College Freshman With Spinal Muscular Atrophy has Exciting Plans for the Future

A recent interview with David Alvarez and his mother in the CTPost explains how he manages to remain positive after being diagnosed with spinal muscular atrophy (SMA).

David is a freshman at the University of Bridgeport majoring in business management. In addition to his studies, he offers encouragement to others through his newly-established line of clothing which he named MADE clothing

But most importantly, he is receiving continuous treatment at Connecticut Children’s Medical Center in Hartford for spinal muscular atrophy.

A Difficult Diagnosis

Davis’s symptoms began when he was in kindergarten. He was unable to walk short distances and had trouble climbing stairs. He kept getting weaker but none of the doctors who examined him were able to pinpoint the cause or the disorder.

At age 11, David was tested for muscular dystrophy with negative results. Then David’s parents decided to stop all testing and allow him to lead a normal life.  David became active in many sports but had difficulty keeping up with the other players.

When he was 15 years old he began to have problems managing the stairs on the school bus, so his mother began driving him to school.

His health continued to decline. David was examined by a series of doctors. One of the doctors suggested that the tendons in his legs were too tight.  Another physician suggested that it could be muscular dystrophy. A third doctor, after viewing the negative results of various tests, told his family that he may eventually be confined to a wheelchair.

There seemed to be no hope for an accurate diagnosis or proper medication. His mother, father and sister adjusted their own lives to his disability. His mother often wished that she was the person with the disability rather than her son.

Although the physical effects were burdensome, David was always upbeat, even when he spoke about his illness. He says that he still did what he wanted to do each day of his life and that he “didn’t really let it get to me.”

The Diagnosis: Spinal Muscular Atrophy

About the time David turned 17, his pediatrician retired. His mother requested his medical records and as she read through them she realized that they had never been never referred to a neurologist. They found Gyula Acsadi, MD, PhD, head of the Division of Pediatric Neurology at Connecticut Children’s Medical Center.

Dr. Acsadi recommended genetic testing and the results showed that David had spinal muscular atrophy (SMA). Dr. Acsadi told David and his parents that there is hope through treatment with Spinraza (the brand name for nusinersen), approved by the U.S. Food & Drug Administration in December 2016 for the treatment of SMA.

About SMA

The term spinal muscular atrophy can be broken down into three segments. It is “muscular” because it mostly affects muscles. The majority of the nerve cells that control muscles are found in the “spinal” cord and the medical term for getting smaller is “atrophy”.

SMA is a rare neuromuscular disorder caused by the loss of nerve cells called motor neurons which would normally transmit signals from the brain through the spinal cord. This loss of neurons prevents muscles from receiving signals from the brain and can lead to muscle deterioration, which is called atrophy.

Chromosome 5 SMA is the most common form of spinal muscular atrophy. Because age, onset, symptoms, and progression vary widely, SMA is broken down into four classifications (types 1 – 4). Children who begin to display symptoms at birth or in infancy (type1)usually have the lowest level of motor function. Children, teens or adults (types 2-4) will typically demonstrate higher levels of motor function. Also, a great deal depends on how much functional SMN protein is present in the motor neurons. This, in turn, corresponds to the number of SMN2 genes a person has. Mental, emotional and sensory functions are normal in chromosome-5 SMA.

SMA Symptoms and Progression

SMA’s symptoms may vary from mild to severe. However, the primary symptom of chromosome 5-related SMA is weakening of the voluntary muscles close to the center of the body– namely, the hips, shoulders, thighs and upper back.

Spinal curvatures may develop due to the weakening of the back muscles. Other complications may occur if muscles used to breathe or swallow are affected.

Symptoms beginning later in life, combined with more protein, will result in a milder course of the disease. Previously, infants diagnosed with SMA did not live for more than two years. Today most doctors do not make predictions about life expectancy based strictly on age.

For more information see Signs and Symptoms.

About Spinraza Therapy

The good news is that David sees big improvements in his physical abilities since he began the Spinraza injections. He has grown stronger and healthier thanks to Spinraza and physical therapy. At the onset of his therapy he weighed 108 pounds but one year later he weighs 130 pounds with the additional weight being all muscle.

Spinraza, which targets the underlying defect in SMA, may potentially slow, stop or even reverse the symptoms of SMA.

The drug increases the body’s production of spinal motor neuron protein.  This helps preserve the neurons that transmit signals from the brain. The treatment for David began with “loading doses”.  This allowed the doctors to inject a sufficient amount of medication into David’s spine.

The initial three doses were administered at 14-day intervals. The fourth dose was given thirty days after the last dose. David is in the maintenance-dose stage which means that he receives doses every four months to maintain medication levels.

David explained that at each treatment Dr. Ascadi first withdraws 5 milliliters of cerebrospinal fluid from David’s spine. This is followed by injections of 5 milliliters of Spinraza into the spine in one-minute increments. David admits that it is “a little invasive” but he has had it so often that he is now a little more comfortable with it. David’s family comes with him to every appointment and his little 10-year-old sister holds his hand when he received his injections.

Adopting a Business Concept

David is most animated when he speaks about his clothing line. He says that it represents “people who are in the process of making it through any hardship in life”.

Although he always had an interest in fashion, it was not until a friend of his mentioned an ad that he had seen to buy blank T-shirts, add a logo and sell it at a profit. That was the beginning of “Made Clothing”. His T-shirts have a simple, eye-catching design. The color scheme is black, white and red featuring the word “MADE”, the Japanese symbol for “a”. David shares his story by incorporating it in his line with a message of hope and how to overcome adversity. He would like to bring his message of love and happiness to other students in Connecticut.

The T-shirts are unisex designs and are available in every size from small to extra large.  David’s shirts retail for $24.99.  For more information check out his website: www.madeclothings.com.

David’s Future Plans

David is prepared to keep receiving  treatments with Spinraza. In the meantime, scientists are working on various methods of improving the therapy as well as investigating other avenues.

With his continued optimistic outlook and now his newfound strength, David explains that he has exciting plans for the future. He hopes to live in Los Angeles after graduation and continue to build his business which includes bringing his message of perseverance and having a positive attitude.

David has confidence in Spinraza and believes that he will be in peak physical condition when he is in his 20s. He is excited about the future and believes that things will be better for himself and his family in the near future.

 


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

Share this post

Share on facebook
Share on google
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email

What are your thoughts on being a rare disease advocate? Share your stories, thoughts, and hopes with the Patient Worthy community!

Close Menu