Katherine Kraines, Author at Hope in Focus

My Friend Luca: Balancing Hope and Reality

Three-year-old Luca Corso’s preschool teacher announced that everyone should quickly sit on their floor shapes for carpet time. As the other children eagerly scattered to their assigned spots, Luca wandered. He wasn’t being disruptive—he just wasn’t sure what to do. Even with glasses and a cane, he couldn’t locate a flat shape on the floor. Luca’s vigilant parents, Blair and John Corso, along with his early intervention team, got involved, and the preschool quickly provided him with a small chair for carpet time.

Diagnosis Shock

Luca was diagnosed with the recessive AIPL1 gene mutation that causes Leber congenital amaurosis 4 (LCA4) when he was about 14 months old. According to the Foundation Fighting Blindness, this rare but severe form of LCA affects “only a few hundred people in the US and less than 10,000 people globally.” The news was devastating to first-time parents, Blair and John, and almost unbearable when they were told that their little boy would likely lose all of his vision by age four.

A Ray of Hope

The family was given a ray of hope after hearing about a new LCA4 treatment developed by MeiraGTx that showed efficacy in a trial involving 11 children in the United Kingdom (UK). The therapy, which uses a human-engineered adeno-associated virus (AAV) to deliver copies of the therapeutic gene into remaining photoreceptors, has not yet been approved for use in the UK or the United States. If successful, the treatment could restore some of Luca’s vision.

Hoping beyond hope that the treatment becomes available before Luca turns four, the Corsos know that his window of opportunity is rapidly closing. Another potential hurdle is the cost. “Not only does the treatment require approval, but we don’t know the cost, since the trial would no longer fund it,” Blair said.

Balancing Emotions

For Blair, the news of the UK trial’s success was at once wonderful and disheartening. “I saw one of the boys who had the treatment and spoke with his mother,” she said, choking back tears. “After the treatment, he could see facial expressions. It would mean everything if Luca could experience that too. When I read stories about the children treated, it struck me that being able to see things like that could really help Luca interact with us and his peers.”

The Diagnostic Journey

When Luca was born, the Corsos were living with Blair’s parents while they searched for a house. It was then that they first suspected something was wrong with Luca’s vision. “My Dad kept wondering why Luca’s eyes were going back and forth so much,” Blair said. “Was it normal?”

The pediatrician was also concerned about their four-month-old son’s eye movements (nystagmus) and quickly referred Luca to a local eye doctor. After confirming Luca’s vision loss but seeming less worried about the nystagmus, the eye doctor referred the family to Mays Al El-Dairi, MD, a pediatric ophthalmologist and neuro-ophthalmologist at Duke University Eye Center.

“Dr. El-Dairi examined Luca and mentioned the possibility of LCA and recommended genetic testing with Ramiro Maldonado, MD, a retinal specialist at Duke,” Blair said. Dr. Maldonado arranged the genetic testing and wanted to do an electroretinography (ERG), a diagnostic test that measures the electrical activity of the retina. But Luca needed to be at least a year old to have the ERG.

Test Results

“Luca was about 14 months old when the ERG was done, and it showed that he had about 50 percent of his vision. The genetic test indicated LCA4, and Dr. Maldonado said that our toddler would likely be blind by age four,” said Blair. “It was a very rough day. John was at home sick, our dog had just died, and my mother and I were in the surgery waiting area, bawling our eyes out.” Luca was Dr. Maldonado’s first case of LCA4.

Help!

Like all parents hearing an LCA diagnosis, the Corso family was desperate for more information and support. They immediately began looking on Facebook, where they discovered Hope in Focus (HIF). Through HIF, they started connecting with the LCA community, and Blair was paired with an HIF Ambassador, Ashlyn, whose young son has LCA10.

“I can pick up the phone or shoot a Facebook message to her, and I don’t have to explain things,” Blair said. “It’s wonderful to have the support, especially when you don’t know what you are doing. If I have a question, Ashlyn offers input or helps me reach out to someone else. It’s like a big family of support, and it’s so encouraging to know that other children with LCA are thriving.”

Early Intervention

Early in Luca’s diagnostic journey, the local eye doctor suggested pursuing ‘early intervention’ due to his vision loss. Unsure what ‘early intervention’ meant, the Corsos learned more about it and reached out for help, a decision that would prove crucial in Luca’s journey.

The Corso’s live in North Carolina, where early intervention is available through the state’s Children’s Developmental Services Agencies (CDSAs). “They sent some people out to talk with us about LCA, and there was an actual team involved. We had a caseworker, a vision teacher, and an orientation and mobility coach,” Blair said. “They were fantastic in guiding us about how to teach Luca and helping him keep on track with his learning.”

Blair stressed the importance of accessing early intervention and said, “Our CDSA team visited us before Luca was in preschool and worked with him at least once a week. When he began preschool, the team went there as well, helping the teacher to understand his needs, such as where to position him so he could see in the classroom.”

