Beacon Stories

Jul 12, 2021

Causes for Cures

The faces behind RP Hope, Save Sight Now, and Sofia Sees Hope are all immensely dedicated to their nonprofit’s missions. The inspiration behind these organizations is similar, but their story and commitment are uniquely personal.

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The faces behind RP Hope, Save Sight Now, and Sofia Sees Hope are all immensely dedicated to their nonprofit’s missions. These nonprofits all play a critical role in driving research finding treatments and cures for blinding retinal diseases. The inspiration behind these organizations is similar, but their story and commitment are uniquely personal.

The Foundation wants to thank each of these organizations for their collaboration and for using their individual journeys to advocate for blinding diseases. We are stronger together – as a community.

 


RP Hope: Cate Elam

Born in California and currently living outside of Amsterdam with her family, 18-year-old Cate lives a very active and adventurous lifestyle.

Cate was participating in a trans-national cycling tour from Amsterdam to Rome with her family when she first noticed seeing black spots in her vision. After the 28-day trek, Cate hoped the black spots would go away, assuming they were from sun exposure or dehydration from her long days of biking. But when the spots persisted even after she returned home, Cate went to see a local ophthalmologist. Expecting a simple explanation and just a prescription for eye drops to fix the spots, Cate ended up being referred to a specialist, where she was diagnosed with retinitis pigmentosa (RP) at the age of 16. With no known family history of RP and very few vision loss symptoms, the diagnosis came as a huge shock to Cate and her entire family.

Cate with her Dad and Brother

Cate with her dad and twin brother.

“At first, my diagnosis was very overwhelming, and honestly, I was just speechless,” says Cate. “Having the doctor tell me there are no next steps was the scariest part. The fact that there was nothing I could do felt extremely frightening.”

Feeling helpless, Cate and her family decided to be proactive and take next steps into their own hands. What started as a family meeting with her parents and twin brother, and notes on a napkin, has now evolved into their nonprofit called RP Hope.

Cate and her family founded RP Hope in 2020 to educate both the public and RP patients on the disease as well as raise funds for RP research finding treatments.

“The more time I’ve had since my initial diagnosis, the less scary it has become,” says Cate. “Starting our nonprofit has made it feel more digestible and manageable.”

When getting started, Cate’s family divvied up roles, and Cate was tasked with marketing, which involved naming their nonprofit. ‘Hope’ came to mind immediately for Cate.

“The word ‘hope’ was not chosen lightly,” says Cate. “My Grandma’s main philosophy in life was hope, so she was a big inspiration. I also feel very hopeful about the future of treatments and cures for RP.”

RP Hope hosted their first fundraiser in April 2021. The fundraiser was a virtual walk/run/bike that encouraged participants to find a unique location to take a picture with their race bib, which had a photo of Cate on it, representing her “seeing” the world. There were 400 worldwide participants from Nepal, Uzbekistan, the U.S., and more.

“Creating RP Hope has kept me motivated during the tough times,” says Cate. “Being diagnosed with a rare disease felt so isolating at first, but since talking with others who have RP, I’ve learned that they are still living their lives to the fullest, and that has given me a lot of hope.”

While Cate still has a lot of her vision, she plans to continue traveling and checking items off her bucket list. She was recently able to visit Morocco with her mom, a long-standing dream she’d had even before her diagnosis.

“My family and I have really embraced the ‘Carpe Diem’ mentality a lot more since finding out I have RP,” says Cate. “I just want to take advantage of the vision I currently have, so if there’s a beautiful sunset, I will hop out of bed or put my homework aside, that’s just what’s important to me now.”

 


Save Sight Now: Justin Porcano

Justin and Rosalyn Porcano welcomed their baby girl Lia into the world in March 2018. Shortly after her birth, Lia failed her newborn hearing test, diagnosing her with profound deafness. Luckily, Lia qualified and received cochlear implants a few months later. But in August 2018, Lia’s genetic testing results concluded that she was also going blind due to Usher syndrome type 1B with variants in the MYO7A gene.

The Porcano Family

The Porcano Family: Lia, Justin, and Rosalyn.

“Lia’s diagnosis was devastating,” says Justin. “It’s indescribable what it’s like to find out your daughter is going blind, and that looming feeling doesn’t fade.”

A few weeks after receiving the shocking news, Justin started researching applicable treatments for Lia, learning there are cures on the way, but that USH1B is more severe and progresses quicker than other types of Usher syndrome. Immediately feeling a sense of urgency, Justin and his wife Rosalyn knew they needed to be proactive and help.

“It didn’t make a lot of sense for us to try and run our own standalone nonprofit as parents of a young child with significant needs while simultaneously educating ourselves on Usher syndrome research,” says Justin. “So, we looked to partner with existing nonprofits, and couldn’t find anyone we aligned with until we found the Foundation Fighting Blindness.”

After finding the Foundation, Justin and Rosalyn started their organization, Save Sight Now. Their mission is dedicated to raising funds to support Usher syndrome type 1B (USH1B) and retinitis pigmentosa research. Branding themselves as a “mom and pop charity,” Justin and Rosalyn have been able to leverage their local North Bay Area community to raise awareness and funds but have also connected with others in the Usher syndrome community across the world.

“Taking action and starting Save Sight Now has been our coping mechanism,” says Justin. “As a father of a child affected, how can I not do everything I can. I have to be the one to learn and help. Parent-led organizations like ours are so important and can really drive the research.”

