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Posts Tagged ‘Genetic disorder’

Fanconi Renal Tubular Syndrome and Receiving Social Security Disability

Saturday, November 5th, 2011

Fanconi renal tubular syndrome refers to a group of kidney problems that are due to a variety of seemingly unrelated disorders. These kidney difficulties lead to thirst and excessive urine production. This brings about deficits of potassium, calcium, magnesium, water and other substances in your body. This, in turn, may cause stunted growth and bone disease.

When your kidneys function in the way that they ought to, they maintain your blood’s acidity, water and salt in balance, and they cleanse your blood. The acidity, water and salt that your body does not require is placed into urine. This is so that it may get out of your body. The water, salt and acidity that your body has to have is left behind in your blood.

This essential work of your kidneys is performed in two steps. First, your blood is filtered through a kidney structure that contains small holes that enable the large molecules and cells to stay in your blood. Second, some of the small molecules in the filtrate that your body has to have are reabsorbed and placed back into your bloodstream.

Fanconi renal tubular syndrome is marked by a defect in this second step of reabsorption. As a result, substances that are supposed to be reabsorbed, such as phosphate, calcium, bicarbonate, glucose, potassium, magnesium, small proteins and water are lost. What this results in is your body becoming overly acidic.

Fanconi renal tubular syndrome can be the result of genetic defects. This syndrome may  also be brought about by different environmental elements.

Fanconi renal tubular syndrome may also be caused by several genetic disorders. Some of these are:

  • Tyrosinemia
  • Wilson disease
  • Lowe syndrome
  • Galactosemia
  • glycogen storage disease
  • Medullary cystic disease
  • Hereditary fructose intolerance.

There are also several environmental factors that may lead to Fanconi renal tubular syndrome. Some of these include:

Ÿ  Exposure to heavy metals like uranium, mercury, lead, cadmium and platinum

Ÿ  Exposure to substances, such as toluene, the amino acid lysine when taken as a nutritional supplement, paraquat and Lysol

Ÿ  Kidney transplantation

Ÿ  Certain drugs like outdated tetracycline and gentamicin.

There are several signs and symptoms that you may have, which may be an indication of Fanconi renal tubular syndrome. Some of these are:

  • A decrease in the levels of calcium and phosphate in your blood, along with excessive blood acidity and increased levels of chloride in your blood
  • Anorexia nervosa (eating disorder)
  • Vomiting
  • An increase in the levels of phosphate, calcium, glucose, uric acid, amino acids and protein in your urine
  • An excessive amount of urination and urine being produced
  • Dehydration
  • An excessive amount of thirst

You may have been diagnosed with Fanconi renal tubular syndrome. If this is your situation, you may qualify to receive social security disability benefits like SSI or SSDI. A smart move on your part would be to consult one of the social security attorneys at disabilitycasereview.com about this. The social security attorneys at disabilitycasereview.com are standing ready to help you receive the disability benefits that are rightfully yours.

 

 

 

 

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Hemidesmosomal Epidermolysis Bullosa and Receiving Social Security Disability

Thursday, October 27th, 2011

 

Epidermolysis bullosa is a medical term that applies to a group of inherited disorders that are characterized by your skin becoming extremely fragile. As a result of this, skin blisters begin to occur in response to friction, heat, or minor injury that is due to scratching or rubbing.

There are several types of epidermolysis bullosa. Most of these forms of epidermolysis bullosa develop in infants and young children. However, the symptoms that are produced by the various kinds of epidermolysis bullosa may not appear until adolescence or early adulthood in some of the people who are affected by the mild types of epidermolysis bullosa. The milder kinds of epidermolysis bullosa may improve with age, but the severe types of the disorder may result in serious complications and may even prove to be fatal.

Epidermolysis bullosa is a disorder that occurs in all ethnic and racial groups. The disorder develops about equally in men and women. Thankfully, epidermolysis bullosa is a rare disorder that is estimated to take place in about 50 out of every one million live births.

