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.

Fixing My Chromosomes

Photo of two lit candles dripping wax. I have often used this photo in honor and remembrance for those living with and those who have lived life with rare disease.

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).

Orange wildflowers among the fall, sun-burnt grass located in rural Wisconsin.

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.

Read the full press release from AVROBIO, a clinic stage company focused on developing potentially curative ex vivo lentiviral-based gene therapies to treat rare diseases in a single dose, First Patient Dosed in Phase 1/2 Trial of Gene Therapy for Cystinosis.

Picture of two young female children under a blanket fort with flashlights. They appear to be sharing stories. The quote is a stanza from a poem by Rebekah Palmer from her newly released poetry book title Map of My Heart: “My chromosome complete friends express the wish to be like me…”

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 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!

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 my 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.