Connecticut Rare Disease Day February 28

Members of Connecticut’s General Assembly (CGA) will hear from myriad people and organizations, including Sofia Sees Hope, about patient advocacy and access to treatment during a legislative informational session Thursday in Hartford, in celebration of Rare Disease Day 2019.

This year’s theme is Show Your Stripes, with a call to action for people to literally and figuratively “show their stripes” in support of rare diseases, according to the National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 25 million to 30 million Americans living with rare diseases.

The zebra, the official symbol of rare diseases in the United States, is noted for its black and white stripes that are central to its uniqueness. Everyone has his or her owns stripes, characteristics that make individuals distinct. While each of the more than 7,000 rare diseases are unique, many commonalities unite the rare disease community.

This event is held nationally and in more than 85 countries. It serves as an opportunity to hear from the many voices of those dealing with rare diseases and the daily challenges facing Connecticut patients and their families.

The public is invited to attend the event from 8:30 a.m. to 11 a.m. in the 2nd Floor Atrium of the Legislative Office Building, 300 Capitol Ave., Hartford.

Rare Disease Day in Connecticut is hosted by NORD and NORD’s Connecticut Rare Action Network (RAN). For more information, please visit their website and click on the “Register Here” link.

Lesley Bennett, part of NORD’s Rare Action Network and Connecticut’s Volunteer State Ambassador, organized the Hartford event. For more information, please email her at Lesley.bennett@rareaction.org.

Rare Disease Day – held annually on the last day of February – is a time to bring together doctors, researchers, advocates, patients, caregivers, industry representatives, and legislators in Connecticut and around the world to focus on the critical role patients play in understanding rare diseases and in developing innovative treatments and cures.

About 300,000 people in Connecticut have a rare disease. A disease or disorder is defined as rare in the United States when it affects fewer than 200,000 Americans at any given time, according to NORD.

Of the more than 7,000 rare diseases, NORD also says that 80 percent of rare diseases have genetic origins, while others are from infections (bacterial or viral), allergies, and environmental causes, or are degenerative and proliferative. Fifty-percent of rare diseases affect children.

Legislators and attendees will hear from Hope in Focus (formally Sofia Sees Hope) about patient access to treatment during the “Patient Issues” portion of the program.

The moderator for Connecticut’s event is Dominic Cotton, a Milford resident with 25 years of experience in behavioral healthcare management. He is a parent and an active advocate for rare diseases and brain injuries.

Rose Avellino, NORD’s Grassroots Advocacy Manager, will open the event. Avellino helps with the nationwide Rare Action Network and state policy issues.

Here is Thursday’s agenda, followed by a list of scheduled speakers:

8:30 a.m.: Opening Remarks

8:40 a.m.: Connecticut General Assembly Welcome

9 a.m.: Rare Disease Programs and Research

9:40 a.m.: Rare Disease Business in Connecticut

9:50 a.m.: Impact of Rare Diseases on Connecticut Families

10:15 a.m.: Legislative Issues

10:25 a.m.: Patient Issues

10:40 a.m.: Closing Remarks

Speakers (in the order in which they will be speaking):

Representative Joe Aresimowicz, CGA House Speaker, recently introduced legislation concerning continuing medical education in screening for rare cancers. He is one of the Rare Action Network’s Champions.

Greta Stifle, Neuroendocrine tumor (NETs) patient and advocate, is the founder and president of STIFLE Cancer Foundation, Inc. She is a Neuroendocrine Tumor & Mast cell patient actively advocating for patients with rare cancers through campaigns, such as the Zebra Project and the Neuroendocrine Tumor Awareness Campaign.

Senator Len Fasano, CGA Senate Minority Leader, recently introduced two bills to assist patients and families with developmental disabilities and helped make Connecticut become one of the first states to add Adrenoleukodystrophy (ALD) to the Newborn Screening Panel. He is also a Rare Action Network Champion.

Hunter Pageau, a patient and advocate, is a Rare Action Network Youth Champion. He was born with an ultra-rare motor neuron disease – Spinal Muscular Atrophy with Respiratory Distress (SMARD). Despite his own medical challenges, Hunter actively raises his voice to advocate for others who have rare, life-limiting illnesses.

Ching Lau, MD, Ph.D., is the Division Head of Connecticut Children’s Medical Center’s (CCMC) Center for Cancer & Blood Disorders and professor of Genomic Medicine at the Jackson Laboratory (JAX Labs). He specializes in finding new treatments for children with rare blood, bone, and brain cancers.

Charles Whitaker, MD, is a neurologist who sees patients at the Hospital for Special Care (HSC) outpatient clinic. He specializes in researching and treating adult neuromuscular disorders

Cristian Ionita, MD, is Co-Director of the Yale/MDA Pediatric Neuromuscular Clinic and Assistant Professor of Pediatrics (Neurology). His research focuses on pediatric neuromuscular disorders.

Saquib Lakhani, MD, is Clinical Director of Yale Medicine’s Pediatric Genomics Discovery Program (PGDP). He specializes in caring for newborns and infants with undiagnosed birth disorders.

Paul Pescatello is President and CEO of the New England Biotech Association and chairs the Connecticut Business & Industry Association’s (CBIA) Bioscience Growth Council.

Dan Donovan is Co-Founder & CEO of rareLife solutions. His passion for improving life for those with rare diseases is based on personal and professional experience.

Erica Mumm, DNP, MSN, RN, is a Clinical Assistant Professor in the Quinnipiac School of Nursing, and the mother of a child with a rare genetic disorder called KCNQ2 encephalopathy.

Alissa DeJonge is a caregiver, Vice President of Research, Connecticut Economic Resource Center, Inc., and the mother of a 2-year-old with severe hemophilia.

Heather Knapp is a caregiver and mother of four; her youngest child, a 2-year-old boy, was identified at birth in the state’s newborn screening program with Phenylketonuria (PKU).

Father Nikolas Karloutsos is a caregiver for his daughter who has a BRAF mutation Rasopathy – probably Cardiofaciocutaneous (CFC) Syndrome, which causes marked behavioral health/cognitive issues.

Jennifer Ianuzzi is the caregiver for her child with Smith-Magnis Syndrome, a developmental disorder caused by chromosome 17 microdeletions. Besides congenital abnormalities, this syndrome causes behavioral health and cognitive issues.

Guyla Acsadi, MD, Ph.D., is the Division Head of Neurology at Connecticut Children’s Medical Center (CCMC) and Professor of Pediatrics and Neurology at the University of Connecticut School of Medicine. He has a Ph.D. in Molecular Genetics and expertise in neuromuscular medicine.