Hemidesmosomal epidermolysis bullosa is one of the major forms of epidermolysis bullosa. Hemidesmosomal epidermolysis bullosa is usually present when you are born. This means that it is usually congenital. Hemidesmosomal epidermolysis bullosa is usually one of the severe forms of this disorder.

As stated earlier, hemidesmosomal epidermolysis bullosa is a genetic inherited condition. What this means is that it is handed down to you by your parents. The pattern of inheritance for hemidesmosomal epidermolysis bullosa is what is referred to as autosomal recessive. This means that both of your parents have to have the faulty (defective) gene in order for you to have the possibility of getting hemidesmosomal epidermolysis bullosa.

You may qualify for disability benefits with epidermylosis bullosa

The hallmark sign or symptom of hemidesmosomal epidermolysis bullosa is the eruption of fluid-filled bullae (blisters) on your skin. They usually begin to form on your hands and feet because of friction. These blisters typically take place in different areas on you body. With the milder forms epidermolysis bullosa, these blisters may heal without scarring. If you are experiencing this hallmark sign of hemidesmosomal epidermolysis, you may meet the requirements for some type of social security disability benefits like SSDI or SSI. The thing to do is to get in touch with one of the social security attorneys at disabilitycasereview.com. The social security attorneys at disabilitycasereview.com understand what it takes to get you the disability benefits that you deserve.

There are other signs and symptoms that you may have as an indication of hemidesmosomal epidermolysis bullosa. Some of these include:

Ÿ  Internal blistering that may take place on your intestines, stomach, esophagus, throat, urinary tract or upper airway

Ÿ  An excessive amount of sweating

Ÿ  Atrophic (wasting) scarring

Ÿ  Small cysts or tiny white bumps that develop on your skin (milia)

Ÿ  Dental abnormalities

Ÿ  The deformity or loss of your fingernails and toenails

Ÿ  Scarring alopecia (baldness, complete lack of hair)

Ÿ  Abnormal thickening of the outer layer of your skin (Hyperkeratosis)

Ÿ  Difficulty swallowing (dysphagia).

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Glycogenosis Type V and Receiving Social Security Disability

Monday, July 25th, 2011
Glycogen, a branched polysaccharide

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Glycogenosis type V is one of the glycogen storage diseases. What this means is that there is an inborn error of metabolism. It is an autosomal recessive metabolic disorder. Glycogenosis type V is evidenced by a deficiency in glycogen debranching enzymes.

Glycogenosis type V is a rare disorder. It takes place in around 1 out of every 100,000 live births in the United States.

Glycogenosis type V is a genetically linked metabolic disorder involving the enzymes that regulate glycogen metabolism. This is in common with other glycogen storage diseases. These enzymes affect synthesis or the processing of glycogen breakdown within your liver, ahaha muscles and other cell types. The process is halted if any one of these enzymes is faulty and does not finish its step. A different enzyme is involved in each step of the process. The type of glycogen storage disease that you have is determined by which particular enzyme is defective.

Glycogenosis type V is marked by a problem with glycogen storage in your body. There is an abnormal build up of glycogen in your muscle tissue. Glycogenosis type V usually starts in early childhood.

Glycogenosis type V is an hereditary (inherited) or genetic condition. As mentioned at the beginning, the pattern of inheritance is what is known as autosomal recessive. This means that you have to inherit a defective (mutated) gene from each one of your parents in order to have the possibility of having glycogenosis type V.

The dominant form of the disorder is rare. Glycogenosis type V is caused by a deficiency of myophosphorylase. This is the muscle isoform of the enzyme glycogen phosphorylase. Myophosphorylase helps break down glycogen into glucose so that it can be used within your muscle cells.

There are several signs and symptoms that you may experience that may be an indication that you have glycogenosis type V. Most of these signs and symptoms are related to exercise. Possible signs and symptoms are:

  • Painful cramps
  • Early fatigue
  • Exercise intolerance with myalgia (muscular pain)
  • Weakness of exercising muscles
  • Myoglobinuria (the presence of myoglobin in your urine).

