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Ben Logan girl, family share story of living with a rare disease on Capitol Hill

josie sexstone

Josie Sexstone, 10, and her mother, Jenni, stand next to all of the medication and dosages that Josie takes in a 24-hour period to treat her cystinosis, including Cystagon capsules, Levothyroxine, potassium citrate, Phospha 250, Levocarnitine and Zantac. Some of the medications are taken four times a day and require nighttime doses at 11 p.m. and 5 a.m. (EXAMINER PHOTO | MANDY LOEHR)


Benjamin Logan Elementary student Josie Sexstone spent her spring break last week just enjoying some of the perks of being a 10-year-old. She stayed up late during sleepovers with her cousin and sister and had a memorable outing to the trampoline park Sky Zone, where she jumped around until she was “red in the face,” she says.

Her family is most thankful for these somewhat ordinary and also lighthearted days for their fourth-grade, sweet-spirited daughter, who lives with a rare metabolic disease called cystinosis, which affects approximately 500 people in the U.S. and about 2,000 people in the world.v Every day, it takes an extraordinary effort from both Josie and her parents to take and administer a number of medications around the clock, with doses that could nearly fill an entire table, to treat this condition.

In addition, she also uses special prescription eye drops called Cystaran multiple times during the day to dissolve corneal cystine crystals in her eyes and relieve photophobia, pain or discomfort in the eyes due to light exposure.

While some of her medications can really taste foul, even after being mixed with juice, and also have to be taken at overnight hours – 11 p.m. and 5 a.m. – to meet the four required doses in 24 hours, Josie takes them in stride and is not one to complain. The mature-beyond her years pre-teen knows how vital these medicines are to keeping her healthy.

“It’s just something I have to do,” she said nonchalantly last week at her Zanesfield area home that she shares with her parents, Jim and Jenni, and 14-year-old sister, Jordan.

“I’m used to it; it’s part of our routine. It might not be fun, but if I just take it quickly, then it’s done.”

Capitol Hill opportunity

Josie was diagnosed at age 14 months with cystinosis, which causes an amino acid, cystine, to accumulate in various organs of the body. Cystine crystals accumulate in the kidneys, eyes, liver, muscles, pancreas, brain and white blood cells, according to the Cystinosis Research Network’s website, www.cynstinosis.org. Without specific treatment, including the many medications that Josie takes, children with cystinosis develop end-stage kidney failure at approximately age 9, the CRN reports.

Over the years, the progressive condition also can cause complications in other organs of the body, including muscle wasting, difficulty swallowing, diabetes and hypothyroidism.

To share some of Josie’s unique story and help advocate for others with rare conditions around the country, the 10-year -old and her family were invited to Washington, D.C., for Rare Disease Week at the end of February and first part of March. They were extended the invitation as result of their involvement with the Cystinosis Research Network, including Mrs. Sexstone’s work as a board member for the organization.

Throughout their time on Capitol Hill, the family met with representatives from the offices of Senator Sherrod Brown, D-Ohio, Senator Rob Portman, R-Ohio, and Representative Steve Stivers, R-Ohio. They also spoke with Representative Jim Jordan, R-Ohio, “who went out of his way to meet with us,” said Mr. Sexstone.

Josie’s mother related how they want to use their experiences to help others with various rare diseases to also have access to treatment and specialty medications. One of the main treatment drugs that Josie takes, Cystagon, has been approved by the Food and Drug Administration since 1994 for the standard treatment of cystinosis. It is a cystine depleting agent, meaning that it lowers cystine levels within the cells. It has proven effective in delaying or preventing renal failure, and also improves growth of children with cystinosis, according to the CRN’s website. “While this medicine doesn’t taste good and is unpleasant to take, Josie know how fortunate she is to be able to have it as it keeps her alive,” Mrs. Sexstone said. “We’ve come to realize how fortunate we are that her condition is one that has a treatment, as only 5 percent of rare diseases have a treatment available. Josie wants everyone with a rare disease to have the same access to the medication she does.”

Along those lines, the Zanesfield family said while in D.C., they were advocating for the Orphan Product Extensions Now Accelerating Cures and Treatments Act of 2017, introduced by Senator Orrin Hatch, R-Utah, which has been endorsed by more than 200 patient organizations, including the CRN, according to Rare Disease Report’s website, www.raredr.com. The OPEN ACT would provide incentives to pharmaceutical companies to repurpose already approved drugs for the treatment of rare diseases. The main incentive would be an additional six months of market exclusivity to drugs that are repurposed and approved by the U.S. Food and Drug Administration to treat rare diseases.