Colleen Brunetti of West Hartford has pulmonary arterial hypertension (PAH) and actively advocates for patients. She is a board member of the Pulmonary Hypertension Association.

Representative Jillian Gilchrest is a House Representative from West Hartford. She introduced bills addressing co-insurance assistance programs needed to help patients afford prescription medications.

Rosanne Smyle is a staff member of the Sofia Sees Hope patient advocacy organization – a global non-profit dedicated to improving the lives of those affected by rare inherited retinal disorders that cause blindness.

Donna Sciacca is Community Outreach and Education Manager for the Connecticut division of the American Liver Foundation. She is responsible for patient education programs and raising public awareness of liver diseases. She also serves on the Board of Donate Life CT, an organ donation and transplant coalition.

Jecy Belmont of Hamden is a patient and an advocate with the rare bile duct disease, Recurring Primary Sclerosing Cholangitis, and had to have a liver transplant. Despite his own health issues, Jecy works tirelessly to educate the public on liver-related health issues.

Representative Fred Camillo is a House Representative from Greenwich who advocates for rare pediatric blood cancers. For the last two years he has held Donna Marie Camillo’s Paws For A Cause Walk to Cure Childhood Leukemia to honor his sister who died of a pediatric blood cancer.

Danielle Delgado, a patient and advocate, is a Rare Action Network Youth Champion. She has been diagnosed with two rare diseases (von Willebrand and Ehlers Danlos) and works to bring joy to other children who are ill.

Living with LCA: ‘Know It’s Not Something You’re Going to Conquer in One Day’

The best of both worlds – that’s how Ashlyn Lincoln describes life with her two sons: 4-year-old Gunner, who was born without vision, and 7-year-old Ace, who is sighted.

“Both Ace and Gunner teach us many life lessons, regardless of who is sighted and who is blind,” says their 29-year-old mom.

The two boys wearing grey shirts, sitting next to each other — 7-year-old Ace and his 4-year-old brother Gunner. Gunner was diagnosed at 6 months with LCA10, caused by a mutation in his CEP290 gene. Doctors determined Gunner came into this world with no usable vision cells and no light perception.

Living in eastern Iowa, Ashlyn and her husband, Axel, noticed problems with Gunner’s eyes in August 2014, when he was about 2 weeks old: he stayed awake during the day and his eyes would not focus. The pediatrician examining their infant at 6 weeks wasn’t concerned, but to put them at ease, he referred them to the first in what would become a series of specialists, leading to lots of tests on Gunner’s eyes and on his parents’ genetic backgrounds.

Gunner was diagnosed with Leber congenital amaurosis (LCA) at 4 months; at 6 months in February 2015, his parents learned through genetic testing that he had LCA10, caused by a mutation in his CEP290 gene. Doctors determined Gunner came into this world with no usable vision cells and no light perception.

Last May, the family moved to a suburb of Nashville, seeking a stronger support system and better resources for Gunner, who is now thriving at the Tennessee School for the Blind.

Mr. Independent

Gunner loves prekindergarten, especially gym time and swimming lessons. He listens to try to understand musical instruments, and he loves making art and writing on the Brailler. “He’s pretty independent,” Ashlyn says.

Ace and Gunner have a typical sibling relationship, blaming each other, kicking each other, playing in their own world, she says. “Ace pretty much treats him like he is sighted. He adjusts (when he remembers Gunner cannot see) and goes right back to thinking it. It’s the best of both worlds.

“Their positive outlook and attitudes on life really help us be better ourselves. I just feel so lucky to be able to always have different outlooks on everything that others may not realize,” she said.

Gunner reading braille on blue braille machine — Gunner ‘reads’ his Braille books. Gunner’s reading is feeling the Braille but making up his own stories as he goes along.

Their daily life is like other families — the boys get up and get ready for school, eat breakfast, brush their teeth. After school they have snack, play, watch cartoons, do homework.

“This might be the only thing ‘different,’” Ashlyn notes “Ace’s homework is reading, so Gunner will bring his Braille books to the couch and ‘read’ them, too. Gunner’s reading is feeling the Braille but making up his own stories as he goes, which are usually pretty creative and cute.”

Ashlyn’s best-of-both-worlds might as well extend to a third “world,” given the influence, support, and love she and her family have received from Axel’s “battle buddies” from his time in the Marines.

War Wounds Inside and Out

Axel served four years’ active duty (followed by four years’ inactive duty), being deployed twice to Afghanistan and once to Haiti on a relief mission.

He came home from Afghanistan suffering from severe injuries when his right shoulder took the brunt of his Humvee’s impact after it ran over an IED, an improvised explosive device.

Axel and Ashlyn married as soon as they could after his return home. He has a 90 percent disability rating for the injury and for Post-Traumatic Stress Disorder (PTSD). About two years ago, Alex’s service dog, Tucker, became part of the family, helping with his PTSD and bringing comfort when his anxiety is high. Tucker’s also great with the boys and may someday be joined by a service dog for Gunner.

Axel wasn’t the only one to come home to the Lincoln family. The Marines came, too, and they are still part of it.

When Ashlyn was about to deliver her firstborn, her husband and his Marine friends were there. If the baby was a girl, she’d get to name her. If not, Daddy and his buddies had the honors.

“They gave me options. I had Achilles, Leonidas, Thor, Zeus – I was excited about that one.”

Achilles it was, or Ace, as they call their now first-grader.

It was Ashlyn’s turn to name their second boy, but she still wanted to honor their military family.

She explained that a gunner, sitting on top of a Humvee and rotating 360 degrees to protect its occupants, would throw himself on a badly injured compatriot as “an unwritten act of brotherhood.” The gunner in Axel’s case did not have to, but if Axel’s injuries were worse, he would have.

“So, to go along with the history of Ace’s name, we picked Gunner to name him.”

When she picked the name, she didn’t think much about looking up its meaning.

“Later on, after we got the diagnosis, I randomly decided to look up the meaning to find it meant ‘Battle Strong,’ which seems very appropriate on our adventure.”

You’re Overwhelmed and It’s OK

Life wasn’t always easy though. Dealing with Gunner’s diagnosis and coping with new realities was difficult. Here is the message she would like to extend to other mothers: “I was overwhelmed, and I was tired. I want to acknowledge that I know you’re overwhelmed and it’s OK.

“Take baby steps, know your local resources, and know that it’s not just something you’re going to conquer in one day.”