You may show substantial muscle loss and progressively increasing weakness as you age. The signs and symptoms of many people get worse after middle age due to muscle wasting.

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Hyperkalemic Periodic Paralysis and Receiving Social Security Disability

Monday, July 18th, 2011

Hyperkalemic periodic paralysis is a disorder that is characterized by episodes of extreme muscle weakness. These episodes usually involve a temporary inability to move muscles (paralysis) in your arms and legs. It is also evidenced, sometimes, by higher than normal levels of potassium in your blood.

Most of the time, hyperkalemic periodic paralysis usually starts during infancy or early childhood. These episodes have a tendency to increase in frequency until around the age of 25. Then, they may decrease in frequency.

Muscle strength does improve between episodes of hyperkalemic periodic paralysis. However, many people continue to have myotonia (mild stiffness). This is especially true in regard to the muscles of the hands and face.

Fortunately, hyperkalemic periodic paralysis is rare. It is estimated to occur in 1 in 200,000 people in the United States. This disorder affects men more often than it does women.

Hyperkalemic periodic paralysis is an inherited disorder. It is caused by defects (mutations) that occur in the SCN4A gene. The pattern of inheritance is what is referred to as an autosomal dominant pattern. What this means is that you only have to inherit the defective gene from one of your parents in order to have the possibility of getting hyperkalemic periodic paralysis.

The hallmark sign or symptom of hyperkalemic periodic paralysis is paralysis (loss of muscle movement) or muscle weakness that comes and goes. These attacks (episodes) usually last for one to two hours, but they can last for an entire day.

There are some characteristics of the paralysis or weakness. Some of these are:

  • Most often takes place while resting after activity
  • Comes and goes
  • May happen on awakening
  • Usually lasts for 1 to 2 hours
  • Most often takes place in your hips and shoulders
  • May also involve your legs and arms but does not affect the muscles of your eyes and those that help you to swallow and breathe.

There are triggers that may lead to an episode of hyperkalemic periodic paralysis. These include:

  • Exposure to cold
  • Fasting (not eating)
  • Taking medications that contain potassium or eating small amounts of potassium-rich foods
  • Resting after exercise or other activity.
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Iron Storage Disease and Receiving Social Security Disability

Tuesday, July 5th, 2011

Iron storage disease is a genetic (inherited) condition that is marked by too much iron accumulating in your body. It is one of the most common genetic diseases in the United States.

Iron is a mineral that is found in many foods. Your body normally absorbs about 10 percent of the iron in the food that you eat. With iron storage disease, you absorb more iron than you require. Your body does not have any natural way to get rid of this excess iron. It becomes stored in your body tissues. This is especially true of your liver, heart and pancreas. This excess iron can result in damage to your organs. Iron storage disease may cause your organs to fail if you do not get treatment for it.

There are different types of iron storage disease. Primary iron storage disease is an inherited disease. It is also known as hereditary iron storage disease. Secondary iron storage disease results from an underlying condition.

Juvenile iron storage disease and neonatal iron storage disease are two additional types of the disease. Juvenile iron storage disease results in severe iron overload and liver and heart disease in adolescents and young adults between the ages of 15 and 30. The neonatal form of the disease causes rapid iron buildup in a baby’s liver that can lead to death.

Some people with hereditary (primary) iron storage disease never have any signs or symptoms. Other people have a wide range of signs and symptoms. These signs and symptoms may be different for women and men and can vary greatly from person to person.

The early signs and symptoms of iron storage disease are like those of other common conditions. Some of these include:

  • Low thyroid function (hypothyroidism)
  • Lack of normal menstruation in women (amenorrhea)
  • Impotence or loss of libido (sex drive)
  • Stiffness in your joints
  • High blood sugar levels
  • Arthritis, especially in your hands
  • Chronic fatigue
  • Abdominal pain
  • Abnormal liver function tests, even though no signs are present.

