Lysomal Acid Lipase Deficiency or LAL, A Rare Disease

Behind the mystery of rare & genetic diseases

Synageva believes every second counts when developing life-changing orphan treatments. Our current lead program focuses on enzyme replacement therapy for Lysomal Acid Lipase Deficiency or LAL. Tune-in to Lifetime Television’s The Balancing Act as this popular cable television show is joined by noted metabolic geneticist and physician, Doctor Olaf Bodamer from The University of Miami. This lively, informative segment explores and examines what’s being done for this debilitating disease – a condition which affects the liver and attack all age groups including newborn infants. This close-up and personal features two women – a mother whose daughter fought the disease and lost her battle, and a young woman currently battling LAL.


The Balancing Act


Focus on LAL Deficiency

This rare and genetic disease impacts all age groups, including newborns

Chances are you know one of the 1 in 10 Americans that have a rare or genetic disease.

Lysosomal Acid Lipase Deficiency, or LAL Deficiency, predominantly affects the liver and is a condition that can be fatal. It’s a disease impacting all age groups, including newborns.

Synageva’s lead development program focuses on enzyme replacement therapy for LAL Deficiency and believes every second counts when developing life-changing treatments.

Unfortunately, there tends to be a lack of awareness about LAL Deficiency:

• Regarding the disease’s severity

• It is often confused the other diseases such as NAFLD (Non-Alcoholic Fatty Liver Disease) due to common signs and symptoms

• Improvements in testing methods to diagnose the disease (simple blood test to test to enzyme activity)

• Clinical trials options for an investigational enzyme replacement (sebelipase alfa)

From the creators of The Balancing Act® comes the ground-breaking mini-series, “Behind the Mystery: Rare and Genetic Diseases launched November 19th on Lifetime TV. The goal of the series is to raise awareness of genetic conditions like LAL while helping to inspire Americans to take a more active role in getting to know and understand their genes.

Watch the segment on LAL on December 24th at 7 am ET/PT on The Balancing Act® Lifetime TV.

For more information, please visit: http://www.synageva.com or http://www.lalsolace.org/

How does a person get LAL Deficiency?

LAL Deficiency is an inherited condition. The gene that is responsible for telling the body how to make the LAL enzyme is not normal, and the LAL enzyme either does not work properly or is not made at all. Every person inherits two copies of the LAL gene: one copy from the mother and the other from the father. A person with LAL Deficiency has inherited one faulty copy of the gene from the mother and one faulty copy of the gene from the father. Having only one copy of the faulty gene does not usually lead to the disease, although the person with one copy of the faulty gene becomes a carrier of the disease and can pass on the faulty copy to their children. When both parents are carriers, there is a 25% (one in four) chance with each pregnancy that their child will have LAL Deficiency.

How is LAL Deficiency diagnosed?

Abnormalities that you may have, and that would make your doctor think of late onset LAL Deficiency (Cholesteryl Ester Storage Disease) includes:

• Increases in liver enzymes (transaminases: AST and ALT)
• A high cholesterol and high triglyceride level
• A high ‘bad’ cholesterol (LDL)
• A very low ‘good’ cholesterol (HDL)
• A larger than normal liver due to fat accumulation

LAL Deficiency is often unrecognized because many physicians have not had experience with this condition. The diagnosis begins with your physician taking an interview and history, conducting an examination and ordering preliminary lab tests. Your physician may look for or ask about the following liver conditions:

• Unexplained hepatomegaly (liver enlargement)
• Elevated liver enzymes (a marker of liver damage)
• Unexplained fat or lipid material in the liver
• Unexplained chronic liver disease that may be getting worse over time

Some common diseases that resemble LAL Deficiency and may lead to a missed diagnosis are:

• Infectious causes such as viral hepatitis
• Metabolic Causes such as Non Alcoholic Fatty Liver Disease (NAFLD) or Non Alcoholic Steatohepatitis (NASH)
• Autoimmune liver disease (where the body’s immune system damages liver cells)
Other clues that may help your physician make the diagnosis of LAL Deficiency are:
• Low normal HDL, especially very low HDL
• Short stature
• Enlarged lymph nodes
• An enlarged spleen

These observations are less common in patients with other liver diseases and, therefore, are important clues that may point your physician to a diagnosis of LAL Deficiency.

Once your physician thinks about the possibility of LAL Deficiency as a cause of your medical problems, he or she may order a confirmatory test such as an enzyme assay (leukocyte or a dried blood spot) or a genetic sequencing analysis. The enzyme assay measures the level and activity of the LAL enzyme or genetic sequencing helps to identify whether you have a genetic mutation that is consistent with LAL Deficiency. LAL Deficiency is a progressive disease that results in damage to the liver, spleen and other internal organs. LAL Deficiency potentially leads to fibrosis, cirrhosis, liver failure and death. An accurate diagnosis is the first step toward getting control over the serious long term and often life-threatening complications of this disease.


