Back to the Life

Orange background with brown stripes with a black-outlined white circle in the middle with the following quote inside: “Volunteering is the ultimate exercise in democracy. You vote in elections once a year but when you volunteer, you vote every day about the kind of community you want to live in.”

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 a 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!

Pictured is a wooden box with a painting of a broken heart with tear drops and flowers growing in the cracks. The artwork was done by an adult living with Cystinosis named Rebekah Palmer.

Traveling Rare (Part 2)

A Caucasian wrist donning a blue band with a silver medic alert pendant: the medical symbol of a snake on a stick and the words “medic” “alert” on either side of the snake on a stick.

Whenever I travel within the United States, I either call the airline ahead and let them know that a patron with a disability is using their flight and will need assistance or I just go ahead and board among the group announced first–which is usually active military and persons living with a disability.

There are reasons why I do and do not call ahead, resulting in just winging it upon air flight boarding announcement. I do call ahead if I have already been experiencing migraines and significant pain in my neck, shoulders, and hips prior to my flights. Walking around an airport with luggage only exacerbates my bodies tolerance for living in pain and adequately functioning in public alone.

The down side to this is airport assistance often just takes one in a wheelchair to their seating area and escorts the person on the plane. A good airport assistance person asks if one needs the restroom. I, personally, have not had one ask if I needed food or drink. One of course can just take the initiative and ask for these things en route to flight.

Which leaves me writing to my readers, why I don’t ask for assistance ahead. I need food and drink while at the airport and one cannot have so much liquid and snacks when going through security.

When traveling to Denmark and Sweden, I did not let the airlines know I was a patron traveling with a disability. I was in a large group for one thing and wasn’t sure on the logistics with the traveling agency we used through the university system.

A photo of me (Rebekah) after a week of migraine-like pain and consequential neck, shoulder, and hip pain. I am wearing a horizontal striped shirt (brown and gray) on white. Blue rimmed large glasses. *Try air travel like this! Not the outfit, but the wiped-out body!

The airline announces the typical: those flying active military and wheelchairs may board first. Wait. Wheelchairs? That part wasn’t typical to include all patrons with disabilities. I notified my professor I was going to try to board ahead because I would need assistance with my luggage. I walked up and another woman who was using a cane did as well.

The person boarding patrons seemed puzzled by our appearance. A man beside us even said, “Look. She’s using a cane.” I said, “She needs to board early and I do too. Here is my medical bracelet to denote my condition.” He hesitated and let us pass after a few moments.

The flight journey back was much easier because I had gotten to know my companions in the study abroad program better and I was able to share a bit more of my lifestyle with them. The students were wonderful: “Rebekah–I got your bag!” “Let me get that up there for you.” And my professor was able to let some airport service people know discreetly that I was an organ transplant recipient traveling who needs to be seated once in a while during the long line at customs.

It was quite horrid seeing their area for persons using wheelchairs, these were predominantly elderly persons, but they were all seated in a roped off area. Maybe 30 to 40 persons set aside. Like luggage. I had been one of those one time while traveling in the USA because that’s typically where they take those who denote their disability on airlines to stay. Unless one had a bottle of water or snacks for some reason, you are there until they come get you.

Traveling alone can be a trip in and off itself, but group travel can be ideal if one is comfortable speaking up about their condition to their partners in travel.

A man named Mack pictured with sleeveless shirt and shorts on the beach with rocky, green mountain background. (Ipanema Beach. Rio de Janeiro, Brazil.)

The above picture is a man named Mack who is one of the older persons living with Cystinosis. He offered the following advice after my query on traveling rare part 1:

 “I’ve been fortunate to have been travelling for over 50 years. I’m hoping to contribute a few things to consider while travelling with a medical condition.

Having enough medicine for the trip is the number one concern. As standard procedure, I always take an extra week of medicine on a trip. One of the biggest concerns about travelling abroad that I hear is fear of not having enough medicine on the trip. Fortunately, this situation can be easily avoided in most cases. When you are at the pharmacy getting your medicine, you can get additional medicine to cover your trip with up to a week for emergency. Tell your pharmacy about your trip abroad. The pharmacy will ask your insurance for a vacation override. This can usually be done once or twice a year. My pharmacist told me this was standard procedure for the industry.

