Adam Tabriz, MD
Life-Changing Diagnosis: How Peter's 18th Birthday Wish Came True in an Unexpected Way
Peter had recently celebrated his 18th birthday and was excited for what the rest of the year held for him. Little did he know that his life would be changed in a few short weeks.
One day, while at the doctor's office, Peter was given the shock of a lifetime: he had been diagnosed with FSH Muscular Dystrophy. Peter's world seemed to stop, and he felt like he had been hit by a freight train.
Muscular dystrophies are a group of disorders that affect the muscles, including Facioscapulohumeral muscular dystrophy (FSHMD).
FSHMD is the most common type of muscular dystrophy characterized by weakness of the facial muscles and shoulder girdle. It affects about seven people every 1000 and usually presents itself by age 20.
FSHMD is an autosomal dominant disorder, meaning that it is inherited. In most cases, 98%, the disease is caused by a deletion on the long arm of chromosome 4 at the 4q35 locus. In up to 30% of patients, the mutation is de novo (sporadic) rather than inherited. Diagnosis of FSHMD is usually made through DNA analysis.
Living with FSHMD can be challenging, but many resources are available to help those affected and their families manage the disorder. Support groups and online resources can provide information, support, and advice. Additionally, it is vital to maintain a healthy lifestyle, exercise regularly, and get adequate rest.
Indeed, FSHMD is a severe disorder that can cause a range of symptoms and can significantly affect a person's quality of life. It is essential to be aware of the condition and its symptoms to help those affected can get the support they need.
Regarding Facioscapulohumeral muscular dystrophy (FSHMD), understanding the disorder's signs, symptoms, and progression is critical to taking control of your health.
As mentioned earlier, the most common signs of FSHMD include difficulty whistling, closing the eyes, and raising the arms (due to weakness of the scapular stabilizer muscles). Patients may also notice a change in facial expression, sensorineural hearing loss, and retinal vascular abnormalities.
Typically, symptoms of FSHD start to manifest during adolescence, with 95% of cases displaying by age 20. Symptoms are slowly progressive and vary from the chance to point, with some patients never becoming disabled and having an average life expectancy and others requiring a wheelchair in adulthood. An infantile variety of conditions is rapidly progressive and results in severe disability.
It is also important to note that FSHMD is a complex disorder and that symptoms can vary from person to person. Therefore, it is best to speak with your doctor if you think you may have FSHMD to receive a diagnosis and create a treatment plan tailored to your needs.
Although FSHMD is a lifelong condition, many ways exist to manage the symptoms and lead a happy and fulfilling life. With the proper care, FSHD can be handled, and those living with the disorder can continue to do the things they love and enjoy.
Despite his shock, Peter soon realized he was not alone. Many others were facing the same diagnosis, even younger than Peter. He soon began to see his condition as a challenge and an opportunity to better himself and help others.
Through determination, hard work, and perseverance, Peter was able to live a fulfilled life and make a difference for those living with FSHMD.
Though his diagnosis was difficult, Peter was determined to show the world what someone with FSH Muscular Dystrophy could do. He became an active member of the FSHMD community, advocating for awareness and acceptance. He also joined a local support group and could share his story with others and help them know that they were not alone.
He is a testament to how a person can live a meaningful life despite challenges.
If you or someone you know has been diagnosed with FSH Muscular Dystrophy, realize you are not alone. There is a strong community of advocates and supporters out there to help.
Originally published at https://original.newsbreak.com.