Atom Biggs: ‘The Greatest Adventure of My Life”

Raising a blind son has been one of the most exciting and inspiring experiences a dad can ever have. I’d like to tell you a little about our son, Brandon.

As a baby he had some vision, so his visual impairment wasn’t initially noticeable to us. About the time he started walking, it became clear something was unusual.

At first my wife and I thought he was clumsy or maybe a little absent-minded when he would collide with things. When we’d put food on the table in front of him, he’d feel around for it with his hands while his eyes looked off into space. When I’d try to look him in the eye, he’d look to the right or left of my face but couldn’t seem to make eye contact with me.

We were shocked when the ophthalmologist diagnosed Brandon with retinitis pigmentosa (RP). Now we were faced with new challenges.

Before we had children, my wife and I sat down and put together a plan on how we would raise them. Now we had to rethink everything. Our first step was to gather every resource available to us. We were quite surprised at how much lay within our reach. We read books, got him a free computer, visited the School for the Blind, and learned how to read Braille. We also organized his room with little baskets and cubbies, so he’d know where to find everything.

One of the most important stories I read was written by a blind man whose parents coddled him his whole life and were afraid to let him venture outside the safety of his home. I determined that was not going to be the story of our son. Instead, we looked for every opportunity for Brandon to experience the world around him.

We took our son to the zoo, on hikes, on field trips, exhibits, fairs and everything we thought might be experiential and educational. A blind person’s eyes are his fingers, so we always made it known that our son was blind and requested special permission for him to touch, even if the signs said, “no touching.”

We enrolled him in Junior 4H. I bought him a bicycle and tried to teach him how to ride; he persisted without my help and taught himself how to ride in our basement.

We met with his teachers and explained how blind children learn differently from sighted children and what accommodations Brandon would need in his classroom. We emphasized that he should be allowed to experience everything the other students experienced and not be left out of anything. They almost always listened to us and were grateful for our input.

We found that none of Brandon’s teachers had any experience with blind students, so we met with them frequently to make sure he didn’t get brushed aside. I think the most common excuse from teachers not to let Brandon participate was “we’re just concerned about his safety.” We’d explain that if they’d just let him tour the stage platform with his cane or have him buddy-up with a friend until he learned to walk the trail, he would be perfectly safe.

When our son was younger, we advocated for him, but as he got older we encouraged him to advocate for himself.

I think Brandon’s first major experience for self-advocacy was 7th-grade basketball. I told him I really didn’t think basketball was for him but that if he really wanted to play then he should arrange a meeting with the coach and the principal and voice his feelings. And so he did. He told them how much he wanted to play basketball, we were at the meeting and backed him up, and the coach was so impressed that he let Brandon on the team. He only played defense, but he played almost every game and the coach said Brandon was the most tenacious guard he’d ever had.

Brandon went on to advocate for audible traffic signals near our home, so he could safely cross the street and catch the bus. He touched models of cells in biology class, so he could feel what everyone else saw. Currently Brandon is advocating for the entire blind community to get them equal access to many online applications and software programs.

When Brandon was first diagnosed and we shared it with our friends, we got a lot of pity responses. I wasn’t sure what to say, but now I do.

Now when I tell people that my son is blind, and they say, “Oh, I’m so sorry!” I tell them there’s really nothing to be sorry about. It’s been the greatest adventure of my life and I’d have it no other way.

Learn more about Brandon

Read Brandon’s mother’s story

Read Brandon’s wife’s story

Sonja Biggs: “My Normal and His Normal Are Just Different”

Brandon Biggs is the chief financial officer with his mother Sonja in their company, he conducts accessibility research and he helps businesses make their software content more accessible to the visually impaired.

He is a 26-year-old self-taught programmer who is earning a master’s degree in Inclusive Design from OCAD University in Toronto while living on a houseboat in Groningen, Netherlands, with his Italian wife. Oh, and he’s an opera singer?

But he’s still Sonja Biggs’ little boy.

“Even with all the successes in his life and his own positive spirit toward blindness,” Sonja says, “I am still having a mom moment in my heart.”

