Traveling Abroad with Rare Disease

How do YOU do it?

My rare disease informs how I see the world and how I live in it. I have not contemplated this from another angle until I visited Denmark and Sweden.

I will fill my blog readers in on my travel journey this summer!

I would love to hear from others living rare how they have traveled while on treatment.

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The “D” Word

Gray and white photograph of an elephant sitting on a therapist’s couch with the therapist seated next to it. Caption reads: “I’m right there in the room, and no one even acknowledges me.”

They are disabled. They live with a disability. A describer of a person or used in place of the person themselves, disabled is a word that evokes charged reactions even among people who have been disabled at one time and the experience resolved, or who are disabled by definition because there is no resolution to their life experiences.

We live in an ablest society that values able bodies over disabled bodies. Ability in all things physical, emotional, and mental is something NO ONE has achieved their whole life long. So why is society insistent that disability is “other” and “less than”?

Even in a rare disease or chronic disease community (to use the term disabled or to describe someone or indicate a person as disabled) disabled is the equivalent of a slur rather than just simply a state of being.

Here is what the word disabled means according to Merriam-Webster’s dictionary: A physical, mental, cognitive, or developmental condition that impairs, interferes with, or limits a person’s ability to engage in certain tasks or actions or participate in typical daily activities and interactions.

According to Wikipedia: Disability affects a person’s life activities and may be present from birth or occur during a person’s lifetime. It is an umbrella term covering impairments, activity limitations, and participation restrictions.

It’s not a curse word. It’s not a negative word. It is how ALL people throughout their life, or phases of their lives (particularly beginning and end of life), will have experience living.

And yet, people who experience disability are not seen as whole persons and are not seen as normal people like their able-bodied peers are.

So, yes. We need to highlight stories and experiences among those living life disabled. Especially those who are living any type of disabled experience between ages 18 and 35.

Arrange your story in narrative style, through images, or on video and send them to Rebekah Palmer at reba.palmer.87@gmail.com for guest blogging on Cystinosis Society.

If you are a reader of this blog and you are located in Europe, join Rare 2030 Project! Help create policy for the next 10 years in rare disease in Europe. A webinar takes place on May 2, 2019: Eurordis-The Voice of Rare Disease Patients in Europe.

Register for National Organization of Rare Disease’s Event on June 22, 2019: Living Stronger NORD Patient and Family Forum. The ticket to this event includes an award ceremony attendance at the NASA Johnson Space Center. Information about sessions with the medical and rare community as well as children’s events is available here.

Woman in red dress and red high heels lying on the floor with blue, green, red, and yellow juggling balls all around here.

Representation of living life with a rare illness/chronic illness/disability and managing a normal adult existence.

A Call for Adults to Share Their Stories

Original Cystinosis Foundation logo. A girl and a boy holding hands on top of the world in blue. Beyond Borders is also written in blue around the image. Cystinosis Foundation is written in blue at the bottom. This organization was started by Jean Hobbs-Hotz in 1983.

Not too long ago, and even still in the present depending on environment, access to medical care, and nature of the illness, a child being diagnosed with a rare disease only lived into childhood or teenage years.

Parents should be thanked for their dedication in advocating the political and medical world for treatment and medical options for the survival of their children into adulthood today.

Largely, most rare disease organizations and foundations are led by parents whose children, teenagers, and adults live with the rare disease.

I just finished a book titled Diagnosis Rare Disease by Denise Crompton. She compiled a great resource with perspectives from 13 other mothers whose children live with lysosomal disease.

The parental perspective on their children, and some with adult children, living with rare disease is driven by survival and faith with love. Resources for quality of life, education, jobs, and social support comes from physicians and parents whose life revolves around their patient(s) or child(ren) living with rare disease.

I have questions:

Is having parental and medical voice paramount why there is a lack of stories being shared about adults advocating for their own support, education, jobs as they navigate life lived in the midst of hospital stays, clinical visits, and the day-to-day management of treatment?

And/or is their still a small percentage of children growing to adulthood that adult advocacy is often absent in the conversations surrounding how life is lived with rare disease?

And/or is it because adults living with rare disease spend so much of their energy and time on being normal adults (education, jobs, friends, and family) that becoming their own advocate and attending events where there voice could be heard just is too costly and time-consuming to consider when parents and medical providers generally have the finances, time, and purpose to do so?

