Author: Eve Orcutt

LCA Family Conference 2019: A Lot to Unpack!

The news is out from our 2019 LCA Family Conference  and it’s terrific!

Families living with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs) learned at Hope in Focus (formally Sofia Sees Hope)’s July 27 conference in Philadelphia that they are living in a time of the most dramatic growth ever in genetic research. 

And – as with most good things – there is a caveat: Patience.

While researchers report a record number of genetic studies in various stages, they face long and arduous journeys in developing federally approved treatments.

Two attendees next to the welcome poster at the 2019 LCA Family Conference

In her keynote address, Dr. Katherine High, Co-founder, President and Chief Scientific Officer of Spark Therapeutics, said initiation of a clinical trial to licensing of a product easily can take 7 to 10 years.

“My take-home message is patience is a requirement in drug development.”

Dr. High and a team from Children’s Hospital of Philadelphia (CHOP) led by Dr. Jean Bennett and Dr. Albert Maguire from Spark Therapeutics developed LUXTURNA™, the first genetic therapy for any inherited rare disease in the United States and the first genetic therapy for RPE65, one of the more than 25 gene mutations caused by LCA. 

The drug received federal approval in December 2017, creating the opportunity for visually impaired patients to undergo surgery and experience improved eyesight. Federal Food and Drug Administration (FDA) approval also signaled increased scientific and public optimism for expanding genetic research into treatments and cures for inherited diseases.

View our Photo Gallery from the 2019 LCA Family Conference!

Connecting patients to patients

Speakers sitting during a panel

More than 80 people – patients, family members, advocates, doctors, researchers and biotech industry leaders – gathered at the conference from July 26-28 at the Warwick Hotel Rittenhouse Square.

The conference was sponsored by MeiraGTx, Editas Medicine, Spark Therapeutics, Sanofi Genzyme, Foundation Fighting Blindness, Allergan, ProQR, Two Blind Brothers, Applied Genetic Technology Corp. (AGTC) and Lions Clubs International. 

Family members and advocates from throughout the country and Mexico said they appreciated the depth and quality of information presented at the conference that included information from other rare disease groups, the Young Adult Sickle Cell Alliance and the Barth Syndrome Foundation, on how they approach patient advocacy and patient life.

Laura Manfre, co-founder of Sofia Sees Hope and president of its Board of Directors, said the nonprofit’s second conference ever was designed to bring information to patients and families as well as connect those patients to researchers and industry.

“A huge part of our mission is to make sure that members of the rare disease community do not feel alone,” Manfre said. “And not only do we hear from patients all the time that they want to connect with other patients, but we hear from researchers and pharma that they not only want to talk to patients, but they need to do so, because it gives them context and perspective on their work. Our LCA Family Conference accomplished that 10-fold this year.”

Three generations of at least two families attended, with one family connecting directly with Spark for possible treatment of their 4-year-old daughter/granddaughter, Jordynn, who has LCA-RPE65, also known as LCA2. 

A family at the 2019 LCA Family Conference

Jordynn’s mom, Joy Goodwine of upstate New York, said it was great to meet families with kids who have gone through the same experiences. 

“Learning about the treatment and getting the education about all of it really gave me something to think about as my daughter’s journey continues as she lives with this visual impairment,” she said. “Knowing that my daughter can thrive and live a happy life with some occasional bumps in the road was a wonderful feeling.”

LCA research progress

Ben Yerxa, Ph.D., CEO of Foundation Fighting Blindness, told the group that awareness in genetics helped increase the number of people enrolled in My Retina Tracker®, a free and secure online registry with a goal to drive research toward prevention, treatments and cures for people living with a spectrum of inherited retinal degenerative diseases, including LCA.

Ben Yerxa presenting at the 2019 LCA Family Conference

“I call it the LUXTURNA effect. It went up like a hockey stick,” he said of the more than 23,000 people now in the registry.

Dr. Yerxa reviewed LCA research progress, detailing 18 forms of the disease and highlighting study stages, including a current recruiting request by Editas Medicine and Allergan for patients for Phase 2 research on LCA-CEP290 (LCA10), and citing more than 35 select trials traveling through the clinical trial pipeline.

“We know it takes a village,” he said. “There are tons of people involved in these programs.”

In a session titled “Your Voice Matters,” patient advocates urged people to tell their stories. Terri Booker, Co-Founder of the Young Adult Sickle Cell Alliance, said she talks about her disease every chance she gets. She founded the youth alliance to empower young patients with advocacy tools to help them live longer.

Also included in the panel were Jamie Ring, Head of Patient Advocacy for Spark, Jill Dolgin, Head of Patient Advocacy for AGTC, and Emily Milligan, Executive Director of the Barth Syndrome Foundation.

Brian Mansfield, Ph.D., Executive Vice President of Research and interim Chief Scientific Officer at the Foundation Fighting Blindness, moderated a panel called “One Disease, Many Approaches.”

Attacking LCA on many fronts

The audience heard from Dr. Bennett about injection treatment, from Pam Stetkiewicz, Vice President of Program Management for Editas Medicine, about gene-editing treatment, and from Dr. Tomas Aleman on ways to measure the impact of therapies. Dr. Aleman is Director of the Center for Hereditary Retinal Degeneration at Perelman Center for Advanced Medicine and Director of Retinal Degeneration Service at the Center for Advanced Retinal Ocular Therapeutics (CAROT). 

A panel from the 2019 LCA Family Conference

Also, Michael Schwartz, Global Project Leader for Sepofarsen at ProQR, spoke about repairing the underlying defect in a nucleic acid and the potential to stop progression or reverse some effects of LCA10 or CEP-290.

Ben Shaberman, Senior Director of Scientific Outreach and Community Engagement at Foundation Fighting Blindness, moderated a third session: “All About Clinical Trials.” Dr. Wiley Chambers, the FDA’s Supervisory Medical Officer in the Office of New Drugs, cautioned those gathered about bogus trials, encouraging them to make sure their trial of interest received an FDA Investigational New Drug (IND) application number.

Dr. Michel Michaelides, Head of Clinical Ophthalmology at MeiraGTx, described other relevant treatments, such as optogenetics, a technique that uses light to control cells in living tissue, and retinal implant technology.

Tami Morehouse, who received the genetic therapy treatment for RPE65 during its trials, and her husband, Michael, rounded out the panel.

“She was on a pathway to darkness and she knew it,” Michael said. “It’s a huge life-changing event for us.”

Tami and Michael

Tami became a global pioneer in the LCA world by being the oldest person at age 44 to receive the treatment during its clinical trials.

“In all honesty, I never thought that I’d ever have a shot at seeing,” she said. “I got way more than I anticipated.”

When Self-Advocacy Creates Change That Benefits Everyone

Kristen Steele is a trailblazer.

The 21-year-old paved a smoother road for those without vision by changing massage-therapy exam protocol, writing policies and procedures, and proving herself as a competent, independent contractor who makes house calls to the elderly and the ill in rural Nebraska.

