Osteogenesis Imperfecta Type Ii
Osteogenesis Imperfecta is a congenital condition causing extremely brittle, fragile bones. It is often caused by a defect in the gene that produces type 1 collagen, which is a major building block for the bones. Since there are multiple defects that can affect this gene, there are at least 8 different types of OI. Type II is the most severe. Children born with OI Type II have very short limbs, small chests and softened skulls. Their lungs are usually very underdeveloped, leaving them prone to infections. The sclera is usually dark blue or gray. Bone fractures are often detectable with ultrasound before birth.
OI Type II has no known cure at this time. Some osteoporosis medications have been used to address some of its symptoms. There are also therapies that may help to minimize some of the pain and other complications that accompany OI. Unfortunately, children born with OI Type II often dont survive past their first birthday, usually as a result of breathing problems.
Chromosomes Genes And Alleles
Most animals and some plants have paired , and are described as diploid. They have two versions of each chromosome, one contributed by the mother’s , and the other by the father’s , known as , described as haploid, and created through . These gametes then fuse during during , into a new single cell , which divides multiple times, resulting in a new organism with the same number of pairs of chromosomes in each cell as its parents.
Each chromosome of a matching pair is structurally similar to the other, and has a very similar ” rel=”nofollow”>loci, singular locus). The DNA in each chromosome functions as a series of discrete that influence various traits. Thus, each gene also has a corresponding homologue, which may exist in different versions called . The alleles at the same locus on the two homologous chromosomes may be identical or different.
The of a human is determined by a gene that creates an blood type and is located in the long arm of chromosome nine. There are three different alleles that could be present at this locus, but only two can be present in any individual, one inherited from their mother and one from their father.
What Providers Treat Osteogenesis Imperfecta
People with OI need ongoing care throughout their lives. Your medical team might include:
- Primary care provider or pediatrician.
- Audiologists to diagnose and treat hearing problems and prescribe hearing aids .
- Dental providers, including orthodontists and oral-maxillofacial surgeons.
- Occupational therapists.
- Orthopaedists, specialized doctors who diagnose and treat bone and joint problems and bone breaks, including performing surgery.
- Physical therapists.
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An Urgent Need For Awareness About Brittle Bone Disease
Archana Palahalli is the founder of Indian Osteognesis Imperfecta Foundation. Archana did not let a disability stop her from doing what she loves best and social work it is!
In India, there is a serious lack of awareness about OI. Concerned departments must step up and do their bit. This includes government officials, NGOs and even medical staffs. We must all work together. In rural areas, people do not have any awareness about OI. So things are worse for those who have been diagnosed with it. There are only primary health centers which do not have any medical facilities, she says.
22-year-old Fathima Asla is a medical student from Kerala who was diagnosed with OI a few days after birth. Her father was also diagnosed with the same condition. Asla says, I feel people are now being more aware about the condition. More people know that this is a genetic problem. Earlier, they were unaware or least bothered. So this is something positive.
Benefits For Osteogenesis Imperfecta Type Ii
Finding out that your long-awaited new baby has a rare disease or disorder is probably the most frightening thing that can happen to a parent. The stress of knowing that your new child is suffering along with the frustration of not knowing how to help can be overwhelming. When the accompanying potential financial struggles are added in, suddenly the world feels as though it is collapsing around you. Fortunately, the Social Security Administration has enacted the Compassionate Allowance program to help ease the financial burden on families or individuals dealing with a debilitating condition.
Usually, the process of obtaining Social Security disability benefits can be time-consuming and filled with frustration. Collecting the correct documentation can become a daunting task. Even after all of these documents are gathered and submitted, it can potentially be months before a decision is rendered. More often than not, the initial disability claim is denied, resulting in the necessity to begin the appeal process, followed by another wait for the next hearing, which may or may not have a successful outcome. Its not difficult to imagine that the ensuing appeal/denial/hearing cycle can drag on for a very long time. However, if you or your child has been diagnosed with a condition that qualifies under the Compassionate Allowance program, this process can be shortened considerably, allowing your family to begin receiving disability benefits in a timely manner.
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Dna Sequencing And Genomics
, one of the most fundamental technologies developed to study genetics, allows researchers to determine the sequence of nucleotides in DNA fragments. The technique of , developed in 1977 by a team led by , is still routinely used to sequence DNA fragments. Using this technology, researchers have been able to study the molecular sequences associated with many human diseases.
As sequencing has become less expensive, researchers have of many organisms using a process called , which utilizes computational tools to stitch together sequences from many different fragments. These technologies were used to sequence the in the completed in 2003. New technologies are dramatically lowering the cost of DNA sequencing, with many researchers hoping to bring the cost of resequencing a human genome down to a thousand dollars.
came about due to the ever-increasing demand for low-cost sequencing. These sequencing technologies allow the production of potentially millions of sequences concurrently. The large amount of sequence data available has created the subfield of , research that uses computational tools to search for and analyze patterns in the full genomes of organisms. Genomics can also be considered a subfield of , which uses computational approaches to analyze large sets of . A common problem to these fields of research is how to manage and share data that deals with human subject and .