Later stages of iron storage disease may result in serious conditions. Some of these include:

  • Liver failure
  • Congestive heart failure
  • Liver cancer
  • Cirrhosis, which is irreversible scarring of your liver
  • Cardiac arrhythmia
  • Discolored skin that is gray or bronze in appearance
  • Diabetes.
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Hereditary Spinal Ataxia and Receiving Social Security Disability

Monday, June 27th, 2011

Hereditary spinal ataxia is an inherited disease that results in progressive damage to your nervous system. This damage affects your spinal cord and the nerves that control muscle movement in your legs and arms.

Ataxia is usually a sign or symptom of coordination problems, such as unsteadiness or awkward or clumsy movements. Ataxia is present in many different diseases and conditions.

The ataxia in hereditary spinal ataxia results from the degeneration of nerve tissue in your spinal cord. In particular, this is your sensory neurons that are required (through connections with your cerebellum) for directing muscle movement of your legs and arms. Hereditary spinal ataxia causes your spinal cord to become thinner and nerve cells lose some of their myelin sheath (the insular covering on some nerve cells that helps conduct nerve impulses).

Hereditary spinal ataxia affects around 1 in 50,000 people in the United States. This disease affects men and women equally.

As mentioned earlier, hereditary spinal ataxia is an inherited disease. It results from an abnormality in one of your genes, called X25, located in the ninth chromosome pair. The pattern of inheritance is what is known as autosomal recessive. What this means is that hereditary spinal ataxia can only occur when you inherit the defective (faulty) gene from both of your parents. If you get a defective gene from only one of your parents, you become a carrier of the disease.

The signs and symptoms of hereditary spinal ataxia usually start between the ages of 5 and 15. However, with late onset of the disease, signs and symptoms may begin in your 20s or 30s.

There are several signs and symptoms that you may have with hereditary spinal ataxia. Some of these include:

  • Your feet becoming deformed and rigid
  • Muscle weakness in your arms and legs
  • Diabetes
  • Paralysis of a lower limb
  • Hearing loss
  • Curvature of your spine
  • Vision impairment
  • Heart disorders
  • Slurred speech
  • Problems swallowing
  • Trembling when you are standing still
  • Progressive weakness of your legs that may appear as a staggering, lurching gait when you are walking
  • Clumsiness
  • Partial loss of your sensitivity to pain and temperature or your sense of touch
  • Loss of coordination.

You or a loved one may be afflicted with hereditary spinal ataxia. Hereditary spinal ataxia and/or complications that have been caused by it or other disorders that you have besides this disease may have led to you or your loved one’s disability and inability to work.

You may need assistance if this is your situation. You may need financial help.

You or your loved one may be intending to apply for the financial assistance that you need from the Social Security Administration by applying for Social Security disability benefits or disability benefits because of the disability that has been caused by hereditary spinal ataxia and/or complications that have resulted from it or other disorders that you have besides this disease. You may have already tried this option, and your claim was turned down by the Social Security Administration.

If you or your loved one is planning on reapplying or appealing the denial, here is an important fact that you really need to keep in mind that you may not know about. The fact of the matter is that people who are represented by a disability attorney like the one you will find at disabilitycasereview.com are approved more often than people who do not have a disability lawyer standing with them.

Please do not delay or wait until tomorrow. This is a matter of great importance to you or your loved one. Contact the disability attorney at disabilitycasereview.com, today.

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Renal Fanconi Syndrome and Receiving Social Security Disability

Friday, June 24th, 2011
Structures of the kidney: 1.Renal pyramid 2.In...

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Renal Fanconi syndrome is a group of kidney difficulties that are caused by a variety of seemingly unrelated disorders. These kidney problems result in excessive urine production and thirst. This leads to deficits of water, calcium, potassium, magnesium and other substances in your body. This may then result in bone disease and stunted growth.

