BROKEN LIFE – THE DAILY HELL OF MUSCULAR DYSTROPHY

A happy childhood, a close bond with my twin sibling, and then this disease cast a shadow over my young life.

I often ask, why me? In Europe, this disease affects 6 out of 100,000 people.

My mother fought for 10 years to have a child, and after numerous attempts, we were finally conceived through artificial insemination, with the help of IVF. After nine months of a high-risk pregnancy, my mother brought us into the world.

At first, there were no problems, but when I was seven years old, a blood test revealed this terrible condition. A subsequent genetic test confirmed the muscle-wasting disease, though I, of course, continued my days in elementary school unaware of the gravity of it.

In preschool, I had many friends, running around, playing football, riding bikes, but I noticed I was a bit slower than the others, less agile, and not as brave.

At the time, I didn’t know why, I just knew I had to take supplements to grow stronger, and my parents took me to many types of therapies—physical therapy, swimming—but despite the continuous treatments, we couldn’t stop the disease from progressing.

As time went on in school, I felt the impact of the disease more and more. I realized I was different from the other kids, unable to keep up with them, and I became a target for bullying.

But I tried my best to perform beyond my abilities, studying well and diligently doing the exercises and treatments assigned to me.

Gradually, I became more aware of my incurable illness. I encountered obstacles, both small and large, in all aspects of life, which caused severe psychological and self-confidence issues.

Despite this, I performed well academically, finished high school with good grades, earned a C1 level English language certificate, and completed my bachelor’s degree at Budapest Business School with excellent results.

Currently, I’m experiencing the difficulties of finding a job, starting with this huge disadvantage.

Unfortunately, my condition is rapidly worsening. Six months ago, I could still walk 200 meters, albeit very slowly and with a limp; now, I can only manage 1-2 meters, sometimes only with the help of a cane. Even standing up from a chair is difficult, not to mention lifting small objects or washing myself. Sadly, I now rely on a wheelchair, and the increasing pain with any movement torments me.

Of course, I try to stay strong, believing that help will come. Every day, I force myself to do my exercises, stretching, taking the countless supplements, medications, and steroids that have swollen my face, caused hair loss, and led to osteoporosis.

I’ve withdrawn into my own little world and into the world of computers, accepting that I can’t live like other young people my age.

I’ve always followed the scientific, medical, and genetic developments and therapies around the world that may offer hope for recovery, or at least for stabilizing my condition.

There is a huge opportunity, a ray of hope for me, that gene therapies are finally being developed. Accessing them is almost an insurmountable challenge, but I trust in people’s goodwill and understanding, that they will help me raise this enormous amount of money. I hope that soon I can access the treatment, my condition will start to improve, and all the suffering I’ve endured over these 23 years due to this disease will have been worth it.   

Duchenne Muscular Dystrophy

What Is Known About This Disease

Duchenne muscular dystrophy (DMD) is a congenital, hereditary condition characterized by the gradual destruction of muscle cells. These damaged cells are replaced by fat and connective tissue, which lack the ability to perform muscle functions. Both Duchenne and Becker muscular dystrophy (DMD and BMD) are inherited disorders that cause progressive muscle weakness and damage to muscle cells. The condition arises due to alterations in the dystrophin protein, which is essential for maintaining the stability of muscle cells. The disease also affects the heart and respiratory muscles, with complications in these areas often leading to death.

A Promising Treatment

In June 2023, the United States approved the first gene therapy treatment for Duchenne muscular dystrophy following decades of research. This one-time infusion treatment is designed to address the genetic cause of Duchenne by repairing the faulty genetic code responsible for muscle degeneration. The therapy involves extensive pre-treatment evaluations and follow-ups over several months. Currently, this revolutionary gene therapy is only available in the United States and Dubai, with a cost of approximately 1.3 billion HUF.

Therapy Overview

Drug: Elevidys (Delandistrogene Moxeparvovec)

Duchenne muscular dystrophy (DMD) is a hereditary condition characterized by the gradual destruction of muscle cells, which are replaced by non-functional fat and connective tissue. Both DMD and Becker muscular dystrophy result from mutations in the dystrophin protein, essential for muscle cell stability. This condition leads to progressive muscle weakening and, over time, impacts the heart and respiratory muscles, with these complications often being fatal.

The Elevidys Breakthrough In June 2023, the U.S. approved Elevidys, the first gene therapy for Duchenne muscular dystrophy, specifically designed for children. Mechanism of Action Elevidys delivers a micro-dystrophin gene using a recombinant adeno-associated virus. The micro-dystrophin mimics the function of dystrophin, stabilizing muscle cells and halting degeneration. Administered as a single intravenous infusion, it targets muscle tissues for the production of micro-dystrophin. The therapy also includes a muscle-specific promoter (MHCK7 DNA element) to enhance gene activity in both cardiac and skeletal muscles. Significance Elevidys represents a groundbreaking development in DMD treatment, directly addressing the genetic cause of the disease. This single-dose therapy offers long-term benefits and a new therapeutic pathway for children battling this debilitating condition.

Availability and Cost Currently offered only in the United States and Dubai. The total cost of the therapy is approximately 1.3 billion HUF. Preceding the treatment are extensive evaluations and follow-up care. This revolutionary treatment provides hope to those affected by DMD, potentially altering the trajectory of the disease and improving quality of life.