LCA Family Conference: IRD Milestones

Hope in Focus (formally Sofia Sees Hope) is holding its first LCA Family Conference on Saturday in Groton, CT. This event is the culmination of our first five years of work and fulfills our mission to connect LCA patients and families to researchers, industry experts and others who are keenly interested in LCA and and rare inherited retinal diseases.

The goal of this conference is to provide updates about advances in research, deepen understanding of the roles various organizations play in developing treatments, and provide insight into how an active patient community can support and accelerate treatment.

We are pleased to welcome Dr. Brian Mansfield, Senior Vice President of Research with Foundation

Fighting Blindness, who will speak on “IRD Milestones: Reasons to Be Excited.”

Mansfield joined the Foundation Fighting Blindness a little more than seven years ago and, while he was excited about his new job, he lamented the absence of therapies for genetic eye diseases.

Dr. Brian Mansfield

For years, affected people were told: “Go home and learn Braille; there’s nothing we can do for you,” he recalled. But the foundation was committed to changing that message.

A mere seven years later, the treatment landscape for inherited retinal diseases (IRDs) has changed dramatically, with multiple clinical trials offering patients hope and improved vision. When FFB started 47 years ago in 1971, researchers were just at the very start of understanding the complexities of IRDs and had little knowledge about the genetics of the diseases.

Now, Mansfield said, more than 260 genes are involved in these diseases, and probably more. “We’re learning about the genetics of the diseases all the time.”

As Senior Vice President of Research, Mansfield implements the foundation’s scientific research strategic plan and leads scientific assessments of new technologies, treatments and therapies for retinal degenerative disease. He also leads the My Retina Tracker patient registry team and the foundation’s genetic testing study.

“The challenge for me is to see how we can try and continue this program,” he said. “It’s a very expensive program. It’s a very valuable program.”

People registering take an active role in advancing research to find treatments and cures for specific rare inherited retinal diseases, affording the opportunity to join others and “stand up and be counted.”

The foundation’s expanded testing program, helped in part by a $65,000 donation from Sofia Sees Hope, came soon after the Food and Drug Administration’s December approval of LUXTURNA™, which treats people with Leber congenital amaurosis (LCA) and a mutation of the RPE65 gene. Developed by Spark Therapeutics and decades in the making, LUXTURNA is the first genetic therapy for an inherited retinal disease and the first genetic therapy for ANY inherited disease in the United States.

“I’m optimistic about how the field has changed so dramatically, from a lack of knowledge of what causes retinal disease, to actually have a treatment. This has really been a rapidly changing and exciting time.”
Mansfield said he hopes continued successes will one day bring treatments and cures for all retinal diseases.

“We’re committed to soldiering on, to drive research, to get those solutions for everyone,” he said. “It’s a big job, but if people aren’t pushing for it, it doesn’t move.

“It takes time to get there, but it does happen. It takes lots of money and research and the role of our foundation is to make sure we can maintain that momentum.”

Dinner in the Dark 2018 Live Auction

Dinner in the Dark‘s live auction is like no other! With charming master auctioneer Mike O’Farrell to guide you, our committee has gathered amazing experiences, travel, and more! Get your bidding arm in shape!

FROM KIM’S KITCHEN TO YOURS!

What’s better than receiving a little piece of Southern California on your doorstep once a month for a whole year? Kim’s creations have won multiple awards and each month she will send you a package valued between $35 and $45 of seasonal jams and treats that will have you waiting by the mailbox. From homemade blueberry or cherry jams to Cherry Garcia cookies and more, this is a gift that keeps on giving, all year long!

Details: Kim will mail a package to you anywhere in the continental U.S. One package per month, for 12 months. Pick up the first month’s gift tonight, or let us know and we will mail it to you.

Value: $500

Donors: Kim Christiansen

MORE MYSTIC MARRIOTT: DINNER, OVERNIGHT STAY AND THE RED DOOR

EXPERIENCE FOR TWO

Come back another night to enjoy dinner at the award-winning Octagon restaurant along with an overnight stay and a little pampering for you both at The Red Door Salon & Spa.

Details: Reservations are required by calling 860-326-0320. Non-transferable and non-extend able. Not valid for cash. Dinner not to exceed $200 value. Gratuity not included. May be redeemed Sunday through Friday nights, based on availability. Certain restrictions and additional blackout dates may apply. Must present certificate upon arrival.