Cystinosis Research Network logo. Images of non-specific people in green which form the shape of a letter C. Cystinosis is written in blue and Research Network is written in green. This organization was started in 1996 by Colleen and Jack Hammond.

Adults living with rare disease lead such diverse lives as their peers living without rare disease do:

  • adults sometimes still have their parents extremely involved due to how their illness and/or treatment of their illness affects their ability to go to school, to work, to manage their own home
  • adults sometimes manage their own home with the help of a spouse/partner and children or no children (which may or may not include parental help)
  • adults sometimes live with other single adults (with or without a caretaker) to help lead their lives

Any way an adult living with rare disease chooses to live their life is valid. Some have living parents who are involved, some have living parents not involved as much or not at all, and some have aging and disabled parents or parents who have died.

Each adult will have similarities due to same health diagnosis, but each life will expose a different part of living rare dependent on the race, nationality, ethnicity, gender, sexuality, class, religion, and ability the person reveals in their experience of rare disease.

I would like to work on compiling life with rare disease from the adults who live it. Any adult who wishes to share any aspect of their story and identity is encouraged to submit to this blog by reaching out to Rebekah Palmer at reba.palmer.87@gmail.com.

Not a writer? Consider submitting a video instead or consider sharing your story over the phone and reviewing what Rebekah writes down from your phone call.

Cystinosis Research Foundation logo. Hand-drawn yellow star is at the left corner. Cystinosis is written in black/blue. Research Foundation is written in black below the word Cystinosis. At the bottom the words Research/Hope/Cure appear in blue. Cystinosis Research Foundation began in 2003 along with the Natalie’s Wish Day of Hope event organized by Jeff and Nancy Stack.

A parent of two young boys living with Cystinosis compiled notes from the most recent Cystinosis conference: Day of Hope with the Cystinosis Research Foundation. Follow the link here to read Stephen Jenkins summation of the most current Cystinosis information.

Image of a young woman holding up a book that reads: I just want to live a life worth writing down.

Adults living with rare disease need to be heard and validated no matter what resources they use or don’t use; what skills and abilities they have and don’t have. Their lives are not for sale based on the level of inspiration they elicit from audiences. It’s not for others that adults should share their stories, but for their own existence.

Cystinosis is a Lysosomal Disease

A pie chart of lysosomal (storage) disorders from the University of North Carolina–Chapel Hill Program for Neurodevelopmental Function (1980-1996): Gaucher, Hurler, Metachromatic Leukodystrophy, Sandfillippo A, Fabry, Hunter, Krabbe, Pompe, Morqui, Cystinosis, Tay-Sachs, Sanfillipo B, Niemann Pick C, Maroteax-Lamy, Niemann Pick A/B, Mucolipidosis II/III, Gm1 Gangliosidosis, and Sandoff.

Rare diseases that are categorized as lysosomal diseases either show a deficit in an enzyme, or as in the case of Cystinosis, a deficit in the transport protein.

The genetics of the child contain an inborn error of metabolism that leads to inappropriate storage of materials in various cells of the their body.

There are over 70 lysosomal diseases and each one affects different parts of the person’s body (2017 WorldFair Lysosomal Disease Meeting in Minneapolis,MN). There are only 10 approved therapies to treating these lysosomal diseases that I have heard as of 2017.

In the age of enzyme replacement therapy and gene editing gene therapy, there are clinical trials available for some conditions. If one is taking a treatment for their disease, be sure to report positive and negative side effects as this helps scientists create better treatment for those living life with lysosomal disease.

A website is available about lysosomal diseases at Lysosomal Disease Network which includes an updated list of lysosomal diseases and their current treatment therapy, as well as a conference for those whose lives are affected by lysosomal disease available (typically in February of the year). For more information on treatments and coping with lysosomal disease at a conference visit World Symposium.

Genetics 101: Leslie Lysosome and Alec Baldwin tell it like it is.


