| Osteogenesis Imperfecta and Disability Benefits |
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If you suffer from disabling Osteogenesis Imperfecta and can no
longer work a full time work week, I would be happy to help you obtain
your rightful Disability Benefits. You may be eligible for Social Security
Disability benefits, even if you will eventually recover.
Start by filling out the FREE online Social Security Disability Claim
Evaluation Form (see Tab, on Left Hand Navigation), calling me at
201-317-0610 or emailing SsiHelp@ptd.net or sojlaw@ptd.net.
longer work a full time work week, I would be happy to help you obtain
your rightful Disability Benefits. You may be eligible for Social Security
Disability benefits, even if you will eventually recover.
Start by filling out the FREE online Social Security Disability Claim
Evaluation Form (see Tab, on Left Hand Navigation), calling me at
201-317-0610 or emailing SsiHelp@ptd.net or sojlaw@ptd.net.
| What is Osteogenesis Imperfecta? |
Osteogenesis Imperfecta (OI) is a genetic disorder characterized
by fragile bones that break easily. It is also known as “brittle bone
disease.” A person is born with this disorder and is affected
fractures, people with fractures, people with OI often have muscle
weakness, hearing loss, fatigue, joint laxity, fatigue, joint laxity,
curved bones, scoliosis, blue sclerae, curved bones, scoliosis, blue
sclerae, dentinogenesis imperfecta (brittle teeth), and short stature.
Restrictive pulmonary disease occurs in more severely affected
people.
OI is caused by an error, called a mutation, on a gene that affects
the body’s production of the collagen found in bones, and other
tissues. It is not caused by too little calcium or poor nutrition. OI is
variable with 8 different types described in medical literature. The
types range in severity from a lethal form to a milder form with few
visible symptoms. The specific medical problems a person will
encounter will depend on the degree of severity. A person with mild
OI may experience a few fractures while those with the severe forms
may have hundreds in a lifetime.
The number of Americans affected with OI is thought to be 25,000-
50,000. The range is so wide because mild OI often goes
undiagnosed.
Genetics
The majority of cases are caused by a dominant mutation to type 1
collagen (COL1A1 or COL1A2) genes. Other types are caused by
mutations of the cartilage-associated protein (CRTAP) gene or the
LEPRE1 gene. This type of mutation is inherited in a recessive
manner. OI occurs with equal frequency among males and females
and among all racial and ethnic groups. Approximately 35% of
children with OI are born into a family with no family history of OI.
Most often this is due to a new mutation to a gene and not by
anything the parents did before or during pregnancy.
Testing and Diagnosis
Diagnosis for OI is primarily based on signs seen in a doctor’s
examination. When there is uncertainty about the diagnosis, it is
best to consult a physician who is familiar with OI. Genetic testing is
available to confirm a diagnosis of OI through collagen or gene
analysis—a skin sample or a blood sample are used to study the
amount of Type I collagen or to do a DNA analysis.
Types
Since 1979, OI has been classified by type according to a system
based on mode of inheritance, clinical picture, and information from
x-rays. The characteristic features of OI vary greatly from person to
person, even among people with the same type of OI, and even
within the same family. Not all characteristics are evident in each
person. The OI type descriptions provide general information about
how severe the symptoms probably will be. Health issues frequently
seen in children and adults who have OI include:
Short stature
Weak tissues
Fragile skin
Muscle weakness
Loose joints
Bleeding,
Easy bruising,
Frequent nosebleeds and in a small number of people heavy
bleeding from injuries
Hearing loss may begin in childhood and affects approximately 50%
of adults
Breathing problems
Higher incidence of asthma plus risk for other lung problems
Curvature of the spine
Treatment
Doctors who see children and adults with OI include primary care
physicians, orthopedists, endocrinologists, geneticists and
physiatrists (rehabilitation specialists). Other specialists such as a
neurologist may be needed. Treatments focuses on minimizing
fractures, maximizing mobility, maximizing independent function and
general health. Treatments include Physical therapy and safe
exercise including swimming Casts, splints or wraps for broken
bones, Braces to support legs, ankles, knees and wrists as needed,
Orthopedic surgery, often including implanting rods to support the
long bones in arms or legs, Medications to strengthen bones.
Mobility aids such as canes, walkers, or wheelchairs and other
equipment or aids for independence may be needed to compensate
for weakness or short stature.