For support and to learn more about the LCA community, Ashlyn and a friend she met through an LCA Facebook group, traveled to Connecticut last fall to attend Hope in Focus (formally Sofia Sees Hope) LCA Family Conference, where she found a sense of community.

“It was fantastic,” she says. “There are families in other states and I’m not alone and here we are together. It’s just a moment where you can find comfort and know you’re not alone.”

Ashlyn said she does have a personal goal – one that she’s fulfilled right here.

“It’s hard to admit when your child is born and not perfect, and your husband has PTSD,” she said. “I hope that just by telling my story about LCA and veterans, that other families also can not feel so alone.”

The Role of the Patient Voice in Rare Disease Advocacy

It’s you. It’s all about you.

The journey from identifying a rare disease, to conducting studies, to approving a treatment, is long – but it always starts with the patient, and the information patients share among the medical, biotechnological and advocacy communities, as well as within the patient community.

At a fall gathering of families living with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs), Lisa Bernier found help and support for her visually impaired daughter for the first time in seven years. Bernier and her 25-year-old daughter, Aimee, traveled to the first-ever Hope in Focus (formally Sofia Sees Hope) LCA Family Conference at the insistence of Aimee’s optometrist.

“Advocacy ends after school ends,” Bernier says.

Aimee has Bardet-Biedl Syndrome (BBS), a complex disorder affecting many parts of the body, including the retina. She and others with BBS have retinal degeneration similar to retinitis pigmentosa (RP). Aimee had good experiences at the Perkins School for the Blind and graduated in 2011. Then it became difficult for her mother to find support.

“We’re basically on our own, to advocate for ourselves,” Bernier says. Her 30-year-old son also has BBS with many, but not all, of the same characteristics, and his vision loss is five years’ advanced.

(Editor’s note: Laws vary from state to state, but typically, public education is required to provide services to students in need until age 21, even after high school graduation. Children with learning disabilities who receive services under the Individuals with Disabilities Education Act (IDEA) or the Rehabilitation Act of 1973 (RA) in public elementary and secondary school may continue to have legal rights under federal laws in college programs and in employment. When students graduate from high school or reach age 21, their rights under the IDEA come to an end. As resources can vary greatly from state to state, finding support and resources for a child may fall on the family post-graduation.)

During the early years, Bernier searched for any information on BBS and RP through reading the New England Journal of Medicine, which described those with BBS as having low cognitive skills and dying from kidney failure. Even when Aimee was born, the doctors didn’t understand BBS. Bernier and her husband were grateful to be introduced to the doctors and genetic staff at Shriners Hospitals for Children in Springfield, Mass., where they helped with the health care needs of Aimee and her brother until they were 18.

Bernier said she was thrilled to be at the conference in a roomful of retinal experts, patient advocates, and families attending the Oct. 6 gathering.

Active Patient Community Is Key

During multiple sessions, attendees heard updates on research, learned about the roles played by organizations developing treatments, and gained insight into how an active patient community can support and accelerate treatment.

Spark Therapeutics, Applied Genetic Technologies Corporation (AGTC), National Organization for Rare Disorders (NORD), Foundation Fighting Blindness (FFB), and Sofia Sees Hope are among the many partners working to collaborate with and learn from the patient community to propel research momentum.

More than 50 people from New England, across the country and Mexico attended the conference, including the session titled “The Role of the Patient Voice in Developing Treatments for Rare Disease.” Sofia Sees Hope Executive Director Annette Tonti moderated a three-member panel comprised of:

• Jamie Ring, Head of Patient Advocacy at Spark Therapeutics, which developed the gene therapy called LUXTURNA™ that helps restore vision to people with RPE65 genetic mutations;

Jill Dolgin

• Jill Dolgin, PharmD, Head of Patient Advocacy at AGTC, a clinical stage biotechnology company focusing on rare IRDs and developing therapies that replace “broken” genes with normal, functional genes;

• Kristen Angell, Associate Director of Advocacy at NORD, a voice for the 30 million Americans with rare diseases and the official U.S. sponsor of Rare Disease Day, which takes place annually on the last day of February.

Personal experiences of family and/or friends dealing with rare diseases motivated all three women to become advocates for patients. As Angell paradoxically put it: “Rare disease has always been common in my family.”

Ring, Dolgin and Angell are a critical part of a relatively new profession – patient advocacy – to help people find support and learn how to become engaged in the process of drug development and research to find treatments for rare diseases.

Kristen Angell

Ring from Spark Therapeutics said she has a passion for helping amplify the voices of the patients and their families and making sure those voices are understood and considered.

“People feel their story doesn’t matter,” she said. “The thing in rare disease is that YOU ARE the expert,” and patient information is critical to doctors and biotechnology companies alike. “At Spark, we want to make sure that patient voice has a seat at the table.”

Connections and Clarity

“There’s no one-size-fits-all,” Ring said. “Simply connecting with other people is probably the most important thing you can do … and having the clarity of your diagnosis allows you to do that most effectively.”

For IRDs, it is essential to know your gene and it’s a good idea to register with My Retina Tracker, a confidential, online, patient registry managed by the Foundation Fighting Blindness. Patient data tracked through registries and collected by researchers helps scientists and biotechnology companies develop clinical drug trials.

AGTC’s Dolgin told the audience that 7,000 rare diseases exist, but fewer than 15 percent have advocacy groups that can assist patients with resources, advocate for clinical research, and find access to vital therapies.

Dolgin, a trained pharmacist, emphasized: “As patient advocates in the pharmaceutical industry, we’re representing the patient at the corporate table.” A priority for the company is to find and educate people with IRDs and encourage them to get genetically tested.

Patients need to be identified, encouraged to enroll in natural history studies, and followed systematically through natural history studies long before beginning the clinical drug trials necessary to seek approval for commercial use from the U.S. Food and Drug Administration. Natural history studies are critical components to clinical research, providing an understanding of the rate of disease progression without treatment to the rate of disease progression after treatment.

Angell said NORD developed 20 patient registries for 20 different diseases in the last few years. She oversees the Rare Action Network, with 5,000 members nationally and ambassadors in 32 states, including Connecticut. The network empowers patients and families to directly reach out to lawmakers to encourage and support the rare disease community.

Angell also encouraged using social media and suggested setting up programs with local chambers of commerce to make people aware of patients in their own community.

“Awareness goes hand in hand with advocacy.”

Shared Experiences & Knowledge

The role of the patient voice continues even more so after development of a treatment. Ask the people with families living with LCA. Sofia Sees Hope has been working to connect these families who have similar concerns and many of them have supported one another and become friends.