Brandon has Leber congenital amaurosis with a mutation in the CRB1 gene. He was diagnosed as a toddler, and subsequently, Sonja became a Teacher of the Blind and Visually Impaired, and an Orientation and Mobility Specialist. She, Brandon, and her husband (and Brandon’s dad), Atom, run Sonja Biggs Educational Services, Inc. Sonja and Atom live in Gilroy, Calif., and they also have a 22-year-old son, Joshua, a talented programmer, gifted in science and graphic art.

Brandon’s interests include theater and opera. He performed in many musical theater productions and in a professional production of “La Bohème.”

“I was introduced to opera by a voice teacher when I was 18,” Brandon says. “And I fell in love with the mysteriousness and power of singing something so emotional and powerful in another language.”

His mother said she and Atom always encouraged both their sons to explore. When they were interested in marine life, they went to the San Juan Islands; when they were interested in volcanoes, they went to Mt. St. Helens. Bats? They checked out zoos and bat houses.

“We never told them no,” she recalls. “We just immersed them in whatever they were interested in and made it real for them.”

Sonja likens the inaccessibility of common tools for the visually impaired to the process of making chocolate chip cookies by adding the chips to the cookies after they’ve baked and cooled.

She said her “mom-heart” sometimes gets in the way of what she knows in her head. She still sometimes grieves that Brandon is blind.

“All of a sudden, something triggers it along the way – ‘Your son has no sight,’ or his frustration over inaccessibility in an application.”

Any parent of a child with disabilities goes through different stages of grief, she says. “The grief never seems to go away; it crops up at inopportune moments.”

A vision appointment triggered the grief this time. Brandon has no measurable vision, seeing light and shadows. He said he does not even notice his sight disappearing.

“I look at the things that I see every day that are beautiful,” Sonja says, “and he’s never seen them.”
Brandon is married and he’s never seen his wife. “He’s felt her, but he’s never seen her,” she adds. To which Brandon replies, ‘Yeah, mom, I can tell how beautiful someone is by touching their elbow.’

She knows her son’s blindness does not make him any less an accomplished human being. “He’s a beautiful young man. He’s wonderful, and to him it’s just normal and I just have to remember that,” she notes.

“My normal and his normal are just different.”

Learn more about Brandon

Read Brandon’s father’s story

Read Brandon’s wife’s story

Living with LCA: Brandon Biggs

Brandon Biggs was diagnosed with vision loss — and ultimately with Leber congenital amaurosis (LCA) — as a toddler. His genetic mutation is LCA-CRB1, which can cause LCA, retinitis pigmentosa (RP) and cone-rod dystrophy. CRB1 is the second highest incidence (10%-13%) of the nearly 30 different LCA genes that cause the disease.

His mother, Sonja Biggs, described in a telephone interview from her California home that despite all her now-26-year-old son’s accomplishments, she still has her “Mom moments,” triggering grief for her son’s vision loss.

What we discovered in exploring Brandon’s story for our series “Living with LCA” is that different members of his family have differing views of their journey with this rare inherited retinal disease. And so we invited the Biggs family to each share their story revolving around Brandon — mom Sonja, dad Atom, and wife Claudia.

But first, a little about Brandon himself: In pursuing his master’s degree in Inclusive Design, Brandon is writing his thesis exploring multimodal representations of data. He is focusing on creating auditory maps for blind people showing, for instance, where the hurricane is in Texas, or where the wildfires are in California. He is also working on making auditory graphs, so blind students won’t be required to always read tactile graphs.

“As technology is developing faster and faster,” Brandon says, “it is becoming more and more difficult to make sure technology is accessible to blind users, especially in the work environment.”
As a business owner, Brandon sees how difficult it is for a blind person to work in a small business. “I evaluate systems, such as for accounting, payroll, HR, timekeeping, document storage . . . and it is scary that for many crucial systems, there are few accessible solutions and no user-friendly solutions (for the blind).

“I just evaluated around 20 accounting systems and there were only two systems that were partly accessible; all the others were completely inaccessible. This means that blind people who work at all with accounting can only successfully work at companies that use those two systems, and only about half as efficiently as their sighted counterparts. This half-efficiency is because the experience of the blind user was not taken into consideration when the system was developed.”