Since I’m writing to a cystinosis audience, I will discuss the eyedrops. For a 2 week trip, I carry my first eyedrop bottle on me. I keep 1 to 2 additional bottles in a diabetic travel case, so at least it remains cool. This is the best that can be done in this situation. The additional eyedrops will not be working at peak condition, but they will be working enough to provide comfort for your eyes.

I highly recommend getting travel health insurance. Even if your primary insurance will reimburse you at home, certain medical facilities abroad will not treat you without travel insurance. An example of this is if you go to a private hospital and cannot prove your financial ability to pay. In that case, you would be transferred to the public hospital or clinic.

I’ve been travelling with a CPAP for over 15 years now. For me, this is my biggest inconvenience while travelling abroad. This is because I prefer to travel light with carry-on luggage only whenever possible. In the USA, it’s not an issue because American Airlines does not count the CPAP machine against your carry-on allowance. This is true for all of the USA airlines as far as I know, Travelling in different countries, it’s not always the case. I’ve been trying to deal with this by getting email confirmation of airline policy from the foreign airline. Some foreign airlines reply to emails, others do not. I’ve got ‘Medical Device’ tags on my CPAP carrying case. Worst case scenario, I plan for this contingency knowing that I will check my backpack with non-essential items, if it becomes necessary.”

Enjoy this series of my first look at Copenhagen, Denmark:

The city of Copenhagen, Denmark complete with spires on buildings and man on horse statue with a clear blue sky ahead.
The water cancels of Copenhagen, Denmark.

Traveling Rare (Part 1)

Gray duffle bage with black straps. The letter “P” is in red and encircled with black hearts on the front pocket. Orange neck brace for the airplane ride attached to the straps. Denmark/Sweden here we come!
Two weeks medication treatment for travelling abroad May 2019.

Hello blog readers! It’s been several days and a few weeks since I have written anything of substance about living rare. Mostly this was due to the first time I went overseas in the form of a study abroad trip.

I was happy to know I could pick a trip to another country in a two week increment. I did not particularly want to deal with figuring out how to get my rare and otherwise common medication delivered to me monthly in a country I was not a citizen in.

With a two week trip, my medication schedule was such that I could plan all my doses abroad and have a few days left over back home. Therefore, I could be comfortable with setting up my medication orders after I returned from my trip.

This was helpful for the reason that two of medications are from two out-of-state pharmacies in the United States of America and as far as I know could not be easily obtained in Denmark or Sweden. The rest of my medication I could potentially have gotten in these developed countries although they would have been under another name.

I would be most curious to read stories about persons living in a country different from the USA with rare conditions or stories about persons who live with a rare body who have lived overseas for a period of longer than two weeks.

Let me know folks:

You are beautiful like a rainbow in cursive writing with a rainbow watermark across the words.

Important information for young adults living rare ages 18-35:

As young adults impacted by a rare or chronic condition, we are faced with hardships and challenges. How do we cope with the condition? What about talking with family, friends, and romantic partners about our health condition? What are our future family planning and career options?

After speaking with young adults from over 45 different rare and chronic conditions – representing thousands of other young adults – we decided to create Our Odyssey to bridge this gap and provide year-round support to young adults between the ages of 18 to 35. Our mission is to connect young adults impacted by a rare or chronic condition with social and emotional support in the hope of improving their quality of life. We believe this to be an opportunity for young adults to share their journey with their peers since there is nothing lonelier than feeling alone and uncertain about your future.

We provide in-person meet ups that connect young adults to one another and remind them that they are not alone in their journey. Our plan is to expand our platform to reach thousands more young adults. Through this, we hope to empower young adults to build their own local communities and enrich their lives.

If interested in learning more or if you have any questions please reach out to Seth Rotberg at or Kristina Figueroa (Wolfe) at 

Please read this article offering hope when living young with rare disease that is addressed to persons working in all aspects of the medical world from research to pharmacy: ” For many patients, especially young adults, the time that is lost can exacerbate anxiety and stressfactors that are considered co-morbidities of many rare and chronic diseases.”

Wendy Chung and her colleagues have discovered 44 new rare diseases to date. Listen to her innovative approach for accelerating new drug therapies for these rare diseases in small patient populations through Global Genes RareCast A Gene Hunter Becomes a Drug Hunter Too.

Panoramic view in Stockholm Sweden by the Vaxholm Swedish military base: body of water with a cruise ship docked next to the Swedish military base.

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 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

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 for full report.

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