AANEM Foundation News Express

AANEM Foundation News Express

Christopher Anselmo’s Journey from Ability to Disability with Muscular Dystrophy

11/6/2019
 
As a high school senior in 2003, Christopher Anselmo found himself hospitalized after a car accident. While in the hospital, doctors performed a routine blood test and discovered Christopher had extremely high creatine kinase enzyme levels. In 2004, after numerous doctor’s appointments and a thigh biopsy, Christopher was diagnosed with dysferlinopathy (also known as Miyoshi myopathy and limb girdle muscular dystrophy type 2B), caused by a lack of a protein called dysferlin – a protein that aids in the repair of muscle cell membranes.
 
“The diagnosis came as a shock since I had no symptoms of muscle weakness at the time,” Christopher explained. “The doctors said they didn’t know much about it and explained that the disease likely wouldn’t manifest until later in life, so I didn’t need to worry about it at the moment. It seemed like a weird diagnosis.”
 
For the next 4 years, Christopher was able to put the diagnosis in the back of his mind as he attended college. However, in 2008, shortly after graduation, he began to notice muscle weakness.
 
“I was going for a run after work one night, and my legs became tired very quickly. I had to stop running. I noticed that where I stopped was several hundred feet away from where I stopped the last time I ran, which made me think something was wrong. I chalked it up to being out of shape and stressed out. During subsequent runs, I kept stopping sooner and sooner, and it was then that I realized it could be the disease,” said Christopher. 
 
By 2009, Christopher was no longer able to run more than a few seconds. In 2011, after weakening further, he experienced his first fall. In subsequent years, Chris lost the ability to climb stairs, walk unassisted and raise his arms over his head.
 
“What makes this particular disease different from other forms of muscular dystrophy is that it is adult onset in nature. Most people experience symptoms in their early 20s, and are usually using a wheelchair by their 30s. Many people who have this condition were once athletic before they experienced symptoms. Then, it turns on like a light switch,” noted Christopher. “I got leg braces in 2011 which helped somewhat, but I continued to get weaker. I got forearm crutches in 2013, a scooter in 2014, and a wheelchair in 2018.”
 
Christopher, now 32 years old, says it has been difficult to deal with the physical loss of strength.
 
“For 21 years of my life, I had full mobility – I could run, climb stairs, play sports – but I am continuing to get weaker. Having LGMD2B has been difficult emotionally as well. I was depressed for a long time but have learned over the years to cope with it,” he explained.
 
One of Christopher’s greatest passions is writing, and he has paired that passion with his life experience in a blog he calls “Sidewalks and Stairwells.” 
 
“I was looking for an outlet to help cope with what was going on with me, and writing was that outlet. I can’t exercise, so I needed to find something. I love to write. I mostly write about my day to day life and the challenges and triumphs living with this disease,” said Christopher. “I named my site ‘Sidewalks and Stairwells’ because they were two obstacles that gave me trouble as I grew weaker.”
 
He says his goal with the blog is to help others going through a similar challenge. 
 
“I’ve met many different patients who have read my blog and reached out. They relate to what I’m going through and it means so much to help others avoid the pitfalls I experienced.”
 
In one of Christopher’s blog posts, he provided a list of his role models, one of whom is Monkol Lek, PhD. Dr. Lek, a muscle disease researcher diagnosed with LGMD, has a similar story to Christopher’s. He did not have any symptoms of LGMD until he was 19 and started experiencing muscle weakness. Because it took Dr. Lek several years to receive his specific genetic diagnosis – LGMD type 2G – he has dedicated his research career to improving the diagnosis of rare muscle diseases. Dr. Lek has received research support through a co-funded MDA/American Neuromuscular Foundation Development Grant.
 
“Monkol is a big role model of mine. I met him at a conference in 2013 and learned he also had LGMD. We’ve stayed in touch over the years and I’ve had the chance to spend time with him on a few occasions. I also interviewed him for the MDA blog last year. I learned more about his backstory, which is fascinating. He is so smart and has overcome so much in his life. And his line of work – helping to diagnose undiagnosed cases of muscular dystrophy – is incredibly important. He is a great friend of mine,” Christopher remarked.
 
Christopher believes Dr. Lek’s research will result in proper diagnoses for many patients, which will give them invaluable peace of mind.
 
“There are over 30 types of LGMD, and each subset has only a handful of patients, maybe a few hundred to a few thousand at most. Monkol’s work helps to give a definitive diagnosis to patients diagnosed with just ‘LGMD’ or something similar, but who do not know their genetic subtype. Many people have gone years and decades without knowing for sure what type they have. The more patients properly diagnosed, the larger the patient population, and the more likely biotech and pharma will be interested in exploring these diseases,” Christopher stressed. 
 
Besides writing, Christopher taps into his LGMD experience through his work as a market intelligence manager on the healthcare partnerships team at the Muscular Dystrophy Association (MDA). He says his team is tasked with building relationships with biotech and pharma companies that will ultimately help MDA families by improving care and, one day, providing cures for those living with muscular dystrophy.
 
Christopher is hopeful the scientific research Dr. Lek and others are doing will result in meaningful treatments and therapies for patients with neuromuscular diseases. However, more funding is needed to continue the research, clinical development and unprecedented momentum currently taking place.
 
“We are not at the point yet where there is a meaningful therapy for my disease or other forms of limb-girdle. Only now are we starting to see therapies enter the clinic for LGMD, such as the Myonexus* LGMD2E gene therapy drug. We need more companies to enter this space, and that can only be done with research and by finding more patients who have LGMDs – which is why Monkol’s work is so important.
 
“These treatments could change the lives of patients. Continued financial support could have a huge impact on people who have been waiting years and years … wonderful people whose lives have been turned upside down by muscle disease.”
 
While the LGMD2B diagnosis certainly was unexpected and altered Christopher’s life in many ways, it has given him a sense of purpose and a desire to make his mark on the world.
 
“If anything, it has motivated me to do something with my life and accomplish my goals and dreams. It has also made me a more empathetic person. I can relate well to the struggles of others, and I want to use my experience to help other people going through a similar diagnosis.”
 
“I firmly believe the cures we seek are not too far away.”
 
Join the fight against neuromuscular disease! Your generous donation funds further research to make a positive impact on patients’ lives. Consider a donation today to the American Neuromuscular Foundation or the Muscular Dystrophy Association.  
 
*In February 2019, Sarepta Therapeutics exercised its option to acquire Myonexus.
 


View Related News Stories:

  Patient Stories


Recent AANEM Foundation News

Christopher Anselmo’s Journey from Ability to Disability with Muscular Dystrophy

Sean Dorney: Grappling with ALS in His Golden Years

Orlando Houston: “I May Have ALS, but ALS Doesn’t Have Me!”

2019 AANEM Annual Meeting: Funds Available for Physicians from Economically Developing Countries to Attend

Hattie’s World with SMA: Donuts, Dinosaurs, and Doctor Visits