

the accolades you will begin to receive

will be because you were born, what body you’re in,

not because you are living your life.

A medical miracle emphasized

over participation in sports–

making the grades–

graduating with the class–

getting the promotion at work–

sending the wedding invites–

adopting a child–

rearing many children–

or no human souls at all.

Am I still a miracle if none

of these things is accomplished by me?

Or if I am a high school dropout

divorced 

jobless

homeless

dead?

Am I still brave when

my days are spent in tears

on the couch or hospital bed?

Or is it only when I’m in the spotlight

performing for the people

so they know it’s easy, nothing to concern them,

life existing and living in 

a body different than the common?

Now stop walking

those miles in my life’s day

loosen those laces

shimmy off those shoes

Did you feel the weight I carry

or did you feel blessed and inspired by many?

Perhaps it was both you felt

or maybe just nothing.

Image Description: Three hands, palms facing forward, with blue, purple, and green paint on them. Text reads We Are the 300 Million and includes #RareDiseaseDay rarediseaseday.org as well as the official Rare Disease Day Logo with 29 February 2020 below the logo.

Kara: Aware Advocate of Adults living with Acromegaly

Image Description: Green, Pink, Blue hands fanned out above a gender neutral image of a human being. RAREDISEASEDAY.ORG below the image.

The following interview I conducted was recently published on Patientworthy on January 17, 2020:

Let’s Have A Conversation About What Affects Adults With Rare Disease

Since April 2019, I have been actively seeking out adults (18+) who are willing to publicly share their stories about their lives with rare and chronic diseases. I feel it is essential that the rare community include and listen to those adults living with the illness in their body otherwise legislation for rare community, social structure in rare communities, and the general public knowledge of living rare and chronic will not gain any traction in the future of medicine. 

Recently, I spoke with a beautiful adult woman named Kara. She has lived with Acromegaly for the last 23 years of her adult life. Acromegaly is different for every person diagnosed. For Kara, she had a couple precursor diagnosis,Polycystic Ovarian Syndrome and insulin resistance, before she found doctors and specialists who would take the time to diagnose and treat her Acromegaly and Small Fiber Neuropathy. 

Kara has a bachelor of arts degree in Graphic Design. She currently lives in Greater New York City with her husband and is active in the arts and advocating to have her life with rare disease validated. She uses #AcromegalyLife and #DisabledArtist on her social media accounts to bring awareness for others to understand what living rare and chronic can look like. 

I was struck by our conversation on the phone when Kara related that adults living with rare and chronic conditions tell their story so much in the medical world that it has become exhausting to relay it over and over again in the community support groups. She continued to explain her meaning by saying adults have lived either their childhood and teen years or both (or having received a diagnosis as young adults) repeating their symptoms and diagnosis information. With this background, adults would rather have conversations about the issues affecting them instead of repeating the logistics of what parents, medical providers, caregivers, and advocates have been saying about them for years.

I decided to ask her questions about some issues that need to be heard by the world from the mouths of the adults living with the disease themselves instead of the caregivers:

1. When we spoke on the phone a few days ago, you mentioned “I’m tired of telling my story; I want to have a conversation”. I thought this succinctly and adequately revealed what adults living with any kind of chronic and rare disease feel like, especially if they have been dealing with illness since birth or later teen and college-aged years. Could you tell me more about the conversation that needs to happen in the rare community and in the general public (i.e. the phrase heard by many adults “But you don’t look sick” and “do you work”?)

In the early stages of my chronic illness self doubt crept in. I did not feel confident that I was still creative. That I was still a graphic designer who had a talent and could work with others. I hurt – chronic daily migraine, neck and arm pain shut down thought processes and creative flow. Eventually, I got over it. If I can get over it so should the community at large: I got over my doubt and did not lose my creativity or ability to do the work. If I can get over my insecurity, then employers should be able to get over the fact that I have an illness. I am still creative and professional. They have to get past the “sick” part and offer options to be inclusive.

