After noticing that her daughter was unable to crawl, stand, or do the things her friend's children were doing at six months of age, Idalmis decided that it was time to seek help. Sure enough, after some consultations and genetic testing, Idalmis' gut feeling was right. Her baby girl, Gianna, was diagnosed with spinal muscular atrophy type 2 (SMA2), a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, progressive muscle weakness develops in babies with SMA2 between ages 6 and 12 months.
At the time, there was no known cure for her condition. However, earlier this year, the U.S. Food and Drug Administration (FDA) approved Zolgensma, a proprietary gene therapy from AveXis and Novartis – the most expensive drug on the market to date. The one-time IV infusion of Zolgensma is a treatment option available to patients at a cost of $2.125 million.
As of recently, SMA has been added to the list of newborn screening recommendations in the United States, so that it can be detected prior to symptoms developing. Hope for SMA patients is not lost, and Idalmis is set on doing everything possible for Gianna to be able to achieve the milestones that any child her age can.
Patients like Gianna deserve access to the best therapy and medicine available. Help pave the way for SMA patients by fighting along with us today!