When your kidneys work like they should they cleanse your blood and keep its salt, water and acidity in balance. This puts what your body does not need into urine so it can get out of your body and leaves what your body needs in your blood.

This vital work of your kidneys is done in two steps. First, your blood is filtered through a kidney structure that has small holes that keep the large molecules and cells in your blood. Second, some of the small molecules in the filtrate that your body needs are reabsorbed and returned to your bloodstream.

Renal Fanconi syndrome is evidenced by a defect in this reabsorption step. Because of this, substances that are normally reabsorbed like water, magnesium, small proteins, amino acids, potassium, glucose, bicarbonate, calcium, and phosphate are lost. This results in your body becoming overly acidic.

Renal Fanconi syndrome can result from genetic defects. It can also be caused by different environmental elements.

There are several genetic diseases that are known to result in renal Fanconi syndrome. These include glycogen storage disease, vitamin D dependency, hereditary fructose intolerance, medullary cystic disease, galactosemia, Lowe syndrome, Wilson disease and tyrosinemia.

There are also several environmental factors that can lead to renal Fanconi syndrome. Some of these are certain drugs like outdated tetracycline and gentamicin, kidney transplantation, exposure to heavy metals like lead, platinum, cadmium, uranium and mercury and exposure to other substances like Lysol, paraquat, toluene and the amino acid lysine when taken as a nutritional supplement.

There are several signs and symptoms that you may experience with renal Fanconi syndrome. Some of these include:

 

  • Vomiting
  • Excessive thirst
  • Anorexia nervosa
  • Excessive urine production and urination
  • Elevated levels of glucose, amino acids, calcium, uric acid, protein and phosphate in your urine
  • Dehydration
  • Decreased levels of phosphate and calcium and elevated levels of chloride in your blood, along with excessive blood acidity.

You or a loved one may have been diagnosed with renal Fanconi syndrome. Renal Fanconi syndrome and/or complications that have developed from it or other illnesses that you have in conjunction with this syndrome may have resulted in the disability of you or your loved one and be what is preventing you from working.

You may need help as a result of this. You may need financial assistance.

You or your loved one may be thinking about applying for the financial help that you need from the Social Security Administration by applying for Social Security disability benefits or disability benefits because of the disability that has developed from renal Fanconi syndrome and/or complications that have been brought about by it or other illnesses that you have in conjunction with this syndrome. You may have already applied and been denied by the Social Security Administration.

If you or your loved one is considering reapplying or appealing the denial, you really need to remember this important fact that you may not know about. The fact is that people who have a disability lawyer like the one you will find at disabilitycasereview.com are approved more often than people who are not represented by a disability attorney.

Please do not delay. This is something that may affect you or your loved one for the rest of your life. Contact the disability lawyer at disabilitycasereview.com, today.

 

 

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Dystrophic Epidermolysis Bullosa and Receiving Social Security Disability

Friday, June 17th, 2011
Friction Blisters on Human foot due to running...

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Dystrophic Epidermolysis Bullosa and Receiving Social Security Disability

Epidermolysis bullosa is a term that is used to refer to a group of inherited ailments that cause your skin to become extremely fragile. Because of this, skin blisters occur in response to minor heat or injury or friction from rubbing or scratching.

Most of the types of epidermolysis bullosa usually occur in infants and young children, but the signs and symptoms of these ailments may not be evidenced until adolescence or early adulthood in those who have the milder forms of this disorder. These milder forms may improve with age. However, the severe types of epidermolysis bullosa may result in serious complications and even be fatal.

Epidermolysis bullosa is an ailment that affects all racial and ethnic groups. Men and women seem to be affected equally by this condition. Fortunately, it is a rare ailment that occurs in about 50 out of every one million live births.

Dystrophic epidermolysis bullosa is one of the main forms of epidermolysis bullosa. It usually begins at birth or in early childhood.

