Introduction to Spinal Muscular Atrophy

Video

Dr. Darryl De Vivo provides an overview of SMA, including the cause and symptoms associated with SMA types I, II, III and IV

http://www.checkorphan.org/grid/video/introduction-to-spinal-muscular-atrophy-3

Originally created for Learn About Spinal Muscular Atrophy ( http://www.learnaboutsma.org/ )

TRANSCRIPT:

Spinal muscular atrophy is one of the most common neuromuscular diseases that affect infants and children primarily but adults as well. It is a rare disease, like many of the diseases that we deal with by definition, but within that context, it is really one of the most common. In fact, it’s the second most common autosomal recessive disease that we deal with, the most common being cystic fibrosis and such. But spinal muscular atrophy in fact is the most common genetic cause of death in infancy so it’s really a very serious condition.

FTD – Planning for Hope: Living with Frontotemporal Disease

Video

From co-producers Susan Grant, an FTD patient, and her caregiver Cindy Dilks, “Planning for Hope” captures some of the most brilliant and passionate researchers exploring early diagnoses for this rare disease.

Frontotemporal Disease or Dementia (FTD) has been misdiagnosed along with other neurodegenerative diseases that cause dementia in young people in their 40s, at the peak of their careers and in the prime of their lives.

Most importantly, families have stepped forward in this poignant documentary to share their heart-wrenching stories of perpetual grieving, amidst financial struggles and caring for their loved ones.

Sharing another aspect of hope, professionals explore financial and estate planning for FTD victims and their families.

Today, there is no single known cause, treatment or cure for FTD. However, the film provides hope for the future as science is moving at a fast pace.

This trailer introduces Frontotemporal Disease (FTD), a dementia second in prevalence to Alzheimer’s Disease.

You also may download a free eBook that accompanies this film, “Know the Early Signs of FTD” at http://www.slideshare.net/FTDPlanning… that will aid you in recognizing the early warning signs of FTD and show you how to approach getting a diagnosis.

Early detection matters.
Know the early signs of FTD.

Genzyme’s U.S. Field Team, helping patients with Rare Diseases

Video

Patients living with rare diseases can feel isolated and helpless. Members of Genzyme’s U.S. field team share how the company provides lifelong support for these patients through facilitating testing and diagnosis, providing educational materials, helping patients manage their treatment, and continually developing new therapies.

http://www.checkorphan.org/grid/video/genzyme-s-u-s-field-team-helping-patients-with-rare-diseases-2

Shanyna Isom Grows Nails Instead Of Hair Due To Skin Condition

Video

A rare skin condition is causing one 28-year-old woman hair to grow human nails instead of hair.

Criminal justice student Shanya A. Isom first saw signs of the condition in 2009, when she had an asthma attack that doctors treated with steroids. When Isom had an allergic reaction to the medicine, she developed bumps on her leg and her skin tone began to darken, the New York Daily News reports.

Memphis doctors attempted scores of treatments, for conditions ranging from eczema to staph infections. None were successful.

“They’ve tested me from A to Z, and everything was coming back negative,” Isom told WMC-TV.

In August 2011, Isom was admitted to John Hopkins Hospital in Baltimore, where doctors determined that her hair follicles were producing 12 times as many skin cells as hair cells. This meant that her hair follicles were producing nails, instead of hair.

The diagnosis, and subsequent treatment, has generated a slight improvement in Isom’s quality of life. “I couldn’t sit up, I couldn’t walk,” she told WMC-TV. “Now I can walk with a cane and sometimes I can walk on my own.”

But Isom’s symptoms have taken a toll on her finances. Her state-issued insurance does not cover her specialist care, and only covers five of the 17 medications needed to treat her symptoms. Her medical bills have already reached $250,000, the Daily Mail reports.

Isom, who says she is the only person in the world with her condition, has set up the S.A.I. Foundation to raise money to cover her bills and help others who may develop similar symptoms.

“If [my condition] means me dealing with this to help someone else, I’m willing to go through it,” she said. The foundation takes donations at all Bank of America branches.

Julie Flygare: Rare Disease Patient Advocates and Orphan Drugs

Video

For orphan drugs, the marketing strategy should include increasing awareness and education about the disease. This is a key mission for many rare disease advocacy groups. So in the orphan drug space, the best marketing has advocacy as a part of it. Siren invited a few rare disease patient leaders to attend the Rare Disease and Orphan Drug Leadership Congress in Philadelphia last week. We facilitated conversations around the topic of how biopharmaceutical companies can and should engage with patients.

Julie Flygare discusses living with narcolepsy with cataplexy, how she became an advocate and how she’s helped provide education to pharmaceutical company employees.