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.
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,
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.
“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.
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?
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
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.
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.
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.
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:
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.
The cure trials have begun. Phase 1/2 that is. The first of a needed six volunteers is currently undergoing gene editing therapy. Please see the update from the Cystinosis Research Foundation The First Cystinosis Patient Was Transplanted.
The requirements for qualifying to be one of the six volunteers is stringent and time consuming as noted in my post from January 22, 2019:
“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” (blog post titled Gene Therapy for Cystinosis).
What does this hope for a cure mean for me, a person in my 30s, living with Cystinosis? Well, it’s a cure for Cystinosis, not a repair for all the damage Cystinosis has already done on my body. I would still have my transplanted kidney, diabetes, migraines, remission from cancer, and fibromyalgia. At this point (and this may change), but for now the cure is a risk in my eyes.
I still have appreciation for those adults young enough and willing enough and privileged enough to volunteer for this cure that will affect the future generations born with Cystinosis.
As someone living with a rare disease that demands a lot of hours in the day that are controlled by the clock with medication that must be a certain number of hours apart, I have decided to do work as a volunteer.
It gets me out of the four walls of my house or clinic appointments and it gets me connected to my community. Because my professional skill is in writing and editing, my paid work is limited in books or articles sold as a freelance worker. I can be quite the hermit if I let myself.
I love that my community has a local history museum, one of the world’s top 15 historic theaters, and a free clinic for those without health insurance. These are places I have chosen to occupy my time.
This is not the only choice for adults living with rare disease who may get their health insurance from their job. I happen to get my health insurance through state health care due to underlying symptoms and side effects of treatment I take and just how my specific conditions affect my body.
I want to give a wider perspective for those adults with rare or chronic conditions who do enter the 9 to 5 work force.
I met a wonderful young woman over the phone whose name is Jennifer. She lives with primary immunodeficiency and she has traveled with her rare disease and works in the work force. She has a BS in Foreign Language Literature, an MS in Linguistics, and is working on her PhD in History! She writes her own blog on traveling, vintage clothing, and living rare.
I particularly found her blog post on working with chronic illness valuable because she is honest about issues that can affect an adult with rare illness on the job. Check her out at Peanut Harvester, and check this particular article on working with chronic illness out!