Aspartylglucosaminuria. Batten Disease. Cystinosis. Fabry Disease. Gaucher Disease I,II, and III. Pompe Disease (Glycogen Storage Disease II). GM2-Gangliodosis Type 1 (Tay Sachs Disease). GM2-Gangliosidosis Type II (Sandhoff Disease). Metachromatic Leukodystrophy. Mucolipidosis Types I, II/III and IV. Mucopolysaccharide Storage Diseases (Hurler Disease and variants, Hunter, Sanfilippo Types A,B,C,D, Morquio Types A and B, Maroteaux-Lamy and Sly diseases). Niemann-Pick Disease Types A/B, C1 and C2. Schindler Disease Types I and II. (Updated Lysosomal Disease name list from National Organization of Rare Disease website-the page includes discussion, causes and symptoms, and resources and organizations to contact.

Yes. Cystinosis is not just about one organ in the body that can be transplanted and all is cured. A peer of mine wrote an article earlier this year about 10 myths associated with Cystinosis:kidney disease as well as the belief a transplant fixes it are two of the myths she discusses.

In an author bio I published at the back of my first book back in 2013, I describe Cystinosis as a kidney disease, but that is far from a comprehensive definition of Cystinosis. I called the disease in my body a kidney disease because the focus of Cystinosis advocacy groups is pre-transplant patients or patients on dialysis and those who are undergoing another kidney transplant.

And that aspect of life with Cytinosis is important: health of one’s kidneys. But it is not the whole experience of living with Cystinosis: a lysosomal disease.

Possible symptoms and disease manifestations of nephropathic cystinosis from
https://www.frontiersin.org/articles/10.3389/fped.2018.00058/full for full report.

The chart lists Cystinosis disease implications on the eyes, endocronolgy/reproductive system, kidney, skin, neurology, gastrointestinal, haematology, and bone and muscle.

D.A.D.

Representative Rob Summerfield along with Rebekah Palmer (left of the Representative) and Kay Hebert (right of the Representative). Rebekah and Kay were advocating in Madison, WI in the capital building on March 20, 2019 for those people who live with disabilities and their particular concerns about Wisconsin Medicaid, transportation, and financial independence.

Representative Summerfield (center) is wearing a gray suit with gray and blue squared tie. Rebekah Palmer (left) is wearing a gray t-shirt, black suit jacket, and red pants with a Northwest Builders snow cap. Kay Hebert (right) is wearing black dress slacks, black shirt, and black jacket with pearls around the edges.

State Senator Kathy Bernier and Representative Rob Summerfield were on the docket two days ago for rare disease advocate Rebekah Palmer. Her friend and fellow disability advocate Shayna Lund, along with her two sons, drove Rebekah to Madison, WI to participate in Disability Advocacy Day or D.A.D.

As I have alluded to in a previous post, equality is not about the invisibility of difference. That would result in sameness and the erasure of access for all persons, not equal opportunity. Discussions about equal access must include conversations about the differences among human beings. People who have different abilities need different assistance and better care so they can engage in equal accessibility as others in the population do for medical as well as community services.

Brought to the politicians in Madison were the following issues:

  • WI Medicaid and the reimbursement barrier resulting in clinics and hospitals closer to people’s homes rejecting WI Medicaid because payment is denied for necessary medical services.
  • Better mental health care when an individual living with rare and/or chronic health problems needs support for their emotional well being.
  • Education of employers in hiring persons living with disabilities and better job accommodation for these working adults.
  • Better payment for those pursuing jobs as personal care workers and job coaches.
  • Transportation for adults living with disabilities to their jobs and community events.
  • ABLE accounts for those adults receiving WI Medicaid and SSI to gain financial independence.

The Survival Coalition of Wisconsin Disability Organizations assists in promoting Disability Advocacy Day.

As I am learning in a class I am taking called Digital Storytelling in a text book by Lambert titled Digital Storytelling, speaking one’s life story to others through the lens of any kind of inability or assistance needed with any of life’s day to day tasks is powerful.

Fostering dialogue about disability and many of the larger cultural issues that are raised by any human being’s unique perception of themselves and their bodies helps other people confront post modern issues.

In the case of living with rare/chronic/disabling diseases, we are perceived to be visibly limited or invisibly limited in myriads of ways (Lambert, pg. 129).

