Photo: Peter and Marla Ramirez. Source: KBTX-TV.
Many researchers and medical professionals today are constantly striving to better the opportunities for those diagnosed with a variety of diseases and conditions. As time has progressed, these treatments have improved in their effectiveness, especially as those in the medical world begin to better understand all of the nuances that come with the various diseases existent today. This may very well be the case for a treatment by the name of Spinraza, a drug released in the later months of 2016 that helps to slow the progression of muscular dystrophy.
The drug itself is said to help treat a specific type of muscular dystrophy known as Spinal Muscular Atrophy. A news story that followed the effect of the drug on a boy in Texas by the name of Peter Ramirez tells of his experience with the drug. The 16 year old was first diagnosed with spinal muscular atrophy when he was only 7 months old.
Doctors had initially told his mother, Marla Ramirez, that her son Peter would only live until the age of 2, yet has lived more than 10 years past what was expected. Peter’s family attributes this to Spinraza, as well as the support and research funded by a variety of organizations focused on aiding in the future cure of muscular dystrophy.
The drug Spinraza may provide key insights into the future treatments to be used in slowing the progression of the various types of muscular dystrophy. Peter Ramirez and his experience with the treatment show great potential as to how the treatment works with patients diagnosed with the condition.
When asked about the treatment, Peter’s mom said, “We call it liquid gold… Immediately, we saw the progression stop. He started breathing better on his own because he sleeps on a ventilator. His cough got stronger, his voice got stronger." Although the treatment has yielded positive testimonials from the Ramirez families, it does not come without a large price. For the first set of doses, the cost of Spinraza is estimated to cost around a half a million dollars.
Each dose following that costs roughly $125,000. Aside from the cost, Peter’s mom says that the spinal injection once every 4 months has proved to be highly effective, in that it has prolonged Peter’s life. "We concentrated on quality and we said we just want to give him a quality of life, whatever that is,” stated Ramirez.
Spinraza became the first approved treatment used in specifically treating spinal muscular atrophy. The drug itself is able to treat this rare neuromuscular disorder by being administered directly to the central nervous system. This is done through the use of what is known as intrathecal injection. As the drug neared its acceptance for public use, the clinical trials yielded results of roughly 60 percent of infants affected by type 1 spinal muscular atrophy, showing signs of improved motor function. The trials showed clear evidence that the drug was helping to slow the progression of the disease. As is the potential case with any drug however, Spinraza does come with side effects. These are said to include an increased risk of blood clotting and a reduction in platelets, as well as potential for kidney damage.
Understanding muscular dystrophy and spinal muscular atrophy
Muscular dystrophy is a genetic disorder that includes several different types, but is summed up as a disease by which the body weakens over time, as the muscles progressively lose mass. The categories of muscular dystrophy include: Duchenne, Becker, Emery-Dreifuss, limb-girdle, facioscapulohumeral, myotonic, and congenital muscular dystrophy. The most common among these types of muscular dystrophy is Duchenne muscular dystrophy. This specific disease is most often seen in younger children, primarily males, but can be seen in other cases as well. As the disease worsens, muscles will begin to grow weaker, as well as cause a difficulty in breathing. This can also lead to trouble swallowing foods, requiring close care for the more severe cases of muscular dystrophy.
The initial stages of the disease are noticeable, but not as severe as it is in the later stages. At the earlier points of the disease, it is common for the muscles to begin stiffening, with a noticeable amount of pain as well. This part of the progression of the disease also brings with it frequent falls. Other symptoms experienced in the earlier stages of muscular dystrophy, specifically Duchenne muscular dystrophy, include a waddling gait (which is essentially an abnormality that stems from the incompetence of what are known as the proximal muscles of the pelvic girdle, resulting in the weakness of the gluteus muscles), difficulty with running and walking, walking on toes, difficulty with standing up or sitting down, as well as disabilities in learning, such as inhibited speech development. These symptoms are especially common with Duchenne muscular dystrophy, but can also be seen with Becker muscular dystrophy. The distinct difference between the two is that Duchenne muscular dystrophy is more commonly seen at younger ages, especially in children, whereas Becker muscular dystrophy is more prominent in patients in their mid-twenties or later.
As the condition progress into later stages, the muscles will then weaken at a faster rate, resulting in the inability to stand or walk at all. The subsequent symptoms include: a shortening of the tendons and muscles (resulting in more limited movement), more severe breathing problems, curvature of the spine, the weakening of the heart muscles, as well as more severe difficulties associated with swallowing.
The specific type of muscular dystrophy by which Peter was diagnosed with, known as spinal muscular atrophy, consists of a rare neuromuscular disorder. The condition is often associated with a loss in motor neurons and a slow deterioration of the body’s muscles. One potentially detrimental result can include the inability to breath, as was the case with Peter Ramirez. Without proper treatment, these types of symptoms can lead to early deaths in patients diagnosed with the rare disease.
The future for patients with muscular dystrophy
As the aforementioned testimonial with Spinraza has suggested, the significant treatment of muscular atrophy is well on its way towards a refined method by which patients can turn to in order to slow the progression of the disease. With further research, the drug may very well be on its way toward a more improved treatment method. This can ultimately be accomplished if a focus is put on creating less severe side effects after taking the drug.
In addition to the research surrounding muscular dystrophy, an enhanced awareness is also required. As more and more organizations have sprouted throughout the years, this focus on bringing an end to muscular dystrophy is ever present. By raising awareness, organizations have been able to better the support systems for the patients affected by this unfortunate disease, as well as provide the necessary funding the condition needs in order to find a cure.