Despite these issues, Brandon is actively working with companies to make their systems more accessible. He performs user-experience reviews for companies and writes evaluations of their products from a blind user’s perspective. He recently evaluated Intuit’s QuickBooks Online, and Intuit invited him in to see what they are working on.

“They are very slowly making changes that I recommended, but it is very slow. There are two guys on accessibility out of the 8,000 employees at Intuit, and that is considered to be a big accessibility team.”
All the more reason that Brandon is devoting his life to making sure blind people have quality access to technology.

Read Sonja’s story

Read Atom’s story

Read Claudia’s story

Making Connections: Nightstar Therapeutics

I was so happy to recently speak with Samantha Vieira, Senior Director of Program Management of Nightstar Therapeutics. Nightstar is a leading clinical-stage gene therapy company focused on developing and commercializing novel, one-time treatments for patients suffering from rare inherited retinal diseases that would otherwise progress to blindness.

Based in London, they also have a small office in Lexington, Mass., and have several projects focused on retinal disease in their pipeline.   

Their mission is to maintain and restore sight in patients with inherited retinal diseases and they shared information about four projects currently in their pipeline to treat these inherited retinal diseases: Choroideremia, X-linked Retinitis Pigmentosa (XLRP), Best Vitelliform Macular Dystrophy (MD) and Stargardt disease.  

Choroideremia a degenerative, X-linked genetic retinal disorder primarily affecting males is expected to enter stage 3 clinical trials in early 2018.  Very exciting news!  

Table showing preclinical to phase 3 for Choroideremia, X-linked Retinitis Pigmentosa (XLRP), Best Vitelliform Macular Dystrophy (MD) and Stargardt disease

Their website includes helpful overviews of the four diseases for which they have projects, and some great videos as well.  If you are interested in learning more about their research or upcoming clinical trials, there is also a sign up form for patients and families here.  

As always, I’m encouraged to meet a company that is dedicated to finding treatments for rare inherited retinal diseases, and I look forward to hearing more about their work in 2018!

Living with LCA: Life Through Vicky’s Eyes

Preschooler Vittoria shrieks with delight as she bounds down the cobblestone way, toward the big statue of the angel riding a chariot. Later we see the almost-4-year-old, nicknamed Vicky, tossing a coin in the azure waters of an elaborate fountain. Yet another image shows the little girl with glasses going bump, bump, bump, down the ancient marble steps on her bum.

This is all part of her parents’, Silvia and Enrico, effort to help their daughter see as much as she can while she still has vision.

The couple learned in April 2016 that their daughter had Leber congenital amaurosis (LCA). Vicky was 2½ and her mom was six months pregnant with little brother Filippo. That October, doctors genetically diagnosed Vicky with LCA-RDH12. Filippo carries the gene, but he is not affected by Leber congenital amaurosis.

On a recent trip to their native Italy from their home in the U.K., the family took in many sights, including Winged Victory, a majestic statue of the goddess Victoria riding a chariot pulled by four horses, atop the Altar of the Fatherland, and the stunningly ornate Trevi Fountain.

The images are from their Facebook video, “Come see with me . . . Rome!” or “Vieni con me a . . . Roma!” Vicky smiles and at times looks straight into the camera with her big brown eyes.

The video is among several “come-see-with-me” stories created by Silvia, and it represents one of the three goals the couple has for Vicky – to show her all they can while she still can see, before the effects of the Leber congenital amaurosis fully take hold.

Preschooler Vittoria “Vicky” Cerolini swimming with pink floaties and pink sunglasses.

The second goal is to support Vicky’s development despite her sight impairment. They look for the right kinds of social, educational and technological environments in which their daughter can thrive.  

“As parents, this is what you do,” Silvia said. “You invest all your effort in fighting for a better life for your kids.”

Their third goal is to do all they can to help find a cure. They have attended rare retinal disease symposiums, which led to an invitation to a family conference where they connected with researchers.

Silvia worked to find people around the globe – the U.K., Italy, Germany, South Africa, China, Australia, Canada and the U.S. – to partner with families and to raise money to fund research to correct the RDH12 gene.