This law would apply to currently approved drugs that are still under patent. The 6-month extension would be in addition to other types of exclusivity, such as pediatric or qualified infectious disease product exclusivity, according to Rare Disease Report.

Early years and a quick diagnosis

Long before they were serving as health advocates on Capitol Hill, the Sexstones related that the first months of their youngest daughter’s life went smoothly and without any major concerns. However, during check-ups with her pediatrician between ages six to nine months, they noticed that she hadn’t grown any taller, and at her one-year checkup, the parents and their doctor were alarmed that Josie had lost weight. “She had been throwing up some, and our doctor thought at first that she had a virus,” Mrs. Sexstone said. “But Jenni didn’t take ‘no’ for an answer,” her husband said. “We just had the feeling that something wasn’t right.” Their pediatrician ordered blood work and a urine sample for their 12-month-old girl. In the meantime, the family went on a vacation to Kelley’s Island and that’s when they received some urgent news. “We got a call while on our trip that Josie likely has some kind of kidney disorder,” Mr. Sexstone said. “They wanted us to see a doctor at Cincinnati Children’s Hospital right away.”

The former Cincinnati area residents said they saw the nephrologist shortly thereafter, who also observed that Josie had rickets, as she was bow-legged and her bones were very soft. Although he didn’t mention it to the family right away, the experienced doctor suspected that Josie had cystinosis, and sent her blood samples off to San Diego to test for that condition. In about two to three weeks’ time, the family would learn that their daughter had this very rare disease. “The news at the time, of course, was devastating to us,” Mrs. Sexstone said. “While we very much grieved hearing about this condition, we also were grateful to know what was causing these issues for our daughter. “Also, it typically can take seven years to receive a diagnosis for a rare disease. It’s remarkable that we were able to connect with the nephrologist who was familiar with cystinosis and just had a feeling about Josie, so we got this figured out in a matter of weeks.”

Our normal

For the family of four, life these days is filled with some of the usual hustle and bustle of having a 10-year-old daughter and 14-year-old daughter, along with the medication demands and other requirements to keep Josie healthy with cystinosis. Several times throughout the year, she has appointments with specialists, including nephrology, orthopedics, ophthalmology and endocrinology. The preteen also has blood work performed four to six times a year to check on her levels. During her school day at BLES, her teachers also know that Josie needs open access to water at all times. In gym class and recess, she is encouraged to participate in any and all activities, but just has to make sure she doesn’t get dehydrated and she takes extra precautions when playing out in the sun. “It’s our normal; we all have to adjust to make it work,” said Mr. Sexstone, who serves as the executive director of the Hilliker Y and YMCA Camp Willson. “We couldn’t do it without our family, friends and Josie’s school; they’ve all been so supportive,” said Mrs. Sexstone, who serves as a finance manager for a Cincinnati-based publications company and works remotely from her home. “The school and her teachers have been incredible. She has to take her medicine throughout the day, and they are so good about making sure she has water and anything else when she needs it.”

Older sister Jordan also provides a close-knit support for her young sibling, watching the clock and noting when it’s time for Josie’s medications, and also helping her sister to grab a snack that she needs before taking different prescriptions. “Jordan takes very good care of her little sister; their relationship is a special one,” their father said.

Another important group in the Sexstones’ lives is the Cystinosis Research Network, where the family has found overwhelming support from others living with the same condition, along with medical experts related to cystinosis. They typically attend conferences with the organization every other year in locations around the country. Josie named a number of friends she has made through the organization, other children with whom she shares a close bond and who deal with the same challenges of this genetic condition. “This is the place where I feel like I belong,” she said of the conferences. “My friends there, they know what I go through. One of my friends, Casey, even taught me how to do the eye drops.”

The BLES student’s current good health and activity levels, including one of her favorite activities, playing basketball, are certainly not taken for granted by her and her family. Even with the specialized prescription medication treatment, individuals with cystinosis typically need a kidney transplant sometime in their teen years, but that age can vary at times.

Other interventions that the 10-year-old might eventually need include knee surgery and a procedure on the arches in her feet, her parents said. But with her loving family, CRN friends, family and medical experts looking out for her, Josie will continue to pursue those activities that bring her joy and will share her sunny disposition with those she meets. “I’m just enjoying being me,” she said at her home last week.

