Editor’s Note: We believe that patients are a key part of developing and leading the conversation in disease communities. Patient Worthy sometimes partners with reputable agencies that wish to speak with patients about opportunities related to their diagnosed conditions. These opportunities can include activities such as sharing stories with other patients or health professionals about their diagnosis journey or recording video testimonials. To learn more about how to get involved with an opportunity for neurofibromatosis patients, click here.

When Lauren Geier was first born, she had some markers of a possible genetic disease. But it wasn’t until she was 18 months old that doctors diagnosed her with a rare form of neurofibromatosis called NF1 microdeletion syndrome. While Lauren, who is now 13, has faced some health and interpersonal struggles over the years, her parents say that she remains a bubbly, spunky young woman. 

A rare disease diagnosis can often come with challenges including a general lack of public awareness and the need for funding to advance research. Geier’s parents began Links for Lauren, a golf fundraiser, 10 years ago to change this.

Through the fundraiser, her family hopes to not just raise awareness of what neurofibromatosis is, but to fund cutting-edge research. As reported by Channel 3000, this year’s event took place on August 12—and Lauren’s family could not be more thrilled at what it has accomplished over the years. In its 10 years since founding, Links for Lauren has raised and donated more than $500,000 to the University of Wisconsin – Madison Biotechnology Center’s neurofibromatosis research team.

Learn more about Links for Lauren here. 

About Neurofibromatosis type 1

So what is neurofibromatosis? Neurofibromatosis refers to a set of rare genetic disorders that cause tumors to form on healthy nerve tissue. While these tumors are often benign (non-cancerous), they can sometimes become malignant (cancerous). Tumors may also form on the skin or bones. 

There are three subtypes of neurofibromatosis: type 1 (NF1), type 2 (NF2), and schwannomatosis. Lauren’s rare form, NF1 microdeletion syndrome, results from NF1 mutations and a deletion of genetic material on her 17th chromosome. In addition to the NF1 gene, the Children’s Tumor Foundation explains that people with NF1 microdeletion syndrome also typically have other deleted genes in the same area. Additionally, this syndrome is often characterized by a more severe presentation of symptoms. The condition may manifest in:

• Cafe au lait spots on the skin
• Scoliosis
• Learning and developmental delays
• Hypotonia (low muscle tone) 
• Aortic stenosis
• Hypertrophic cardiomyopathy
• Hypermobile joints
• Widely spaced eyes
• Tiny bumps on the irises
• Multiple neurofibromas on/under the skin