by Maneesha Prakash
On October 27, 2016, my son Marco was admitted to Torrance Memorial Intensive Care Unit, complaining of shortness of breath, and extreme stomach pain. We assumed this was another inflammatory episode of his chronic condition that would be resolved with bed rest and proper nutrition in a few days, at most. Marco did not return home, or see the world beyond the walls of a hospital, for over three months.
Marco suffers from a very rare, rapidly progressing, life-threatening type of Muscular Dystrophy known as BAG3 MFM6 myopathy. This condition is caused by a spontaneous mutation in a single gene – parents and family do not carry it. No treatment exists. All known subjects with the disease have died in their teens or twenties.
Marco, now 22, is confined to a wheelchair and needs a breathing machine. Alexander Zah, a 14-year old Massachusetts boy, is the only other person in the U.S. known to have the same unlucky strike mutation. Both boys have lived with no treatment, no hope, and the knowledge that their condition is so rare that there is little incentive for medical research to be conducted on their behalf.
We moved to Rancho Palos Verdes in 2003 when Marco was 8 years old, with his two older sisters. He attended Soleado Elementary School and was your average All-American Boy, with an average dislike of math, and an above average love of soccer. He spent most of his free time kicking a soccer ball against the garage door of his Longhill Drive home. As soon as he was old enough he began playing AYSO soccer.
He was the slowest player on the field, which was not a surprise. When Marco was a toddler he had a difficult time sitting on the floor or crossing his legs. He would fall off playground swing sets because he didn’t grip the ropes tightly enough. Neurological tests showed that Marco was missing some key nerve reflexes, but doctors were at a loss as to why. Nevertheless, Marco enjoyed playing AYSO, which is open to all kids, regardless of ability. In 2006, his team, the Strikers, won the championship cup, which sent him to a heaven of happiness.
Marco continued playing soccer at Ridgecrest Middle School, but with more and more difficulty. P.E. required running around the field, which was excruciatingly difficult. The UCLA Pediatric Neurology Clinic conducted multiple tests, but could not diagnose the problem. He attended summer soccer camps, and though he could not run much, he was praised by his coaches for his technique. He hoped to try out for the Peninsula High soccer team. But by the end of the summer of 2008, he was forced to accept the reality that he could not keep up with the physical requirements of the game. Instead, he became a living encyclopedia of FIFA and soccer World Cups, dating back to 1930. He hoped to become a game commentator, until he discovered those jobs go exclusively to former players.
He looked for another passion and found music. After trying drums and guitars, he settled on bass guitar. He joined a jazz band through the Harbor College outreach partnership. The group played at El Camino over the holiday season. He immersed himself in music theory and composition. Music filled his head and his home.
But, as with soccer, Marco’s body could not keep up with the physical demands of his new passion. As his disease progressed he began to lose coordination in his extremities. His fingers, once deft at pressing chords, lost their strength, making it difficult to learn new and challenging pieces. After advancing within just a few years from from novice to accomplished bassist, he had to move on, once again.
Marco transferred to Rancho del Mar in 2011, which offers individualized instruction to Peninsula students. A shorter work day and a different approach to learning helped him tremendously. He became an A student (though still not in math). He drove a car with hand controls. But a diagnosis still eluded the UCLA neurologists.
In 2012, Marco transferred back to Peninsula High and began dating a beautiful young woman named Emily. By then, his health had declined to the point that he could no longer walk, and was confined to a wheelchair. He went with Emily to the 2013 prom in his wheelchair.
Finally, in early 2012, the UCLA team reached a diagnosis. Marco tested positive for the recently discovered and usually fatal genetic mutation known as BAG3 MFM6 myopathy. His family was on the verge of despair.
Then, out of the blue, I received calls from two individuals who gave us hope.
The first was from Dr. Monte Willis, of the University of North Carolina. He was doing basic research on a heart condition known as cardiomyopathy, which results from a gene mutation similar to the mutation responsible for Marco’s condition.
The second call was from Laura Zah, of Massachusetts, mother of 14-year-old Alexander. She had see a slide presentation about Marco that I had posted on YouTube.
Our families began talking to medical researchers, among them, an expert in gene therapy from Harvard University who is studying genetic mutations. We are now in negotiations to help commence a research project on their mutation.
There are no government funds for research on such a rare disease, and no pharmaceutical company will invest in the necessary research for a disease with so few sufferers.
To raise money to fund research, our families have established the non profit Alexander’s Way Research Fund at Alexandersway.org and a GoFundMe campaign at GoFundMe.com/genecure.
Last month marks one year since Marco’s urgent admittance to Torrance Memorial Hospital. Since then, his condition has stabilized and he is living his life to the fullest. Soccer matches are on the sports channels and he has begun to compose digital music, which does not require the muscular dexterity required of conventional composing. Emily, has been by his side throughout his ordeal.
Since the beginning of the human race, rare and deadly genetic diseases have left children like Marco and Alexander without hope. Now, for the first time in human history, we are developing the technical tools that in a not too distant future may eradicate these diseases from the face of the Earth. It is our duty to do all we can to save Marco, Alexander, and future generations of children.