What Is The Treatment For Epidermolysis Bullosa
Medication is often needed to relieve the pain. Antidepressants, medicine used to treat epilepsy, and acetaminophen can be helpful. If the pain is severe, medicine like fentanyl, morphine, or ketamine can be prescribed. Before bathing and wound care, it may be necessary to give pain medication to someone with EB.
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What Else Should I Ask My Healthcare Provider
You may also want to ask your healthcare provider:
- What should I know about my childs life expectancy with OI?
- How can I help my child manage OI symptoms?
- What should I do if my child breaks a bone?
- What are the chances that I will have another child with osteogenesis imperfecta?
A note from Cleveland Clinic
Osteogenesis imperfecta is a genetic bone disease. People born with the condition have bones that break easily. There are several types of osteogenesis imperfecta. Some types are more severe. Babies born with severe OI often dont live past a few days or weeks of life. Other OI types are manageable. Babies born with mild types of OI can live healthy lives into adulthood. Osteogenesis imperfecta treatment focuses on increasing bone strength and improving quality of life.
Last reviewed by a Cleveland Clinic medical professional on 05/05/2021.
References
Brittle Bone Disease Life Expectancy
With good medical management and supportive care, the majority of people who have brittle bone disease will lead healthy, productive lives and can expect an average life span.
Permanent deformity of the extremities may occur. Brain damage may result from skull fractures. The disorder can be fatal. The disease is grouped by type:
- Brittle bone disease type 1 : Mild Compatible with normal life expectancy. Fractures occur throughout life, but deformity is uncommon. Features include blue sclerae, hypermobile joints, hearing loss and scoliosis.
- Brittle bone disease type 2 : Lethal Most, but not all, die in early childhood. Severe deformity is common, and infants generally do not survive long after birth.
- Brittle bone disease type 3 : Progressive deforming Decreased life expectancy. It is characterized by bones that fracture easily and also bend. By the age of 6 years, the child has usually had multiple fractures and developed severe deformities. Children surviving till adulthood usually have short stature and disability.
- Brittle bone disease type 4: Moderately severe Compatible with normal life expectancy. In terms of severity lies somewhere in between types 1 and 3. Fractures are common before puberty. Sclerae are pale blue and become normal in color in adult life.
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Mass Effect Features Gaming’s Best Portrayal Of Disability
BioWare’s Mass Effect does an excellent job with disability representation, through Normandy pilot Jeff “Joker” Moreau.
BioWare’s;Mass Effect;does an excellent job with disability representation, primarily through the Normandy’s expert pilot, Joker. Joker has brittle bone disease but is never treated lesser for it. Although he is;technically a secondary character, he is as fully fleshed out as anyone else in the games and is written as a person, rather than a trope.
While most players first meet Jeff “Joker” Moreau through the first Mass Effect, his backstory starts in a comic titled Mass Effect: He Who Laughs Best, which;dives into how he became the Normandy SR-1’s pilot. In the comic, J oker flies Turian General Invectus to Arcturus Station to choose a pilot for the newly-finished Normandy. In an attempt to make small talk, Joker reveals he applied for the job; General Invectus says he would never let a “cripple” pilot the ship. It’s a harsh remark that Joker takes to heart in a somewhat surprising way:;He steals;the Normandy and completes the test course, while evading efforts to bring the ship down.
Although Joker is arrested for the stunt, it proves his commitment to the job and shows off his flight skills. The general changes his mind on the spot and offers Joker the position. No one will be a better pilot for the Normandy.
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Recombination And Genetic Linkage
The diploid nature of chromosomes allows for genes on different chromosomes to or be separated from their homologous pair during sexual reproduction wherein haploid gametes are formed. In this way new combinations of genes can occur in the offspring of a mating pair. Genes on the same chromosome would theoretically never recombine. However, they do, via the cellular process of . During crossover, chromosomes exchange stretches of DNA, effectively shuffling the gene alleles between the chromosomes. This process of chromosomal crossover generally occurs during , a series of cell divisions that creates haploid cells. , particularly in microbial , appears to serve the adaptive function of repair of DNA damages.
The first cytological demonstration of crossing over was performed by Harriet Creighton and in 1931. Their research and experiments on corn provided cytological evidence for the genetic theory that linked genes on paired chromosomes do in fact exchange places from one homolog to the other.
Genes generally their functional effect through the production of , which are complex molecules responsible for most functions in the cell. Proteins are made up of one or more polypeptide chains, each of which is composed of a sequence of , and the DNA sequence of a gene is used to produce a specific . This process begins with the production of an molecule with a sequence matching the gene’s DNA sequence, a process called .
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Types Of Brittle Bone Disease
There are four different genes responsible for collagen production, and any combination, or all, of them can be affected. These combinations produce eight types of brittle bone disease, labeled as type 1 OI through type 8 OI. The first four types are the most common. The last four types are extremely rare and most are subtypes of type 4 OI. Details for each type include:
Type 1
Type 1 OI is the mildest and most common form of brittle bone disease your baby can have. With this type, your childs body produces normal quality collagen, but just not enough of it. This results in only mildly fragile bones. Children with type 1 OI typically experience bone fractures due to mild traumas. Such bone fractures are much less common in adults. The teeth may also be affected, resulting in dental cracks and cavities.