Value: $550

Donor: Mystic Marriott, Octagon Restaurant, Red Door Spa

CRUISIN’ ON MAMIE, OUR FAVORITE LOBSTER YACHT

Your private cruise on board Mamie begins from the dock at scenic Mystic Seaport Museum. From there, the boat cruises down river to Noank and Fishers Island Sound. Once in the Sound, why not have a picnic lunch anchored off a secluded beach followed by a swim? Or, you could tie up alongside a restaurant and get a traditional New England lobster lunch followed by shoreside explorations. You choose the adventure.

The cruise is available to a group of six or fewer guests, and you get the whole boat to yourself for four hours. BYOB food and drink is encouraged! The boat provides a cooler with ice and water to keep drinks and food cold. They also have all the eating and drinking utensils you may need including bottle openers and wine coolers. Mamie has a below-deck area that includes a head (bathroom).

Details: Charters available June 1, 2019, through Columbus Day 2019 and may be booked directly with Mystic Seaport Museum. Dates and times based on availability.

Value: $600

Donor: Mystic Seaport Museum

“TEARDROP” BY JEFFREY P’AN

Bring home a little bit of Mystic and a little bit of Murano with this beautiful original piece created by American glass artist Jeffrey P’an. This 11-inch tall purple teardrop was created in 2018. The teardrop was created using a combination of traditional glassblowing techniques combined with Jeffrey’s modern twist. Jeffrey P’an studied in Murano, Italy, and founded Prescient Studios in 1994 upon his return to Mystic. Today, Jeffrey’s work can be found in all corners of the world, and Studio Jeffrey P’an is a design house, artist’s workshop, and factory in the tradition of the factories of Murano.

In addition to Jeffrey’s one-of-a-kind sculptural work, all manner of glass-related work is performed—from jewelry making, to cut crystal, to glassware and repairs of historical pieces by an expanded team of apprentices and specialists. The winner may take home this gift tonight, or Studio Jeffrey P’an will ship this piece free of charge to your home.

Value: $650

Donor: Jeffrey P’an

DIRECT FROM MIKE’S WINE CELLAR

Look what we took from Mike’s wine collection! Valued at more than $1,000, this package includes:

2012 Caymus Vineyards 40th Anniversary Cabernet Sauvignon ($240)
2009 Louis Roederer “Cristal” Brut Champagne ($200)
2012 La Castellana Super Tuscan Blend ($125)
2013 Williams Selyem “Bucher Vineyard” Russian River Valley Pinot Noir ($100)
2009 VinRoc Napa Valley Atlas Peak Cabernet Sauvignon ($90)
2010 Clos de L’Oratoire Saint – Emillion Grand Cru Classe ($75)
2003 Chateau Raymond – La Fon Sauternes ($65)
2012 Jordan Alexander Valley Cabernet Sauvignon ($55)
Moet & Chandon Imperial Brut Champagne ($42)
2004 Faustino I Gran Reserva Rioja ($40)
2007 La Rioja Alta Vina Ardanza Reserva Rioja ($30)
2011 Portia Ribera del duero Crianza Tempranillo ($28)
2013 Bourgone Passetoutgrain Cuvee Desite Burgundy ($18)

Details: Dirty old wheelbarrow and flashing police light not included.

Value: $1,100

Donor: Michael Mondello – Former SSH Director

SIMPLY MAJESTIC PRESENTS

This exquisite three-piece set from Simply Majestic’s Classic Designer series includes a sterling silver double circle pendant, matching hoop earrings and a cuff bracelet. The pieces are a woven style with simulated diamonds.

Details: This gift is donated exclusively to Sofia Sees Hope and no cash, credit or exchanges are permitted in the store.

Value: $1,100

Donor: Simply Majestic

MIXOLOGY WITH A MASTER

Party for six people

A unique educational opportunity to warm you this winter! Two-time James Beard Award winner and Master Mixologist Dale DeGroff, also known as King Cocktail, will come to your home and teach a party of six how to mix the perfect punch, eggnog, and a winter cocktail. Includes one of Dale’s books on mixology and a bottle of his aromatic bitters made in France. Dale is a Lifetime Achievement Award recipient from Food & Beverage magazine and the Founding President of the Museum of the American Cocktail. He is credited with re-inventing the bartending profession, setting off a cocktail revival that continues to flourish.

Details: Winner is responsible for purchasing liquor and providing food for guests. Mixology party dates are subject to availability between January 1, 2019, and December 1, 2019, and must be mutually agreed upon and confirmed at least six weeks in advance. Dale will travel just about anywhere in the world, but the winner is responsible for Dale’s travel and lodging expense beyond a 50-mile radius of the Mystic Marriott or Nassau, Long Island.