Kristen, who lives in Council Bluffs, Iowa, near the Nebraska line, forges through life with passionate determination. She finds the support she needs to be her best and passes her knowledge along so others can be their best.

Kristen holding up her certificate next to a mantle
Kristen Steele proudly shows off her massage therapy certificate.

She has helped those without vision to pursue massage therapy careers, including Connecticut resident Danielle Senick. They connected through a Facebook page for people with Leber congenital amaurosis (LCA) and soon will connect in person at the second LCA Family Conference presented by Hope in Focus (formally Sofia Sees Hope) in Philadelphia this weekend, Friday, July 26, to Sunday, July 28.

Kristen, Danielle and those living with LCA or other rare inherited retinal diseases (IRDs) will gather at the conference, which offers myriad opportunities to engage in thoughtful and interactive exchanges of knowledge, ideas and viewpoints on research, future treatments, advocacy, and people sharing their stories.

Diagnosis: LCA10

Doctors diagnosed Kristen with LCA as an infant, although her clinical diagnosis of LCA-CEP290, also known as LCA10, came years later in middle school.

She began reading Braille at age 3, and since first grade, has used a BrailleNote, a mini tablet-sized personal digital assistant with input through a Braille keyboard. 

Struggling in school and having trouble with teachers adapting to a blind student, Kristen’s mother quit her job in the accounts receivable department at a medical supply company.

Her mom would pull up her assignments on the computer and tell her what she was missing and what she needed to go forward with the work.

“I had straight As but it was hard to find someone competent enough and willing to adapt,” Kristen said. “My mom, still to this day, is in LCA groups with parents of blind children. She still tries to help out other families and reconnect and advocate.”

A friend of her pharmacist-dad helped her with geometry and algebra by making 3-D shapes with rubber bands, detail that enabled her to visualize and understand the problems.

“That worked. It was just the extra time and energy,” Kristen said. “I didn’t let anything stop me. Sometimes I’d be up ’til midnight doing papers. I spent countless hours. I had to do it because I couldn’t let myself fall behind because of someone’s ill-preparedness.”

Kristen graduated ahead of her class in December 2014, with plans to become a high school English teacher. That changed during a semester at the University of Nebraska at Omaha, where a public-speaking assignment to interview a person in her chosen field led to a blind English teacher in Indiana. 

“She did a really great interview, but she told me to think twice about it.”

Working from 6 a.m. to midnight, it took double time to grade papers. The teacher, then 48 and named Teacher of the Year, said she’d never married or had children because her job took over her life.

“She also mentioned she has a lot of students texting in class, throwing spitballs. They threw a backpack at the window, broke the window, and they were laughing, thinking they played a cool prank on her.”

Choosing her path and fighting her fight

Kristen decided her passions aligned more with the medical field, given her parents’ work, and her interest in the healing arts. Also, her grandmother, who had dementia, had recently died, and she thought more about geriatrics and helping the elderly.

She reached out to a blind friend who is a licensed massage therapist and researched massage therapy schools, finding and rejecting one because of the difficulty in accessing its curricula. She ultimately enrolled at Midwest School of Massage near Omaha. The school turned out to be a perfect fit, pairing Kristen with an instructor named Les Lundberg, who had a background in exercise physiology and physical therapy. 

“He cared. He wanted to put in the extra time to make sure I had a quality experience.”

Using a skeleton as tall as Kristen, her teacher went over each of the body systems and muscles, reviewing each individually on the skeleton, on herself and then on the instructor to make sure she understood the techniques.

“It was a really nice blend of anatomy and physiology.”

After completing the 1,000-hour course in February 2017 on anatomy, physiology and pathology, plus 200 practice massages, with a 4.0 grade point average, she studied for the Massage and Bodywork Licensing Examination, known as the MBLEx.

Before taking the exam, Kristen took on the Federation of State Massage Therapy Boards because it would not administer the test in Braille. She would have to take the four-hour test with a hundred multiple-choice questions using a human reader, a volunteer likely unfamiliar with medical terms. 

“The exam cost $195 and I didn’t want to pay the price more than once and I didn’t want to fail.”

Through the National Federation for the Blind, Kristen found a blind lawyer in Iowa and they sued the Federation of State Massage Therapy Boards. 

Eight months later, they reached a settlement agreement, making Kristen the first to advocate for and pass the MBLEx in Braille. 

“I took the exam and passed on the first try, but I was debating over this whole time, was it worth it? I could have been licensed and working.”

In the end, she knew it was worth it.

“I wanted to create this advocacy for anyone else pursuing massage therapy and let the boards know it should be in Braille.” 

Kristen now works with others, including Danielle, who was diagnosed with LCA-CRB1, also known as LCA8, and who is finishing massage therapy school and getting ready for the MBLEx.

First steps down a career path

Massage therapists often work as independent contractors and Kristen’s first contracted job led her to a brand-new company.

“They were accepting and very welcoming at first,” she said. 

She honed her massage therapy technique on a hospice patient with dementia. The patient essentially was non-verbal, meaning Kristen learned the woman’s massage therapy needs from her client’s physical responses. The woman also could not hear well and indicated her soreness by holding out her arthritic hands and feet.

“If they can’t form words, I need to pay attention to what they are doing and how they’re reacting.”

Her next client did not have dementia and could tell Kristen where she had pain on her shoulders and back from bedrest.

“She helped me with the verbal side of crafting my technique.”

Kristen also wrote the company’s new policies and procedures for its massage therapy program. 

Her employer, while pleased with her job performance, tried to have her sign a written contract that she couldn’t read because it wasn’t in Braille. Her mother came with her to read the new contract, but the company initially did not produce it.

“They finally spilled it. ‘We need to lower your rates.’ ”

She brought the case to the Nebraska Department of Labor and told officials she never looked over the contract because she can’t see.

“That went south quick. We won.”

She applied for a job at another company.

“The interview went OK. They just didn’t believe in me, that I would be able to find transportation, find the patients. They didn’t have the confidence that the blind could do it.”

She took a job at a physical therapy clinic in Council Bluffs but left because of few hours and low pay.

Kristen also began accumulating Continuing Education Unit (CEU) hours to help her stand out as a job candidate in a field of sighted massage therapists.

She lighted on a program called “Comfort Touch: Massage for the Elderly and the Ill.”

Comfort Touch™ instructor and licensed massage therapist Mary Kathleen Rose never had a Braille reader, so her course materials were not available to read by Braille.  

Kristen ordered a print copy through Bookshare.org, an online library for people with visual disabilities. Bookshare scanned the book on a Monday and uploaded it by Friday, and she began the class. 

“I was the first one to put these materials into Braille that are sold on Amazon and everywhere throughout the country. … That was the first ever CEU class that I took, and it was really cool because Mary Rose did a video of me reading in Braille the Comfort Touch™ textbook. I had adapted these course materials and paved the way, and for my turn (on the video) she wanted me to read ‘Adapting to Change,’” which deals with loss, aging and change. 

