Multiple Sclerosis

What is Multiple Sclerosis? It is a condition a chronic autoimmune affecting movement ensation and bodily functions. This condition is caused by the destruction of the myelin insulation covering nerve fibers of the central nervous system meaning the brain and spinal cord. Multiple Sclerosis affects  more than a quarter of a million people of in United States with most having their first symptoms between the ages of 20 and 40. Women are almost twice as likely to get MS over a man especially in their early years. The way MS progresses can be unpredictable. Despite the massive amount research it is still unknown what causes the unset of this condition some things have pointed to genes, others have pointed to environmental factors, viruses or a combination of both. The risk of developing MS is higher if a family member has it. This prevalence is higher in people with northern European descent. In the first stages you may have a symptom here and there you may go months to years in the first phase of MS. In the second phase the symptoms become more frequent. In the final phases you will have more frequent symptoms. Only 10 to 20 percent of people have a slow progressing form of MS and may never show symptoms. The following phases will show the following symptoms.

• Muscle weakness, causing difficulty walking
• Loss of coordination or balance
• Numbness, "pins and needles," or other abnormal sensations
• Visual disturbances, including blurred or double vision.

Later symptoms may include:

• Fatigue
• Muscle spasticity and stiffness
• Tremors
• Paralysis
• Pain
• Vertigo
• Speech or swallowing difficulty
• Loss of bowel and bladder control
• Incontinence, constipation
• Sexual dysfunction
• Cognitive changes.

 Some medications that treat symptoms of MS are Copaxone, Gilenya, Ampyra, Tecfidera, Aubagio, Rebif, Avonex, Betaseron, Natalizumab, Prednisone just to name a few.

Muscular Dystrophy

Muscular Dystrophy

Muscular Dystrophy is a condition that leads to progressive and irreversible weakness and loss of muscle mass, There are more than 30 different types of  muscular dystrophy and each has a different cause. The signs and symptoms can be varied but  can include difficulty walking, trouble breathing, trouble swallowing, restriction in joint motion, and heart problems along with other organ issues. Every type of Muscular Dystrophy is genetic even though genetic history will not show any new mutations of the condition. Some types of muscular dystrophy are 

• Duchenne muscular dystrophy (DMD): DMD affects young boys, causing progressive muscle weakness, usually beginning in the legs. It is the most severe form of muscular dystrophy. DMD occurs in about 1 in 3,500 male births, and affects approximately 8,000 boys and young men in the United States. A milder form occurs in very few female carriers.
• Becker muscular dystrophy (BMD): BMD affects older boys and young men, following a milder course than DMD. BMD occurs in about 1 in 30,000 male births.
• Emery-Dreifuss muscular dystrophy (EDMD): EDMD affects young boys, causing contractures and weakness in the calves, weakness in the shoulders and upper arms, and problems in the way electrical impulses travel through the heart to make it beat (heart conduction defects). Fewer than 300 cases of EDMD have been identified.
• Limb-girdle muscular dystrophy (LGMD): LGMD begins in late childhood to early adulthood and affects both men and women, causing weakness in the muscles around the hips and shoulders. It is the most variable of the muscular dystrophies, and there are several different forms of the disease now recognized. Many people with suspected LGMD have probably been misdiagnosed in the past, and therefore the prevalence of the disease is difficult to estimate. The number of people affected in the United States may be in the low thousands.
• Facioscapulohumeral muscular dystrophy (FSH): FSH, also known as Landouzy-Dejerine disease, begins in late childhood to early adulthood and affects both men and women, causing weakness in the muscles of the face, shoulders, and upper arms. The hips and legs may also be affected. FSH occurs in about 1 out of every 20,000 people, and affects approximately 13,000 people in the United States.
• Myotonic dystrophy: also known as Steinert's disease, affects both men and women, causing generalized weakness first seen in the face, feet, and hands. It is accompanied by the inability to relax the affected muscles (myotonia). Symptoms may begin from birth through adulthood. It is the most common form of muscular dystrophy, affecting more than 30,000 people in the United States.
• Oculopharyngeal muscular dystrophy (OPMD): OPMD affects adults of both sexes, causing weakness in the eye muscles and throat. It is most common among French Canadian families in Quebec, and in Spanish-American families in the southwestern United States.
• Distal muscular dystrophy (DD): DD begins in middle age or later, causing weakness in the muscles of the feet and hands. It is most common in Sweden, and rare in other parts of the world.
• Congenital muscular dystrophy (CMD): CMD is present from birth, results in generalized weakness, and usually progresses slowly. A subtype, called Fukuyama CMD, also involves mental retardation. Both are rare; Fukuyama CMD is more common in Japan. The above information is from Free Medical Dictionary.