Treatments Being Studied
Medications: Bisphosphonates such as ©Aredia (pamidronate),
©Fosamax (alendronate) or ©Reclast (zoledronic acid), ©Forteo
(teriparatide injections) for adults only, Growth Hormone, Increased
vitamin D intake, Physical activity. Potential for gene therapy: At this
time, there is no cure.
Prognosis
The prognosis for a person with OI varies greatly depending on the
number and severity of symptoms. Life expectancy is not affected in
people with mild or moderate symptoms. Life expectancy may be
shortened for those with more severe symptoms. The most severe
forms result in death at birth or during infancy. Respiratory failure is
the most frequent cause of death for people with OI, followed by
accidental trauma. Despite the challenges of managing OI, most
adults and children who have OI lead productive and successful
lives. They attend school, develop friendships and other
relationships, have careers, raise families, participate in sports and
other recreational activities and are active members of their
communities.
Managing OI
Techniques for safe handling, protective positioning and safe
movement are taught to parents. Infancy, early childhood and the
pre-teen years are often challenging. Growth and hormonal
changes can affect the frequency of fractures. Children and youth
learn which activities to avoid and how to practice energy
conservation. The number of fractures usually decreases in
adulthood. Following a healthy lifestyle including not smoking, and
maintaining a healthy weight is beneficial.
History of OI in Medical Literature
There is evidence that OI has affected people throughout history. OI
has been recognized in an Egyptian mummy dating from 1000 BC. It
has also been identified as the medical condition suffered by Ivan
the Boneless who lived in 9th century Denmark. Prince Ivan,
according to legend, was carried into battle on a shield because he
was unable to walk on his soft legs. Case studies of fragile bones
and hearing loss have appeared in the medical literature since the
1600s.The term “osteogenesis imperfecta” was originated by W.
Vrolik in 1849, and the condition was loosely divided into
“congenita” and “tarda” by E. Looser in 1906. Van der Hoeve in
1918 described the occurrence of fragile bones, in combination with
blue sclera and early deafness as a distinct inherited syndrome. In
the 1970s, Dr. David Sillence and his team of researchers in
Australia developed the system of categorization using “Types” that
is currently in use. His original four classifications (Type I, Type II,
Type III and Type IV) combine clinical symptoms with genetic
components. This listing is based on the number of people in the
study who had similar symptoms. The types do not go from mildest
to most severe. This classification system has been generally
accepted world wide since 1979 but continues to evolve as new
information is discovered. In recent years, evidence from bone
biopsies and other research led to the addition of Types V, VI, VII
and VIII.
by fragile bones that break easily. It is also known as “brittle bone
disease.” A person is born with this disorder and is affected
fractures, people with fractures, people with OI often have muscle
weakness, hearing loss, fatigue, joint laxity, fatigue, joint laxity,
curved bones, scoliosis, blue sclerae, curved bones, scoliosis, blue
sclerae, dentinogenesis imperfecta (brittle teeth), and short stature.
Restrictive pulmonary disease occurs in more severely affected
people.
OI is caused by an error, called a mutation, on a gene that affects
the body’s production of the collagen found in bones, and other
tissues. It is not caused by too little calcium or poor nutrition. OI is
variable with 8 different types described in medical literature. The
types range in severity from a lethal form to a milder form with few
visible symptoms. The specific medical problems a person will
encounter will depend on the degree of severity. A person with mild
OI may experience a few fractures while those with the severe forms
may have hundreds in a lifetime.
The number of Americans affected with OI is thought to be 25,000-
50,000. The range is so wide because mild OI often goes
undiagnosed.
Genetics
The majority of cases are caused by a dominant mutation to type 1
collagen (COL1A1 or COL1A2) genes. Other types are caused by
mutations of the cartilage-associated protein (CRTAP) gene or the
LEPRE1 gene. This type of mutation is inherited in a recessive
manner. OI occurs with equal frequency among males and females
and among all racial and ethnic groups. Approximately 35% of
children with OI are born into a family with no family history of OI.
Most often this is due to a new mutation to a gene and not by
anything the parents did before or during pregnancy.
Testing and Diagnosis
Diagnosis for OI is primarily based on signs seen in a doctor’s
examination. When there is uncertainty about the diagnosis, it is
best to consult a physician who is familiar with OI. Genetic testing is
available to confirm a diagnosis of OI through collagen or gene
analysis—a skin sample or a blood sample are used to study the
amount of Type I collagen or to do a DNA analysis.