They’ve connected with a group of U.S. families who are part of the RDH12 Fund for Sight. One of those families is Allison Galloway and her husband, Michael, who live in Colorado with their children, 6-year-old Logan and 4-year-old Zoe, both of whom have the RDH12 mutation. They also joined with people in Europe through Candle in the Dark.

Silvia and Enrico learned quickly that much needs to be done – and fast – to find treatments and cures. They’ve launched campaigns to support their near-future goal of funding the work of two researchers concentrating on RDH12.

Amid these efforts, Silvia said she has good days and bad days.

The family had a terrible scare recently when Vicky could see nothing for a few seconds as she rode on an escalator. “The thought of going suddenly black was really, really frightening,” Silvia said.

Then there was the time when their school of choice for Vicky made them feel as if they “shut their door in front of us,” saying they had no experience with sight loss and showing no willingness to learn or support the child.

Preschooler Vittoria “Vicky” Cerolini in a bright red jacket and eyeglasses, enjoying an outdoor cafe.

“It was really, really heartbreaking. This complete, cold, concrete reality,” Silvia recalled.  

They found another school, where Vicky is flourishing. To help educators understand Vicky’s level of sight, a visual-impairment teacher brought glasses simulating Vicky’s vision for the regular teacher to try. Silvia said the teacher’s jaw dropped when she learned she was experiencing how Vicky sees now.

Silvia said it is incredible what her daughter can accomplish. Vicky does everything all the other kids do. She climbs and plays, she’s vibrant and full of energy, and she loves pizza and hearing stories.

“Now she’s into the fairies and princesses. Every night we have to read three books and she always asks for more.”

Vicky, who will turn 4 on Christmas Eve, does not quite understand her sight loss. “We haven’t fully told her yet; she knows she wears glasses and they help her see better … I know the worst is yet to come.

“On the other side, we have committed now to do everything we can to help, including fundraising for an RDH12 cure. It’s actually liberating because it’s given us purpose and initiative in life.”

Silvia’s thoughts on the future:

“Maybe the message is cliché, but it’s really about hope and doing everything we can. I don’t want to give up. I feel a sense of urgency because I feel it might come a little too late.

“I want to say 50 years from now, I’ve done everything I can. In the worst-case scenario, it’s going to help future kids, and still it is going to show Vicky the importance of fighting for your hopes and beliefs.

“In the best-case scenario, imagine a cure is coming in time and we can help kids like Vicky see for longer! If I had even a little role in making this happen, imagine how fulfilling that would feel.”

Follow Vicky’s journey here.

RPE65 Trial Patient Tami Morehouse: “There’s So Much To See”

Tami Morehouse made research history in the Leber congenital amaurosis world, and in the nation, when at age 44 she became the oldest person in a successful LCA-RPE65 genetic therapy trial, and the first patient to receive the retinal therapy in both eyes.

It’s been a long road for Tami, now 53 and living in the Cleveland area with her husband, Mike.

With no LCA diagnosis until her 30s, Tami made her way through life doing whatever she had to do. Sink or swim, she developed good coping and resource skills.

“I did what I had to do,” she said. “I had enough vision to make it work.”

No one noticed her vision problems until she was about a year old, when nighttime came, and she couldn’t see well at all. Attention focused on the idea she had night blindness.

It is difficult to detect vision clarity in small children, but her mom and dad knew something wasn’t quite right. Doctors picked up on it when she was 5, during an exam in which she recalled she was scared to death, screaming and crying, because they were poking around her eyes.

They determined she had issues with the clarity and clearness of vision, known as visual acuity.

She just adapted

From kindergarten into her 20s, she adapted to her surroundings and to her level of vision. She had difficulty seeing the chalkboard, reading a paper or deciphering bulletin-board postings.

“All of my teachers knew I had a hard time. I needed more light than the average kid. I remember the hallways of my elementary school were very, very dim and I had a hard time making my way around.”

Something her father said a long time ago helped her along the way. Her dad, who always called her Timmer, said, “‘Timmer, we all have our troubles, and if you want me to take you anywhere or do anything, just ask me.’ They just treated me like the typical kid I was not.”

Studying social work at Edinboro University in Pennsylvania, Tami scheduled classes in familiar and comfortable places. She avoided night classes, and when she couldn’t, she’d figure out how to get there, walking in better lit areas.

