Eight years after receiving a life -destroying diagnosis, a New Jersey mother credits a new “amazing” medicine for stopping her illness in her tracks.
Raziel Green, 52, an active runner and mother of two, was diagnosed with a rare form of ALS in 2017.
The former retail manager first began to experience symptoms more than 10 years ago, when her legs began to feel severe during what would normally be a slight run, Green told the Fox News Digital during a camera interview.
“A couple of months later, I started fighting by going stairs to my house,” she recalled.
A few months later, when Green began to experience issues of balance and muscle loss, she decided to see a neurologist who told her she had nothing wrong with.
Knowing that the mother and her aunt were diagnosed with a rare form of ALS, Green pushed for more thoughts and tests. Only she saw a third neurologist who specialized in genetic diseases, which she was diagnosed with the superoxide gene dysmutase 1 (SOD1) and amiotrophic lateral sclerosis (ALS).
The disease, which is caused by mutations in the SOD1 gene, accounts for approximately 10% to 20% of ALS genetic cases and 1% to 2% of ALS sporadic cases, according to the ALS association.
Immediately after her diagnosis, Green learned about a clinical test in the General Mass for an experimental drug – Qalsody® (Tfesen), which is made of Biogen in Cambridge, Massachusetts.
The medicines are administered in the spine through a lumbar puncture every few weeks.
“He gave me the opportunity and I was lucky to be part of the trial,” she said.
“Knowing that we have the gene, I really wanted to do this not only for me and my family, but for others who have this form of ALS.”
Within four months, Green said she saw a “big difference”, and has not worsened since.
“I saw a neurologist and she compared notes from now seven years ago, and she can’t see anything that is different from the day I was diagnosed.”
Benefits and risks
Qalsody is specifically designed to treat the SOD1 form of ALS by reducing the toxic effects of mutations on the SOD1 gene, according to Timothy M. Miller, MD, PHD, Vice President of Neurology and Center Als Center at Washington University in St. Louis.
“About 20% to 25% of people with SOD1 ALS treated with Qalsody have shown not only slowing progress, but have had a completely prohibited progress or showed signs of improvement,” the doctor, who was not involved in Green’s Care, told Fox News Digital.
Dr. Thomas Purvis, a neurologist at the Institute of Neuroscience of the University of Virginia West, called Tofsen one of the “most interesting medicines” for Als in recent years.
While the benefits viewed during the 28-week trial period were “modest”, he said, patients began to appear and feel better for a long term.
“This is often the case in clinical evidence for chronic illness – the benefit is best evaluated when treated patients are followed for a longer period of time, so it is difficult to say when the medicine is recently released how much benefit we can expect to see for a long term,” Purvis, which was also not involved in Green’s care, Fox News told Digital.
“We can speculate that because the drug aims DNA, it can be curative if given quite quickly, but this evidence has not been performed yet.”
There have been some side effects that are seen in a small number of patients who have received qalsody.
“Approximately 7% of those treated with qalsody in the clinical test had serious side effects, including myelin (spinal inflammation), radiculitis (nervous pain), increased intracranial pressure and some others,” divided Miller with Digital Fox News.
Some rare effects included severe headaches, weakness and sensory loss, according to Purvis.
“Finally, we do not know the long -term consequences of decades below the line as we expose patients to these therapies, simply because they have not been as long as it is,” he added.
“However, the actual data seems to tell us that the therapies are secure long -term.”
Stephanie Fradette, Pharm.d., Head of the Biogen Neuromuscular Development Unit (Producer of Qalsody), noted that in Valora study in Phase 3, participants treated with Qalsody suffered a decrease in 55% of plasma neurophilament levels, a scorer, compared to a 12% increase in a comparison. treated with placebo.
“As we look at what else is for ALS research, our work at SOD1-ALS has shown that it is possible to slow down the devastating neurodegeneration that occurs in the disease,” Fradette told Fox News Digital.
“We are continuing to apply lessons from our latest SOD1-AALS research, as well as research we have done over the last decade, to help us bring safe and effective therapy to the broader ALS community.”
‘Hope to continue’
Green expressed her gratitude for the opportunity to get Qalsody, which is now approved by the US Food and Drug Administration (FDA) and is available to anyone diagnosed with this specific gene mutation.
EVEYRY 28 days, Green goes to take the medication.
Today, it is somewhat limited to its movement. She uses a full-time cane and a long-distance wheel chair-given that her symptoms are not worsened, green is still able to do much of the things she enjoys.
“I can still travel. I can still get up. I’m still independent in my daily activities,” she told Fox News Digital. “I still go to the gym once at a time when I am accompanied by someone.”
Green has also been able to participate in her children’s sports competitions, graduations and other milestones.
The medicines have given green – and other patients with the same gene – “I hope to continue,” she said.
“And it gives my children the opportunity to be tested and have this medicine as a preventive treatment,” Green continued. “That was the main goal for me – to stay steady by going forward after receiving treatment.”
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