A rare approach for a rare disease

By Kristina Meek
November 23, 2011
2

People who care about curing disease can be very creative in finding ways to raise money for research. Whether someone raises money and awareness by walking 60 miles, growing a mustache, or spending $50,000 on a pair of novelty sneakers, people’s passions fuel research funding.

The family that owns Salon Gianna, a beauty salon in Bakersfield, California, is on a mission to find a cure for Congenital Disorders of Glycosylation (CDG). All of their proceeds are earmarked for The Rocket Fund at Sanford-Burnham, which is overseen by Dr. Hudson Freeze. CDG is actually a group of more than 30 rare diseases caused by inherited defects in glycosylation, the process cells use to coat proteins with sugars. Young patients have a broad spectrum of clinical problems often including developmental delay, serious intestinal and liver complications, clotting defects, eye, skin, and other defects. Dr. Freeze’s lab seeks to treat and cure these diseases, often working closely with the families of affected children.

The salon is named for the family’s daughter, Gianna, who was diagnosed with CDG at age two. Gianna appeared perfectly healthy at birth, but began having seizures at six months old and was initially diagnosed with epilepsy. She was unable to eat or drink by mouth, and had difficulty breathing, low muscle tone, and severe developmental delays. Doctors did not expect Gianna to survive past age five.

Today, at age eight, Gianna is surpassing her doctors’ expectations. A number of different therapies including hyperbaric oxygen, feeding therapy, intensive suit therapy, and physical therapy, together with determination and hard work, have helped in her progression. Gianna still has intractable seizures daily, but can now eat and drink without the aid of a feeding tube.

“She is constantly reminding us that anything is possible and to never give up,” Gianna’s family says.

A grand opening was held on November 4 to introduce Salon Gianna to the community. In attendance were Dr. Freeze and the parents of John Tyler “Rocket” Williams III, for whom The Rocket Fund is named. (Little Rocket lost his battle with CDG in 2008.) The Mayor of Bakersfield, Harvey Hall, cut the ceremonial ribbon. Afterward, a reception was held that raised $700 to start the momentum on what will be an ongoing and spirited fundraising effort.

Dr Freeze says, “Gianna’s parents, David and Natalie, have shown such confidence in us. It’s very humbling  and we are so grateful. What love these parents show—it certainly inspires us.”

If you are in Bakersfield and find yourself in need of a haircut, massage, or manicure, you can find Salon Gianna at this physical location or on the web here.

To learn more about CDG and what advances are being made in the field of glycobiology, you may wish to attend our Third Annual Rare Disease Day Symposium on February 24, 2012, or continue to follow our blog for coverage of the event.

 

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Kristina Meek

Kristina was a Sanford-Burnham Communications staff member.

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2 Comments

  1. As ever your photographs look nnitsung Robert, always a bonus after all your hard work on the day. Kim & Tony look positively glowing, can’t wait to see the rest of the album. Look forward to working with you again soon!!AnabelEvent ManagerCreeksea Place

  2. Carla Asteggiano on

    Hola Carla! buscando la dirección postal de Pearce, me encontré con este artículo sobre el Dr. Freeze y un paciente con CDG.
    Un beso, Romina

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