She realized that all her life she was a tweener – someone poised in-between.

“I was a tweener for forever because I did most things like everyone else did and there was that part that everyone else didn’t know.”

Since she was young, some sort of eye doctor tracked her through the years, but it wasn’t until she got her first social-work job and her then-boyfriend, now-husband, Mike, said they needed to explore potential options.

Specialists diagnosed her under the retinitis-pigmentosa umbrella and told her she would lose her vision. They said it was good she already had her education and she should consider having her children now. “It was a heartbreaker day,” Tami recalled.

As she aged, so did her retina and its ability to function well. She went from reading storybooks to her three children to reading Dr. Seuss alphabet books. Some days she saw only hazy grays and browns and needed the brightest lights to see.

“It was really very scary. At that point, before the trial, I had more poor-vision days, than OK-vision days. Sometimes I was scared to death to set my alarm. What if tomorrow is the day I wake up and my vision doesn’t get better? What if I wake up and I can’t see?”

But one Sunday morning, Tami was in the house, and her husband was out in the garage. He suddenly barreled in. He had heard on the radio that a study was being done on children with LCA in Philadelphia by Dr. Jean Bennett and Dr. Albert McGuire. Mike called Bennett the next day, and the wheels turned fast. Bennett opened the study at Children’s Hospital of Philadelphia to older patients and invited Tami to take part in the Spark Therapeutics trial that would change her life.

In March 2009, doctors injected her left eye with healthy cells to help her retina perform more efficiently and regenerate healthy cells.

Several days later, she and her husband were having dinner in Philadelphia and Tami reached over and picked up her drink.

‘Do you know that you just reached over and picked that up, you didn’t feel for it?,’ Mike asked. ‘You just looked out and saw it and picked it up!’

The injection in her right eye in November 2010 brought more brightness and clarity, to the point where she could see some eye-chart letters.

In spring at a baseball practice for one of her sons, she noticed colors more than ever before.

“It was color and light and movement and the kind of stuff people take for granted every day, which may seem small if you have it. Once you lose those little things and then get them back, you realize how important they were. For me it was huge.”

Tami also got to see her daughter taunting the opposing pitcher on her softball team, as she frequently danced up and down the third-base line to almost always steal home.

‘Don’t give up’

Her only wish was that the therapy had been an option sooner, because as the years passed, her retinas kept deteriorating.

“If this was a life-threatening illness,” she quipped, “I would have died a long time ago.”

She advises anyone with LCA-RPE65 to investigate whether the therapy is an option, saying, “Time is of the essence. Don’t give up. There were a lot of us in that trial and we all seem to have different levels of benefits from procedures, whether you have a little vision or a lot of vision. I just value my vision so much, I just think everybody needs to act and respect whatever level you have and just be glad to have it. There’s so much to see. It’s an incredible gift.”

College Connection: Three Things Parents Can Do For Their Visually Impaired Child

Parents want nothing but the best for their children. This is why I am so often asked questions like, “I have a 6-year-old son who has a vision impairment. What can I do to help him become independent when he grows up?” I am lucky to have the parents I do because they have done many things that have helped me become the confident and independent person I am today. I am going to share a few examples of what they did for me in the hopes that you can help someone in your life, too.

Never Say “No”

“No” was never a word I heard growing up unless I was misbehaving (not that I ever did that). Once around the age of 8, I was talking about what I wanted to be when I grow up and my Dad, a financial planner, said “Jack, maybe you can take over my business.” My response was “I can’t do that, you drive lots for meetings and I am not allowed to drive.” Instead of agreeing with me, my parents simply replied,  “Jack, you could just have the clients come to you.”

I was never given an easy way out because I couldn’t see well. Instead I was intentionally challenged, which helped me develop many skills. In my preschool years, my parents would go for walks after dinner when it was dark. Most nights I would follow them on my tricycle. I have never been able to see in the dark. My parents didn’t always know this but when they found out, they didn’t stop me riding the tricycle in the dark. I believe that this helped me gain the excellent orientation and mobility skills that I have today.

Children who are different are often targeted by bullies. I was bullied frequently but I always knew that I could go to my parents for help. Being there also refers to being your child’s biggest advocate. Relentlessly advocate for an accessible education for your child because without that he or she will never be independent.