Tami Morehouse attended the patient advocacy session and served as panelist in a conference session earlier in the day called “The Road to Treatment: Understanding How Therapies Are Developed.” She is a pioneering LCA patient, in that at age 44 in 2009, Morehouse became the oldest person at the time to take part in the successful Phase 1 RPE65 gene therapy trial, a precursor to the FDA’s December 2017 approval of LUXTURNA.

She’s had many conversations with people involved in the process of LCA treatment or are hopeful they might be involved in a future clinical trial. The first person she talked with was Sarah St. Pierre Schroeder, the mother of now 10-year-old Creed Pettit. They communicated last April on the eve of the boy’s surgery in which doctors at Miami’s Bascom Palmer Eye Institute would inject under his retina a human-engineered virus that gives instructions on how to produce an essential protein for vision.

“I kept thinking about her and Creed in the days prior to Creed’s procedure,” Morehouse said. “I remembered how I felt when I was in their shoes and couldn’t help but reach out to them on the night before Creed’s procedure. As it turned out, Sarah seemed very open and happy to talk with someone who had been there and understood a little about all that they were feeling and wondering about.”

Creed’s mom felt enormous relief in talking with Morehouse.

“I will never forget the emotions I felt when Tami reached out to me,” St. Pierre Schroeder said. “Every sentence in her email brought me more comfort about what I was doing for Creed. She was so open about her journey, I felt like we had known each other forever.”

LUXTURNA took decades of research, many millions of dollars and countless advocacy connections to come to fruition. It is a long journey that begins with the patient and comes full circle.

After Treatment with LUXTURNA, It’s a New Year, New Vision

Two little girls – one on the East Coast and one on the West Coast – ring in this New Year with something they’ve never had before – their vision.

Eight-year-old Hannah Reif of Maple Glen, PA, and 6-year-old Monroe Le of San Diego, CA, underwent breakthrough genetic therapy surgeries to fix a mutation in their RPE65 gene, which had caused a rare inherited retinal disease (IRD) called Leber congenital amaurosis (LCA).

Dr. Albert M. Maguire performed Hannah’s surgery at Children’s Hospital of Philadelphia (CHOP) in July. Dr. Aaron Nigel performed Monroe’s surgery at Children’s Hospital of Los Angeles (CHLA) in August.

Dr. Maguire is part of the married research team that brought the genetic therapy treatment developed by Spark Therapeutics called LUXTURNA™ to fruition. Dr. Jean Bennett and Dr. Maguire researched and conducted studies working with mice and dogs, and then humans in clinical trials. They developed the first genetic therapy treatment for LCA2 (RPE65), and the first treatment in the United States for any inherited disease. The U.S. Food and Drug Administration approved it in December 2017.

Hannah had a milder form of LCA, with night blindness and poor peripheral vision. Her mother, Amy, still marvels at the idea of genetic research focusing on her daughter’s gene mutation.

Using a syringe, Dr. Maguire injected under Hannah’s left retina a human-engineered virus containing a healthy version of the gene, which supplants the mutated gene. Within 24 hours of the July 10 surgery, Hannah had increased sensitivity to light; six days later, she could see the water line in her glass, rather than sticking her finger in the glass to feel for the water. On Day 7, she saw a star for the first time; six days later she underwent surgery on her right eye.

‘She can see’

Hannah can now see everything in her environment more easily and her visual acuity has improved from 20/200 to 20/100.

Shortly after surgery, Hannah flipped on her desk lamp and was so startled by the brightness that she began to cry. Now, Hannah says, “I don’t even remember what it was like before my surgery.”

Amy and her husband, Chris, revel in their little girl playing with her horse figurines in a dark room on a cloudy day, and they say her night vision has improved a thousand-fold.

Hannah smiling big with lit birthday candles in front of her — 8-year-old Hannah Reif of Maple Glen, PA.

“It’s just wonderful to watch her do things and see things. She’s not saying, ‘Hey, look what I’m doing.’ She just does it. She can see.”

Her mom said most recently, she’s just discovered the blue veins under her skin and the “H” and “C” on the bathtub faucets.

Her parents and others have noticed she’s more confident in school, in church and socially with her friends. Although she still needs some supports in place at school, Hannah’s doing great in her second-grade class.

On past Christmas mornings, she’d open a gift and have to be told what it was. Not this year!

Amy also recalled Hannah walking into their church sanctuary, brightly decorated for Christmas with ribbons, greens and flowers.

“As she walked through the doors, she looked around in amazement and said in a soft, sweet voice, ‘Wow!’ ”

‘Like night and day’

Kindergartener Monroe Le underwent surgery Aug. 14 on her left eye and a week later on her right eye.

“She’s like night and day,” said her mom, Heather.

Before surgery, Monroe’s vision was 20/300 for both eyes and now it’s 20/150.

So much has changed since 2012; Heather knew something was wrong with baby Monroe at 2 weeks when she looked toward the light rather than her.

Monroe with her hands near her eyes — 6-year-old Monroe Le of San Diego, CA.

“I remember crying and saying to my husband, ‘She’s blind. She’s blind,’ and he said, ‘She’s not’ … from 2 weeks until she was diagnosed, we were knocking on doctors’ doors.”

Heather was scared to have her daughter genetically tested, but she knew it would give her answers. Doctors diagnosed Monroe with LCA shortly after she turned 4; two months later she received her RPE65 genetic diagnosis.

“Oh, I’m so happy that I did it,” Heather said. “If I hadn’t gotten that test, Monroe wouldn’t have been a candidate for LUXTURNA.”

Her daughter received help to get up to speed with motor skills, and early on met a little girl named Penny, her forever friend, who has had difficulties with speech.

“They’re amazing, they love each other so much,” Heather said. “They complemented each other so well because Monroe would help her with the talking and Penny would help her with the seeing.”

Two days after her first surgery, Monroe insisted on being the one to retrieve a cap from an ointment tube dropped on the carpet. “She covered her non-surgerized eye and found it immediately.”

In school, Monroe no longer needs special lighting and doesn’t have to sit in the front of the room. “She even has been able to play four square.”

Monroe also sees her most favorite place in the world, Disneyland, and her most favorite attraction – Pirates of the Caribbean with Capt. Jack Sparrow – in a whole new light.

“There have been numerous times in a trip there where she asks me, ‘Mama is that new, or has it always been there and I’m just seeing it for the first time?’ ”

Heather and her husband, Bruce, see a much more confident little girl who no longer needs to hold hands in dim places.

“I can’t believe it’s the same girl who was so timid and afraid to let go of my hand,” she said.

