Advocacy Spotlight: SOLACE organization for LAL Deficiency
MAY 22, 2016
The SOLACE organization is a nonprofit group dedicated to increasing shared knowledge about lysosomal acid lipase deficiency (LAL-D). It provides a venue for patients and their families to share experiences, knowledge, and compassion.
About LAL Deficiency
LAL-D is a rare condition with a wide spectrum of disease manifestations, affecting roughly 1 in 50,000 people. Because of a genetic mutation, an enzyme called lysosomal acid lipase is present in low amounts or not at all. This enzyme normally helps process fats inside the body’s lysosomes. In LAL deficiency, these fats begin to build up within the cells and tissues of the body.
Symptoms vary based on the amount of enzyme that is present. If no enzyme is present, symptoms begin in the first year of life. The body becomes malnourished due to the inability to use fats properly. The liver and adrenal gland become damaged. The infantile version is also known as Wolman disease. In the past these infants have died within a year unless they received a stem cell transplant.
Children and adults with small amounts of enzyme develop similar problems later in life, including severe liver disease and atherosclerosis related to elevated levels of cholesterol and fats. This form of the disease is also sometimes called cholesteryl ester storage disease. In either form of LAL deficiency, the misdiagnosis is common, and is often not obtained for several years.
In December of last year, the FDA approved the first effective treatment for LAL-D, sebelipase alfa. The treatment replaces the malfunctioning LAL enzyme. With it, the prognosis for LAL-D patients is better than ever before. Without enzyme replacement, many adults with LAL-D do not live a full life span due to complications of their disease.
About LAL SOLACE
LAL SOLACE is a nonprofit organization supporting patients, families, and healthcare providers who treat LAL deficiency. SOLACE stands for Support Organization for LAL Deficiency--Advocacy, Care and Expertise. The organization is centered out of Harvest, Alabama.
The patient forum is one of the key features provided by LAL SOLACE. Brett Billmeyer is the moderator for the patient forum, and he himself is a patient with LAL deficiency. In an interview with RDR, he explained why providing this informative and interactive site is so important. He contrasted his own experience looking to learn more after his diagnosis. He explained, “When I went on the internet there wasn’t anything on LAL deficiency. Everything that was on the internet was all gloom and doom . . . It was pretty stressful for me and my family.”
In contrast, LAL patients and family members can now network with others, sharing and learning from their varied experiences. Members can share about laboratory tests, their experience on treatments, and any many other topics.
The organization also provides a variety of educational resources. These include basic information about the disease, ongoing clinical trials, LAL-D treatment centers, upcoming webinars, and related resources.
In the RDR interview Billmeyer also shared his experience about how he responded to enzyme replacement therapy, which he began in 2011 as part of a clinical trial. He has been on the therapy since that time, and he said, “The results have been amazing.” With LAL SOLACE as a point of shared information and with the new availability of enzyme replacement, a diagnosis of LAL-D is much less daunting than it was only a handful of years ago.
Below is the complete interview with Brett Billmeyer explaining LAL deficiency and the sometimes arduous journey in getting a proper diagnosis.