I hope that you can apply these examples to your own life and that you are inspired by my parent’s actions – I know that I am! As always, feel free to reach out online.

Jack McCormick is a 21-year-old honors business student at Canada’s Wilfrid Laurier University in Waterloo, Ontario, and he is a member of the National Young Leaders Program for the Foundation Fighting Blindness. Jack was diagnosed in high school with Leber congenital amaurosis due to mutations in the RPE65 gene. He is also a Hope in Focus (formally Sofia Sees Hope) Ambassador, helping people living with LCA and IRDs.

Tell Us Your Story: Allison Galloway

Somehow I made it through 37 years of life without ever meeting a blind person.

Then my 3-year-old son was diagnosed with a rare genetic disease called Leber congenital amaurosis (LCA) that will cause him to go blind in his teens or twenties. My world was set into a whirlwind of grief, confusion and anger.

How was it possible that two completely healthy parents who did everything the doctors told us to do before and during pregnancy, could have a child with such a traumatizing diagnosis?

As the weeks went on my grief turned to anger, my anger to guilt, my guilt to a desire to solve the problem to which there was no solution.

This disease caused my son’s body to lack the ability to create a simple enzyme called retinal dehydrogenase, which assists in the cleaning and health of the rods and cones in his eyes. It is an autosomal recessive gene defect that appears when each parent has a mutation on the same gene in the same place. There is a 25 percent chance that each child they create will have this disease. The odds were against us, I suppose.

A year and a half later, we learned the odds were even worse than we thought. Our son was 5 and our daughter was 3. One day at dinner I noticed my daughter’s eye started to bounce from side to side. I immediately knew what it meant. A nystagmus means that the eye is weak and sick. I didn’t need the gene results to know that not only did my son have LCA, but my beautiful little girl did too. A 6 percent chance …

LCA diagnosis is truly life changing

There are social repercussions to a diagnosis like this. I lost friends because they couldn’t cope with the thought of a child losing his sight. My son has had kids tell him he can’t do certain things because he is the “blind kid” (and he is only in kindergarten). People told me that what I was feeling about my kids’ diagnosis —that sense of loss or death of the life that you thought your child would have —was the wrong way to feel.

What fueled my determination to speak out for all those parents dealing with a similar heart-sinking diagnosis occurred at our eye doctor’s of all places. I walked into the office determined to figure out what was wrong with my son’s eyes. After an hour and a half, the doctor handed me my child’s diagnosis on a piece of paper. She told me to schedule a procedure under anesthesia for my son at Children’s Hospital with no explanation of why or what we were looking for and then told me to follow up in a year “if I wanted to.”

I Googled what was written on that paper. The first word I saw was “blind” and the second phrase that stood out was “no cure.” That was all I had. I am a nurse practitioner but I had very little knowledge of the eye. I knew then and there that I quickly had to learn all I could. The problem is that so many families get the same kind of “rare disease news” and have no idea what to do. They trust their doctors to be the knowledgeable ones. If a doctor says there is no cure, well then there is no cure, right? Nothing left to do but learn how to accept it, scared and alone.

I want to stand up for all those parents out there who don’t know where to go once they hear something hard about their child. I have met many families who have had similar diagnoses as my children and the doctors tell them that there is no cure yet, so there is no need to do anything but deal. This infuriates me.  The lack of assistance given to parents is astounding.  If I had not had the financial means, the education, and the network, I would have taken the advice of my first doctor and just followed up ” if I wanted to.”

As time has gone on I have met so many amazing parents, families, teachers, and researchers who are determined to cure many of these rare diseases. Social media has opened so many doors. I was lucky to find a group of 18 families whose children all have the same gene defect as mine, RDH12. Together we created a network of motivated parents who have formed a 501(c)(3) named RDH12.org to raise money. We work with scientists around the world to fund research. We support each other even if we live in the U.S., Italy, Australia or Saudi Arabia. We try to advocate the importance of all children diagnosed with a rare disease to get genetic testing. Without it we would have never known what our children had, let alone how to cure it.