In a 2017 North America/Caribbean Region Onkyo Braille Essay Contest, in which Kristen placed second, she detailed her advocacy for Braille in a piece called “Shining Through Darkness.” She recalled in the essay her Comfort Touch™ teacher saying after hearing her read: “Your reading . . . it’s just like everyone else.”

She also wrote in the essay: “Remaining literate despite being blind is not difficult; consistent practice can equal or surpass the fluency of print readers with eloquence and grace.” 

Expanding her personal and professional horizons

Kristen also earned certificates in hot-and-cold stone therapy, aromatherapy, Reflexology, advanced dementia processes, and she is a licensed massage therapist in Iowa and Nebraska.

She familiarized herself with Aira and Seeing IA, visual interpreter services. She sent her resumé to Aira and worked with a trained professional who formatted and polished her draft into what Kristen called the perfect resumé.

“It placed my disability on the back burner, and it gave me the upper hand when you have sighted massage therapists and they’re interviewing without any of these advanced certificates.” 

Between her resumé and an initial phone interview, Kristen felt she would be judged equally as a sighted person before showing up for an in-person interview.

After seeing a familiar job posting in May 2018, she sent her resumé to the company where representatives a year earlier did not believe she could do the job. She received a call back in an hour and did a phone interview.

During her in-person interview, Kristen demonstrated Aira – using a phone and wearing glasses connected via Bluetooth to a hotspot – and called an agent, displaying her ability to navigate a client in-take process and get around the office. Or, as she said, “I took Aira for a spin. I walked around the office, read people’s name tags, saw suite numbers.”

The company hired her the next day and she’s currently thriving there as a massage therapist specializing in geriatric care.

As an independent contractor, Kristen travels to clients and returns using a door-to-door shuttle service. Initially her mom helped, then she used Lyft and Uber, but that became expensive, prompting her to develop her own transportation service, which she jokingly calls Kristen’s Transportation Fleet. She contracts with drivers who get her to clients based on a negotiated fee. 

So, what does this 22-year-old do when she’s not busy working and enhancing her skills? 

She loves working and playing with her beautiful guide dog, a golden retriever named Corvette.

She loves to shop at a gigantic mall billed as the largest shopping area in Iowa.

“I like reading. I’d like to write a non-fiction book, kind of a memoir someday about my life and my work with comfort care.”

And she drives.

“I like to drive. My mom sits in the passenger’s seat. We go on the back roads. It’s so freeing.”

As Kristen said, quoting Helen Keller in her reading for the “Adapting to Change” video: 

“What we have once enjoyed, we can never lose. All we love deeply becomes a part of us.”

LCA Families Finding Strength with Each Other

Heather Le’s anxiety accompanying her daughter’s diagnosis of Leber congenital amaurosis melted into relief when she connected with a mom whose daughter was also born with LCA. And this mom – Christina Reichardt – came with the bonus of being Doctor Mom. Christina Reichardt, the mother of LCA patient Ashlyn, is a doctor of optometry in Tucson, Ariz.

The two connected when Heather, of San Diego, Calif., learned from Christina that her daughter underwent a procedure at Children’s Hospital of Los Angeles (CHLA) to correct an LCA gene mutation. Heather’s daughter, Monroe, and Christina’s daughter, Ashlyn, have LCA with a mutation in their RPE65 gene.

Dr. Aaron Nigel administered the ground-breaking genetic therapy called LUXTURNA™ to Ashlyn last May and June when she was 10 years old. Two months later, 6-year-old Monroe had the same surgery, in which a human-engineered virus containing a healthy version of the gene is injected under each retina, a week apart.

Dr. Nigel asked Christina if she would connect with other families living with LCA-RPE65, a request she considered an honor.

“It’s has been the biggest blessing to connect,” Christina said. “I truly consider these moms as friends and know we will always have the special LUXTURNA connection.”

She said she talks to at least one RPE65 mom a week: “It’s a highlight, sharing experiences and stories and life. Checking in the days of surgery and the days thereafter.

“It’s good for both of us,” she said. “We need to heal, too, as parents.”

Group of doctors with Christina and her family

Driving home from Ashlyn’s surgery, Christina talked with Heather, who was thrilled to get answers from the “mommy and doctor side.”

“She walked me through everything. I don’t know what I would do without that woman,” Heather said. “I mean she has been absolutely amazing. Since I had Christina to reach out to, I was more at ease because she was there for me to ask any mother questions I had.”

Christina enjoyed sharing her experiences.

“We still keep up with one another. We share videos and photos. I shared pre-op and post-op experiences, how Ashlyn felt, medicine talk of how she felt and the best way I found to get her drops and ointment in her eyes.”

Heather and Christina are among the many people who have connected and helped each other in their journeys with LCA or other inherited retinal diseases (IRDs). Sharing stories, LCA families shed feelings of isolation that often accompany diagnoses of rare diseases, and they become part of an understanding and resourceful community.

Hope in Focus (formally Sofia Sees Hope) encourages and helps make these kinds of connections through its Family Connections program, its  Facebook page and events, including its upcoming second LCA Family Conference in Philadelphia from July 26-28.

Genetic diagnosis is key

To get a clinical diagnosis, Christina and Heather knew they would have to have their daughters genetically tested.

Even though Heather felt scared, she knew she needed that diagnosis to get more answers. Shortly after Monroe turned 4, she received her RPE65 genetic diagnosis. (See Monroe’s Jan. 1, 2019, story on our website.)

Christina knew three hours after giving birth that something was not quite right with her daughter. Ashlyn was misdiagnosed with night blindness and, being a mom with a medical specialty in vision, she knew she had to start figuring out exactly what was affecting her daughter’s vision.

“I insisted on genetic testing.* She was tested genetically prior to this for other things. Since she was an infant, I said, ‘let’s just genetically test for everything.’ In my heart I felt there’s something more. If we don’t have a diagnosis that’s correct, we won’t have the information to help her.”

Christina, who practices optometry with her dad, said she had heard of LCA, but didn’t know much about it.

“This journey with Ashlyn has made me a better doctor.”

Ashlyn with pink glasses holding her doll with pink glasses

She felt happy to have a diagnosis, shocked because it’s not a common disease and upbeat, saying: “Hey, this is something we can do something about. This is it; this is what we’re going to do. We never looked back.”

The RPE65 diagnosis marked the first of many firsts.

“A feeling of peace and fear, but with that fear a calmness, once I was able to connect to others in the same situation,” Christina said. “Diagnosis was huge. Ashlyn was diagnosed much older than many.

“I believe many kids are still not diagnosed. Getting the word out is going to be very important. That (genetic) test is what we all should consider … It was incredible timing because it was like, boom, we got the diagnosis in May of 2017, LUXTURNA was approved in December and she had her surgery in May 2018. The whole thing went from not moving at all to warp speed.”