Not everyone with acromegaly becomes so damaged. I feel like I am made of broken popsicle sticks held together with duct tape. My husband hates this phrase but it has been my truth for a very long time. It is also a very vivid description of what I feel and it helps people understand.

But what about last Month… The weather was crisp and clear, my head was my manageable seven out of 10 on the pain scale (yes, every doctor realizes that it is absurd that I learn to function at a constant seven but an eight forget it)… So on this Tuesday I can paint a flower or two. I can make it into a pattern, put it on mugs, home decor or sell it out right. But people don’t see me. I need to be acknowledged for my talent and my disability.

2. You were quite vulnerable and honest about your life as an adult with an advanced degree who wants to work but is hindered by symptoms and side effects of ongoing illness. You mentioned feelings of being stuck between “I don’t feel well enough” and “I can start but can I finish?” Could you describe how these feelings and physical barriers in Acromegaly dictate your life in paid and unpaid jobs?

A year ago a dear family friend was opening a gym on a shoestring budget. Remember I am valuable, I am talented and I am worthy… But my schedule is wonky due to health. It is my choice to give him my talents and in turn he sends me a little bonus thank you now and again. It covers a blowout (it’s too painful to do my own hair) or a massage or a new pair of pajamas. I live in pajamas or let’s be politically correct, loungewear.

I have a few of these friends that are close to my heart, they deserve professional design to represent their business and I get to be creative.

Creating, be it graphic design, oil painting or watercolor soothes my weary soul. It is therapy.

I have one “real” client. A summer youth program. The youth program hits all the markers, a fresh design, kid oriented (my favorite) and a short and flexible time frame. They get a sweet deal and my soul gets refreshed.

I want to work but I cannot commit. Why? Because yesterday I was able to walk and today I am unable to hold my head up… I don’t know if this will last a day or weeks.

Who would hire me? I would need to work from home. I would need my hours to be random and flexible. As long as I can make the deadline – why should they care? But they do.

The youth program is run by two people. The head of the program knows my honest truth and I appreciate him. He is kind, compassionate, respectful and a rarity, easy to work for.

I want to be heard, seen and respected because of my abilities and my disabilities.

What if Social Security Disability had a program that acknowledged my education and valued my talent? What if companies registered with the program and had deadlines but planned ahead, budgeting in extra time so that I may fulfill their needs? What if they were willing to hire designers for a fair wage, on a per project basis that didn’t affect government disability? Because let’s be honest, a project or two does not make a salary and it does not better my financial situation. But that money does pay for a massage a week or a personal trainer because I need to be watched because of structural damage – and I could go back to Pilates!

Sidenote: pills do not fix me. If insurance paid for Pilates, Rolfing, Massage – I could have a better quality of life. But it doesn’t, so I’m always stuck. And doctors are constantly telling me to do these things… where is the money coming from?! I’m allowed to have a hobby but it doesn’t pay for a massage a week. It’s random at best.

What if I bought all the never covered supplements doctors recommend but I cannot afford each month? What if doing a project to earn the money for these life-changing things wasn’t held against me and threatened my Social Security Disability?

Might I have a better quality of life? Don’t I deserve that! Don’t we all? But none of that exists. I feel cheated. I wish my body worked. I wish I could have a regularly paying job.

I fake being well… When I can. If I can’t, I’m on the couch or desperate to get there. Sometimes my voice betrays me – no matter what I try.

But I’d still like to be offered meaningful projects that fit my abilities as an educated, talented individual. This would work for so many of us with degrees — just looking for a few projects here and there.

Why is it one or the other? Why are you penalized if you are sick? Why are we dismissed? Isn’t being chronically ill punishment enough? Yet everything else is taken away and it doesn’t have to be.

The rare disease and invisible illness communities needs to join as one. Not just each disease in its own bubble. We have similar if not the same experiences.

We, the disabled, the largest minority in the US need to band together. We check off all the boxes, sex, race, religion, economic status… But there is no bridge. There is no support. Why can’t we change this?

I can’t volunteer in real life. I can’t commit to Thursday at 4 PM every week. Who knows how I’m going to feel from day today, if not hour to hour.