Natural History Studies Vital to Finding Treatments for Rare Diseases

The lack of information on rare diseases can create difficulty in developing drugs to treat them. To help, it is important to study the natural history of rare diseases.

Compared with common diseases, researchers know little about rare disease signs and symptoms, how the disease changes over time, and ways in which the disease affects the lives of patients and their families.

Natural History studies track the course of a patient’s disease over time. They identify demographic, genetic, environmental, and other variables that shape the drug development process

Dr. Eric Pierce, Massachusetts Eye and Ear

“In general, Natural History studies can be helpful precursors to clinical trials of potential treatments for inherited retinal degenerations for multiple reasons,” said Eric A. Pierce, MD, Ph.D., with Massachusetts Eye and Ear. “For example, they can help identify the tests or measurements which would be most appropriate to use as endpoints in therapeutic studies.”

Another way to view such studies is to “Begin with the end in mind,” as suggested by Anne R. Pariser, MD, in her work on Natural History studies for the U.S. Food and Drug Administration

Natural History data provide knowledge and an independent understanding of a disease, while establishing an essential foundation for building drug development programs. These studies have been characterized as the “pillar of epidemiologic research on rare conditions,” and, along with assisting in developing drugs, they help with patient care, best practices, research priorities, and clinical trial readiness, according to Dr. Pariser, director of the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences.

The studies give scientists and researchers a better estimate of the prevalence of the disease, help identify potential biomarkers, affect clinical outcome assessments, and determine the feasibility of established assessments for clinical trials.

A rare disease is a disease or a condition that affects fewer than 200,000 Americans. With a relatively small number of people affected by the 7,000 diseases considered rare, scientists sometimes face daunting odds in finding enough people meeting study requirements.

In the Leber congenital amaurosis (LCA) community, scientists are looking for people to take part in different stages of drug development.

Editas Medicine, a genome-editing company based in Cambridge, Mass., is sponsoring a Natural History study of LCA10, known by its gene name CEP290, to inform the design of potential future treatment studies involving genome editing in LCA10. The purpose of the study is to understand and better describe the clinical course of LCA10-related retinal degeneration that is associated with a particular genetic change in the CEP290 gene called c.2991+1655A<G.

The study will be used to characterize the range of visual function in patients, evaluate which visual tests may be most useful, and determine the rate of change in visual function over a one-year period.

Dr. Pierce, director of the Ocular Genomics Institute and the William F. Chatlos Professor of Ophthalmology at Massachusetts Eye and Ear (MEE) and Harvard Medical School, is the principal investigator at one of the seven sites in the United States and Europe actively recruiting patients for this Natural History study. For more information, call MEE at 617-573-6060 or visit www.enlightenLCA10study.com/. Study details also can be found at ClinicalTrials.gov Identifier: NCT03396042.

The two groups of conditions below describe the parameters for taking part in the study. Taken together, they illustrate the potential difficulty in finding the 40 participants needed for the study of this rare disease.

Patients must meet six conditions, known as inclusion criteria:

3 years of age or older;
Abnormally decreased vision, with examination and test results consistent with inherited retinal degeneration due to mutations in the CEP290 gene;
Able to cooperate with assessments relative to the patient’s age;
Clear ocular media and adequate pupil dilation in at least one eye to permit good-quality examination of the interior surface of the eye opposite the lens and optical coherence tomography (OCT) imaging;
Able to successfully navigate a mobility maze at a level of difficulty below the maximum performance level.

Patients cannot participant if one or more of the five following conditions, called exclusion criteria, exist:

Visual acuity of no light perception in both eyes;
History or current evidence of a range of medical conditions that may preclude attending scheduled study visits, safe participation in the study, or affect the study results;
History or current evidence of ocular disease in either eye that may confound assessment of this inherited retinal disease;
Currently receiving gene therapy and/or has received gene therapy;
Currently enrolled in an investigational or interventional drug or device study and /or has participated in such a study within 30 days of screening.

If you or your loved one is interested in taking part in a Natural History study, please register with the www.MyRetinaTracker.org, a free, secure, online registry managed by the Foundation Fighting Blindness for patients who have been diagnosed with an inherited retinal disease (IRD).

Participants currently are being recruited for a Foundation-funded Natural History study of disease progression in patients with USH2A-related retinal degeneration associated with congenital hearing loss (Usher syndrome type2a) or non-syndromic retinitis pigmentosa (RP39).

Living with LCA: ‘It does no good to have pity’

Mikayla Larson, a 30-year-old mother living with a rare inherited retinal disease (IRD) called Leber congenital amaurosis (LCA) wants to reassure children living with the same disease that they’re going to be OK.

“I feel that there are a lot of parents out there that are terrified for their kids to live this life,” she says from her southeastern Texas home. “And while it’s not ideal, it doesn’t mean that they aren’t capable of living a fulfilled life and love it like they should.”

Larson’s form of LCA, known as LCA6 caused by a mutation of the RPGRIP1 gene, is considered rare even within the realm of rare disease, accounting for only about 5 percent of the total LCA patient population. LCA in its more than two dozen genetic mutations affects fewer than 4,000 people in the United States; it accounts for 5 percent of all retinal dystrophies and 20 percent of blindness in school-age children.

Photoreceptors lacking RPGRIP1 are unable to maintain the retina’s light-sensing outer segments, resulting in patients losing retinal functions at an early age but retaining photoreceptors in the central retina well into adulthood, according to the National Institutes of Health.

Having grown up with vision loss, Larson says children born with LCA need the support of knowing that others have gone through life with the same inherited retinal disease and survived the bullying, mistreatment or embarrassment.

“I think I’d tell any parent that getting their child into therapy is a necessity,” she says. “Most of us need help navigating these very important emotional things in life. Like when you get made fun of, or when your sibling or friends get their driver’s license and you can’t. Just coping with what this will mean for their life and how to navigate it.”

Larson speaks from experience. More than anything, she wants to take the element of pity out of dealing with the disease.

“It does no good to have pity, or on the other side, to put people on a pedestal for doing things everyone can do,” she says. “It’s demeaning and degrading as a human to get praise for doing something everyone else can do, just because we can’t see well.”

She has some light perception and equates her field of vision to about the length of a drinking straw. With lenses, her visual acuity is 20/200 and 20/400.

Larson had vision loss early and began learning Braille at age 4. She was diagnosed at age 12, although incorrectly, with Retinitis Pigmentosa (RP). She worked with specialists to improve her independence but being around other kids never was easy. She was teased.

“You need extra help. You don’t want to stick out,” she recalls. “I made myself want to fly under the radar.”