Moms helping moms

Along the road to surgery, Christina received answers to her many questions from Beth Guardino of Patchogue, New York, mother of Christian, who underwent the same surgery during LUXTURNA’s 2013 clinical trials. (See Christian’s March 25, 2018, story on our website.)*

“I reached out to her,” Christina said after finding Beth’s story on Facebook. “She was to me who I was to Heather. I had a bazillion questions, so we were on the phone all the time. It’s so awesome … I just feel that all parents need that connection. It’s a scary thing to go through. There’s a lot of unknowns, and getting it from another mom is invaluable, the mom questions.

“From Beth talking to us before Ashlyn received LUXTURNA, to my conversations with several moms as their kids embarked on the same journey – it has been comforting to talk to another mom who has ‘been there, done that,’ to hear her son’s perspective, how she as a mom dealt, how much time and medicine was needed and just to talk about fear and feelings. She was a true blessing and made me more confident walking into such a big unknown.”

Four days after surgery, Christina’s family took a paddle boat ride. Ashlyn looked up at the sky and said, “Mom, what’s that?”

“It’s the sky, honey. That’s a cloud.”

“That’s a cloud?”

“Before she had no visual acuity to see fish or color in the tank,” Christina said. “She ran over to the tank. ‘I see the fish; I see a yellow fish and a pink fish.’ Things like that, that you don’t think about are huge for her.

“She didn’t realize that the toilet (water) swirls when you flush it. ‘Whoa. I thought it just made noise. It’s a swirl,’ her daughter realized.

“Now she walks so easily and runs. Now everything’s novel and exciting.”

Diagnosis to Treatment: Pioneering LCA Patient Eases the Journey

As a global advocacy organization dedicated to helping those affected by blindness caused by rare inherited retinal disease, Hope in Focus (formally Sofia Sees Hope) connects families with Leber congenital amaurosis (LCA) and other IRDs through its Family Connections program and through events such as its second LCA Family Conference set for July 26-28 in Philadelphia.

The conference offers opportunities to engage in thoughtful and interactive exchanges of knowledge, ideas and viewpoints in sessions focusing on research, future treatments, advocacy and people sharing their stories.

Tami Morehouse, third from left, during a panel at the 2018 LCA Family Conference in Groton, CT.

Pioneering LCA patient Tami Morehouse attended the patient advocacy session of the first LCA Family Conference last October in Groton, CT, and participated as a panelist in a session titled: “The Road to Treatment: Understanding How Therapies Are Developed.”

She made research history in the LCA world and in the nation in 2009, when at age 44 during trials for genetic therapy medication, doctors injected under her retinas a human-engineered virus that restored an essential protein for vision. Spark Therapeutics developed the drug that was marketed as LUXTURNA™ following U.S. Food & Drug Administration approval in December 2017.

Tami lives in the Cleveland area and is among the LCA patients who have shared their stories to help others navigate the obstacles that accompany the diagnosis of a rare disease and the journey in finding a treatment.

We’ll share the words she shared with two families – the mom of a boy who received the new genetic therapy treatment, and a mom, and her little boy, who asked a lot of questions about the surgery.

Making Family Connections

Tami holds a special place in the heart Sarah St. Pierre Schroeder, whose then-9-year-old son, Creed, became the youngest person to receive the new genetic therapy for LCA with a mutation in his RPE65 gene. (See our series of stories about Creed, his spring 2018 surgery and his journey.)

Because Tami is the oldest person who successfully received the experimental treatment in both eyes in a clinical drug trial a decade ago, she possesses invaluable insight into the unknowns faced by Sarah and her third grader, who live in Mount Dora, Fla.  

Sarah said she is forever grateful for Tami talking with her.

“I will never forget the emotions I felt when Tami reached out to me. Every sentence in her email brought me more comfort about what I was doing for Creed,” Sarah said.

“She was so open about her journey, I felt like we had known each other forever. I felt like she was with us in Miami (where Creed underwent surgery at Bascom Palmer Eye Institute).

“Suddenly I was able to ask someone all the questions I had and get answers. Not just ‘maybe this will happen.’ ”  

Here’s some of what Tami shared with us about talking with Sarah:

I’ve had some great conversations with those who have either been involved in the process of treatment of LCA or are hopeful they might be involved in a clinical trial in the future. I’m sure you aren’t surprised when I say that emotions usually run pretty high during these conversations.

Sarah was the first parent I talked with. I kept thinking about her and Creed in the days prior to Creed’s procedure. 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.

Sarah and I had lots of communication that night and the day of his procedure, which seemed like it would never get here, and in the days following.

Hearing about the improvements in Creed’s vision and how it has changed his life has been so much fun. Thinking about it is still a bit overwhelming sometimes, but wonderful. I’m so glad for him.

It’s nice to check in with Sarah from time to time to talk about the progress and adjustments they are making. I hope they enjoy our interactions as much as I do.

Here is some of what Tami had to share after talking with a mom considering gene therapy for her son. (Tami spoke to the woman and her son as a confidant and did not want to disclose their names.)

The mom asked that I talk with her little one specifically about what the procedure was like. She wanted him to talk with someone who had actually gone through it. We had a great conversation.

I talked to him about things like, the fact that my surgery wasn’t painful for me but did feel a little funny afterward; that I did have to have lots of eye drops; that my surgery didn’t even take very long; that the doctors and nurses were really nice; that my family could be with me after the surgery when I needed them; and that I was pretty comfortable through the whole thing.

I told him that the best part is that I can see a little better than I could before I had the surgery.

At the beginning of the conversation, the little guy seemed pretty quiet and uncomfortable. As the conversation went on, he appeared more relaxed and seemed to be listening pretty intently. His first question was, “WOW, you mean you had surgery already? WOW!”

He also asked if I thought he would be able to get used to all the eye drops and if it would be a long time before he could play video games after his surgery. I told him that I wasn’t sure of how long he would have to wait to play games, but that if he was patient, his reward might be some really good pizza and chocolate chip cookies, which is what I got to eat after my surgery was over. I got a big giggle out of him then. He said that he is pretty happy that he might get the surgery.

If one thing I said to this child makes his surgery easier for him, I’ll be so happy. I just hope it happens for him as they anticipate.

Mom and I talked about the reasons why she feels good about the safety of the (clinical) trial. That’s always a huge issue with just about everyone that I’ve talked to prior to receiving treatment or participating in any trial. Safety always comes first. Understanding why a procedure is determined to be safe is very important.

We also talked about the importance of being aware of what kinds of results treatment might provide for her son, as well as what she and her son are expecting or hoping for from a particular treatment. There were a couple of participants in the trial with me that seemed to have really high expectations that just weren’t possible. Luckily, it seems like this little guy and his mom are in a good place when it comes to their expectations.

Anytime I talk with people seeking any treatment for any rare inherited retinal disease, I strongly encourage them to do their best to understand as much as possible about the procedure, care and services that they are considering or receiving. This can be made easier by reading everything available about the treatment they are pursuing. Unfortunately, sometimes reading and understanding some of this printed information are two different things.

The more that is known about the treatment ahead of time, the easier it is to understand what is going on when making decisions prior to and during treatment.

