Niemann Pick Disease Group - Washington

Niemann-Pick Disease Group: A Dedicated Charitable Organization

The Niemann-Pick Disease Group operates as a dedicated charity committed to supporting individuals and families affected by Niemann-Pick Disease (NPD), a rare and complex genetic disorder. This organization provides crucial resources and advocacy, aiming to improve the lives of those living with this challenging condition. Currently located at Address: Vermont, Washington NE37 2SQ, United Kingdom, the Group’s central purpose revolves around research, patient support, and raising awareness of NPD.

Understanding Niemann-Pick Disease

Niemann-Pick Disease is a group of inherited metabolic disorders that affect the movement of lipids (fats) within cells. There are three main types: Type A, Type B, and Type C, each characterized by distinct symptoms and progression. The underlying cause lies in defects in specific genes – predominantly the NPC1 and NPC2 genes – which impact the cell’s ability to process and transport cholesterol and other lipids. This disruption leads to the accumulation of these lipids in various organs, including the liver, spleen, and brain, causing significant damage and a range of debilitating symptoms.

Types of Niemann-Pick Disease

• Type A: Primarily affects young children and is often the most severe. Symptoms include enlarged liver and spleen, neurological problems such as developmental delays, ataxia (loss of coordination), and dementia.
• Type B: Typically manifests later in childhood or adolescence. Symptoms can vary widely, but often include neurological problems, liver dysfunction, and bone marrow failure.
• Type C: Can appear at any age, with symptoms ranging from mild to severe. Neurological symptoms are prominent and can include dementia, seizures, and movement disorders.

Diagnosis of NPD can be challenging due to the rarity of the disease and the variability of its presentation. A combination of clinical evaluation, biochemical testing (measuring lipid levels in blood and urine), and genetic testing is typically required to confirm a diagnosis.

The Role of the Niemann-Pick Disease Group

The Niemann-Pick Disease Group plays a multifaceted role in supporting the NPD community. Their activities include:

• Research Funding: They actively support research initiatives aimed at developing new treatments and a cure for NPD. This involves awarding grants to researchers and collaborating with scientific institutions.
• Patient Advocacy: The Group advocates for increased awareness of NPD and works to improve access to diagnosis and treatment. They represent the voices of patients and families, lobbying for policy changes and raising awareness among healthcare professionals.
• Family Support: Recognizing the immense emotional and practical challenges faced by families affected by NPD, they offer a range of support services, including counseling, educational resources, and peer support groups.
• Awareness Campaigns: The organization conducts awareness campaigns to educate the public about NPD, dispel misconceptions, and encourage early diagnosis.

Practical Information and Accessibility

For those seeking information or support, the Niemann-Pick Disease Group offers the following:

• Phone: 1914150693
• Website: (Currently no website available)
• Accessibility: The organization prioritizes inclusivity and offers several accessibility features, including a wheelchair-accessible car park and a wheelchair-accessible entrance at their location.

Currently, the Niemann-Pick Disease Group has 0 reviews on Google My Business, highlighting the need for individuals to share their experiences and provide feedback. This underlines the importance of community engagement and continued growth.

The Group's commitment to providing comprehensive support and driving research advancements makes it a vital resource for the NPD community. Despite the lack of a prominent online presence currently, their dedication to patient well-being remains steadfast.

Specialties: Charity

Location: Vermont, Washington NE37 2SQ, United Kingdom