Rare Diseases

Updated:   4/9/2015
Contains:  27 items
This collection contains articles from Neurology Now on rare diseases. Sign up to receive an alert by email or RSS when new articles on rare diseases are added to this collection: Go to the "Collection Alerts" box in the right-hand column.

Snowball's Chance: Melissa Robillard wrote a children's book that teaches kids about her rare disease and how to overcome obstacles.

Wynn, Paul

Neurology Now. 13(4):10-11, August/September 2017.

Readers Like Me: A diagnosis of leukodystrophy inspired Melissa Robillard to write a children's

Sunna's Story: A powerful documentary charts the anguish—and hope—of families with children who have a rare neurologic disease.

Bolster, Mary

Neurology Now. 12(4):7, August/September 2016.

Neuro Film Festival: A powerful documentary about alternating hemiplegia of childhood wins the Grand Prize at the American Academy of Neurology's 2016 Neuro Film Festival.

Solving Medical Mysteries: The National Institutes of Health has created a network of medical centers dedicated to diagnosing rare diseases.

Shaw, Gina

Neurology Now. 12(1):8-9, February/March 2016.

This Way In: As part of the Undiagnosed Diseases Network, doctors help solve medical mysteries.

Conquering Chiari: A mother and daughter who both have Chiari malformation team up to support others living with the condition. Mom Agnes Starr, 42, shares the details.

Hiscott, Rebecca

Neurology Now. 11(6):11, December/January 2015.

Readers Like Me: A mother and daughter walk to conquer Chiari malformation.

Defeating a Rare Disorder: After two of their children died from a mysterious illness, Laurian and John Scott pushed to find the gene that caused it—and brought new hope to dozens of families.

Gordon, Debra

Neurology Now. 11(2):32-35, April/May 2015.

After two of their children died from a mysterious illness, Laurian and John Scott pushed to find the gene that caused it.

A Pipeline for Hope: Cracking the genetic code of childhood epilepsy.

Shaw, Gina

Neurology Now. 10(6):48-55, December/January 2014.

A national research consortium hopes to unravel the genetics of rare childhood epilepsies and find treatments for children like Natasha Fischer.

Child's Play: A six-year-old with hereditary spastic paraplegia keeps moving forward.

Stephens, Stephanie

Neurology Now. 10(6):36-39, December/January 2014.

Brianna Bernard has hereditary spastic paraplegia, a rare disease that causes weakness and stiffness in the muscles of the lower extremities. But the energetic six-year-old isn't letting the condition slow her down.

Agony and Arachnoiditis: Named after its inflammation of the brain's “spider” membrane, arachnoiditis is a rare, extremely painful condition that requires individualized treatment.

Debra, Gordon

Neurology Now. 10(5):22-29, October/November 2014.

After being diagnosed with this extremely rare and painful condition, Dawnelle Gonzalez found relief with individualized treatment.

Once Bitten: How West Nile virus invades the brain—and what you can do to protect yourself.

Paturel, Amy

Neurology Now. 10(4):32-37, August/September 2014.

Since West Nile virus (WNV) surfaced in New York in 1999, thousands of Americans have become infected from a simple mosquito bite. Around 20 percent of infected people develop fever, headaches, body aches, joint pains, and fatigue. For 1 percent of people, WNV infects the brain and spinal cord, causing serious symptoms. But prevention can keep mosquitoes at bay.

Reflections on Mother's Day: When I was born with spina bifida, my mother resisted “common sense” and kept me out of an institution.

Brennan, Michael J.

Neurology Now. 10(2):46, April/May 2014.

Born in 1949 with a rare form of spina bifida, Michael J. Brennan's prognosis was bleak. Thanks in large part to his mother, Brennan became a teacher, a nurse, and a father.

Going the Distance: Winning gold medals with tuberous sclerosis complex, Special Olympics athletes Ryan Groves and Steven Striegel show us the true meaning of strength.

Gora, Susannah

Neurology Now. 10(2):28-33, April/May 2014.

Special Olympics athletes Steven Striegel and Ryan Groves do not let tuberous sclerosis complex (TSC), a rare genetic disease, keep them from going for the gold. “I want people with TSC to know that even with the obstacles in your life, you can still do anything you set your mind to,” says Groves.

The Test of a Lifetime: Screening for rare disorders can save lives.

Paturel, Amy

Neurology Now. 9(5):23-27, October/November 2013.

For babies with one of the rare genetic disorders called lysosomal storage diseases—such as Krabbe or Pompe disease—early diagnosis and treatment are critical. Many infants with these diseases die before their second birthday. But the trajectory of these young lives could be dramatically different with a $1 test performed at birth.

Too Rare for Research? People with rare diseases often experience significant delays in diagnosis and access to few, if any, treatment options.

Paturel, Amy

Neurology Now. 8(2):29-33, April-May 2012.

An estimated 6,000 to 7,000 rare diseases—many of them neurologic—collectively impact nearly 25 million Americans. People with rare diseases often face greater difficulties than people with common diseases in locating experts, receiving an accurate diagnosis, and finding treatment options. Here, we explore the ways that people with rare diseases are pushing for more research and better treatments.