Wholeness isn’t just about a person’s physical body, but encompasses a person’s mind, heart, and soul. Wholeness isn’t just about people who live with different abilities. Wholeness enmeshes with the entirety of a human being: their race, gender, sexuality, nationality, ethnicity, religion, class, and ability.

Do not forget to leave a seat at the table of inclusiveness for those of differing abilities. As was part of our rallying cry on the steps of the capital: NOTHING ABOUT US WITHOUT US!

Flannery O’Connor quote: The basic experience of everyone is the experience of human limitation. This quote is against a backdrop of waves ebbing onto a beach.

As humans age, their abilities change. One doesn’t have to born rare and/or with chronic health conditions or lose ability due to traumatic events to experience loss of what they once had ability to do, speak, and think. Care about all abilities.

Rare Disease;Rare Medication

Quote from Thoreau: The price of anything is the amount of life you exchange for it. Photo is of a burnt orange sunset with a darkened castle silhouetted.

*The following article was previously published on Patientworthy March 13, 2019 as Answers About Patient Assistance with Rare Medication.

“A few months ago, Patientworthy editor Kathy Devanny asked me some important questions about the assistance I receive from Patient Access Managers as a person living with the rare disease Cystinosis who also takes orphan drug therapy to treat the disease progression. I did some research, and here are my answers:

1. What is a Patient Access Manager?

Most companies that have developed medications for rare genetic diseases have a patient services team. The team’s primary role is to help connect patients and families with available resources and access to their specialty medications.

A Patient Access Manager is a member of the patient services team. They are field based employees who travel often, meeting with patients (outside of their homes) and meeting with health providers. 

Patient Access Mangers, or PAMs, are experts at navigating the complexities of the healthcare system. They act as advocates for patients and their families.

PAMs also provide reimbursement support services to health care providers that prescribe treatments for rare diseases. A PAM is there to help patients avoid gaps in coverage and avoid interruptions in therapy. 

2. Is there a standard form to have the patient sign to allow the PAM access to private health information? Could a loved one be designated to do this for a patient?

Yes, an enrollment form (which is often the specialty drug prescription) must be signed. The patient does give consent and most legal consent follows HIPAA laws.

A loved one could do this, but the patient (if over 18) must call their insurance company and the pharmacy which distributes the drug to notify them verbally and often in writing of their permission for a parent/loved one to become involved.

3. What are examples of the types of problems PAMs have helped with?

PAMs help with the following:

  • Coverage for specialty medications
  • Health insurance for approved rare disease therapies
  • Navigation of health insurance landscape: open enrollment and when a patient or family loses previous insurance

PAMs also help the patient’s physician with preauthorization approval. PAMs are reimbursement experts and a resource for doctors attempting to get specialty drug therapy access to their patients.

4. How many patients approximately can one PAM handle?

A PAMs bandwidth will vary based on different factors such as the type of medication (oral, injectable, infused) and the specific needs of the particular rare disease patient community that the PAM is supporting. Certain medications and disease states will require early and often support and communication with a PAM; and some will not require as much. The amount of cases a PAM can support will also depend on their experience. It will also depend on the different types of coverage related challenges that come with gaining access to the specific specialty medication that they support.

5. Where do PAMs go to get their training in insurance, co-pays, and patient rights (what are the backgrounds of many PAMs)?

A typical PAM will have experience working with health care professionals as well as problem solving skills. Many PAMs are typically nurses, social workers and case managers by trade and many used to be pharmaceutical sales reps.

6. What was one case considered their greatest success?

Getting specialty drug therapies to the correct city when a patient travels is listed as a great success among PAMs. Many times families (and single adults) experience great emotional and mental stress over the loss of insurance because this results in a break in their child’s therapy routine or their own therapy routine. PAMs have often been the key to getting rare medication financially covered so a patient doesn’t have to go days or months without life-saving medication.”

Rebekah Palmer (who is an adult female living with Cystinosis) portraying Mr. Matthews, a minor businessman character, in the musical production of How to Succeed in Business (Without Really Trying) March 1,2,3 and 8,9,10 with the Menomonie Theater Guild at the Mabel Tainter Center for the Arts in 2019. Rebekah is wearing a blue suit jacket, white shirt and golden tie.

