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.”
Always Challenge
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.
Be There
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.
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.
You are not 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.
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 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.
“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.
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.
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.”
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.
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.
A two-day conference in Washington, D.C., earlier this month offered the opportunity for organizations such as Hope in Focus (formally Sofia Sees Hope) to discover the latest in the rare disease community, meet the nation’s top rare-disease professionals, and gather resources and ideas to help with the Leber congenital amaurosis (LCA) community.
The summit, presented by the National Organization for Rare Diseases (NORD) , included a range of topics, from the challenges of healthcare costs, to the ethical guidelines for patient organizations and themes of collaboration, urgency and transparency.
The summit’s second day featured presentations by the Food & Drug Administration’s leading Division Directors and discussions of improving the lives of patients with rare diseases.
Key presentations included ensuring patient access, sustaining orphan drug development and availability, and reviewing achievements in rare disease drug, biologic and device development.
Mike Porath, founder and CEO of The Mighty and a parent of a child with a rare disease, gave a motivating, multi-faceted presentation in his keynote community address. His advice to families living with a rare disease included asking for help, embracing the moments and dreaming big to open doors for people with rare diseases.
At three o’clock Thursday afternoon, Beth Chiarella and I had a very public moment of tears and hugs at Baltimore–Washington International Airport as we received news that after a day of hearing testimony, the Federal Drug Administration’s Advisory Committee unanimously recommended approval of a gene therapy that could reverse or reduce vision loss due to an inherited retinal disease (IRD).
The committee listened to Spark Therapeutics present their research and findings on LUXTURNA® (voretigene neparvovec), an investigational, potential one-time gene therapy, and heard testimonies from families whose lives have been changed dramatically by the therapy. Members then voted 16-0 without comment to endorse approval of the therapy for the treatment of patients with vision loss due to confirmed biallelic RPE65-mediated inherited retinal disease (IRD).
Alongside the brave individuals and their family members who were part of the clinical trials and traveled to Washington, D.C., to share their personal stories in support of this therapy, I played a small part in what is no doubt an historic moment for all LCA families. I’m grateful to Tami, the oldest participant in the RPE65 trial, who allowed me to share her experience with the panel, reinforcing that this treatment is life-changing at any age, and for any length of time. I’m also grateful to all of those who have made it possible for Sofia Sees Hope to play a role through their continued advice, support and enthusiastic cheerleading.
While this first treatment does not address the dozens of other genetic mutations that cause blindness for LCA and IRD individuals, we can hope that this endorsement will be followed by a potential FDA approval, in turn paving the way for continued research and treatment for my daughter and our entire LCA community. Thursday marked a positive step forward on the path to changing the lives for many people.
“This is such an important event because it allows the patient population — the parents, and children and families — directly impacted by this very important decision-making process to be heard,” Manfre said. “The FDA has a critical job to do in weighing all of the potential risks and benefits with any drug approval, and they recognize that the voice and the experiences of those who are affected needs to be a part of that process.
“Part of Sofia Sees Hope’s mission is to help serve as a connection among families living with LCA,” Manfre continued. “We see this opportunity to offer testimony as another way to fulfill that mission.”
As a presenter at the FDA’s public advisory meeting of the Cellular, Tissue and Gene Therapies Advisory Committee (CTGTAC), Manfre will be representing patients and families living with LCA and other rare inherited retinal diseases. The meeting begins at 8:30 Thursday morning and runs to 5 p.m. at the FDA White Oak Campus in Silver Spring, MD.
RPE65 mutation-associated retinal dystrophy is an orphan disease, with an estimated 1,000-3,000 patients affected in the United States, according to A Shared Vision.
Manfre said research and bringing therapies to market provides hope to all LCA and IRD families.
“Though families may struggle with the day-to-day challenges, they can have hope that there just might be a light at the end of the tunnel,” she said.
“To help foster this effort,” she said, “Patients and families need to seek diagnoses, participate in patient registries, and continue to generate awareness and make our voices heard. Our disease is rare, which makes it more important than ever that we are working together to be advocate for our community and to move treatment and cures for blindness forward.”