Asking questions and expressing any concerns that come up is also very important when making decisions about accepting or going through treatment. Taking any available opportunity to develop relationships and open lines of communication with any medical and/or clinical staff is very important. Doing this can make it much easier for patients, as well as physicians, to openly ask questions and express concerns. This can make all the difference in the world when it comes to getting the answers and information needed.

Another thing to consider for individuals who do receive treatment and experience restored vision, is how improved vision may affect their lives.

For some, this is a wonderful thing. For others, this can be a bit of a challenge.

Thank you, Tami.

The Patient Voice: A Critical Piece of the Rare Disease Advocacy Puzzle

Two people deeply involved in patient advocacy and public policy recently urged members of the rare disease community to use their personal experiences as a means of advocating for research and treatment of rare disease.

Lesley Bennet presenting on a podium
Lesley Bennett, Connecticut’s Rare Action Network volunteer state ambassador

Kristen Angell, Associate Director of Advocacy for the National Organization for Rare Disorders (NORD)  and Tim Boyd, NORD’s Director of State Public Policy, urged rare disease patients and their families to use their voices to let people know about their conditions at a recent rare disease advocacy workshop held in conjunction with the Connecticut Rare Action Network (RAN).

The importance of the patient voice is also a key focus of Hope in Focus (formally Sofia Sees Hope)‘s upcoming LCA Family Conference, July 26-28 in Philadelphia. Panels and speakers at the conference will deal with how an active patient community can support and accelerate treatment, among many other topics. 

Much like Sofia Sees Hope encourages people living with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs) to tell their stories, Angell and Boyd told an audience of about 20 rare disease patients, caregivers and advocates that sharing their stories will help alleviate feelings of isolation and educate policy makers to work on their behalf by getting care-giving help, fostering research and finding new treatments.

Boyd and Angell helped workshop participants frame and rehearse the stories they would tell legislators to get their attention. People need to say who they are and where they live. They need to tell them about their connections to the rare disease community and ask for their support of legislation, such as the Orphan Drug Act of 1983 (ODA), and their help with caregiving, financial relief or other needs.

“Legislators do, in fact, want to help the people they serve, and they cannot do that without hearing from you,” Boyd said.

Lesley Bennett, Connecticut’s RAN volunteer state ambassador, urged the audience to be part of legislative committees to get the word out about the needs of the rare disease population. NORD established RAN to unite, develop and mobilize grassroots advocacy in all 50 states on state and federal policy. 

About one in 10 people have a rare disease. In Connecticut that means about 300,000; in the United States that’s about 25 million to 30 million people.

Angell said patients, caregivers and patient organization leaders created the ODA to unite the voices of rare disease patients, caregivers and advocates.

Since ODA’s passage, the Food and Drug Administration approved more than 450 orphan therapies, compared with 10 therapies approved in the decade before the 1983 legislation. A grant program within the ODA has funded $15 million in grants annually, which included, among other projects, 700 studies. The program also contributed to more than 60 drugs on the market.

Rare Disease Advocacy: ‘Everything’s connected to everything’

Long before Grey’s Anatomy captured television audiences, the 1980s medical drama, Quincy, M.E., helped propel passage of Congressional legislation that fostered the development of more drugs for rare diseases.

In a 1981 episode, the show’s tenacious medical examiner played by Jack Klugman addressed rare disease challenges faced by a patient with Tourette Syndrome, a disorder causing tics such as repetitive movements or unwanted sounds. A 1982 episode focused on myoclonus, a symptom of a rare movement disorder. It was no accident, since Klugman’s brother, the show’s associate producer, suffered from a rare cancer.

That 1982 show, described as the most politically significant episode of the seven-year series, portrays the actor’s quest for passage of federal legislation. Klugman’s real-life testimony gave momentum to that already gathered from powerful politicians and the public’s support to pass what ultimately became the Orphan Drug Act (ODA) of 1983.

Thirty-six years later, the ODA is in danger of losing critical incentives that help drug developers target orphan therapies, and that is why the National Organization for Rare Disorders (NORD) and its Rare Action Network (RAN) hosted an Advocacy Workshop in May at the Goodwin Hotel in Hartford, Conn.

Most rare diseases have no treatment

Orphan drugs are medications intended for the safe and effective treatment, diagnosis or prevention of rare diseases/disorders that affect fewer than 200,000 people in the United States, or that affect more than 200,000 people but are not expected to recover the costs of developing and marketing a treatment drug, according to the Food and Drug Administration.

The hurdles of conquering rare disease are high: 90 percent of the approximately 7,000 rare diseases don’t have an FDA-approved treatment. Getting a diagnosis takes an average of five to seven years, and patients face extensive, lifelong medical needs, high costs for care, and social isolation.

Until a few years ago, the ODA allowed a 50 percent tax credit to rare disease researchers; that tax credit now is 25 percent and in danger of being further reduced.

Lesley Bennett on podium sharing a presentation
Lesley Bennett, Connecticut’s Rare Action Network volunteer state ambassador

U.S. Sen. Richard Blumenthal and aides for U.S. Reps. Jahana Hayes, Rosa DeLauro, Joe Courtney and John B. Larson joined more than 20 rare disease patients, caregivers and advocates at the workshop, offering their support to the rare disease community.

Blumenthal talked about the importance of research into rare diseases, saying when it comes to finding treatments, “everything’s connected to everything.”

“It opens new perspectives and avenues for research for other diseases,” the senator said.

‘Healthcare is a right’

A representative of Hope in Focus (formally Sofia Sees Hope) told the Congressman that the organization’s founder in 2017 testified at a federal FDA hearing as to the critical need for bringing to market LUXTURNA™, developed by Spark Therapeutics. It was ultimately FDA approved as a gene therapy that targets one of the more than 25 gene mutations in the rare disease of Leber congenital amaurosis (LCA) and is also the first genetic therapy in the United States for any inherited disease.

Sofia Sees Hope asked Blumenthal for his support for rare-disease research funding and development and for his continued protection of the ODA and its endangered incentives.

He told the audience that bringing down the costs of prescription drugs and making healthcare universal rank high among his political passions.

U.S. Sen. Richard Blumenthal of Connecticut

“Healthcare should be regarded as a right,” said Blumenthal, who supports and co-sponsors legislation addressing Medicare for all.

He praised the audience members and thanked them for being there.

“I’m proud to be here today,” he said. “I’m grateful for your advocacy.”

On behalf of Congressman Courtney, who represents the eastern half of Connecticut, Karen Weseliza said she would bring the concerns of NORD, Sofia Sees Hope, patients, caregivers and advocates back to her boss.  

“A lot of what we hear goes directly to him,” she said.

‘Emotionally draining’ road to diagnosis

Rare disease patients and caregivers told their stories about living with an array of rare diseases with mainly unfamiliar names, such as Hereditary Angioedema that causes recurrent severe swelling; Sporadic Inclusion Body Myositis, a muscle-wasting disease; Stage III Melanoma successfully treated 11 years ago; Scoliosis or severe curvature of the spine; and Wolfram Syndrome, which causes diabetes and optic atrophy.  