Many impressions and thoughts have been swirling in my mind related to living with a rare disease and the concept of equality in society. I don’t ascribe to a homogeneous society;meaning, I do not feel we need to make differences invisible in the name of equality as every person should be the same. I ascribe to a heterogeneous society; meaning, I feel we need to talk about differences and examine the respect and kindness we give every human being as both different and similar just as any other human being. That’s the kind of equality I desire and would like to see in the United States of America.

Perhaps more on this in another blog post…..as one idea (of many on my heart and mind) is how this relates to “rare disease; rare medication”: the need for better patient access like there seems to be for diseases with more people affected.

In rare news…

  1. I found this video, Gene Therapy Explained Roadmap to a Cure, insightful as a whole on the concept of gene therapy. The video portrays the rare condition Rett Syndrome which is a genetic mutation affecting brain development in girls and how clinical trials in gene therapy are affecting those living with the disease and their caretakers.
  2. This article CRISPR Successfully Treats Duchenne Muscular Dystrophy in Mouse Model addresses Duchenne Muscular Dystrophy: a neuromuscular disease wherein boys are mostly affected than girls. It goes into CRISPR, gene editing technology (gene editing was mentioned in the above gene therapy YouTube video), and the single CRISPR treatment that corrected Duchenne’s for one year.
  3. “To climb out of my depression, I first had to accept my illness as part of my identity….”Finally an article, Why We Need to Start Talking About Mental Health and Rare Disease, about the double stigma of living with a rare disease and facing stigma for having mental health occurrences! ” Stop telling us ‘no,’ and start offering a helping hand instead – because we deserve to have the best chance at a full life, just like anyone else.” From my perspective, I am not the same as an able-bodied adult. I am living in a disabled body. Give me a helping hand like one would an able-bodied adult with a career and family. Do not tell me my difference makes me unable to posses either or both career and family.
Global Genes infographic with the information that rare disease affects 30 million Americans and 350 million worldwide. When rare diseases with small patient populations are all taken into account, the persons living with rare diseases would make the 3rd most populous country in the world. Care about Rare.

Aftermath of Rare Disease Day

In rare news…

  1. National Organization of Rare Diseases released a press release of the Mighty’s collected responses from the rare community at large about misconceptions the general public has about the rare disease community posted here by Laura Mullen.
  2. Laura Kieger reveals the fault in her families genes in an article for Patientworthy titled No Gene for the Human Spirit . Make sure to check out her memoir detailing the humanity behind the illness as well as visit her website.
  3. The Orphan Disease Center is a team of scientists and professionals who are passionate about accelerating research, developing therapies, and bettering the lives of those living with rare disease. They specifically study Amyotrophic Lateral Sclerosis, CDKL5 Deficiency, and Mucopolysaccharidoses. Global Genes will team up with the Orphan Disease Center for their RARE Drug Development Symposium scheduled June 6-7, 2019. *Global Genes has RareCast now under the main header tab Programs-Community Highlights.*
  4. A rare complication that can happen after any solid organ or bone marrow transplant is cancer, whether it be lymphatic or blood in nature. The phrase used for such cancers is PTLD or Post-Transplant Lymphoproliferative Disorder. In 1999, my parents nor I were told this term, only that I had cancer from anti-rejection medications after my kidney transplant. I was able to meet these two warrior parents two weekends ago and want to share their blog post concerning the PTLD that claimed the life of their daughter after her heart transplant: The cancer that claimed Marisa’s life two years ago today has not silenced her voice.
  5. Another young woman who had a double heart and kidney transplant as well as PTLD whom I met two weekends ago shares about the concept that there is Beauty IN disability; not because of it: I’m Celebrating My Disabled Black Girl Magic Because I’m Done Feeling Invisible.
  6. Motivational Speaker Jessica Melore takes on awareness for women and heart disease. Yes, I met her as another survivor of PTLD that same weekend.
  7. I met five other people with either bone marrow or heart transplants that endured PTLD that weekend. Each one affected my life eternally. I hope to continue to share the work they put out on rare disease and PTLD awareness as well as awareness that living with rare disease is as diverse as the people whose lives it affects.
National Organization of Rare Diseases infographic picturing the information that 1 in 10 Americans has a rare disease but that there are over 7,000 different kinds of rare diseases that exist.