The Balancing Act® Talks LAL on Lifetime TV

FOR IMMEDIATE RELEASE

Media Contact:
Pam Steele-Unger
O2 Media, Inc.
pamela@o2mediainc.com
(954) 691-1102

The Balancing Act® Talks Restful Sleep, LAL, Healthier Recipes, Skin Secrets for the Holidays on Lifetime TV

BarnDad Nutrition, Ultimate Creations, Synageva, Natrol, Ben’s Pure Maple Syrup Take Center Stage on Upcoming Show

(Pompano Beach, FL – November 15, 2012) Popular morning show The Balancing Act® welcomes some of the hottest names in super foods, beauty and health to their show airing on Monday, November 19th at 7:00 a.m. (ET/PT) on Lifetime TV. Make sure to watch as hosts Danielle and Kristy help jump start the day with animated conversation, lively demonstrations and great innovations to balance and empower a women’s life.

Don’t miss this line-up taking center stage on The Balancing Act®:

• Soothing and Hydrating Skin with Aloe from Ultimate Creations – Well-known beauty Cleopatra used Aloe to keep her skin looking radiant. Now you can benefit from the healthy and soothing effects of Aloe with InfiniteAloe Skin Care. Join Ultimate Creations’ Kim Hickok and Lisa Savage as they talk to viewers about women’s skin care and the “conditions” that affect our skin – from lifestyle to diet to outdoor elements like the sun, wind and cold. InfiniteAloe is so multi purposed – from using it for diaper rash to wrinkles – that it makes the case for cleaning our all those products you no longer use or that don’t work! For info on how to replenish your skin, visit http://www.infinitealoe.com.

• The Power of Fiber with BarnDad Nutrition – Mr. World, bodybuilding champion, celebrity trainer and BarnDad spokesperson David Hawk joins the show to talk about the power of fiber. Fiber is good for us and our kids, but are we getting enough into our daily diets? Hawk packs the segment with good-to-know information, myths and fun facts about fiber, and showcases BarnDad’s Ultra Fiber DX™ — a supplement that provides high quality fiber and high protein with no sugar. Viewers will see how BarnDad’s Ultra Fiber DX can be used as a flour substitute in recipes or blended into smoothies and shakes to boost fiber intake. To learn more and for recipe ideas, please visit: http://www.barndadnutrition.com

• A Restful Night’s Sleep with Natrol – So many people toss and turn during the night and have trouble sleeping – about 1 in 5 adults. A full 8 hours of uninterrupted sleep is recommended to feel energized, but it’s often hard to achieve. Don’t be another tired face in the crowd! Sherry Torkos, a Holistic Pharmacist and Author, joins us with some tips and solutions to help get you through the night – peacefully! And learn more about the natural sleep aid – Natrol Melatonin. Melatonin, a hormone found naturally in the body, helps reduce stress in a natural way. It all adds up to a good night’s rest. You won’t want to sleep through this show! Learn more at http://www.natrol.com.

• Learning about LAL Deficiency with Synageva Biopharma – Do you know someone affected by a rare disease? This show is part of the series “Behind the Mystery: Rare and Genetic Diseases.” Hear the heartfelt story of a mom who lost her baby to LAL (Lysosomal Acid Lipase) Deficiency and another of a teen currently battling it. LAL Deficiency is an inherited metabolic disease that predominantly affects the liver. Synageva’s lead development program focuses on enzyme replacement therapy for LAL Deficiency. Noted metabolic genetics doctor Dr. Olaf Bodamer from The University of Miami will explain what’s being done for this debilitating disease, and how every second counts when developing life-changing treatments. To learn more visit: http://www.synageva.com.

• Beyond Breakfast with Ben’s Pure Maple Products – How many ways can you use maple syrup? Find out when culinary expert Chef Chris Paul joins Kristy in The Balancing Act® kitchen to show viewers the versatility of maple syrup — from drizzling on ice cream to using as a glaze on carrots, to making a “mapletini” drink. Viewers will also learn fun facts and health benefits about this surprising “Super Food.” Discover more ways to use all of Ben’s Maple Products here: http://www.BensMapleSyrup.com.

The Balancing Act® on Lifetime Television
Celebrating its 5th season, “The Balancing Act®”, America’s premier morning show airs weekday mornings on Lifetime Television at 7:00 am (ET/PT). These days modern women are trying to balance it all and the mission at “The Balancing Act” is to bring solutions to our viewers to help them balance life, career, family and most importantly themselves. “The Balancing Act®” is a Branded Entertainment show that entertains, educates and engages the viewer.

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