There are three types of dystrophic epidermolysis bullosa. While these three types vary in severity, their signs and symptoms are similar because they all result from defects (mutations) in the same gene.

As mentioned earlier, dystrophic epidermolysis bullosa is a genetic inherited condition. This means that you get it from your parents. Dystrophic epidermolysis bullosa can be inherited in two different ways. It can be inherited in what is known as an autosomal recessive pattern. This means that you have to inherit a mutated (defective) gene from both of your parents in order to have this ailment. Dystrophic epidermolysis bullosa can also be inherited in an autosomal dominant pattern. In this case, you only have to inherit a defective gene from one of your parents in order to have the possibility of having this condition.

There are several signs and symptoms that you may have with dystrophic epidermolysis bullosa. Some of these are:

  • Skin that is scarred
  • Flaccid blisters
  • Pseudowebbed fingers
  • Miliary cysts
  • Large blisters
  • Alopecia (loss of your hair)
  • Mucosal blisters
  • Malformed nails and teeth
  • Vision loss
  • Disfigurement.

You or a loved one may have been diagnosed with dystrophic epidermolysis bullosa. Dystrophic epidermolysis bullosa and/or complications that have been caused by it or other disorders that you have besides this ailment may have led to the disability of you or your loved one and be what is preventing you from working.

As a result of this, you may need assistance. You may need financial help.

You or your loved one may be thinking about applying for the financial assistance that you need from the Social Security Administration by applying for Social Security disability benefits or disability benefits because of the disability that has been caused by dystrophic epidermolysis bullosa and/or complications that have resulted from it or other disorders that you have besides this ailment. You may have already tried this option, and your claim was turned down by the Social Security Administration.

If you or your loved one is considering reapplying or appealing the denial, here is an important fact for you to keep in mind that you may not have heard of. The fact of the matter is that people who are represented by a disability attorney like the one you will find at disabilitycasereview.com are approved more often than people who do not have a disability lawyer on their side.

Please do not delay or put this off. This could mean so much to you or your loved one. Contact the disability attorney at disabilitycasereview.com, today.

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Junctional Epidermolysis Bullosa and Receiving Social Security Disability

Wednesday, June 15th, 2011

Epidermolysis bullosa is actually a group of inherited disorders that cause your skin to be extremely fragile. As a result of this, skin blisters form in response to minor injury or heat or friction from rubbing or scratching.

Most of the forms of epidermolysis bullosa show up in infants and young children. However, the signs and symptoms of these disorders may not show up until adolescence or early adulthood in some people who have mild forms of epidermolysis bullosa. The milder forms of epidermolysis bullosa may get better with age, but the severe forms of the disorder can cause serious complications and even be fatal.

Epidermolysis bullosa develops in all racial and ethnic groups. The occurrence of this disorder is about equal in men and women. Fortunately, it is a rare disorder that is estimated to occur in 50 out of every one million live births.

Junctional epidermolysis bullosa is one of the major types of epidermolysis bullosa. It is usually congenital. This means that it is a disorder that is present at birth. Junctional epidermolysis bullosa is usually a severe type of this disorder.

As mentioned at the beginning, junctional epidermolysis bullosa is a genetic inherited disorder. This means that you get it from your parents. The pattern of inheritance is what is known as autosomal recessive. This means that both of your parents have to have the defective (faulty) gene in order for you to have the possibility of having this disorder.

The primary sign or symptom of junctional epidermolysis bullosa is the eruption of fluid-filled blisters (bullae) on your skin. They usually show up on your hands and feet as a result of friction. These blisters typically develop in different areas. The blisters may heal without scarring in the milder forms of this disorder.

There are other signs and symptoms that you may experience with junctional epidermolysis bullosa. Some of these are:

  • Dysphagia (difficulty swallowing)
  • Hyperkeratosis
  • Atrophic scarring
  • Scarring alopecia
  • Excessive sweating
  • Loss or deformity of your toenails and fingernails
  • Milia (tiny white bumps or small cysts on your skin)
  • Dental abnormalities
  • Internal blistering that may occur on your esophagus, stomach, urinary tract, intestines, throat or upper airway.

