Leukodystrophy

"no learning to accept life the way it was meant to be and acting on it is going to bring change."

Individuals who inherit this disease will have a rapid progression of symptoms. Walking becomes difficult and skeletal contractures and muscle atrophy follows. They also usually need wheelchairs by adolescence. Half of the receivers of the disease unfortunately develop some form of mental retardation and most never make it past their teenage years. Currently, options for a treatment of muscular dystrophy are limited. Physical therapy may slow down the progression of deformities. Such devices as wheel chairs, crutches, or secondary orthopedic limbs may permit mobility. There are also a few medications that can help relieve pain and stiffness in the muscles. The Muscular Dystrophy Association, the Parent Project Muscular Dystrophy Research and the Children's Hospital of Pittsburgh helped fund a research project for the disease. The research, carried out by Johnny Huard, Ph.D., is looking fairly successful. Scientists are isolating special

Therefore, individuals that suffer from DMD will usually die in their early 20s, due to infection, heart and/or respiratory difficulties (Blake et al., 2002). During 1961-1982, data was collected on 473 Dutch Duchenne muscular dystrophy patients. By studying this data, it was shown that the median survival was 19.4 years for patients that have already passed the age of 10 years old. About 23.6% of individuals survived 23.3 years at the minimum. On average, patients died 7.9 years after becoming immobile (Essen et al.) DMD can be detected shortly after birth by examining the amount of serum creatine kinase (CK) activity within the infant. Although, diagnosis is usually made during 3 to 8 years (Jennekens FG, et al. 1991). The symptoms of Muscular Dystrophy typically appear between the ages of two and three. The symptoms include falling frequently, increased clumsiness, walking on the toes, stiffness and weakness in the muscles, mental impairment, learning disabilities and

Duchenne’s muscular dystrophy (DMD) is a progressive genetic disorder that leads to muscle atrophy and eventually death. Diagnosing DMD consists of blood tests, genetic testing, and muscle biopsies. Signs and symptoms begin presenting in toddlers with DMD and progressively worsen throughout life. There is no cure for DMD, and will cause terminal cardiopulmonary complications. Medical interventions consist of corticosteroid treatment, respiratory management, cardiac management, psychological management, and physical therapy interventions.

Duchenne’s muscular dystrophy is one of the most common forms over childhood muscular dystrophy and primarily affects boys; in total there are 30 different forms of muscular dystrophy 50% being duchenne’s muscular dystrophy (NIH, 2013). This type of muscular dystrophy usually begins to show symptoms around the pre-school age and affects the lower extremities first. By the age of twelve, most boys are in a wheelchair as the trunk muscles being to weaken leading to scoliosis and kyphosis. Eventually the diaphragm begins to weaken and young men with Duchenne’s muscular dystrophy will need assistance with breathing through the use of a ventilator (Naff, C. 2012). According to the 1st Edition of Perspectives on Disease and Disorders Muscular Dystrophy by the age of eighteen most young men would have experienced a cardio myopathy (weakening or the heart muscle) (Naff, C. 2012). Duchenne’s muscular dystrophy (DMD) is a chromosome X-linked and genetically inherited neuromuscular disease. The New England Journal of Medicine reports that Duchenne’s muscular dystrophy affects 1 in 3500 new born baby boys. Duchenne’s

ALS, better known as Amyotrophic Lateral Sclerosis, is considered as a complex genetic disorder, in which multiple hereditary and environmental factors combine to cause this disease. This is seen as an illness of parts of the nervous system that control voluntary muscle movement. In ALS, the motor neurons (nerve cells that control muscle cells) are gradually lost. When these motor neurons turn out to be lost, the muscles they control become weak and ultimately nonfunctional. We see that “amyotrophic” is rooted in Greek origin meaning without nourishment to muscles and refers to the loss of signals nerve cells normally send to muscle cells. “Lateral” simply means to the side and refers to the location of the damage in the spinal cord. “Sclerosis” means hardened and refers to the toughened nature of the spinal cord in advanced ALS. This progressive neurodegenerative disease, that was first discovered 150 years ago, is associated with a life expectancy of approximately three years after symptom onset. In the United States, ALS is also known as Lou Gherig’s Disease, named after the Yankees Baseball player who passed away because of it in 1941. In the United Kingdom and other parts of the world, it’s often referred to as motor neuron disease in reference to the cells that are lost in the disorder (ALS Association, 2015).