The team also conducted many in-home learning sessions. “They suggested different things to support Luca in school and at home. His occupational therapist recommended that we help him learn how to move to songs so he wouldn’t stand motionless while his classmates danced,” Blair said. “You know, it’s not always obvious or intuitive for parents to know what to do!”

One of his vision teachers, Ms. Charli, created a book for his preschool called “My Friend Luca,” which explains that Luca’s eyes don’t work well and that he uses his hands to see the world. “It helps other children understand why Luca might want to hold their hand or reach out and touch their face,” Blair said.

There were also monthly trips into the community with his orientation and mobility coach, Ms. Annette. “We went to the strawberry patch, the grocery store, and Lowe’s,” Blair said. “We did normal things so she could observe him in public—such as how he navigated with his cane.”

Luca’s current mobility and orientation coach, Mr. Mike, is the past president of the Maryland School for the Blind and a member of the local school system that now serves Luca’s needs. “Mr. Mike is just amazing!” said Blair. “He focuses on learning through play and wants Luca to think of him as a fun grandpa. He even got Luca to sit on the swing, which he was terrified to do.”

Luca holding his cane and walking next to his grandfather

Going Forward

The Corso’s attended this year’s Hope in Focus Family Conference for the first time and found the information and variety of speakers very helpful. Meeting other families with children who have LCA was supportive, especially those dealing with the same gene mutation and its consequences.

Blair and John recommend that parents seek early intervention resources for their child with LCA and be open to help. They hold out hope that the treatment in the UK might become available for Luca while continuing to prepare him for a future where he is blind.

For now, the couple finds great joy in their little boy and his “can-do” spirit, delightful personality, and bright, engaging mind. They have and will continue to ardently advocate for Luca as he walks into the future surrounded by their unending love and support.

Information on the treatment for LCA4: https://www.fightingblindness.org/news/lca4-gene-therapy-restores-meaningful-vision-for-blind-children-1861

Through the Eyes of Love: Just James!

Caitlin and Greg Smith eagerly looked forward to the birth of their fourth child, who would complete their busy family of two girls and a boy. Caitlin’s pregnancy was unremarkable, and the family excitedly welcomed baby James in June 2023. But when he was about two months old, the couple noticed that James wasn’t visually tracking as they had expected. “His eyes were closed much more than our other children, and I remember thinking that was odd,” Caitlin said. “He also wouldn’t lock eyes with us or look directly at objects or our faces.” Worried, the Smiths took James to their pediatrician, who wasn’t overly concerned given his age but suggested seeing a pediatric ophthalmologist.

A Diagnosis

Unfortunately, the ophthalmology exam revealed that something was wrong. “The doctor noticed pigmentation in his macula and mentioned it could be a number of things but recommended that James be seen by a retinal specialist at Boston Children’s Hospital,” said Caitlin. “The doctor did a clinical exam and, based on seeing degeneration in the retina, diagnosed James with Leber congenital amaurosis (LCA). It was a terrible shock. We knew nothing about inherited retinal diseases or LCA.”

The next step was genetic testing, which revealed James had LCA9, caused by a mutation in the NMNAT1 gene. Greg and Caitlin were also tested, and their results verified that James’ LCA was inherited and not the result of a random mutation. “Just knowing what we were dealing with was a big milestone,” Greg said. “But we needed to know where to go from here.”

After learning that many children with LCA9 are born with no light perception or severe vision impairment, they were encouraged that James appears to be on the better end of the spectrum. “We know he has light perception, can see colors, and has some functional vision. Sometimes, he appears to track people or large objects, but it’s hard to know if it’s because he’s hearing or seeing something,” Caitlin said.

Finding Support, Getting Educated

Immediately after the diagnosis, the Smiths dedicated themselves to researching and understanding all they could about LCA and visual impairments. “As a parent, you always want what is best for your child, and to think about and create what would be best for him, we needed to educate ourselves,” said Caitlin. As they searched LCA online, Hope in Focus popped up. “The day we got the
clinical diagnosis, or maybe a day later, we found Hope in Focus,” Greg said.

Several days later, Greg spoke with Courtney Coates, Hope in Focus Director of Outreach and Development, who provided him with family and research connections and a high-level review of the current treatments and technologies relevant to LCA9. “It’s hard to put into words how impactful it was to get this diagnosis and to be able to go online and get connected to a community of people that could hear our story and help,” he said. “Having Hope in Focus was incredible for us as we began this journey. It makes such a difference knowing you’re not alone. We are forever grateful to Laura, Courtney, and the rest of the Hope in Focus team.”

Courtney also connected the Smiths with another Hope in Focus family whose son had LCA9, which Caitlin said provided an “awesome jumping-off point for connecting to other families with the same mutation.” They’ve also found other LCA9 families in the US and abroad through social media.