By middle school, she didn’t want to deal with Braille or learn more about skills and concepts to help her get around and to be more independent.

“It was something that I just despised. I don’t want to be identified that way. I don’t want to be that kind of person.”

Larson did, however, go to Arizona State School for the Deaf and Blind in Tucson for her last two years of high school, graduating in 2007. She pursuing job training through the state’s Vocational Rehabilitation (VR) services, but the program lacked funding and was not accepting new clients.

While on the VR program waiting list in 2008, she met Andrew, who is now her husband, and in 2009 became pregnant with their first child.

Mikayla in a red shirt and Andrew next to her in a white shirt. There is a Christmas tree in the background — Mikayla and Andrew Larson

They married in 2011, when their first-born, Conner, was 1. The day after the wedding, she was pregnant with her little girl, Aubrie. They lived outside of Phoenix and then moved even farther from family, southeast to a small Arizona town for Andrew’s first job as a chemical engineer.

The family moved in 2013 to another small town in southeastern Texas.

She is the mother of four children, “three here and one in heaven.” Their son Liam died from Sudden Infant Death Syndrome on April 3, 2015. He was 4 months old.

“My kids are very independent,” she says of 8-year-old Conner, 6-year-old Aubrie and Carter, 5. “They get up on their own with an alarm and get themselves dressed, and then Andrew and I make breakfast and make sure they have brushed teeth and are ready for school.”

Not being able to drive is a big deal, especially in rural Texas with no public transportation. Her children are picked up for school and driven home. Cooking has gotten easier and more comfortable with the advent of Air Fryers and Instant Pots.

Tripping over toys and three cats – Max, Teddy and Chester – is part of life. She shops with family and reads with the help of reading glasses and her phone’s camera, zooming in for small print.

“I would say I’m pretty self-reliant and just do what I need without any real thought.” She does suffer from anxiety.

“Once we lost Liam, the anxiety kind of crossed over into other parts of my life.” She is seeking help and open to resources.

Her biggest advocate, Andrew, contacted Spark Therapeutics, the developer of a new gene therapy called LUXTURNA™ for LCA2 (RPE65) because he thought she might have that form of LCA. The company suggested she receive genetic testing.

When Larson visited an ophthalmologist for a genetic testing referral, she was met with disbelief. The doctor said she couldn’t have LCA. “It’s too rare. That’s not possible,” he told her.

She finally got the doctor’s signature for testing, and, in January 2017 at age 28, her test revealed a mutation in her RPGRIP1 gene, also known as LCA6.

Larson says she was then in touch with Eric Pierce, MD and PhD, who is conducting lab-based research on RPGRIP1 at Massachusetts Eye and Ear. Dr. Pierce’s gene research involves evaluating the latest treatment version in a mouse model, with the plan to generate a gene-therapy vector for toxicology studies, ultimately leading to clinical trials.

While hopeful for a treatment, Larson prides herself on helping others and moving forward.

“We are still smart and capable. We have different challenges but that doesn’t mean we aren’t able.”

The Road to Treatment: Understanding How Therapies Are Developed

Successful clinical drug trials are a cornerstone of U.S. Food and Drug Administration approval, such as with LUXTURNA™, a ground-breaking genetic therapy that helps restore vision in Leber congenital amaurosis (LCA) patients with a mutation in their RPE65 gene (LCA2).

But the FDA’s Dr. Wiley A. Chambers II cautioned LCA families and patients at a recent LCA Family Conference hosted by Hope in Focus (formally Sofia Sees Hope) to make sure their clinical trial of interest is real and not bogus.

Clinical trials drive research with the goal of finding treatments or cures that need FDA approval before commercial use. Twenty-three gene-based clinical trials targeting 13 genes are underway, including an LCA4 (AIPL1) trial, according to Foundation Fighting Blindness. More than 20 retinal cell therapy trials are in progress, and another 100 genes are under investigation in the preclinical pipeline, the Foundation reported.

Dr. Wiley Chambers II, MD

Chambers is supervisory medical officer in the Office of New Drugs in the FDA’s Center for Drug Evaluation and Research. The center’s mission is to assure that safe and effective drugs are available to the American people.

He was among three panelists who joined moderator Jeffrey Finman, PhD., of Jupiter Point Pharma Consulting, in exploring the development and approval of new treatments for rare diseases, including LCA. The panel was part of Sofia Sees Hope’s first-ever LCA Family Conference in Groton, CT, on Oct. 6.

Jennifer Hunt with Editas Medicine, a discovery-phase biotechnology company, and Tami Morehouse, a participant in the breakthrough LCA2 (RPE65) genetic therapy trial joined Chambers on the panel.

Not all trials are ‘real’

“Be aware of any trial where you’re charged for the drug or biologic product,” Chambers said. “If they’re charging you, watch out.”

He said every clinical trial is assigned an Investigational New Drug (IND) number. No number, no real trial.

Chambers sited the disastrous case of a 77-year-old woman who traveled to Georgia to have stem cells injected in her eyes in the hopes of a cure or at least help for her macular degeneration. The procedure entailed taking fat from the woman’s belly, separating stem cells that naturally occur in fat, and injecting them into her eyes to regenerate damaged tissue.

The procedure, not covered by insurance and not approved by the FDA, cost the woman $8,900. Within three months, her retinas – the eye’s layer of light-sensitive cells – had peeled away from the rest of her eyes. Her vision deteriorated to where she only could see hand movement before her eyes. She no longer could find her way on her own.

Risks vs. benefits

To fulfill its mission, the FDA monitors the drug development process during investigational stages, approves new drug products that are safe and efficacious, and monitors post-approval adverse events.

The FDA does not conduct clinical studies, choose which products a company will study, force companies to market products, or regulate the practice of medicine.

Approval depends on whether the benefits of a drug outweigh the risks.

“There is always a risk,” Chambers said. “If it does anything positive, it does something negative…It’s a balancing act.”

The factors weighed in this balancing act of forces and interests, clinically referred to as equipoise, consist of:

the potential benefit from the drug product;
the potential adverse event from drug;
the potential safety from not taking a new drug;
the potential loss from disease condition if not taking an effect therapy;
and missing out on an alternative therapy.

Exploring different routes to a cure

Panelist Jennifer Hunt, vice president of clinical operations for Editas Medicine, described the process of developing a medicine that corrects mutated genes through editing. Using her company’s investigational medicine, EDIT-101, as an example, she detailed the course for finding an ocular medicine to treat patients with LCA10 (CEP290). LCA10 is one of the leading causes of blindness beginning in the first years of life.

