Starting in 2018, newborns in North Carolina will be able to undergo free screenings for genetic diseases. Although babies in America are tested for some genetic diseases, the screening doesn’t extend to all genetic disorders as the cost would be astronomical. Find out the answers to five of the most commonly asked…
In this inspirational video shared by Stories Lived, 30-year-old Santosh Shriyan and filmmaker Abhijeet Devadiga set out to make their film I Am A Winner. The filmmakers hope to portray people with disabilities in a more positive light, to help them realize their own potential and to not be bound by perceived limitations.
Jack Bolton is a 12-year-old Carolina Panthers super fan. He’s such a big fan that his parents arranged for Jack to be the team’s coach for a day back in 2013 (with some help from the Make-A-Wish Foundation, of course). Boy with SMA becomes Carolina Panthers coach for a day. ESPN reported that Jack…
This heartwarming video from Make-A-Wish Central & Western NC is all about eight-year-old Jack Bolton, who was diagnosed with spinal muscular atrophy (SMA) at birth. Having SMA doesn’t stop Jack from getting involved in the school football games at recess—the only difference is that instead of playing, he coaches.
This very moving short film from S Group is about six-month-old Nella. Nella has type 1 spinal muscular atrophy (SMA), a rare and fatal genetic disorder. Learn more about the faulty gene responsible for spinal muscular atrophy. Her parents, Grace and Baron, talk about how devastated they were when Nella was…
https://vimeo.com/140555319 In this video from SOSAVY, 17-year-old Melanie Tran talks about what it’s like living with type 2 spinal muscular atrophy (SMA). Melanie explains that she’s currently taking on the Australian Duke of Edinburgh award, which is a scheme for teens and young adults to work towards goals and…
Physical therapy and rehabilitation programs are vital for the ongoing care of spinal muscular atrophy (SMA) patients. Many of the exercises can be done in the home by the caregiver and others will need trained physiotherapists to assess the progression of the disease.
SMARD1 or spinal muscular atrophy with respiratory distress syndrome is a rare genetic motor neuron disorder affecting less than 200,000 infants in the U.S. It is an extremely serious condition that (without a ventilator) only has a life expectancy of 13 months. Two cases of SMARD1 in India highlight the…
Many people assume that palliative care is just for the terminally ill who only have a few weeks left to live, but that’s wrong:Â palliative care if for anyone who has an illness which cannot be cured. What’s it like living with a degenerative condition? Two patients tell their stories.
Often the first sign of spinal muscular atrophy (SMA) is infants failing to meet development milestones such as supporting their heads, rolling, crawling, etc. This is usually highlighted by the parents or primary care doctor during routine assessments. If babies aren’t meeting their milestones then they will undergo various tests…