For the meeting, Spark submitted to the FDA a 149-page briefing detailing the history, background, studies and research that went into developing voretigene neparvovec, which has the proposed trade name LUXTURNA.
The FDA’s 42-page briefing details its analysis of the proposed treatment and offers discussion questions for the advisory committee that include at what age should patients receive treatment and what are the treatment’s potential risks and benefits.
Here are some links for more information about the meeting:
Doctors diagnosed Jack McCormick in high school with Leber congenital amaurosis due to mutations in the RPE65 gene. With a mix of feelings about his diagnosis, it was when he accepted his visual impairment that he began evolving into the young and innovative leader he is today.
Jack is smart, funny, creative, articulate, compassionate. The 20-year-old also has a passion for inclusion and he is an advocate for accessibility on all fronts.
For a long time, Jack, like many blind or visually impaired people, worked hard at hiding his blindness; he didn’t want people to judge him because of it. But all of that changed in his senior year of high school when he got Jake, his beloved guide dog. Jake immediately made Jack feel like he was wearing a sticker that said, “Hey, I can’t see,” which meant no more hiding.
Acceptance leads to respect and opens pathways to social accessibility and, in turn, helps fuel research, Jack explained before an international audience in Toronto at the Foundation Fighting Blindness Vision Quest 2016 conference.
“I accepted it in myself and that is the most important thing you can do,” he said. “To accept it in yourself and be so confident about it that you walk around with your blindness as a badge of triumph rather than a badge of sorrow or something you’re trying to hide.
“And in doing that, people are going to be very committed to you, they’re going to respect you and respect is a very powerful thing.”
That respect continues in social situations, such as securing a job, and in fostering research, because people will know that blindness is an issue.
“It’s visible,” he said. “If the community sees it, they know it exists. If you’re hiding it, no one knows.”
Along with acceptance, Jack encourages people with blindness to tell their story. “The most powerful thing in your life is your story, so share it. Share it. Because when you do, other people will hear it and they will tell other people and then you’ll have the opportunity to share it with more people and it’s a spiral.”
Simon Wheatcroft held his audience spellbound at the Global Genes conference in California where he detailed his journey from losing his sight as a teen-ager due to retinitis pigmentosa to competing in ultramarathons and overcoming many obstacles in between.
Simon recounted his amazing life experience at the Hotel Irvine in Huntington Beach, Calif., during the 6th Annual Global GenesRARE Patient Advocacy Summit on Sept. 14 and 15. More than 700 patients, caregivers, advocates and rare disease stakeholders gathered to share, learn and connect.
Simon, the conference’s opening keynote speaker, shared his journey of adapting technology, specifically on his smartphone, to achieve what seemed like impossible personal goals of learning to run solo outdoors. In his message of “Adaptability in the Face of Adversity,” Simon said he lost his sight at 17 due to retinitis pigmentosa, and seven months later, he ran his first ever race – a 100-mile road race.
Ultramarathons – races more than the traditional 26.2-mile marathon – present extreme physical and mental challenges for anyone, but with his loss of vision, Simon faces more complex obstacles. He trains with guide runners and uses memorization and technology.
To run solo, Simon forms a map of the area by using the smartphone app, RunKeeper. He memorizes the
Simon Wheatcroft held his audience spellbound at the Global Genes conference in California where he detailed his journey from losing his sight as a teen-ager to competing in ultramarathons and overcoming many obstacles in between.
course and applies course feedback from the app about his pace and distance. Now, with so much experience running solo, he has adapted to various courses and uses the app less often.
Simon, who is 35, said he believes his feelings of freedom and independence from running solo “far outweigh any anxiety over dangers. My successful footsteps must be something like 99.999%, and there’s just that one every now and again that goes wrong. I try to concentrate on the millions that go right rather than the 10 or 15 that go wrong.”
Simon taught all of us at this exceptional conference the power of pushing through and endurance, lessons that can help all of us in overcoming any adversity.
Enzo was born in 2014 in Lausanne, Switzerland, with a clubfoot. He immediately received physical therapy, then a plaster cast for three months and one minor surgery.