Types
Since 1979, OI has been classified by type according to a system
based on mode of inheritance, clinical picture, and information from
x-rays. The characteristic features of OI vary greatly from person to
person, even among people with the same type of OI, and even
within the same family. Not all characteristics are evident in each
person. The OI type descriptions provide general information about
how severe the symptoms probably will be. Health issues frequently
seen in children and adults who have OI include:
Short stature
Weak tissues
Fragile skin
Muscle weakness
Loose joints
Bleeding,
Easy bruising,
Frequent nosebleeds and in a small number of people heavy
bleeding from injuries
Hearing loss may begin in childhood and affects approximately 50%
of adults
Breathing problems
Higher incidence of asthma plus risk for other lung problems
Curvature of the spine
Treatment
Doctors who see children and adults with OI include primary care
physicians, orthopedists, endocrinologists, geneticists and
physiatrists (rehabilitation specialists). Other specialists such as a
neurologist may be needed. Treatments focuses on minimizing
fractures, maximizing mobility, maximizing independent function and
general health. Treatments include Physical therapy and safe
exercise including swimming Casts, splints or wraps for broken
bones, Braces to support legs, ankles, knees and wrists as needed,
Orthopedic surgery, often including implanting rods to support the
long bones in arms or legs, Medications to strengthen bones.
Mobility aids such as canes, walkers, or wheelchairs and other
equipment or aids for independence may be needed to compensate
for weakness or short stature.
Treatments Being Studied
Medications: Bisphosphonates such as ©Aredia (pamidronate),
©Fosamax (alendronate) or ©Reclast (zoledronic acid), ©Forteo
(teriparatide injections) for adults only, Growth Hormone, Increased
vitamin D intake, Physical activity. Potential for gene therapy: At this
time, there is no cure.
Prognosis
The prognosis for a person with OI varies greatly depending on the
number and severity of symptoms. Life expectancy is not affected in
people with mild or moderate symptoms. Life expectancy may be
shortened for those with more severe symptoms. The most severe
forms result in death at birth or during infancy. Respiratory failure is
the most frequent cause of death for people with OI, followed by
accidental trauma. Despite the challenges of managing OI, most
adults and children who have OI lead productive and successful
lives. They attend school, develop friendships and other
relationships, have careers, raise families, participate in sports and
other recreational activities and are active members of their
communities.
Managing OI
Techniques for safe handling, protective positioning and safe
movement are taught to parents. Infancy, early childhood and the
pre-teen years are often challenging. Growth and hormonal
changes can affect the frequency of fractures. Children and youth
learn which activities to avoid and how to practice energy
conservation. The number of fractures usually decreases in
adulthood. Following a healthy lifestyle including not smoking, and
maintaining a healthy weight is beneficial.
History of OI in Medical Literature
There is evidence that OI has affected people throughout history. OI
has been recognized in an Egyptian mummy dating from 1000 BC. It
has also been identified as the medical condition suffered by Ivan
the Boneless who lived in 9th century Denmark. Prince Ivan,
according to legend, was carried into battle on a shield because he
was unable to walk on his soft legs. Case studies of fragile bones
and hearing loss have appeared in the medical literature since the
1600s.The term “osteogenesis imperfecta” was originated by W.
Vrolik in 1849, and the condition was loosely divided into
“congenita” and “tarda” by E. Looser in 1906. Van der Hoeve in
1918 described the occurrence of fragile bones, in combination with
blue sclera and early deafness as a distinct inherited syndrome. In
the 1970s, Dr. David Sillence and his team of researchers in
Australia developed the system of categorization using “Types” that
is currently in use. His original four classifications (Type I, Type II,
Type III and Type IV) combine clinical symptoms with genetic
components. This listing is based on the number of people in the
study who had similar symptoms. The types do not go from mildest
to most severe. This classification system has been generally
accepted world wide since 1979 but continues to evolve as new
information is discovered. In recent years, evidence from bone
biopsies and other research led to the addition of Types V, VI, VII
and VIII.
| MySsiCase.com |
| Stephanie O. Joy, Esq. Helping clients, one-on-one, in all 50 U.S. States Ph: 201-317-0610 Email: SsiHelp@ptd.net Fax: 570-424-2384 |