One of just many forms of Muscular Dystrophy

PTSD

PTSD also known as Post Traumatic Stress Disorder. What is it? and How do you get it? PTSD is a disabling condition. This conditions leaves scares that can not be seen. PTSD is classified as a mental health condition and a disability. You see this type of condition in all kinds of people. Someone may suffer from PTSD after a car accident, a sexual assault. This disability is found in Veterans returning home from combat tours. This is caused by the Veteran being under a substantial amount of stress, seeing a buddy get killed, being in a direct attack and having to fight for their life. This condition affects a different percentage depending on when the veteran was deployed over seas. In the OEF OIF Iraq war the stats show that 11- 12 out of every 100 vets have PTSD. In the Golf war about 12 out of every 100 vets returned with PTSD. In Vietnam 15 out of every 100 vets returning home suffer from PTSD. The Veterans Hospital is a place to start if you feel yourself as a veteran is suffering from PTSD. Life threatening exposure is not the only reason that people in the military suffer from PTSD among the military 23 in every 100 women experience sexual assault and 55 out of 100 women as well as 38 out of 100 men have experienced sexual harassment. Someone with this mental disability suffer from things such as anger out bursts, depression, anxiety, being with drawn from every day life. This disability also causes people to suffer from sleep deprivation, chronic pain, and hypervigilance. PTSD has caused people to commit suicide. PTSD can be found in Children as well this some of the symptoms are avoidance of a place or situation that causes anyone with this disorder to be stressed. Sleep disturbance is another symptom of PTSD due to nigh mares. A person with PTSD can have very vivid flash backs of the traumatic event. These flash backs can happen out of nowhere and at any time. Flash backs can be very debilitating. Please remember no one fights this disability alone please seek help.

Just One Face Of  PTSD

ALS - Kristina

Hi everyone,

My name is Kristina and i'm Dez's friend. She allowed me to make a post on her blog. Something near and dear to my heart. A post about ALS - A disease my father passed away from in 2009. I decided instead of making a long post about my dad to post a video that shares a story similar to mine. I hope that anyone reading this takes the time to learn a little more about a disease that little is known about.

Autism Spectrum Disorder

Just One Face of Autism Spectrum Disorder

What is Autism? It is a condition that comes in a wide verity of ways. People with Autism Spectrum Disorder can be super high functioning and able to do so much for them selves hold jobs get degrees and even have a family of their own. While others may live with family or in a group home for their entire life due to the severity of the disorder. These people fall into the low functioning part of the spectrum. They are either non verbal meaning not talking or they can be somewhere near that. Some while they are able to talk even in the lower end of the spectrum they may have other delays in learning. Autism is not always a stand alone disorder it may go hand in hand with disorders. This spectrum disorder is a condition of brain development and an it impacts  how people perceive socialization and others. People with this disorder also partake in repetitive routines and behaviors. Asperger's syndrome is one condition of this spectrum as is childhood disintegrative disorder . While there is no cure for Autism Spectrum Disorder early  intervention and intensive treatment can effect and make a big difference for children with this disorder. Some symptoms of this disorder are difficulty learning ,low intelligence, trouble putting into effect what they have learned, trouble communicating and adjusting to social situations. People with Autism Disorder are also know to not make direct eye contact when speaking as well as being spoken to. Repeats words or phrases verbatim, but doesn't understand how to use them .Doesn't appear to understand simple questions or directions. Doesn't express emotions or feelings and appears unaware of others' feelings. Doesn't point at or bring objects to share interest. Inappropriately approaches a social interaction by being passive, aggressive or disruptive. Has difficulty recognizing nonverbal cues, such as interpreting other people's facial expressions, body postures or tone of voice. These are just to name a few. More Symptoms can be found on the Mayo Clinic web page. These are some of the causes of the disorder. Autism spectrum disorder has no single known cause. Given the complexity of the disorder, and the fact that symptoms and severity vary, there are probably many causes. Both genetics and environment may play a role.