Being in a government program means being subjected to one size fits all solution. When in life does one size fit all?

I miss real life encounters. They are hard and exhausting but filled my soul for a bit… And I’ll take it but it’s rarely an option offered me. I wish I had the energy to start something, but I don’t. I like to contribute and be a part of society.

I know we deserve better and I know it is possible. The fact that it is possible but no one with authority and ability ever bothers to try leaves me trapped. No one wants to be trapped, yet I am in so many ways.

Although all these negative things are my truth, I try not to dwell. The other part of my truth is that I look for the joy in life and hold on to hope. It’s better than the alternative.

Image Description: two cups of lattes on saucers with spoons next to the cups. There are designs in heart shapes in the foam on the lattes.

#DisabledArtist #AcromegalyLife Spread awareness on Instagram!

Representation of Adults Living Rare Matters

Melinda Brunk as the Old Hag and Rebekah Palmer (living with Cystinosis) as the Grandma in Menomonie Theater Guild’s production of the Snow Queen 2019. Photo credit: Karl Palmer.

Image description: Melinda has black-ratted hair and a gray, white and black top. Rebekah has ear and neck length blonde hair with a lacy, frilly white blouse and a red and blue patched vest over the blouse.

Two years ago on September 1, 2017, Rebekah Palmer penned this plea and poem that was published as the final comment from an article post on the rare news site Patientworthy and titled “Why Do Children Suffer with Rare Disease, but Adults Just Live With It”?

“I don’t get many questions about life as an adult living with rare disease for the local paper
much now. I am post transplant 18 years and post cancer 17 years. I’m not the kid with the impish grin, squinting into the sunlight, and holding a baseball bat, playing little league right alongside my peers. I am a 30 year old woman (still with the impish grin), but with sunglasses on and holding onto my purpose, working at the mundane tasks in life right alongside my peers trying to figure out what my normal is as they are. The difference between the child suffering and the adult living? There’s no drumroll and cheers to point me out, yet in many ways I have more reason to be speaking about life with rare disease than ever. If I suffered as a child, I didn’t let it bother me. I could smile for the cameras and let everyone see that disease doesn’t define me while waving their banner of inspirational. I didn’t have any of the cares and responsibility that living longer on this earth brings. Thankfully for treatment, I am enjoying life longer and with that freedom, I now know the care and responsibility that comes with Cystinosis.

I saw it on the adults faces then. I am that adult face now. I don’t need recognition or a pat on the back for suffering with a rare disease. I need community for living with it.
The Orphan Drug Circus

“Orphan illness! Orphan drugs!”
the lone ringmaster bellows
when no media run the advertisement
when no foundations champion the banner.

This world finds the idea of rare
an illusion, a distortion only suitable
for draining dollars from the participants
in government sponsored studies.

Maybe it’s the spectator pharmacies
worried only 500 people will need their pills.
Maybe it’s the CDC worried about grants
that only will help a single digit percentage in population.

This world finds the idea of rare
an enigma when it’s part of children and teens lives.
Go fund me and nonprofit organizations light up online.
Rare is amusing, profitable, entertaining

as social media laps up the unbelievable,
the impossible drama laden show.
When the child is in utero or an adult elderly
society hands a death sentence.

The zygotes and matured bodies of post pubescence
are not as relevant to community.
Let’s get loud, clear, real about orphan disease:
Guess what world?

Those enigma children and teens grow up
when treatments work.
Those elderly adults
share their stories and teach us longer.

When the Big Top folds up
and the clowns remove their masks
“Orphan illness! Orphan drugs!”
are freakishly inconvenient

by a world which finds special needs
a privilege to thank God,
not a God-given right.

Stanza from a poem included in Rebekah Palmer’s recent title available on Amazon: Map of My Heart.

Image Description: black soil with a green sprout photographed from above. The following words are written in bright green on either sides of the plant: He crumbled the ground and started the rain from knowledge and humanity grew from the tree of life. Map of My Heart Rebekah Palmer.