Editas is working on developing CRISPR-based medicines (pronounced crisper, and meaning Clustered Regularly Interspaced Short Palindromic Repeats). CRISPRs are specialized stretches of DNA; the protein Cas9, meaning CRISPR-associated, is an enzyme that acts like a pair of molecular scissors, capable of cutting strands of DNA, according to LiveScience.

EDIT-101 is poised to be the first in vivo CRISPR medicine used in human trials. Before those clinical trials begin, researchers have been looking to answer key questions, such as, does editing restore protein expression in cells and what are the best clinical trials for patients?

Editas researchers also are conducting an ongoing natural history study with 40 patients, ages 3 and older. They are followed up with six times over the course of a year at seven sites – four in the United States and three in Europe – to characterize them, assess their vision changes and validate study endpoints.

Editas has stated it plans to file an Investigational New Drug (IND) application with the FDA in October. Once allowed by the FDA, Editas can begin clinical trials.

The FDA evaluates three study phases of a proposed new drug:

Phase 1 investigation of new drugs in humans is a phase of research to describe clinical trials that focus on the safety of a drug. They are usually conducted with healthy volunteers, and the goal is to determine the drug’s most frequent and serious adverse events and, often, how the drug is broken down and excreted by the body. These trials usually involve a small number of participants.
Phase 2 consists of research to describe clinical trials that gather preliminary data on whether the drug is effective in people who have a certain condition/disease. Participants receiving the drug may be compared to similar participants receiving a different treatment, usually an inactive substance, called a placebo, or a different drug. Safety continues to be evaluated, and short-term adverse events are studied.
Phase 3 research is to describe trials that gather more information about a drug’s safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. These studies typically involve more participants.

The human side of a drug trial

The third panelist, Tami Morehouse, spoke to the safety and effectiveness of LUXTURNA, a medication developed by Spark Therapeutics that the FDA approved last December for commercial use. Tami made medical history at age 44 when she became the oldest person to participate in the successful Phase 1 LCA-RPE65 genetic therapy clinical trial in 2009.

Dr. Jean Bennett and her husband, Dr. Albert Maguire successfully used the treatment on Lancelot, a dog born blind with a mutation in his RPE65 gene, before testing the medication on humans.

Prior to the trial, Tami could see faces, but much of the time she saw dark, gray haze. She woke up every morning when her alarm clock went off, wondering, would this be the day she would wake up with no vision.

“I had no hope whatsoever,” she said.

Her husband, Michael, added, “That’s where she’d be today were it not for that trial.”

Michael learned of Dr. Bennett and her ongoing clinical trials at Children’s Hospital of Philadelphia (CHOP) from a radio broadcast.

The trials resulted in FDA approval of LUXTURNA, a gene therapy that enabled Tami to regain some of her vision.

“It was an incredible experience that was a long time coming,” she said.

Tami said she is “walking, living proof” of the treatment’s safety and effectiveness. She told her audience to keep in mind that older people, along with children and young adults, can benefit from the treatment.

“Don’t give up hope and keep looking.”

IRD Milestones: Reasons to Be Excited

1971 – Just those numbers in white on a black page appeared on the big screen.

That’s how Brian Mansfield, PhD., began his presentation to families and patients living with Leber congenital amaurosis at Hope in Focus (formally Sofia Sees Hope) LCA Family Conference on Saturday, Oct. 6, in Groton, CT.

The year on that otherwise empty page marked the founding of Foundation Fighting Blindness – a time when patients losing vision often heard, “Go home. Learn Braille. You are going to go blind.”

Mansfield’s audience at the conference was made up of people diagnosed with a variety of rare inherited retinal diseases, including LCA, their caregivers and relatives, and representatives of various bio-tech and pharmaceutical companies working in the IRD arena. It was Sofia Sees Hope’s first such conference.

Dr. Brian Mansfield

Mansfield is the foundation’s senior vice president of research. He brought his audience up to date with information about clinical trials for inherited retinal diseases (IRDs), the rich preclinical therapeutic pipeline, how the Foundation uses money to move treatments forward and what people can do to drive change for IRD treatments and therapies.

His presentation culminated in a projected slide filled with logos of bio-technology and pharmaceutical firms, many of which are in contact with the Foundation, and represent the ever-expanding research and development field to help people with visual impairment.

$725 million in funding

In its 47 years, Foundation Fighting Blindness has raised more than $725 million toward research, development and public health education. It partners with several dozen U.S. non-profit organizations, including Sofia Sees Hope.

Mansfield traced the rapid trajectory of identifying genes causing retinal disease, from the founding of the National Eye Institute in 1968 through the Foundation’s funding of the Berman-Gund Laboratory for the Study of Retina Degenerations in 1971. It included the 1989-90 work identifying the rhodopsin gene as the genetic cause of Retina Pigmentosa (RP), and conducting the first retinal disease gene therapy trials in 2007. And of course culminated in last December’s federal approval LUXTURNA™, a gene therapy that helps restore vision in people with LCA2 (RPE65).

For people affected by LCA, more than 80 percent can now get a clear genetic diagnosis. For IRDs, more than 260 retinal disease genes have been identified, and the overall success in providing a clear genetic diagnosis is 65 percent.

Mansfield said that 23 gene-based clinical trials targeting 13 different genes are currently underway, including the LCA4 (AIPL1) gene trial by MeiraGTx.

A promising pipeline

He said the gene therapy preclinical pipeline is promising, with 100 genes under investigation. Researchers also are conducting preclinical studies of optogenetic gene therapies, in which light is used to control genetically modified retinal cells.

ProQR is planning a pivotal Phase 2/3 gene patch clinical trial for the LCA10 (CEP290) gene that involves injecting a short DNA molecule to cover up the faulty instruction the gene otherwise gives to act incorrectly. Also, Mansfield said, Editas Medicine is close to gene editing clinical trials, called “cut and paste” because an enzyme seeks out and repairs the defective gene. Another editing therapy in the pipeline, called base editing, essentially backspaces over the mutation and types the correction over it.

Also underway are more than 20 retinal cell therapy trials in which lost cells are put back to replace missing cells or used as biofactories to produce factors that help stabilize the retinal cells.

To help propel research and trials, the Foundation funds Career Development Awards to attract and retain clinician researchers dedicated to retinal disease research. The Foundation also provides awards to the brightest minds in the field, individually or as a team, to drive research.