Type 2
Type 2 OI, the most severe form of brittle bone disease, is fatal. In type 2 OI, your childs body either produces poor-quality collagen or not enough of it. Type 2 OI can produce bone deformities. Infants born with type 2 OI may have narrowed chests, broken or misshapen ribs, and underdeveloped lungs. Babies with type 2 OI die either in the womb or shortly after birth.
Type 3
Type 4
Relationship To Other Genetic Concepts
Although any individual of a diploid organism has at most two different alleles at any one locus , most genes exist in a large number of allelic versions in the population as a whole. If the alleles have different effects on the phenotype, sometimes their dominance relationships can be described as a series.
For example, coat color in domestic cats is affected by a series of alleles of the TYR gene . The alleles C, cb, cs, and ca #Genetics” rel=”nofollow”>Burmese, , and , respectively) produce different levels of pigment and hence different levels of colour dilution. The C allele is completely dominant over the last three and the ca allele is completely recessive to the first three.
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How Is Osteogenesis Imperfecta Treated
The goal of treatment is to increase bone strength and help people with OI live more independently. Osteogenesis imperfecta treatment may include:
- Occupational therapy : OT addresses fine motor skills, such as buttoning your shirt or tying your shoes.
- Physical therapy : Physical therapists prescribe exercises that increase strength, flexibility and range of motion.
- Assistive devices: Aids such as walkers, canes or crutches can improve mobility.
- Oral and dental care: OI can lead to tooth chipping, color changes or decay. People with the condition need regular dental checkups.
- Medications: Depending on your symptoms, your provider may prescribe medicines that slow bone loss or treat pain.
Filing For Social Security Disability With Osteogenesis Imperfecta Type Ii
A child who has been diagnosed with Osteogenesis Imperfecta Type II will qualify for disability, since OI Type II is listed as one of the conditions that qualify for a compassionate allowance. As a result, your application for disability benefits will go through an expedited process so that you and your family can begin getting some financial help to at least soften the blow of such a dreadful diagnosis.
Although a diagnosis of OI Type II automatically qualifies for a compassionate allowance, you would still be very well-advised to enlist the assistance of a Social Security disability lawyer. A disability lawyer will be able to review your application and ascertain that you have obtained all of the proper documentation, including any diagnostic information required by the SSA so that your claim can be processed in the shortest time possible.
When you file for disability for a child diagnosed with OI Type II, it may be necessary to confirm the diagnosis through genetic testing so that the specific gene mutations can be detected.
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When Was Brittle Bone Disease Discovered
4.3/5Lobstein disease
It is characterised by bones that fracture easily and also bend. By the age of 6 years, the child has usually had multiple fractures and developed severe deformities. Children surviving till adulthood usually have short stature and disability.
Likewise, what is the history of brittle bone disease? 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.
Similarly one may ask, what is the life expectancy of someone with brittle bone disease?
The prognosis for infants with the most severe form of osteogenesis imperfecta is poor, and most children may not live beyond a few weeks. The prognosis for those with milder forms of the condition who receive good medical management is much better, and many people may have average lifespans.
What gene causes brittle bone disease?
Brittle bone disease is caused by a defect, or flaw, in the gene that produces type 1 collagen, a protein used to create bone. The defective gene is usually inherited. In some cases, however, a genetic mutation, or change, can cause it.
Brittle Bone Disease Type 3
Brittle bone disease type 3 is the most severe type among children who survive the neonatal period. The degree of bone fragility and the fracture rate vary widely. Brittle bone disease type 3 is characterized by structurally defective type 1 collagen. This poor quality type 1 collagen is present in reduced amounts in the bone matrix.
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Your Type Ii Osteogenesis Imperfecta Social Security Disability Case
Although Type II Osteogenesis Imperfecta is one of the 88 conditions that qualifies a disability claim for processing under the Compassionate Allowances guidelines, that does not mean that your child’s claim will be automatically approved by the Social Security Administration. While many Compassionate Allowances claims are approved without any complication, some claims have been denied in the past. This is usually due to an improperly completed application or a lack of Compassionate Allowances knowledge on the part of the adjudicator reviewing the file.
If you want to increase your chances of obtaining an expedited approval of your child’s Social Security Disability benefits, you should consider retaining the services of a qualified disability attorney or advocate. These professionals can help you prepare your child’s disability application and will ensure that it is presented in the best light possible to the Social Security Administration. Your attorney or advocate can also ensure that your file is presented in such a way that the adjudicator reviewing your child’s claim fully understands how the application qualifies for processing under the Compassionate Allowances guidelines.
To learn more about the Social Security Compassionate Allowance listings or to find out whether your child may qualify for Social Security Disability benefits due to a case of Type II Osteogenesis Imperfecta, submit a free disability evaluation today.