Value: $3000

Donor: Dale DeGroff, King of Cocktail

ESCAPE TO ANTIGUA

Seven nights for up to four people

Enjoy this getaway to Antigua in the British Virgin Islands, where crystal waters lap more than 360 white sand beaches and ocean breezes carry the scent of jasmine and hibiscus. This getaway is for up to four people in a beautifully decorated two-level waterfront villetta in Jolly Harbor. It’s an easy stroll from your home for the week to all the exceptional restaurants, nightlife, beaches, weekly sailing regattas and access to land and water sports.

The villetta is newly renovated and features two bedrooms, 1.5 baths, open floor plan on the main level with a fully equipped kitchen, and a large terra cotta patio overlooking the water and boat docks. Perfect for outdoor dining and watching the sunset.

Details: There is no expiration date on this gift and the winner may postpone travel until any year in the future. No blackout dates. Dates are based on availability.

Value: $2,400

Minimum bid: $2,000

PARK CITY, UTAH IN SNOW OR SUN (OR BOTH!)

Seven nights for up to seven guests

Park City lies east of Salt Lake City in Utah. Framed by the craggy Wasatch Range, it’s bordered by the Deer Valley Resort and the huge Park City Mountain Resort, both renowned for incredible skiing.

Stay in Park City Parks Edge, a new luxury three-bedroom, three-bath condo that sleeps up to seven guests! This 1,671-square-foot property features a top-floor large master bedroom suite with a king bed, a large private bathroom with stone shower, soaking tub, and dual vanities. It offers great mountain views and private decks overlooking the mountains and surrounding open space. Across the road is the community clubhouse with pool table, full kitchen for entertaining, a large outdoor hot tub, a community pool, a well-equipped workout room. It’s an easy drive to ski, hike, mountain bike, or stroll the historic downtown for shopping and dining!

Details: This is for a seven-day rental from Saturday to Saturday. The owner is flexible if other days are required. Blackout dates include December 24 to January 1. Expires June 1, 2020.

Value: $2,000 to $3,000+ based on season

Minimum bid: $2,000

CARIBBEAN VILLA IN MONTSERRAT

Seven nights for six guests

Montserrat is a small, tranquil island described as the “best-kept secret of the Caribbean.” Unwind in a villa with three king-sized bedrooms, a private outdoor pool, outdoor terrace with dining area overlooking the ocean. Located in Salem, Montserrat, the area is known for its black sand beaches, coral reefs, cliffs, and shoreline caves to explore. For the more adventurous, visit the Montserrat Volcano Observatory, schedule a guide (we recommend “Sunny”) to visit the restricted side of the island, or hike up into the mountains. For lunch, ask John for the best roti on the island—tell him Laura sent you. In town, you can enjoy local bars and restaurants, snorkeling, scuba diving, sailing, motor boats, and shopping.

Details: This package includes a seven-night, eight-day stay. Dates are subject to availability. Blackout dates include Thanksgiving, Christmas, and New Year holiday weeks. Travel must be booked within 12 months and traveled within 24 months.

Value: $4,300

Minimum bid: $3,500

UNDER THE TUSCAN SUN

Seven nights for four guests

Situated at the top of two ancient Tuscan hills are the Etruscan towns of Pitigliano and Manciano, both with breathtaking views in all directions. This package includes seven nights of accommodations for four people in Manciano or Pitigliano, Italy, located 1.5 hours north of Rome on the southern edge of Tuscany. You may choose from among more than six different villas. Wondering how much fun this is or need pointers on the area? Ask any of the four couples who won this before and gave rave reviews!

Details: There is no expiration date on this gift and the winner may postpone travel until any year in the future. No blackout dates. Dates are based on availability.

Value: $4,550

Minimum bid: $2,500

‘As A Doctor, You Will Never Forget’

Transforming laboratory research into real-life therapy for patients is a rare occurrence.

But when it does happen, it’s big. Huge, in fact.

Ask Dr. Audina M. Berrocal, the pediatric retinal surgeon who performed ground-breaking retinal surgery in March on 9-year-old Creed Pettit. Creed lived with severe vision loss caused by a rare inherited retinal disease (IRD) called Leber congenital amaurosis (LCA)* manifested by a mutation in his RPE65 gene. At the time of his treatment, he was the nation’s youngest patient to receive it.

Dr. Berrocal’s surgery at Miami’s Bascom Palmer Eye Institute on the third-grader marked one of those extraordinary times when research goes from clinical to surgical – from bench to bedside.

“It’s one of those honestly amazing moments in medicine,” she said. “Things that you think you are never going to see and here I am, doing it. As a doctor you will never forget.”

