February 28th, 2017 6:30-9:30 PM @ Pelican Hill Resort
22701 S Pelican Hill RD, Newport Coast, CA, 92657
Join us for the Denim and Diamonds Fashion Show benefiting Global Genes, a rare disease patient advocacy organization. The evening will include cocktails, appetizers, and lots of fun advocating for rare! This will be a blue denim themed event. All the models in the show are walking on behalf of a loved one.
Perla Portillo, the organizer behind the fundraiser wanted to create an event that would be fun for the whole family.
“We decided to put together Denim & Diamonds Fashion Show to bring awareness to rare disease in Orange County. I wanted an opportunity to have some of the ladies who care so much for their loved ones, have a moment to shine,” said Portillo,”In this fashion show, we have ladies uniting with all different backgrounds. We have a special ed teacher, a therapist/counselor to kids with special needs, moms, step moms, aunts and sisters. Anyone that has a loved one with special needs we wanted in the fashion show. Anyone that cares about rare!”
Here are some of the models you’ll see taking to the catwalk!
“Katie was diagnosed with Cryopyrin Associated Periodic Syndromes (CAPS) at 14 months at Rady Children’s Hospital in San Diego. She has been on orphan drugs to control the symptoms of her autoinflammatory disease since she was 14 months old. Her disease affects roughly 1 in 1 million people in the United States,” says mother Julie Cunningham. ” My hope for my beautiful daughter is that they find a cure for her disease.”
“My name is Briana Vartanian. I’m 37 years old and I live in Newport Coast, California with my husband Dr. James Vartanian and my three children. “I will be walking in the Denim and Diamonds Fashion Show in honor of my oldest daughter Lola who has Phelan-McDermid Syndrome,” says Briana Vartania. As a parent advocate, my hope is to one day find a cure and see my daughter live a life free of pain, discomfort and judgement from others.”
” My family an I live in Newport Coast CA. I am walking on behalf of my oldest son Ryan who has severe MTHFR Deficiency & Homocystinuria due to the deficiency. His condition is very rare, only 50 cases worldwide have been reported” says Arezoo Namazi. “We don’t know the future, but we will face any challenges along the way.”
“Two of our daughters, Calyn & Ryann, live with Mitochondrial Complex I Deficiency, a rare genetic disease that affects their cerebellum. They have cognitive delays, struggle with motor control, and depend on adults for everything,” says Cristy Spooner. “My husband, Rick, and I love our beautiful girls with all of our being. We dream of a day when research can unlock the mysteries of this terrible disease, so that Calyn, Ryann, and other children like them can live happier, healthier lives.”
For more information on the Spooner Girls Foundation please visit http://spoonergirls.com/
“I am walking on behalf of my 3 year old son, Preston, who was diagnosed with Birk-Barel Syndrome. It is an ultra-rare genetic neuromuscular disease that impacts a potassium channel in the brain,” says Melissa Kelley. “It results in feeding difficulties, low muscle tone, and global developmental delays. I am also walking on behalf of the other 9 families in the world with loved ones with this syndrome. My hope for Preston is to live a happy fulfilled life in a world of endless love and kindness. We also hope to find an effective treatment.”
“We want what every parent wants for their child. To be happy, to love and be loved, to live a fulfilling and meaningful life.”
Rare diseases affect 1 in 10 Americans, 30 million people in the United States, and 350 million people globally. Over 7,000 district rare diseases exist and approximately 80 percent are caused by faulty genes. Approximately 50% of affected people are children. The need to eliminate the challenges of rare diseases is great!
Through Global Genes’ RARE Patient Impact Grant Program, support groups and non-profits have the ability to impact lives. The RARE Patient Impact Grant Program provides critical medical equipment, sensory equipment for children, sports programs and special outings for children with rare diseases, family therapy, and more. In 2016, over 17,000 patients and caregivers were given hope and had their challenges of living with a rare disease reduced through the grant program.
Three years ago, Perla and Jorge Portillo the organizers of this event, were blessed to be one of those families that received a Global Genes RARE Patient Impact Grant. Their daughter Alanis was able to get genetic testing because of the support of Global Genes. They are still undiagnosed and our on their way to finding a diagnosis for Alanis. There are many more, like Alanis, who still need help and we simply can’t do it without you. Your suppport will allow Global Genes to support a greater number of patients and will make a real, lasting impact in the lives of those in need.
To learn more about Global Genes click here.
Thank you to our sponsors and supporters!