Georgetown Family Tightens Reins on Rare Disease with Holiday Fundraiser

FOR IMMEDIATE RELEASE

LAKE FOREST, IL.—November 15, 2017— Receiving a rare disease diagnosis can be debilitating. With a 10-month-old baby, the Moore Family found themselves in that exact situation. Young Chandler had a disease called Cystinosis. It causes cystine crystals to accumulate in the kidneys, eyes, liver, muscles, pancreas, brain, and white blood cells. Without specific treatment, children with Cystinosis develop end stage kidney failure at approximately age nine.

chandler 1

Cystinosis advocates Annie, Chandler, and Clinton Moore with Delaware Senator Thomas Carper during Rare Disease Week 2016. See video footage: http://bit.ly/2mo62iz

After learning about Cystinosis and developing a daily management routine requiring mounds of medication, the Georgetown family set out to raise awareness and research funds. Last year, Clinton, Annie and Chandler visited Delaware Senator Carper on Capitol Hill. In October, Clinton was elected President of the Cystinosis Research Network (CRN) supporting the 2,000 individuals and families living with Cystinosis.

At the heart of their efforts is Chandler’s Chance Christmas Palooza. It started five years ago with Chandler selling hot chocolate and has exploded into a night of magic. Hay rides, face painting, BB gun shooting gallery, Mr. and Mrs. Claus, photo booth, fire truck rides, live music from the Dirt Road Outlawz and more can be found along with thousands of holiday decorations along the property. Clinton said, "It took me eight years to get started. I wasted a lot of valuable time. I really didn’t think that I could make a difference, just one person can’t possibly make a difference but I was wrong because now we are reaching 500 attendees so that’s a lot of awareness raised finally because I got motivated to do something."

chandler 2

Clinton Moore, newly appointed CRN President, shaves head in support of Cystinosis patients also battling cancer.

The family friendly event is free of charge with donations benefitting the CRN. The Moore Family is hoping to top their record, setting a goal of 600 attendees. For more information, visit https://cystinosis.org/chandlerschance

Event Details
Chandler’s Chance 5th Annual Christmas Palooza for Cystinosis
Saturday, December 2nd 5:30pm- 9:00pm
24062 Peterkins Road, Georgetown, DE 19947
Cost: $0

Media contact:
Follow up interviews and photos available through Clinton Moore at This email address is being protected from spambots. You need JavaScript enabled to view it.. You can find the CRN on Facebook at www.facebook.com/CystinosisResearch, Twitter @CystinosisCRN, Instagram @CystinosisResearchNetwork, and www.cystinosis.org.

Conquering Cystinosis

Click here to view the article.

Jack Greeley is my hero. And my husband Dave’s. And my daughter Alex’s. Really, it’s hard to get to know Jack and not understand why.

As many in Lincolnshire know, my son Jack was diagnosed with Cystinosis in the spring of 2001, only a few months after our family moved to this wonderful community. My daughter Alex was 4 then (now a sophomore at the Savannah College of Art and Design) and Jack (now 16 and a Junior at Stevenson) was 14 months old. Our lives would never be the same, of course in so many frightening, gut wrenching ways, but surprisingly in so many more extraordinarily positive and life affirming ones.

Artist With Rare Disease Illustrates Importance of Life-Saving Medicines

Super Heroes Save Lives One Comic Book At A Time

LAKE FOREST, Ilinois — Oct. 24, 2016 — The Cystinosis Research Network (CRN), a Chicagoland based non-profit organization, has teamed up with an artist to create a simple explanation for treating a complicated, rare disease. In a new series of comic books, Kevin McCalla, a young artist living with Cystinosis, illustrates how his rare disease is managed through daily treatment.

comic book 1

Kevin McCalla is an author, illustrator, and young man living with a rare disease called Cystinosis.

One in 10 Americans have a rare disease—nearly 30 million people—and two-thirds of these patients are children. Thus, it was important to create an educational story promoting medication compliance across generations. “I hope to utilize the unique strengths of comics to engage the Cystinosis community – patients of all ages, doctors, caregivers, social workers, and anyone who is interested.” –Kevin McCalla

Currently there is no cure for Cystinosis. Without cysteamine treatment, children with Cystinosis develop end stage kidney failure at approximately age nine.

The cysteamine treatment that keeps Cystinosis in check is often accompanied by side effects including an unpleasant taste, nausea, vomiting, and a strong, sulfur-like odor emitted from the skin. Part one in the series encourages conversations about Cystinosis as a noncontagious disease and reminds others to treat people as they would want to be treated.

For a free copy of the first installment, “Super Cysteamine Team” and to learn more about Kevin, visit https://cystinosis.org/news/announcements/225-cystinosis-comic-bookseries. You can also donate to the CRN at https://cystinosis.org/how-to-help/donate. The CRN is a patient advocacy organization comprised of family, friends, and medical researchers dedicated to finding a cure, developing treatments, and enhancing the quality of life for those affected by Cystinosis. According to the National Institutes of Health, a disease is rare if it affects less than 200,000 people. Cystinosis impacts approximately 2,000 people worldwide.