You or a loved one may be afflicted with junctional epidermolysis bullosa. This disorder  and/or complications that have been brought about by it or other conditions that you have along with this disorder may have caused you or your loved one’s disability and be what is keeping you from working.

You may need help if this is true. You may need financial assistance.

You or your loved one may be planning on applying for the financial help that you need from the Social Security Administration by applying for Social Security disability benefits or disability benefits because of the disability that has been brought about by junctional epidermolysis bullosa and/or complications that have developed from it or other conditions that you have along with this disorder. You may have already taken this step, and your application was denied by the Social Security Administration.

If you or your loved one is thinking about reapplying or appealing the denial, you really should carefully consider this established fact that you may not be aware of. The fact is that people who have a disability lawyer fighting for them like the one you will find at disabilitycasereview.com are approved more often than people who are not represented by a disability attorney.

Please do not wait or put this off until tomorrow. Contact the disability lawyer at disabilitycasereview.com, today.

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Gaucher’s Disease and Receiving Social Security Disability

Monday, December 20th, 2010

Gaucher’s disease, which is also sometimes referred to as glucocerebrosidase deficiency, is a genetic disease. This means that it is an inherited disease. Gaucher’s disease is marked by the accumulation of a fatty substance (lipid)that is called glucocerebroside in your cells and certain organs, including your spleen, liver, kidneys, brain, lungs and bone marrow.

Gaucher’s disease is the most common of the lysosomal storage diseases. It occurs in about 1 in 20,000 live births.

Lysosomal storage diseases are a group of about 40 inherited metabolic conditions that are rare. They result from defects in lysosome function.

Gaucher’s disease can develop in anyone at any age. It is most common in Ashkenazi (Central and Eastern European) Jewish people.

Gaucher’s disease is named after the French doctor Philippe Gaucher. He first described this disease in 1882.

There are three types of Gaucher’s disease. They are:

  • Type 1 – This is the most common type of the disease. This type of Gaucher’s disease causes spleen and liver enlargement. Sometimes it involves kidney and lung difficulties. It does not affect your brain.
  • Type 2 – This type causes severe brain damage. It occurs in infants. Most children with this type of the disease die before reaching 2 years of age.
  • Type 3 – This type involves spleen and liver enlargement. The brain is affected gradually.

The signs and symptoms of Gaucher’s disease may vary greatly from person to person. This is especially true with the different types of this disease. Signs and symptoms that you may experience include:

  • Excessive fatigue
  • Pingueculae (yellow spots in your eyes)
  • Nosebleeds
  • Skeletal abnormalities that include bone fractures, bone pain and osteopenia (thinning of your bones)
  • Cognitive deterioration that includes dementia or mental retardation
  • Delayed puberty
  • Loss of muscle coordination
  • Anemia (decrease in healthy red blood cells)
  • Abnormal eye movements
  • Splenomegaly (enlarged spleen) or hepatomegaly (enlarged liver), or both
  • An increased risk of bruising, which may mean that you have thrombocytopenia (low number of blood platelets).

You or a loved one may have Gaucher’s disease. Gaucher’s disease and/or complications that have resulted from this condition may be the cause of your disability and not being able to work.

You may need assistance because of this. You may need financial help.

You or your loved one may be intending to apply for the financial assistance that you need from the Social Security Administration by applying for Social Security disability benefits or disability benefits because of the disability caused by Gaucher’s disease and/or complications that have resulted from this condition. You or your loved one may have already done this and been denied by the Social Security Administration.

If you or your loved one plans on reapplying or appealing the denial, remember this important fact. The truth is that people who are represented by a disability attorney like the one you will find at disabilitycasereview.com are approved more often than people who do not have a disability lawyer standing with them.

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