Organizations assisting with the over 7,000 types of rare diseases now claim that 50% of rare disease people are adults. If this is true, why is there not at least half of the time spent at rare disease conferences focused on specific adult issues?

Rebekah Palmer then submitted an article to Patientworthy titled “Why I Don’t Feel Sorry For Children Living With Rare Disease” that was published online on November 12, 2019:

Why I Don’t Feel Sorry For Children Living With Rare Diseases

*Note: The author does hold immense compassion for children and teens and their families living with rare disease. Compassion is empathetic in sorrow, rather than wishing there is no sorrow, as feeling sorry denotes.

In a sentence: I was a child living with rare disease. I was a child when I lived with cancer.

And I didn’t feel sorry for myself when I was a child.

In fact, it only confused me and caused feelings of awkwardness and discomfort when adults made comments like “I wish I could take away your medicine for you” or “I wish you didn’t have to live like this”. Or overhearing “be thankful for your life [insert name here] because you could have what Rebekah has”.

Did they really think they could live their lives while taking the medicine treatment I took? Were they suggesting I’d be better off dead because if I didn’t live “like this” I wouldn’t be around to feel sorry about, now would I? 

I am now a thirty-something adult living with the same rare disease and living post cancer. I still don’t feel sorry when I see kids with my rare disease or kids undergoing treatment get paraded out in front of those who have money to fund cures and treatments, or those kids whose faces grace the literature for their disease and medication. 

What I do feel sorry for is that magical change that happens once the child with the rare disease becomes the adult with the rare disease.

We listen to the parents of children and teens living with rare disease as they discuss the stresses on family insurance, medical access, job security, and how their relationships are affected. We listen. And when we open up our mouths….we get interrupted.

AND WE ARE YOU: PARENT OF A CHILD OR TEEN WITH A RARE DISEASE. WE ARE YOUR AGE OR OLDER. SOME OF US EVEN HAVE OUR OWN MARRIAGES OR PARTNERS AND KIDS.

We shoulder the burdens our parents did before us, LIKE YOU, except we are often alone, unless parents are well while aging and have continued involvement in our lives or we have a consistent relationship with the adults who reared us.

Rarely is a parent or other able-bodied adult going to approach us, THEIR PEERS, and think they are just like us. They think of us as the kid and teen who already went through hell so our reserves of courage and resilience is in large stores to get us through adulthood. 

But maybe those reserves are depleted because of the years being known as the sick kid or inspiring teen have taken their toll. Maybe we are tired. Tired of having to stay inspirational and motivational so that hope can be felt by all who look upon us.

Tired of feeling the pressure to be alive and have a full-time job with medical benefits, be enrolled in a secondary institution, be in a relationship, have children, get to our medical appointments, have a hobby and all while maintaining medical treatment. No one can do this despite their illness; a person does this because of their illness because they are still a human being who has to take place in society. 

As a child or teen, one can make up schoolwork, one can focus on treatments and hospitalizations while adults living in the home are going to work to pay medical bills. From Kindergarten to 12th grade one has a group of friends who also live with dependents, because able-bodied children and teens live that way too. 

As an adult, this all changes. Think of all that gets you in the adult daily grind and add advocating for your own medical needs in addition to your job (or representing yourself with the complications of rare disease to at least have state medical insurance) and maintaining that relationship with your partner and/or kids. We need resources and community and parents and able-bodied peers who encourage us like they already do each other; we don’t need you to treat us like kids with rare disease. 

Some rare diseases have one or two organizations that help families. Because I am part of the Cystinosis community, I know Cystinosis Research Foundation and Cystinosis Research Network both are organizations for families and their children. CRN even commissioned an Adult Leadership Advisory Board made up of adults living with Cystinosis who mentor youth in their community.

To date, there is no organization within the Cystinosis community specifically geared towards adults and their needs living with Cystinosis. 