It also gave 16 years of preclinical research support amounting to $10 million toward Spark Therapeutics’ commercial gene therapy, LUXTURNA, the first directly administered gene therapy approved in the United States that targets a disease caused by mutations in a specific gene – LCA RPE65.

Mansfield talked about how Applied Genetics Technology Corp. (AGTC) leveraged an early Foundation investment to garner $265 million to develop genetic therapies, some of which are in clinical trials.

The Foundation also supports 20 centers – the International Clinical Consortium – that have standardized assessment protocols for clinical trials.

Patient involvement is key

To continue to attract industry interest, Mansfield detailed the Foundation’s My Retina Tracker registry, with its tagline “Track your vision. Drive the research.” It’s a free, secure, online patient registry that notifies registrants of clinical trials and gives researchers access to their disease data – but not their personal information – to advance studies on any number of research and therapy development efforts associated with IRDs.

The power of My Retina Tracker is optimized by registrants getting a genetic diagnosis. Sofia Sees Hope donated $65,000 to help people receive genetic testing and counseling.

Mansfield emphasized to his audience the vital importance of their knowledge, what they carry with them, and that patient input is critical to drug development.

2018 LCA Family Conference Presentations

Children with canes and their parents smiling — 2018 LCA Family Conference Attendees

On October 5-6, 2018, Hope in Focus (formally Sofia Sees Hope) held its first Family Conference for LCA and IRD families and caregivers. Thank you to all who attended and thank you to our sponsors, who made it all possible!

This event was the culmination of our first five years of work and fulfills our mission to connect LCA and IRD patients and families to researchers, industry experts and others who are keenly interested in LCA and and rare inherited retinal diseases. The goal of this conference was to get you excited about advances in research, deepen your understanding of the roles various organizations play in developing treatments, and provide insight into how an active patient community can support and accelerate treatment.

Below is the description of the panels and included are the presentations given by some of the speakers.

IRD Milestones: Reasons to Be Excited

Dr. Brian Mansfield, Senior Vice President of Research, Foundation Fighting Blindness

At no time in history has there been more promising research applied to genetically inherited eye disease.
Hear from our partners at the Foundation Fighting Blindness about how much easier it is today to access
genetic testing and genetic counseling and the exciting research and trials that are underway.

Download the presentation.

The Road to Treatment: Understanding How Therapies Are Developed

Moderator: JEFFREY FINMAN, Jupiter Point Pharma Consulting, LLC, Board Member, Sofia Sees Hope
Panelists: • DR. WILEY CHAMBERS, Supervisory Medical Officer in the Office of New Drugs at the FDA
• JENNIFER HUNT, Vice President of Clinical Operations, Editas Medicine
• TAMI MOREHOUSE, Phase 1 RPE65 Trial Subject RPE65 genetic therapy trial

From research to federal approval, what does it take to develop and approve a new treatment for rare disease? We’ll explore the regulatory, clinical, and industry aspects so you have a deeper understanding of what is involved in developing treatments, including how rare disease is different.

Download Dr. Chambers’ presentation.

Download Editas presentation.

Thank You to these speakers and organizations for their participation!

Kristen Angell, Associate Director, Advocacy, National Organization for Rare Disorders (NORD)
Beth Borysewicz, TVI for State of Connecticut and Sofia Sees Hope Board Director
Dr. Wiley Chambers, Supervisory Medical Officer in the Office of New Drugs at the U.S. Food and Drug Administration
Michael & Sela Cornell, Father and daughter from Chicago
Jill Dolgin, Head of Patient Advocacy, AGTC
Jeffrey Finman, Jupiter Point Pharma Consulting, LLC and Sofia Sees Hope Board Member
Jennifer Hunt, Vice President of Clinical Operations, Editas Medicine
Dr. Brian Mansfield, Senior Vice President of Research, Foundation Fighting Blindness
Tami Morehouse, Phase 1 RPE65 Trial Subject RPE65 genetic therapy trial
Jamie Ring, Head of Patient Advocacy, Spark Therapeutics

LCA Family Conference: The Role of the Patient Voice

Hope in Focus (formally Sofia Sees Hope) is holding its first LCA Family Conference on Saturday in Groton, CT. This event is the culmination of our first five years of work and fulfills our mission to connect LCA patients and families
to researchers, industry experts and others who are keenly interested in LCA and and rare inherited retinal diseases.

The goal of this conference is to provide updates about advances in research, deepen understanding of the roles various organizations play in developing treatments, and provide insight into how an active patient community can support and accelerate treatment.

We are pleased to welcome Jamie Ring, Head of Patient Advocacy, Spark Therapeutics; Jill Dolgin,
Head of Patient Advocacy, AGTC; Kristen Angell, Associate Director, Advocacy, National Organization for Rare Disorders (NORD) to our panel, “The Role of the Patient Voice in Developing Treatments for Rare Disease.”

Kristen Angell took a few minutes recently to chat with us about her work.

Kristen Angell, NORD

Angell’s devotion and exuberance in her work with people with rare disease is literally in her DNA. A graphic designer by trade, life carried her in a different direction when she began volunteering for local non-profits. Shortly after, when her mother was diagnosed with breast cancer, Angell “dove in feet first.”
Then her father was diagnosed with stage 4 pancreatic cancer. Her cousin, who is her best friend, has cystic fibrosis, and later her sister was diagnosed with a rare blood cancer.

“Rare disease has always been common in my family,” she said. “Rare diseases in general don’t have a lot of research and funding, so I ran with that and began networking and started learning about rare diseases. I decided I wanted to do more in the community. I had a passion for patient advocacy.”

Before joining the National Organization for Rare Disorders (NORD), Angell got her first taste of volunteer advocacy when she worked on federal legislation resulting in the 2012 Recalcitrant Cancer Research Act requiring the National Cancer Institute to develop scientific framework for pancreatic and other deadly cancers.

Angell, NORD’s Associate Director of Advocacy since 2014, works with rare disease patients, families, industry leaders, medical professionals and legislators spanning the 50 states on public policy and advocacy initiatives to improve the lives of those affected by rare disease.

Angell runs NORD’s Rare Action Network that has 5,000 members nationally and ambassadors in 31 states. NORD, a voice for the 30 million Americans with rare diseases, is the official U.S. sponsor of Rare Disease Day, which takes place the last day of February each year.

She works to empower patient advocates, making sure they have the tools and resources to educate the community and to join the Rare Action Network. She helps advocates set up meetings with elected officials and overcome their fear of talking to policy makers.

She said it warms her heart that she can help her family and others who live with rare disease.
“I literally say I am one of the luckiest people,” she said. “I have the best job and I look forward to going into work each day.”