Maria, Carmen, and Lisa smiling and standing together
Maria Carter, Carmen Wooster and Lisa Perrone

The Rev. Carmen Wooster of Hartford detailed her exhaustive eight-year journey to find a diagnosis for her daughter.

“It’s very emotionally draining. Eight years of misdiagnoses, eight different things, eight different drug and treatment modalities.”

She is the sole caregiver for her 39-year-old daughter, Maria Carter, who was diagnosed just last month with Stiff Person Syndrome (SPS), a rare syndrome affecting the brain and the spinal cord. Maria experiences tremors and muscle spasms that can be set off by the slightest noise.

According to the National Institutes of Health, people with SPS often have a heightened sensitivity to noise, sudden movements and emotional distress that can set off muscle spasms generating enough force to fracture a bone.

“The hard part of this is being young with this disease,” Carmen said. “It’s progressive.”

She tries to keep emotionally balanced and empathetic in the face of no current treatment or cure.

“I think we learn some life lessons. Life and death lessons.”

Under state Medicaid, she said her daughter is subject to random appointment cancellations, inaccessibility to top doctors and unkind treatment.

“When doctors don’t have an answer, they have a tendency to beat you up,” she said.

Mother and daughter witnessed advocacy in action when a Congressional aide yelled over to her, “We’re going to talk!”

Lisa Perrone, senior district aide to Congressman Larson, said, “This is what we do. I’m going to be reaching out on her behalf because that’s my job.”

The aide later talked with the woman, took her personal information and told her she would be connecting with the Department of Social Services and any other appropriate agency and get back with her.

Carmen said she could not get through these trying times without the healing and calming effects of meditation.

“Keep the faith,” she said. “It’s a day-by-day journey. Try not to think of the future too much because that will trip you up; mentally it will bog you down.

“You have to have hope to go through this and celebrate any breakthrough.”

CT Rare Action Network Advocacy Workshop May 3

Learn more about rare disease patient advocacy and connect with the National Organization for Rare Disorders (NORD) about current legislative action on Friday, May 3, at the Connecticut Rare Action Network (RAN) Advocacy Workshop.

The event runs from 8:30 a.m. to 3 p.m. at The Goodwin Hotel, One Haynes St., Hartford, CT. It is hosted at no cost to participants; breakfast and lunch will be provided.

The workshop features an opportunity to speak directly with members of Congress from Connecticut about the Orphan Drug Act (ODA) of 1983. Orphan drugs are medications intended for the safe and effective treatment, diagnosis or prevention of rare diseases/disorders that affect fewer than 200,000 people in the United States, or that affect more than 200,000 people but are not expected to recover the costs of development and marketing a treatment drug, according to the Food and Drug Administration.

Online registration closes at noon, Tuesday, April 30.

Register Here

The ODA encouraged increased development of drugs for rare diseases. More than 450 orphan therapies have been developed by private industry since its enactment, compared with 10 therapies, 10 years before the 1983 legislation. Thirty years later, in 2013, orphan therapies comprised one-third of all drugs approved by the FDA, according to NORD.

NORD founders helped spearhead the Orphan Drug Tax Credit, characterized as one of the most important incentives for orphan drug development, and enacted as part of the ODA. The provision allows a 25 percent tax credit for sponsors on certain research and development costs for orphan drugs. NORD said that coupled with other incentives in the ODA, the tax credit has proven its efficacy, and it is in danger of repeal.

For information on RAN events nationally, check your state RAN and sign up to receive notice of upcoming activities.

Upcoming NORD/RAN events include:

If you have any questions, please contact NORD’s Associate Director of Advocacy Kristen Angell at 203-304-7251 or kangell@rarediseases.org

A Rare Opportunity: A Glimpse Into Life with Visual Impairment

“Look like you can see!” Dante Priebe implores to his panicked, visually impaired sister Sofia as she struggles behind the wheel to make a three-point turn in her driveway.

“I do this horrible, 18-point turn and a cop car drives by in those three minutes,” Sofia says.

She ends up in the street and Dante yells at her to pull into the neighbor’s driveway and “act like she can see.”  

The car ends up on their lawn, with Sofia shouting at her brother, “I don’t want to do this anymore!!!”

The audience laughed, and so did Sofia, as she recounted her story during a discussion at “A Rare Opportunity,”  a gathering of more than 100 people to hear stories from people with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs).

Sofia is the daughter of Laura Manfre and Chuck Priebe, co-founders of Hope in Focus (formally Sofia Sees Hope), dedicated to helping people affected by LCA and other IRDs. Sofia’s parents founded the organization after her 2013 genetic diagnosis, giving hope that genetic research could produce sight-saving treatment.

Awareness is appreciated

The March 30 event, A Rare Opportunity, at Lake of Isles, North Stonington, CT, featured Nicole Kear, author of “Now I See You,” (see accompanying story) detailing her reckoning as her world blurs due to Retinitis Pigmentosa (RP), a rare disease causing slow and progressive retinal degeneration.

Nicole, of Brooklyn, NY, joined a panel discussion with Sofia, Christian Guardino and Diana Owen for an exchange about what it’s like to live with visual impairment.

In the panel moderated by Nicole’s friend, author and professor Dr. Amy Bass, the participants said they wished people would be more aware of others with disabilities.

Nineteen-year-old Christian of Patchogue, NY, said he wishes he could take part in a common teenage rite of passage.

“I think one of the biggest things is I see all of my friends driving and getting their licenses, and it makes me want to do it even more.

“But I feel like I’m saving a lot of money.”

In 2017, Christian stepped onto the America’s Got Talent audition stage and blew away the judges with his rendition of the Jackson 5’s “Who’s Lovin’ You.”

He recently released his first original song, “Waiting,” executive produced by country singing star Hunter Hayes.

Christian lived with degenerative vision due to LCA2, known as LCA-RPE65, since he was a toddler, but all that changed when he underwent experimental surgery five years ago in a clinical trial for a revolutionary genetic treatment. His vision improved dramatically with the treatment called LUXTURNA™. Spark Therapeutics developed the drug that the Food and Drug Administration approved at the end of 2017.

Independence vs. asking for help

Diana Owen, Head of School at Pine Point School in Stonington, CT, was diagnosed in her 40s with a macular hole, a condition resulting in vision changes over time.

She lives with a constant, sometimes frustrating, sense of having to work around situations to accommodate her vision.

“When my issue developed what I didn’t understand was about acuity,” she said.

Her visual acuity manifested as darkened spots, haze and distortion.

A macular hole is a small break in the macula, in the center of the eye’s light-sensitive tissue called the retina. The macula provides the sharp, central vision needed for reading, driving and seeing fine detail. It can cause blurred and distorted central vision.

Nicole said she never wanted to use a cane: “When you open the cane, this is the cane and I’ve disappeared.”

Sofia is a high school sophomore who savors independence. She has LCA with a mutation of her IQCB1/NPHP5 gene, one of the more than 25 gene mutations known to cause the disease.