Realities of adults living with Cystinosis are varied and it is okay when another person living with your diseases faces different issues than yourself. What adults living with rare disease need a separate support group for:

  • Community beyond their family of origin
  • Mental/Emotional support (and not just from professionals)
  • Self-advocacy tips surrounding pharmacies, doctors, and insurances
  • Support systems
  • Sex/Family education
  • Job and Career education

But one will not see the adults living with rare disease representing their rare disease community, unless they are doing it alone. And several individuals have solo projects. Because there is no group representing us. When an adult with a rare disease talks, it is for the benefit of the children and parents, not to join the parents in the conversation and pull the community together to advocate for all. 

Graphic displaying what able-bodied and disabled adults have in common.

Image Description: Four sections displaying a stick figure of a human crawling up a mountain. Three sections have the stick figure exclaiming in success through school, high school, and college. The last section has the stick figure using the expletive “oh shit” as the fourth section is labeled Life and another huge mountain ascends.


Update on the consequences good and bad of gene editing: CRISPR’s First Patient Share Her Story by Sunniva Bean.

Has your insurance company ever deemed your treatment or procedure “medically unnecessary”? Insurance providers use the term prior authorization in order to control your medical decisions. Keep insurance administrators out of healthcare: your medical options should be between you and your doctor. Read more about Insurance companies aren’t doctors from this Washington Post opinion article here.

Circle of (clockwise) blue, black, green, yellow, and red non-gender specific people holding hands. Next-Gen is written in black and Cystinosis is written in green. Next-Gen Cystinosis or Next Generation Cystinosis is a non-profit volunteer organization by adults for adults with Cystinosis. Its mission is to create safe spaces for adults ages 18 and older affected by Cystinosis to engage in honest and open dialogue about the plethora of issues that affect them. Please find us on Facebook: https://www.facebook.com/NextGenCystinosis/

Cystinosis in the World

Circle of (clockwise) blue, black, green, yellow, and red non-gender specific people holding hands. Next-Gen is written in black and Cystinosis is written in green. Next-Gen Cystinosis or Next Generation Cystinosis is a non-profit volunteer organization by adults for adults with Cystinosis. Its mission is to create safe spaces for adults ages 18 and older affected by Cystinosis to engage in honest and open dialogue about the plethora of issues that affect them.

Introducing the formation of Next Generation Cystinosis. The purpose of Next-Gen Cystinosis is

  • to provide adults 18 + affected by cystinosis support in dealing with the issues and concerns that specifically affect them
  • to provide emotional and psychological support and education
  • to provide evidence-based, medically accurate sexual and reproductive health education
  • to provide guidance on where to find information and resources to adults affected by cystinosis.

If you are an adult 18+ affected by Cystinosis please connect with Next Generation Cystinosis on Facebook: Next Generation of Cystinosis.

Read more about Next Generation of Cystinosis on Mika Covington’s blog post October 14, 2019: Next Generation of Cystinosis.

Next Generation of is written in black Cystinosis is written in green. Tag reads Run By & For Adult Patients in grey and green alongside the symbol of blue, black, green, red, and yellow non-gender specific people holding hands.

In recent study results adults living with Cystinosis and their loved ones should know:

A study on Central nervous system complications in adult Cystinosis patients was published August 2019 in the Journal of Inherited Metabolic Disease by Aude Servais, MD, PhD, IMAGINE Institute of Genetic Diseases, Necker Hospital, Paris, France.

Two forms of central neurological complications were observed in the 21 adult Cystinosis patients included in this study: a Cystinosis encephalophathy and stroke-like episodes (Servais, 2).

Thirty-eight percent of the adult patients had at least one central nervous system complication and 88.9% have a radiological abnormality (Servais, 6).

Long-term prognosis of adult cystinosis patients appears to be primarily related to neuromuscular complications (Servais, 6). A strong link between cysteamine treatment and central nervous system complications like paresis, stroke, mental function deterioration, and seizures are indicated in a French cohort and 6% of Gahl et al patients died from central nervous system complications (Servais, 7-8).

Neuromuscular disorders seemed to be delayed if treatment was started before 5 years of age (Servais, 7). Compliance is not an issue of obedience to medical authority. Many patients lack regular access to cysteamine treatment depending on where they live globally and how insurance options are obtained, age of accurate diagnosis, as well as choice between side effects and symptoms.