Muscular dystrophy can be diagnosed with a physical exam and diagnostic testing completed by the child’s pediatrician. Additional information that will be obtained during the examination will be family history, pregnancy history, and birth history. Diagnostic studies for muscular dystrophy include muscle serum enzymes (especially creatine kinase), electromyogram (EMG) testing, muscle fiber biopsy, electrocardiogram abnormalities reflective of cardiomyopathy, and genetic pedigree (Lewis, 2011). Duchenne muscular dystrophy is caused by the lack of dystrophin. A muscle biopsy can be done to confirm a diagnosis of muscle dystrophy. The biopsy will show evidence of significant fat and connective tissue deposits, deterioration and necrosis of muscle fibers, and a lack of the muscle

Batten disease is also a fatal hereditary disorder of the central nervous system occurring in childhood. The symptoms include formation of lipopigments in body tissues and early symptoms include personality and behavior changes, clumsiness or stumbling. As the disease advances children may experience mental impairment, loss of sight and motor skills, become blind and bedridden. Lafora body disease is a rare genetic disorder responsible for causing progressive dementia and movement problems. The symptoms arise in the early childhood or late teens and are characterized by the presence of Lafora bodies in brain, skin, muscles and liver and death of child within 2-10 years.

However, the disease progresses to the point that the children have difficulty rising from the floor and have an obvious waddling gait. This decline in motor strength remains linear. The symptoms accentuate themselves between the age of 3 and 8. On average, functional ability declines rapidly after age 8. By their 9th year some become confined to the wheelchair and by their 12th year most cannot remain ambulatory (Clinical pediatric neurology, Pg. 182). Other symptoms include large and rubbery calf muscles and in Duchenne muscular dystrophy an IQ that is significantly lower than the average, the mean IQ of affected children being of only 85. More importantly the pelvic weakness that prevented them from rising from the floor can increase to such a degree that breathing becomes difficult and some patients can die of chocking.

Too often we get bogged down in our past, and in memories of events that we think define us and restrict us from moving forward. The truth is that we can decide today who we want to be. We may have some baggage, and we may have future dreams, but today is the only day where we can define who we are and what direction we want our lives to go.

The diagnosis of the disease, its cause or causes, stage, treatment and prognosis will be sought from the pediatrician. He establishes and explains the connection between the disease and the patient's family history. He prescribes appropriate medicines and medications to alleviate the patient's symptoms. The moral principles surrounding the couple's decision concerning the disease are contributed by the ethicist. He warns against the double-effect situation in this disease condition. He emphasizes that birth defects

“It’s better to look back on life and say, ‘I can’t believe I did that’, than to look back and say, ‘I wish I did that’”. This quote was said anonymously by an individual who believed that people ought to pursue whatever it is in life that they are passionate about while maintaining immense joy. In order to move forward, sometimes people need to take a moment to reflect on just how far they have come to know what still needs to be accomplished. If I were to go visit a time in my past, it would be the time I went on a Carnival cruise for Passport to Discovery.

Most children with the disorder have extreme developmental and intellectual delays. According to an article from the National Organization of Rare Disorders, as children age, they “experience poor growth and exhibit short stature” (NORD 1). The organization also states that most children experience developmental milestones, like crawling and expressive speech, later than normal. Children also experience behavioral issues, including the inability to pay attention, sensitivity to varying sounds, and spontaneous moods. Congenital heart defects, abnormal lungs, spinal deformities, and various malignancies are common among individuals diagnosed with RSTS. Many physical features are also affected. The American Association for Pediatric Ophthalmology and Strabismus describes the ocular symptoms of RSTS as downward “slanting… eyes, widely spaced eyes, strabismus (eye misalignment), ptosis (droopy eyelid),… frequent eye infections… [and] congenital glaucoma” (AAPOS 1). Diagnosed individuals may also have a beak-like nose, small head, small mouth or jaw, overly broad fingers (mainly thumbs) and toes, or warped or duplicated foot

Metachromatic Leukodystrophy is an inherited disorder in which cells accumulate fat. This accumulation of fat in the cells is called ‘sulfatides.’ When this occurs, it makes it difficult for the nervous system to produce myelin which is a protection around the nerve cells. When myelin protects a cell, it can produce white matter throughout the nervous system. However, the sulfatide in the cells makes I difficult to produce white matter because it will either destroy or damage white matter. Resulting in a deterioration of intellectual function, motor skills and the ability to walk.

There’s a lot we can learn from the stories of our past – if we tell them in such way that enables us to hear what they really have to say. This holds true with me and my life. To put it simply, the life I’ve lived up to this point has been nothing short of a beautiful (and bumpy) roller coaster ride! As I have grown up there have been many factors that have influenced me to take on or do certain things. These things, plus some of my individual choices, have contributed into what’s made me who I am today. And with that, I’m happy to say for this moment in time, I’m satisfied with the person I am and the path I’m taking.