“I’m very stubborn,” she said. “I’d like to do things on my own. Being blind doesn’t mean full no-vision. (People) try to help me with things and, I’m like, I got it!”

And she does! In academics, dancing and rowing. Sofia’s a spokesperson for “Remote Coxswain” technology, invented by her rowing coach, so she can row solo. The tool features a remote-controlled rudder than can be operated by a coxswain up to 500 feet away.

Transitioning to dinner, the panel and the audience heard Christian’s new song fill the grand room. Listen for yourself.

Nicole Kear: When Losing Vision, Carpe Diem?

Nicole Kear faked it for a long time.

On a romantic getaway, as her boyfriend gazed at the starlit sky, she gazed at the vast darkness. Same with the twinkling lights at the tip of New York’s Staten Island.

“I was 19 years old when I discovered I couldn’t see stars.”

That’s when the actress and future author received her diagnosis of Retinitis Pigmentosa (RP), a rare, debilitating retinal disease. Her photo receptors were dying; no treatment, no cure.

Author of the memoir “Now I See You,” Kear told her story at “A Rare Opportunity” presented by Hope in Focus (formally Sofia Sees Hope), a global advocacy organization for the Leber congenital amaurosis (LCA) patient community and for those with other rare inherited retinal diseases (IRDs), such as RP.

Hearing she’d lose her vision by age 30 came as “absolute blindsiding news.”

Kear shared her story with more than 100 people gathered at Lake of Isles in North Stonington, CT, on March 30. Sofia Sees Hope Co-Founder Laura Manfre characterized the event – which also included a panel discussion – as “a chance to hear from incredible people who have faced head-on an almost unimaginable challenge and chosen hope over defeat.”

Kear felt incredulous at her diagnosis.

She’d always chalked up any stumbles in life to being accident prone, or “I thought I was some airhead who didn’t pay attention.”

She had plans: She was going to be a star of the stage, fall in love, get married, have children.

“Nowhere in these plans was room for losing my vision by 30.”

A River Called Denial

Upon her diagnosis, Kear did what a lot of people might not have expected: “I decided not to think about it.”

Plus, she thought, by the time she turned 30, “I would be ancient by then.”

She learned to drive, kind of. Kear didn’t need a car in New York, but when she temporarily moved to Los Angeles for acting, only three days passed before she realized she’d made a colossal mistake. She drove anyway, with her idiosyncratic driving posture, prompting her sister to tell her maybe she should lean back a little, an exchange recounted in her book:

“What are you talking about?” I snapped, concentrating on my left turn.

“You don’t notice how close your face is to the windshield?”

It was true. My nose was almost touching the glass, my chest nearly pressing the wheel …

“There’s no law about sitting too close to the windshield,” I shot back. “Just sit back and enjoy the ride.”

I couldn’t see my sister’s face, but I bet she looked like she was enjoying the ride about as much as a turn on the Tilt-A-Whirl with a stomach full of corn dogs …

My uncool driving notwithstanding, I did a decent job of getting from point A to point B without dying or killing anyone. In general.

Kear fared better in restaurants than on the road. She learned to order the Caesar salad because it’s usually on the menu she couldn’t see, and she’d ditto her dining partner’s choice for the main course.

She traveled to Paris and London. She enrolled in the San Francisco School of Circus Arts where she learned to be a contortionist and earned a red nose.

“Following every rainbow, climbing every mountain,” Kear told her audience, until she finally gave up the ruse.

‘Anything Is Possible’

“I had realized that my vision had an expiration date … I could carpe diem as much as I wanted, but I had to reckon with my vision loss.”

At 33, after falling in love, marrying and having two of her three children, she faced her diagnosis and reached out to New York’s services for the blind.

The gravity of support and resources empowered her, connecting her to visually impaired people around the world.

“I know now that anything is possible.”

Kear ended her presentation by reading one of the tips that accompany each chapter of her book.  

Tip #18: On glass doors. Walk into a glass door once, shame on the door. Walk into it twice, shame on you. Walk into it three times, get yourself a (*%&#*) game plan.

Connecticut Rare Disease Day at the Capitol

Sixth-grader Daniela Delgado told Connecticut lawmakers on Rare Disease Day that she lives with rare disease just like 30 million other people in the United States – and just like them – she matters.

“We are not a burden. We are human beings just like everybody else,” Daniela told about 130 people gathered at the Capitol in Hartford for Rare Disease Day. The day is celebrated nationally and globally on the last day of February each year. (Click here for state-by-state information.)

Daniela was diagnosed with not one, but two, rare diseases: von Willebrand Disease, a rare, lifelong bleeding disorder; and Ehlers Danlos Syndrome, a group of disorders affecting connective tissue supporting the skin, bones, blood vessels and many other organs and tissues.

She needs expensive drugs to treat her disease and ease her symptoms; without them, the cost would be exponentially more for hospitalizations.

“These are real treatments, and they keep us alive,” she said. “We need this medication to live.”

Daniela is a patient advocate from Sandy Hook, CT, who at age 4, with the help of her parents, created Daniela’s Little Wish, bringing joy to kids facing serious illnesses by baking and delivering one-of-a-kind birthday cakes.

She joined about two dozen speakers at a legislative informational session that included legislators, patients, doctors, researchers, nurses, caregivers, advocates, business people and a representative of Sofia Sees Hope.

7,000 Rare Diseases in the US

Rare disease is more common than most people realize.

Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs) are among the approximately 7,000 rare diseases. These include more than 500 types of rare cancers and all pediatric cancers.

A rare disease is defined as any disease, disorder, illness or condition affecting fewer than 200,000 people in the United States. An estimated 25-30 million Americans, almost 1 in 10, have rare diseases. In Connecticut, an estimated 300,000 people have rare diseases.

Connecticut may be the Insurance Capital of the World, but the Nutmeg State gets an F when it comes to individual insurance protections, according to Connecticut’s rare disease report card prepared by the National Organization for Rare Disorders and NORD’s Rare Action Network (RAN), the hosts of Connecticut’s Rare Disease Day.

The state requires some insurers to offer guaranteed plans to a limited number of people. It does not have an individual mandate and has not enacted a reinsurance waiver to keep insurance affordable for people with pre-existing conditions. Connecticut had minimal limits on issuing short-term, limited-duration health plans or association health plans.

Father Nikolas Karloutsos at the podium
Father Nikolas Karloutsos

State Rep. Joe Aresimowicz, Democratic House Speaker, and State Sen. Len Fasano, Republican Senate Minority Leader, have introduced several pieces of legislation addressing medical education in screening for rare cancers and assistance for patients and families with developmental disabilities. Fasano also helped the state become one of the first to add Adrenoleukodystrophy (ALD) to Connecticut’s Newborn Screening (NBS) panel.

Aresimowicz said the focus of the event was not on politics or political parties.

“We are here because we want to make Connecticut a better place.”

Fasano told the gathering: “This is a civil rights issue to get the proper medications and research to go forward.”