The study concluded that cortical or central atrophy are observed in more than two thirds of Cystinosis patients, but are not correlated with symptoms (Servais, 8). A major concern for adult patients is access to treatment or what the study referred to as compliance.

Fan of green, pink, and blue hands with a non-gender specific person in the center of the colors darkening and merging (the palms of the hands). RAREDISEASEDAY.ORG in purple.
One hundred and fifteen days until Rare disease day 2020 as of November 6, 2019.

LSD: Lysosomal Storage Disease

Goldie the Gopher standing behind Rebekah Palmer and her mother at the 2016 WORLDFair at the University of Minnesota Medical Center Fairview October 1, 2016. Goldie is in maroon and gold. Rebekah has medium length blonde hair and blue eyes with glasses. Her mother has a collared shirt with a hoodie on, and has short, graying brown hair with glasses atop her head.

On Saturday, October 19, 2019, my mother and I again attended the WORLDFair 2019 Lysosomal Diseases Meeting at the University of Minnesota Fairview Medical Center in the McNamara Alumni Center.

The acronym LSD did bring Lucy in the Sky with Diamonds in our heads but alas, LSD is a group of diseases within the rare disease category Lysosomal Storage Disease that are specific to the lysosome of the cell. Please see my previous blog post complete with visual representation about Cystinosis’s place in LSD’s Cystinosis is a Lysosomal Disease.

There are 50+ diseases in this group with very similar symptoms so a patient’s biomarkers are important when geneticists diagnose this type of rare disease. The National Organization of Rare Diseases provides a report on these diseases of which Cystinosis is part of but is also dissimilar to many in this category because Cystinosis patients are not missing an enzyme but experience the receptors of the lysosome being unresponsive.

Because gene therapy is being widely discussed in the rare community as a whole and phase I/II of clinical trials have started specifically with the Cystinosis community, there were many speakers whose topics reflected the trend in gene editing in medicine today.

Kari Hirman, Manager of Pharmacy Benefits with PreferredOne noted that when the trials for any gene therapy are over and it becomes available to the public, it will not be cheap. Currently in the United States of America, insurance determines a person’s treatment and medical care, not necessarily one’s physician. If an insurance company finds it cheaper to support treatment for rare disease rather than the gene editing, the insurance will cover the treatment versus the “cure”.

Jason Bertram of Northwestern Mutual recommended parents who have the means should set up a Supplemental Needs Trust or an ABLE account for their child living with any chronic and rare disease. These accounts would not affect that child when they become an adult and their insurance is Medicaid or Medicare and SSI or SSDI. (Remember if an adult is on Medicaid and SSI they cannot have any savings over $2,000). Have a financial professional, government benefits specialist, and an attorney on your team when planning for the future when your child living with rare disease becomes an adult living with rare disease.

Erica Barnes founder of Chloe’s Rare Disease Foundation and creator of the Rare Disease Advisory Counsel of MN spoke to the historic lack of the collective consciousness in the United States about rare diseases. She has hopes that the RDAC of MN will aid in the commonalities those living rare experience: misdiagnosis of symptoms, travel expenses, and limited options in medical and social places.

I mentioned a patient’s biomarkers are important in diagnosing a rare disease earlier in this article. Ravi Pathak, Ph.D. and MBA of Takeda Pharmaceutical Company Limited had a great list on what biomarkers are:

  • Susceptibility/risk
  • Diagnostic
  • Monitoring
  • Prognostic
  • Predictive
  • Pharmacodynamic
  • Safety

Biomarkers explain why treatment is not one size fits all and neither will gene editing. A report on the genetic factors of any individuals biomarkers can be found through the National Institute of Health: Genetic Tests and Genomic Biomarkers.

A forest is the background. The foreground is a stanza from one of Rebekah Palmer’s poems in her recent release Map of My Heart which reads: When my head aches and stomach hurts there’s no better place to be than Peter Pan’s Neverland Alice’s Wonderland or Robin Hood’s Sherwood Forest.