Media contact:
Follow up interviews and photos available through Katie Larimore at This email address is being protected from spambots. You need JavaScript enabled to view it. or 803-873-2139.
You can find the CRN on Facebook at www.facebook.com/CystinosisResearch, Twitter @CystinosisCRN, Instagram @CystinosisResearchNetwork, and www.cystinosis.org.

Advocacy Runs In The Genes

Written by Domenica Farishian, for antonnews.com on Wednesday, February 19, 2014

A Hicksville mother and daughter are an unstoppable team in their mission to raise awareness and education about rare diseases.

“The rare disease communities are a small voice, but when we come together we can really make a difference,” explains Marybeth Krummenacker, who is getting her message out to a panel of doctors at two events on “Rare Disease Day” on Feb. 28.

Marybeth Krummenacker with daughter LauraIt’s a quest that hits close to home for both Marybeth and her 28-year-old daughter Laura. Just weeks after her third birthday in 1989, Laura was diagnosed with cystinosis, an extremely rare inherited disease that causes cystine, an amino acid, to break down in the body depositing crystals in the major organs. If left untreated it can slowly destroy the kidneys, liver, eyes and other vital organs.

Laura was born “perfectly healthy” according to her mother. But, as is often the case with children with cystinosis, began exhibiting symptoms around age two, including lack of growth and excessive dehydration. At one point she was rushed to the hospital with severe dehydration. “She almost died in my arms. Her potassium levels were so low, it’s a miracle she survived,” Marybeth fearfully recalls.A series of tests eventually led to a diagnosis of cystinosis, which only has 500 known cases in the U.S., and 2,000 worldwide. Getting a diagnosis of a rare disease can be as rare as the disease itself. Marybeth says it was a matter of good timing and fate that helped Laura get that crucial diagnosis.

First the opthamologist examining Laura noticed a build-up of crystals in her eyes. “The doctor needed to check his textbook to see what was causing it,” states Marybeth. A kidney specialist had also coincidentally attended a conference on cystinosis shortly before examining Laura.

Of course a diagnosis is only the first step in treating a disease. Medications are often required. At the time there were no federally approved treatments for cystinosis. But that wasn’t about to stop Marybeth. The kidney specialist told her about a drug trial at the National Institute of Health in Maryland and Laura was accepted into the study.

For years Laura endured rounds of blood work, sonograms and x-rays while taking a host of medications that “tasted horrible,” but her mother says “she was always a trooper.” A trooper herself, Marybeth continually educated herself on her daughter’s rare disease, sharing whatever information she learned, especially with doctors. “If I didn’t speak up she wouldn’t have gotten the care she received,” says Marybeth. The study eventually led to the FDA approval of the drug Cystagon and the eye drops Cystaran.

Always the advocate for her daughter Marybeth was there every step of the way, especially when in 1999, a decade after her diagnosis, 13-year-old Laura needed a kidney transplant. Fortunately for Laura they didn’t need to go far in search of a donor. “My father donated my kidney to me,” Laura proclaims.

In the ongoing crusade to fight for her daughter’s health and medical care, Marybeth became the voice of many when she co-founded the Cystinosis Research Network (CRN) in the mid ‘90s. Her earliest fundraising efforts included garage sales and volleyball tournaments, and evolved into the foundation’s biennial dinner dance.

Marybeth is now taking her fight a step further as board member of the National Organization for Rare Diseases, aiding the forgotten thousands of so-called “orphan diseases.” Money is earmarked for both medical studies and for foundation members to attend medical conferences so Marybeth and others like her can educate doctors around the country about rare diseases.

Laura, who remains on up to eight medications daily including eye drops every hour, says the disease hasn’t prevented her from anything. She holds down two jobs, drives and lives a full and productive life. “You have to treat the disease like it’s a part of your life, not make it your life,” says Laura.

Just like her mother, Laura is turning to advocacy. While Laura humbly states she is simply a “spokesperson” for her mother, Marybeth quickly points out her daughter’s role in the upcoming CRN dinner dance. “Laura is taking a very active role in organizing the event. She is really stepping up to the plate,” Marybeth proudly says.

Marybeth is also humble about her advocacy. “I’m just Laura’s mother. Life handed me this card and I have to play it.”

The Cystinosis Research Network dinner dance is being held at the Milleridge Inn on March 8. For more information contact Marybeth Krummenacker at This email address is being protected from spambots. You need JavaScript enabled to view it..

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