Dr. Berrocal, Dr. Byron Lam (who diagnosed Creed at age 2½ with LCA), and a surgical team, removed the vitreous, a gel-like substance attached to the retina’s surface – though Creed’s vitreous was thinner than normal – before administering the medication – LUXTURNA™ – a genetically engineered virus that supplanted Creed’s mutated RPE65 gene with healthy versions of the gene.

“The challenge is to lift the retina with the medication,” she said. “Detaching the retina, especially of a child, is pretty hard to do. We are looking through microscopes and special equipment that makes seeing the retinal layers easier, but it’s still challenging.”

Working with two syringes filled with the medication that is viable for only four hours, Dr. Berrocal said she could not find the right subretinal space to inject the treatment with the first syringe. She then successfully injected LUXTURNA with the second syringe.

“With the first case, everything is new,” she said of the surgery, which took about an hour. “The second eye, everything went smoother, quicker and faster.”

‘Science that revolutionizes medicine’

“It’s extraordinary,” she said. “It makes you feel you are on the brink of a new area of science that is going to revolutionize medicine and eradicate disease. This truly is the brink of an era of gene manipulation and gene therapy.

“To be living this as a physician is really, really unique and special.”

Before the surgery, Dr. Berrocal trained with people from Spark Therapeutics, LUXTURNA’s developer, to learn about the drug’s pharmacology and to train in the knowledge of the surgical process. This genetic treatment came to fruition after decades of research and millions of dollars, followed by approval by the Food and Drug Administration in December.

“The viral vector provides the correct gene that you need,” she said of the medication’s delivery system. “The concept can be used for any gene and I think this is truly the beginning of a revolution of genetic manipulation.”

Soon after the surgery, Creed enjoyed improved vision.

“We never expected it to change so quickly. I don’t think anyone was expecting it.”

“No one believed it,” she said when Creed’s mother, Sarah, reported two days after the surgery that her son’s vision dramatically improved.

No one except Dr. Berrocal.

“The thing is, people do not always believe mothers, but as a mom myself, I will tell you that no one knows a child better than mom. If Creed’s mom is saying that Creed never walked around with such little light before, then it’s true.”

A family tradition

Given her background, Dr. Berrocal being at this point in her career seems a little unsurprising. Her father, Dr. Jose Berrocal, trained with Dr. Charles Schepens, a Belgian ophthalmologist known as the father of modern retina surgery.

Her father became Bascom Palmer’s first trained retina specialist and the first such specialist in Puerto Rico. Dr. Berrocal’s older sister, Dr. Maria H. Berrocal, became a retina specialist and practiced with their father. Both women turned to medical school after graduating with degrees in political science and realizing politics wasn’t for them.

Dr. Berrocal, now 51, has two daughters and one son with her physician husband. She grew up helping her dad in the office, as ophthalmology was part of the family. She is now medical director of Retinopathy of Prematurity Services at Bascom Palmer and professor of Clinical Ophthalmology at the University of Miami.

Asked whether her sister was jealous of her doing breakthrough surgery, Dr. Berrocal laughed and said, “She’s very proud of me.”

Dr. Berrocal’s father always told her she’d end up doing something with kids, and she sealed the deal working under a mentor dealing with pediatrics and retinas in her 2002 fellowship at Bascom Palmer in Vitreoretinal Diseases and Surgery.

“I truly like kids more than I like adults. They’re honest, sincere, concrete. You can never lie to them; if you do, you lose their trust forever.”

Empowering children

Dr. Berrocal respects Creed, listened to him and talked to him as an adult. She said he wasn’t interacting during their first meeting in January. Over time, she won him over by caring about what he wanted and needed, especially the little things. Creed didn’t like having the ID band on his wrist, so she took off the band and he felt better.

“He’s much more comfortable with me now,” she said. “It makes it really special.”

“They have to feel that they’re part of the process. It’s their body and it’s their eyes. I think empowering kids to be part of the process, taking in their feelings and their emotions, directing the conversation to them – that’s essential to make it work.”

Dr. Berrocal, as with most retinal specialists, is much more used to seeing children lose their vision and become blind.

“One of the most important things for me in this process has been watching a kid regain vision. This was a kid who couldn’t do things. He’s seeing the world in a different way. That is so powerful and so overwhelming. We cannot forget the importance of getting him ready for something so overwhelming.

“Learning to see again is hard emotionally. We have to somehow have these kids talk about it, how different their lives will be. How to guide them through it…We have never reversed the road to blindness before.”

Dr. Berrocal sees Creed for check-ups and more, confiding: “I can’t separate.”

Looks like that won’t be a problem for the surgeon – when she retires she knows Creed will be at the party.