Through recommendations from Hope in Focus and via their research, the Smiths began reaching out and networking with people researching and developing potential treatments. “Getting more involved with the research community has been very helpful, and as a family, we are very focused on helping to advance a treatment for James and others with LCA9,” Greg explained.

In James’ case, early-stage preclinical work has been conducted on a potential gene therapy treatment for the NMNAT1 mutation, with promising results in mouse models. “With these rare diseases, taking a traditional path to treatment development is very challenging given the economics involved,” said Greg.

Living Life

His parents describe James as outgoing, adventurous, fearless, and a ball of fun who is always smiling and laughing. “His siblings are totally in love with him,” said Caitlin. Now, James is just another sibling rather than a sibling with a vision impairment.”

Greg said that he and Caitlin dealt with James’ diagnosis in different ways. It was more challenging for him to accept the vision impairment, and his mind went to all of the things that his son might not be able to do that his siblings could do. “I think Caitlin did a much better job internalizing all of that,” he said.

Caitlin said that she turned her grief into action by focusing on the next steps, such as identifying and arranging for therapies. “It felt like a blessing that our life is so busy. There wasn’t time to sit around and be depressed or in shock—instead, I focused on James’ immediate needs and how we could best support him and give him an amazing life, just like our other children. I didn’t want him to be treated any differently from other kids. We will not allow his vision to define him, but we will make sure he has every opportunity every other child has,” she said.

Daily life at the Smiths is essentially divide and conquer. Greg works at an investment firm and has taken the lead in researching the disease and potential therapies in his spare time. Caitlin is a stay-at-home mom who is incredibly busy with the three older children’s sports schedules and James’ physical, occupational, vision, and speech therapies. They have gotten involved with the NAPA Center in Boston, which offers specialized coaching and therapies for children with disabilities, and they attend a weekly baby group at the Perkins School for the Blind. They feel lucky and thankful for access to excellent resources and support nearby. “It’s been incredible to see how much James has grown and all the milestones he has accomplished. In certain areas, he is more advanced at this age than our other three were,” Caitlin said.

James currently sees three different doctors, including a local eye specialist who used to work at Boston Children’s Hospital. He also goes to Boston Children’s Hospital once a quarter, and there is a yearly trip to the Children’s Hospital of Philadelphia.

Regarding advice for other LCA families, Greg and Caitlin said it may seem overwhelming initially, but everything will be okay. “I struggled with the diagnosis for a while. But now we’re at a place where we feel like James is not our child with LCA. He is just James!”

Hope in Focus Joins the Denise D’Ascenzo Walk to Fight Rare Diseases

Hope in Focus, a nonprofit 501(c)3 rare disease advocacy organization based in Ledyard, Connecticut, is partnering for the first time with the Denise D’Ascenzo Foundation Walk to Fight Rare Diseases taking place on Saturday, April 27 at 10:00am at Quinnipiac University in Hamden, Connecticut. To contribute to, or walk with Hope in Focus, visit https://runsignup.com/hopeinfocus.

The 2-mile walk kicks off at 10:00 a.m. The registration fee to join the walk is $30. Participants can register the day of the event, or in advance online. Participants may also join to walk virtually and JB Sports will mail a shirt and bib to them.

As a participant in this event, Hope in Focus will receive 50 percent of the registration fees and 85 percent of all additional fundraising from donors to help support its mission of outreach to the Leber congenital amaurosis (LCA) and rare inherited retinal disease community.

“We’re excited to join the Denise D’Ascenzo Foundation in raising awareness and funds for rare diseases. As a small organization supporting a rare community, it is challenging to reach our community, supporters, and to host events of this magnitude. This walk makes it possible for all of us representing rare diseases in Connecticut to band together, making it easier and fun to raise awareness of rare disease issues in general, while raising funds for our individual causes,” said Hope in Focus Director of Outreach and Development Courtney Coates.

“Today 95 percent of all rare diseases still lack an FDA-approved treatment and only one in two have a research or rare disease group to support them. It’s a tough journey for organizations like Hope in Focus and we are grateful to the Denise D’Ascenzo Foundation and JB Sports for creating this opportunity for us to come together. We welcome anyone who can join us, virtually or in-person, or with a contribution of any amount,” said Coates.

The event was established by the Denise D’Ascenzo Foundation, dedicated to supporting advances in medicine and health, promoting responsibility in the media, and assisting those facing physical and mental challenges, while encouraging openness, courage and kindness in all endeavors.

Hope in Focus founder Laura Manfre and her son Luca will participate in the event. Because the zebra symbolizes rare diseases, Luca will wear a zebra suit as he walks. Manfre’s daughter Sofia was diagnosed with LCA as a child and was the motivation for founding Hope in Focus. Today, the organization serves a global community of families and individuals living with this rare blinding disease through community outreach, education, and funding to advance treatments. Website to register or donate: https://runsignup.com/hopeinfocus