Greta Stifel, who has two rare diseases on top of cancer, detailed her  grueling journey of misdiagnoses and many surgeries. In 2016, she established the Stifle Cancer Foundation to bring awareness to a type of cancer comprised of Neuroendocrine Tumors (NETS).

“We are the ‘Rare Rebels’,” she said. “We are the ‘Rare Revolution’.”

She is a constituent of Aresimowicz, and the proposal behind the pending legislation of House Bill 6522 comes from her. The bill’s title is: An act concerning continuing medical education in screening for inflammatory breast cancer and gastrointestinal cancers.

State Rep. Joe Aresimowicz, Greta Stifel and state Sen. Len Fasano

Stifle said the legislation is a step in the right direction, but the state needs to do much more with rare disease awareness, education, funding and research. “

Connecticut actually should be the Silicon Valley of Rare Disease,” she said.

State Rep. Jonathan Steinberg, chairman of the General Assembly’s Public Health Committee, said having one day to recognize rare diseases is not enough.

“It needs to be Rare Disease Day every day in the state of Connecticut.”

Steinberg, along with RAN’s Volunteer State Ambassador Lesley Bennett, said the legislature needs to form a Rare Disease Advisory Council to find treatments, fund research and advocate for Connecticut’s constituency living with rare disease.

“A lot of our patients have problems getting access to services because people don’t understand the disorders,” Bennett said.

The advisory council would be comprised of patients, patient advocates, doctors, researchers, business leaders and community members to address the emerging public health priority of rare diseases, including LCA and other IRDs.

Erica Mumm, a Clinical Assistant Professor at the Quinnipiac School of Nursing and mother of a son with a rare genetic disorder, said the system needs to change. She also supports the creation of a rare disease advisory council.

Not a one-size-fits-all community

“We are rare, so we don’t fit into a one-size-fits-all system,” Mumm said.

Her son, who turns 3 this month, has a rare genetic disorder called KCNQ2 encephalopathy, a type of epilepsy that becomes apparent in the first three months of life and is characterized by frequent and difficult-to-treat body seizures.

Mumm advocated for care coordination and described the drain and debilitation she feels as a caregiver. She also advocated for a palliative care network to improve emotional support for caregivers. She has exhausted her savings and said as her voice cracked through tears that her home needs extensive renovations to accommodate her son.

She also implored lawmakers to do away with resetting the clocks twice a year with Daylight Savings Time.

“For us, it’s a change of medication routine,” she said. To keep her son on track with his medications, three weeks before changing the clocks, she must begin making incremental changes in dosages.

A family panel of four caregivers told the group Connecticut needs to support businesses researching and developing treatments for rare diseases.

Alissa at the podium mid speech
Alissa Dejonge

“The sky’s the limit because of research,” Alissa DeJonge said. She is Vice President of Research for the Connecticut Economic Resource Center, Inc., and the mother of a 2½-year-old son with severe hemophilia.

Heather Knapp, a panelist and mother of three, described the benefits of the state-mandated NBS program that in 1964 began statewide blood-spot screening for Phenylketonuria (PKU), the same rare disease doctors identified in her son at birth. Early detection and treatments can mean the difference between lifelong impairment and healthy development. Knapp praised NORD for helping her with resources, saying she finally found peace of mind when she connected with the organization.

Panelist Father Nikolas Karloutsos, a Greek Orthodox priest, detailed the difficulties in getting a diagnosis for his daughter, who has a BRAF mutation RASopathy, which probably is Cardiofaciocutaneous (CFC) Syndrome. The very rare disorder particularly affects the heart (cardio-), facial features (facio-) and the skin and hair (cutaneous); it causes moderate to severe delayed development and intellectual disability.

For Jennifer Ianuzzi, it took 20 months until doctors diagnosed her daughter with Smith-Magenis Syndrome, a developmental disorder caused by chromosome 17 microdeletions. She appealed to the group for support for respite from 24/7 caregiving.

Researchers, scientists and professors also presented updates in their fields.

Ching Lau, MD, Ph.D., the Division Head of Connecticut Children’s Medical Center’s (CCMC) Center for Cancer & Blood Disorders and Professor of Genomic Medicine at JAX Laboratory, said that developing and strengthening international genetic research collaborations will help people around the globe access rare disease information through genetic registries. Dr. Lau specializes in finding treatments for children with rare blood, bone and brain cancers.

“We will conquer these diseases at the end,” he said.

Dr. Charles Whitaker, a neuromuscular neurologist at the Hospital for Special Care (HFSC), specializes in adult neuromuscular disorders, such as Amyotrophic Lateral Sclerosis (ALS) and muscular dystrophy. Dr. Whitaker said patients, physicians and experts need to work together to evaluate changes at a policy level that address the special needs of the rare disease population, which, along with having pre-existing conditions, in many instances are highly debilitated. As a clinical researcher working on treatments and cures, he said: “We would love to be part of that cure.”

Gyula Acsadi, MD, Ph.D., said interventions never possible in rare diseases are changing the lives of young children because researchers are focused on discovering genetics and the biology of disease.

“This last five, six years were amazing with how research succeeded,” he said.

A little boy sitting cross legged in a blue plaid shirt and red tie, holding a NORD zebra stress toy.
Alissa Dejonge’s son listens as she speaks at the podium.

Dr. Acsadi, Division Head of Neurology at CCMC and Professor of Pediatrics and Neurology at UConn School of Medicine, works with children living with Spinal Muscular Atrophy (SMA), the leading cause of death of infants and toddlers of any genetic disorder. SMA robs children of physical strength.

Newly approved NBS for SMA and new treatments administered early in children show remarkable results, he said. Even so, ongoing fights continue with insurance companies unwilling, for example, to pay $15,000 for a treatment that will save $2 million in care. One young patient spent more than 300 days in the hospital before receiving treatment, followed by zero days in the hospital.

“It’s an easy win in terms financially,” Dr. Acsadi said.

Dr. Saquib Lakhani, Clinical Director of Yale Medicine’s Pediatric Genomics Discovery Program, said 30 percent of children in the Intensive Care Unit have rare diseases and very complex needs.

“It’s a collective mistake to ignore rare diseases,” he said. “They have to be addressed.”

Dr. Lakhani specializes in caring for newborns and infants with undiagnosed birth disorders. Using DNA sequencing allows for many more diagnoses, he said.

“It’s been a remarkable change.”

He described a whole exome sequencing test that relies on new technology and allows rapid sequencing of large amounts of DNA with the potential to discover hundreds and hundreds of diseases.

While patients could benefit from this amazing vehicle to find the source of a disorder, they have difficulty getting insurance coverage.

“We don’t know what we’re looking for. (The DNA sequencing) can actually give you the diagnosis that you didn’t have before.”

Moving forward with research and developing treatments for rare disease requires that critical diagnosis.

As Daniela – our young cake-baker extraordinaire living with two rare diseases – summed up in her address to the legislative group:

“We are 30 million and counting. We are alive and we deserve better.”