His parents – Laura Steinbusch, a post-doctoral fellow researching the neuroscience of diabetes, and Merlijn Meens, a scientist investigating cardiovascular function – felt confident as they were reassured through medical literature and by doctors that in time their son’s left foot would be fine.
But there was more to come. At 3 months, as Enzo’s therapy for his foot progressed, something seemed wrong with his vision and his ability to focus. Doctors diagnosed him with nystagmus, a condition in which Enzo’s eyes involuntarily moved side to side.
An MRI showed normal brain development and then doctors did an electroretinogram (ERG), placing electrodes on his eyes to measure the electric response of their light-sensitive cells. Enzo also underwent Visual Evoked Potential (VEP) testing, a non-invasive exam that measures his entire vision system. Doctors fitted Enzo with glasses at 6 months and said the ERG and VEP results needed further study.
Enzo began rubbing his eyes, prompting people to ask Laura whether her son was tired or shy. A few months later, doctors diagnosed 10-month-old Enzo with Leber congenital amaurosis.
‘He is still our cheerful son’
“While walking home from this last doctor’s appointment, we were in shock, but after a while we realized that Enzo had not changed. He was still our cheerful son that likes to sing and cuddle,” Laura wrote in her blog for the Eye Association of the Netherlands.
“We wondered how we could raise Enzo as normal as possible and how we could help him discover the world. The solution turned out to be simple: We will not despair and (will) come up with creative solutions so he can participate in everything that this world has to offer.”
That Christmas, Enzo’s parents designed their holiday in a way that greatly fostered their son’s vocabulary, sensory and motor skills, exposing him to chickens on a farm, rocks and water at the beach and a mountain climb with a summit lunch of pancakes and omelets.
Also, for the first time he said, “Dad,” “Mom” and a version of his own name, “Echoo.”
Leber congenital amaurosis genetic diagnosis
Then, at 18 months, Enzo received the genetic diagnosis of LCA10-CEP290. LCA10 is a severe retinal dystrophy caused by mutations in the CEP290 gene.
Laura interviewed doctors about research on LCA10-CEP290, becoming an intense advocate and learning myriad facets of the genetics behind Enzo’s disease and the stakeholders at work to find a treatment. With global health organizations headquartered in the Lake Geneva region, Laura attended conferences, including a recent policy event about “the right to health” organized by Rare Diseases International. She learned that researchers in the International Rare Diseases Research Consortium are working toward their goal of all people living with rare disease to receive diagnosis, care and therapy within a year “of coming to subspecialty medical attention.”
“Big visions and great goals,” Laura wrote in her blog for wonderbaby.org. “It made me hopeful for a future with inclusive education for all our children, job possibilities for all our children, a quick diagnosis for new patients and maybe a treatment for improved vision.”
Singing, reading, taking the bus
At home, Laura and Merlijn initially did not have access to many Braille and tactile books for Enzo so they created their own. For instance, they brought to life a picture-book hedgehog by fashioning spines with nails and duct tape.
Laura now is working on a multilingual children’s songbook with songs in English, French, Dutch and German. She got the idea because Enzo easily learned new words in French or English through songs, especially when he already knew the song in Dutch. Two Dutch foundations said they want to help pay for part of the project, but Laura is still searching for funding and she is reaching out to ask whether anyone knows of groups she can contact for help in the United States, United Kingdom, Canada or Australia.
Enzo just turned 3. He loves playing with other children at nursery school and he is learning to be more independent. Also, doctors successfully treated his foot, with Enzo’s mom adding, “It was probably harder on us than on him.”
In September, he and his parents moved from Switzerland to their homeland, the Netherlands. “Enzo is doing very well,” Laura said. “He loves listening to music, singing, reading books, everything that has to do with movement. He adores taking the bus, the train, the metro, the cable car, a bike ride…
“One of his favorite sentences nowadays is ‘What is that?’ (something he heard) or ‘Who is that?’ (someone talking), meaning that he is really curious.”
Read more stories of families living with LCA on our blog.