Use the resources

There are amazing things out there like the website, Myretinatracker.org, which was created to generate a database of everyone with inherited retinal disease so scientists can easily access a population to use for clinical trials. Everyone should be on it if they have a genetic disorder.

Genetic testing is free in many instances and all it requires is a simple blood test. Spark Therapeutics has just started an ID YOUR IRD gene testing initiative for free to patients that aims to help inform as many people as possible of their specific gene test. Knowing the gene is a critical step towards getting treatment if it is available or toward helping advance the research that will lead to cures. It is for this reason that I am writing to you. There is so much that we can do if we have the knowledge to do so and we spread the word.

This rare disease is what comes between my children and the world. It limits them. Rare has flipped our world upside down and forever changed me. It keeps me searching for answers and fighting for all those families out there. We know our love is what keeps us going on the days that feel impossible. Love is what will keep us moving on the days when the news at appointments is less than positive. We never give up on our children, and we will never stop fighting for their well-being.  All we want is for our children to not have to fight so hard to simply be.

Allison Galloway lives in Westminster, Colorado, with her husband Michael and their two children, 6-year-old Logan and 4-year-old Zoe. 

Living With LCA: Annie’s Story

Annie Cohane takes singing lessons and piano lessons, she runs track, she’s working on swimming, and she’s a second-grader at an elementary school in Norwell, Mass.

She’s 8 years old and an emerging Braille reader.

“She’s a happy, very happy-go-lucky, strong-willed, little girl,” Annie’s mom, Jenny, said.

The goal for Jenny and her husband, Kevin, is for Annie to become as independent as possible.

She rides the bus to school, she goes on play dates.

Annie Cohane in sunglasses with her mom Jenny.
Annie was diagnosed with Leber congenital amaurosis (LCA) at 3 months of age. Genetic testing later showed a mutation in her CEP290 gene.

“She just figured out she was blind in the last few years,” Jenny recently said. “So far, it turns out it doesn’t affect her at all.”

In 2009 when Annie was 2 months old, she involuntarily moved her eyes side to side, prompting a diagnosis of nystagmus, a condition affecting about 24 out of 10,000 children.

A month later Annie underwent an electroretinogram (ERG), showing a diagnosis of Leber congenital amaurosis (LCA)  and that Annie was blind.

“I was shocked,” Kevin said. “I probably didn’t take a breath for 50, 90 seconds, trying to figure out what that meant. You never imagined your child would be anything but happy and healthy.”

Genetic testing later showed a mutation in her CEP290 gene.

The Cohanes had hope, however, because doctors assured them that cures and treatments were in the pipeline to help people like Annie with LCA.

Annie Cohane laughs with her dad Kevin.

Barely wrapping their heads around the life-changing news, they needed to tell their families. Jenny already had moved onto the planning side of caring for Annie, while Kevin made calls to family and friends.

“We were only concerned about Annie,” Kevin said. “They were concerned about Annie and us.”

While still processing the news, Jenny and Kevin – who met while training for triathlons, literally and figuratively crossing each other’s paths – got busy.

Early intervention specialists came to the house weekly, and then Annie enrolled in an infant/toddler program at the Perkins School for the Blind until she was 3. They worked to ensure their little girl’s access to any available resources to help her become confident and independent – just like any other child.

Annie Cohane and her big brother Petey at the beach

Clearly these specialists – social workers, occupational therapists, vision specialists, physical therapist, speech therapists – helped Jenny and Kevin navigate this unfamiliar world with Annie and her older brother, Petey.

Then, these endurance athletes, who happen to have fund-raising experience, decided after attending Foundation for Retinal Research conferences to help fund research into LCA.

Jenny came up with the idea of giving parents a nice night out, and in 2012, they turned their backyard into a big fund-raising party with plenty of donated food, drink and live music.

The parties, each with a theme, became a platform for learning from Annie. They chose themes in which partygoers could take away their experience and apply it to their lives. They ranged from stop-and-smell-the-rosemary to back-to-basics.

“That is how we try to live our life,” Jenny said.

Two years ago, 350 people came to their barn and backyard. This past September, they raised more than $37,000, bringing their total over the years to more than $160,000. They originally gave the funds to the Foundation for Retinal Research, and now they go to the Foundation Fighting Blindness  since the FRR rolled into the FFB. Also, this year more than $2,400 went to New England Adaptive Sports.

