NORD Establishes First Patient Organization for the One in a Million People Living With Lipoprotein Lipase Deficiency
The LPL Deficiency Association Is the First Organization Established as Part of NORDs RARELaunch Initiative
(firmenpresse) - DANBURY, CT -- (Marketwired) -- 10/14/14 -- The National Organization for Rare Disorders (NORD) has established the first patient organization dedicated to those living with the very rare genetic disease, lipoprotein lipase deficiency (LPLD), which affects approximately one in a million people. The LPL Deficiency Association™ was formed to provide support, education and awareness for people living with LPLD, their families, caregivers, and medical professionals.
"Until now, people with LPLD haven't had a central resource to access information about their disease or find support services," said NORD Chief Operating Officer Pamela Gavin. "With the launch of this new organization, we hope to build a strong, accessible community where LPLD patients, their families and caregivers can share, network and learn."
The LPL Deficiency Association website provides educational materials and support resources for patients and healthcare providers, on topics such as genetic testing, diagnosis and treatment, clinical trials, patient assistance programs, and tips for managing LPLD. Additionally, there is an online community forum where patients can connect with one another and find support. Facebook, Twitter and LinkedIn pages have also been created to encourage community engagement and help generate more widespread awareness.
People with LPLD have very high triglyceride levels and have a deficiency of the enzyme lipoprotein lipase, an enzyme that clears fat from the blood. Symptoms can greatly reduce a patient's quality of life and can include recurrent abdominal pain, fat-filled bumps on the skin known as 'eruptive xanthomas' and attacks of acute pancreatitis. There are currently no FDA-approved treatments for this disease.
People like Kimberly Kuchler, who lives with LPLD and has become an advocate for people with all kinds of rare diseases, know too-well how difficult it can be to deal with a rare disease diagnosis. "I knew nothing about the disease and never expected stomach pains to trigger an eight-month living nightmare that almost killed me," said Kimberly. "After my diagnosis in June 2014, I knew I had to help others like me. Not just with LPLD but with all rare diseases who often feel lost, alone and vulnerable. I'm thankful this resource is out there for others with LPLD."
The LPL Deficiency Association was developed as part of NORD's RareLaunch™ program. RareLaunch™ was established to help disease-specific communities form, grow and flourish to assist with efforts to raise awareness, advocacy, research, patient support, and innovation. The program provides a multi-disciplinary approach to establish patient organizations, in addition to developing and disseminating educational materials and resources for the entire community.
"There are 7,000 rare diseases, most of which people have never heard of, and the vast majority have no approved treatment options," said Gavin. "Many of these diseases are chronic and life-threatening and have a significant impact on those affected by them. At NORD, we continue to look for new ways to bring much needed attention to these rare diseases and to ensure that patients have access to the care and support they deserve."
LPLD is a classified as a rare disease as it affects fewer than 200,000 people. In fact, LPLD is extremely rare as it impacts one in one million people. Most cases are diagnosed during childhood before age 10 with approximately 25 percent diagnosed before age one. In other cases, the rare disease may not be identified until adulthood.
People with LPLD have very high triglyceride levels and have a deficiency of the enzyme lipoprotein lipase, an enzyme that clears fat from the blood. Symptoms can include recurrent abdominal pain, fat-filled bumps on the skin known as 'eruptive xanthomas' and attacks of acute pancreatitis.
There are no FDA-approved treatments for LPLD. Currently, patients are treated by dietary restrictions of fats to manage their symptoms.
The LPL Deficiency Association™ is the national patient organization dedicated to improving the lives of patients with Lipoprotein Lipase Deficiency (LPLD) by providing support, education, awareness, and advocacy to help patients access accurate and timely diagnosis and treatment.
Founded in 1983, NORD is a non-profit organization providing programs of education, advocacy, research, and patient services including patient assistance programs. Follow NORD at , on and on Twitter .
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Datum: 14.10.2014 - 12:30 Uhr
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