Lia smiling at a pumpkin patch.

Save Sight Now has been in operation for just over two years and has already raised just under half a million dollars. Their very first fundraiser was a crowdfunding video sharing their family’s story, which alone raised $200,000. In 2020, Justin and Rosalyn created a virtual event called Gift of Vision, which will be their annual event moving forward. Save Sight Now has also just launched a new evergreen fundraising campaign called USH Supporter Events, encouraging personal do-it-yourself (DIY) fundraising for their supporters.

In addition to managing Save Sight Now, Justin works full time, and his wife Rosalyn works part-time. Justin is also a member of the Foundation Fighting Blindness Board of Trustees. But despite their busy lives, they’ve both become extremely knowledgeable about USH1B research.

Justin has discovered and directly contacted many research leaders in the space. Dr. Shannon Boye, at the University of Florida, was one of the first researchers Justin got in touch with early on in his learnings, and now she’s very involved with Save Sight Now often acting as an educator and advisor.

“Letting these researchers know that the parents are behind them is extremely valuable in motivating their work to continue their efforts,” says Justin. “I don’t think enough parents realize that they matter and can make a difference.”

Justin and Rosalyn often feel like they’re in a race against time for Lia, but starting Save Sight Now has given them a glimmer of hope.

“Very encouraging research is advancing, but not quick enough,” says Justin. “The science is there, but the funding is not. Our money is going to promising research, and that’s what keeps us going. There are therapeutic treatments on the horizon, and we feel it’s our responsibility as parents to help these dedicated researchers cross the finish line any way we can.”

 


Sofia Sees Hope: Laura Manfre

Laura Manfre founded Sofia Sees Hope (SSH) in 2014 to provide support and networking opportunities for individuals and families affected by Leber congenital amaurosis (LCA), a group of rare, inherited retinal diseases that cause severe vision loss in young children.  The thriving nonprofit also raises money for the research and genetic testing programs of the Foundation Fighting Blindness.

Of course, LCA and launching a nonprofit were the furthest things from Laura’s mind when she was eight months pregnant with Sofia, who would be diagnosed with LCA two years later. But at the time, there was another huge distraction: Her two-year-old son, Dante, needed an emergency liver transplant.

Sofia and Laura

Sofia and Laura Manfre.

“Sofia was born in chaos,” Laura recalls. “We didn’t know Dante’s disease, nor did we know how long he had it.” Fortunately, Laura’s sister, Cristina Manfre, was able to donate part of her liver to Dante, and he made it through the ordeal.

“We were so consumed with whether Dante would live or die, we at first didn’t fully understand Sofia’s vision problems,” says Laura. “We just thought she needed glasses.” But between the ages of two and four, Sofia developed strabismus (crossed eyes) and nystagmus (involuntary eye movements), so the family realized her vision problems were serious.

Initially, the family was told that Sofia could possibly have a brain tumor or other serious neurological condition, so she had an MRI and was seen by a neuro-ophthalmologist. But it was Ann Fulton, MD, at Boston Children’s Hospital, who performed an electroretinogram (ERG) to determine her retinas’ sensitivity to light, and that led to the LCA diagnosis.

Determining the mutated gene that was causing Sofia’s LCA was also a long journey that included sending her blood off to labs in Philadelphia, Iowa, and Estonia, but it was Eric Pierce, MD, PhD, at Mass Eye and Ear, who determined in 2012 that it was IQCB1. That news caused further trepidation for the family because mutations in that gene can also cause end-stage kidney disease.

“That news was like getting struck by lightning twice,” says Laura.

In the meantime, the family became involved in the Foundation for Retinal Research (FRR), a nonprofit for LCA families started by David and Betsy Brint, which in 2017 merged with the Foundation Fighting Blindness. David Brint is now the Foundation’s chairman.

In 2013, under the auspices of FRR, Laura’s family and friends held a local ballet fundraiser in Mystic, Connecticut, through the company that was giving Sofia lessons. Impressively, they brought in $50,000 for research.

“People, even some I didn’t know, came out from the close-knit, Mystic community,” recalls Laura. “LCA is a rare disease, and most people didn’t know much about it, but they opened their hearts and their wallets.”

That success, and the desire to raise more money and support for LCA families, led to the creation of Sofia Sees Hope (SSH) in 2017. SSH now employs four part-time consultants and has a network of hundreds of individuals and families.

“We decided to incorporate because we had so much momentum and support from the LCA and Mystic communities,” says Laura. “We are also very pleased to support the Foundation’s research and genetic testing programs. I joke that the Foundation is like our research department – they fund the research and communicate the science so well.” Laura joined the Foundation’s Board of Directors in 2020.

Among its many activities, SSH hosts an annual Dinner in the Dark, a family conference, and webinars.

“Running Sofia Sees Hope is a full-time job in addition to my full-time day job with Hewlett Packard Enterprise,” says Laura. “I work evenings, weekends, and days off.”

And, she is still a mom through it all, and all the kids are doing well. Sofia is starting college at Goucher in Baltimore soon, Dante is at Hofstra on Long Island, and their youngest, Luca, is 11 and busy with soccer and excited to start 6th grade.

Laura says that for those thinking about launching their own group or nonprofit, they need to think long and hard about the sustained energy and time it will take, the gap or the need that will be filled, and the skills and knowledge they can bring to the table.

“And, of course, you can’t do it alone,” says Laura. “It really does take a village.”