Attending this year’s Dinner in the Dark  presented by Sofia Sees Hope also gave the Cohanes hope. At the event, Jenny and Kevin sat next to Jack McCormick and his 5-year-old lab/golden-mix guide dog, Jake. Jack is a 20-year-old business honors student in Ontario, Canada. He also is a thoughtful, well-spoken advocate for accessibility, and he is a mentor, urging people with LCA to tell their stories to boost self-confidence and attract researchers.

“He was phenomenal,” Jenny said. “He’s exactly what I want Annie to be.”

Eight years ago when Kevin came home after getting Annie’s diagnosis, he took a nap, and when he woke up, he told Jenny he had a dream that Annie was sitting across from him in a hospital room.

“She was 13, 14, and I could tell she could see me, and I started crying, and she said, ‘Dad, why are you crying?’”

He told her, “I’m just so happy that you can finally see what we look like.”

She replied: “But I’ve known what you looked like all along.’’

Kevin believed then, as he does now, that his dream foreshadows a time when researchers find a cure for LCA-CEP290 and Annie will see.

In October, the FDA recommended approval for genetic therapy for the LCA-RPE65 gene, one of more than 25 genes associated with LCA. If approved, the therapy would be the first of its kind for LCA and the first in the nation for any genetic disease. Also, the research in progress when Annie was an infant is now well into later stages of study.

Kevin said after the dream he felt an amazing sense of peace.

“I just felt confident we’d be able to get through it, even if we didn’t know what we were facing, he said. “All we have to do is love her to our best ability and everything is going to be fine in the end.”

Successful Strategies for Patient Organizations

Your voice counts! Lawmakers on the state level need to hear from people living with Leber congenital amaurosis (LCA) and other rare diseases to help secure funding for research, patients’ needs, costs associated with living with a rare disease and accessibility on all fronts.

Your voices and those of organizations representing the rare disease community need to be heard by your state senators and representatives now to prevent elimination or reduction in funding, especially in these times of tight budgets.

This advice came during a conference workshop – Successful Strategies for Patient Organizations – at the recent 2017 Rare Disease & Orphan Products Breakthrough Summit presented by the National Organization for Rare Disorders (NORD).

Rare diseases number more than 7,000. You can make a difference because of the power in numbers. Start making contacts now as we approach Rare Disease Day on Feb. 28, 2018. Plan to combine efforts with other rare disease organizations in your state and rally for cures, regardless of the disease/gene that you represent.

Rare disease community members represent 10 percent of legislators’ constituents. Know that number before you meet. For instance, if 20,000 people live in your district, 2,000 live with rare diseases.

The legislators in any state’s capital, work for you. Don’t be intimidated; realize the impact you can have by reaching out and/or meeting with your representative or senator. Research them in advance online, find out on which committees they serve, when and where they are in session, and contact their offices regularly.

For instance, in Connecticut, the Human Services Committee  has jurisdiction over all matters relating to the Department of Social Services and would include services for the rare disease community.

Meeting with legislators or their staff does not have to happen at their offices. Build a relationship by inviting them to key events and meeting them at theirs. Always say hello so you stand out from the crowd. Keep calling and keep emailing.

Tell them your personal rare disease stories. Talking from the heart has impact. Even if they oppose your proposals for legislation, they’ve heard your story and you’ve offered them a worthwhile perspective that in the end may help change their minds.

Brings notes to keep on-point. Avoid making your pitch sound too complex and don’t share irrelevant information. Leave behind business cards and notepads or pens imprinted with your organization’s logo. Follow up the meeting with a thank-you card and a phone call.

Also, your best friends in the world of lawmakers are their staff members. Staffers keep track of legislators’ calendars and decide when meetings take place. If you do secure a meeting with staff and not the legislator, don’t be insulted as this often is the first step in meeting with a lawmaker in person. Staffers will relay your key points.

Remember, legislators want to do a good job representing the people in their district. They do that by receiving pertinent information from you and your organizations so they can make a difference by developing, sponsoring and enacting legislation beneficial to our rare disease community.