• Genetics. Several different genes appear to be involved in autism spectrum disorder. For some children, autism spectrum disorder can be associated with a genetic disorder, such as Rett syndrome or fragile X syndrome. For other children, genetic changes (mutations) may increase the risk of autism spectrum disorder. Still other genes may affect brain development or the way that brain cells communicate, or they may determine the severity of symptoms. Some genetic mutations seem to be inherited, while others occur spontaneously.
• Environmental factors. Researchers are currently exploring whether factors such as viral infections, medications or complications during pregnancy, or air pollutants play a role in triggering autism spectrum disorder.

The Puzzle Piece has become the logo for Autism Awareness.

The best way to describe Autism it is like missing a piece of a puzzle.

 

Dwarfism

Dwarfism

Dwarfism is a condition that affects people in many different ways. The medical definition for Dwarfism. There are 200 different types of Dwarfism. There are three types of skeletal dysplasia  Achondroplasia, Spondyloepiphyseal Dysplasia Congenita, and Diastrophic Dysplasia. Some characteristics that go with Dwarfism are small stature caused by shorting of the limbs. Hip dysplasia and foot deformities. Dwarfism has some medical conditions as well that are 

This is what some one with Achondroplasia looks like.

There is surgical treatments for helping with the treatment of Dwarfism such as putting shunts in to drain help remove excess fluid from around the brain. Stabilizing correcting and reshaping the spinal cord. Changing the direction of the bones growing. 

The Mayo Clinic has many different way to help with Dwarfism. One choice that people with Dwarfism may choose to have done is Extended Limb Lengthening. Which requires  multiple surgeries. This procedure is controversial for many people with dwarfism because, as with all surgeries, there are risks. Waiting to decide about limb lengthening until the person with dwarfism is old enough to participate in the decision is recommended because of the emotional and physical stress involved with multiple procedures. Dwarfism is an on going condition that needs to be closely watch through adult hood to keep an eye on any new medical conditions that may need further medical attention.

Down Syndrome

Down Syndrome

Down Syndrome is a congenital  condition and it causes developmental disability. It is classified with an extra chromosome which is the 21 chromosome and is often defined as a copy of this chromosome. This syndrome causes some very prominent facial features such as upturned eyes and flattened nasal bridge. People with this syndrome are know to have a short stature, wide hands with short fingers and a smaller head. The people with this syndrome are some times hard to understand when they speak. This syndrome is the most common of genetic conditions that you come across. The Mayo Clinic states that this syndrome causes mild to sever intellectual and development disabilities. This syndrome causes other health conditions such as heart and gastrointestinal disorders. These are the three forms of Down Syndrome from the Mayo Clinic Web page.

• Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.
• Mosaic Down syndrome. In this rare form of Down syndrome, a person has only some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
• Translocation Down syndrome. Down syndrome can also occur when a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome.

Some Risk Factors of having a child with Down Syndrome are a mother that is older than the average birthing age. One parent or the other has the translocation genetic trait to start with and the mother or father all ready having a child with Down Syndrome are all risk factors for having a child with Down Syndrome. People with Down Syndrome have a wide verity of health conditions such as heart defects, sleep apnea, gastrointestinal, immune disorders, obesity, spinal problems, dementia, leukemia, and other health conditions.

The life expectancy of someone with Down Syndrome is today is they can live well in to their 60s and longer. 

There is no preventative measures to take to keep from getting Down Syndrome. A genetic counselor can help you better understand, cope and prepare you to have a child with Down Syndrome.

 

People with Down Syndrome are very kind loving people and they love to help. They are generally happy as well. The best part about them is they try harder than anyone I know to make you smile. While I work with people with Down Syndrome I can tall you even if I have had the worst day ever I can go to work unhappy and leave with a smile on my face. They love to show affection as well hugging  is big with them.