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Brittle Bone Disease, Marfan Syndrome, & Other Chronic Disorders

Brittle Bone Disease

Osteogenesis imperfecta (OI), also known as ‘brittle bone disease’ or Lobstein Syndrome,  is a genetic bone disorder that results in bone weakness and/or easy breakage.  OI is caused by a genetic defect which affects the way the human body produces collagen, a substance that keeps bones strong and affects the quality of connective tissue.

There are eight types of OI, Type I being the most common, with variations of symptoms both between and among the different types in terms of severity and presentation. It is unknown exactly how many individuals are affected with OI, but in the United States the number is thought to be somewhere between 20,000 and 50,000. This genetic defect is almost always inherited from at least one parent although it can also occur through sporadic gene mutation, though this is rare. A person with OI caused by a dominant mutation has a 50% chance of passing the disorder on genetically.

A student with Osteogenesis Imperfecta may require few, if any accommodations or many depending on the type and severity of the diagnosis. These accommodations are also likely to change semester-to-semester and year-to-year. (source)

Considerations may include:
  • Serious fracture may necessitate withdrawing from part of a semester.
  • Mobility aids – wheelchair, walker, and crutches – might be needed daily or only occasionally.
  • Some required courses may not be appropriate i.e., Physical Education.
  • Short stature and/or muscular weakness may require some adaptations in seating, building entrance/egress (heavy doors), restrooms, dorm, and dining hall.
  • Accommodations for hearing loss may be needed  (Hearing loss in young adults with OI can be mild to severe).
  • Note-taking assistance may be needed.
  • Accessible parking and/or on campus transportation to classrooms, dorms, student center, dining halls, and sports center.

As always, the course of action and accommodations will be dependent upon individual circumstances.

If you have any additional questions or concerns about this or any other disability, please contact Disability Services.

Additional Resources:

Osteogenesis Imperfecta Foundation

U.S. National Library of Medicine

Marfan Syndrome

Marfan syndrome is a genetic condition causing a breakdown of connective tissues which hold the body and its organs together. Because connective tissue is found throughout the body, symptoms vary greatly and can affect multiple body systems such as the heart and blood vessels, skin, eyes, nervous system, lungs, and skeleton. This disorder occurs in approximately 1 in 5,000 individuals worldwide, appearing in men and women and children, in all races and ethnicities. Symptoms usually progress with age. Because the condition is genetic, a child of a person who has Marfan syndrome has a 50% chance of inheriting the disease.

There is currently no cure for Marfan syndrome, and in order to discover one, researchers would need to find and isolate the gene responsible for the defect, and then alter it before birth. There are some treatment options ranging from eyeglasses and orthopedic braces to surgery to correct deformations. For some heart valve defects, beta-blockers may help to reduce stress on the heart or a valve replacement may improve health conditions. Treatment will vary widely due to differences in presentation and the evolution of this disease.

Students with Marfan syndrome may need accommodations to offset vision impairment, fatigue, or issues with physical size. (Some individuals with Marfan syndrome are very tall, long and lean, with longer limbs.)   They may require more ergonomic support for skeletal concerns such as a weak back or curved spine.

For one college student's story see The Face and Life of Marfan Syndrome.

Additional Resources:

National Marfan Foundation

U.S. National Library of Medicine (NIH)

Tremors

Tremors are “unintentional, somewhat rhythmic, muscle movement involving to-and-fro movements (oscillations) of one or more parts of the body.” Though the most commonly affected area are the hands, tremors can also occur in the legs, head, face, trunk, and vocal chords. There are many physical and medical disabilities that can complicate an educational experience. Often times these types of disabilities compromise mobility or create temporary absences from schooling, however, some disabilities lead to near constant issues in many aspects of functioning.  The concern of chronic tremors can frequently fall into this latter group.

Tremors themselves are not life threatening, but are often times symptomatic of a possibly serious neurological condition. The most well known disorders causing tremors are Parkinson’s disease and multiple sclerosis, but the problem can also arise from stroke, traumatic brain injury, and many neurodegenerative diseases that result in disturbances in parts of the brainstem or the cerebellum. Other causes include taking medicines such as amphetamines, corticosteroids, and some psychoactive medicines, liver failure, overactive thyroid, mercury poisoning, and alcohol abuse/withdrawal. There are even tremors that occur in otherwise healthy individuals, with no known cause, though these tremors are most often inherited.

There are two main types of tremors based on presentation characteristics. Rest tremors occur when the muscles of the affected area are not being used, and the area is resting against a surface. Rest tremors will usually lesson or stop when the muscles are being used. This type is seen most often in patients with Parkinson’s disease. Conversely, action tremors occur when the muscle is activated. There are three subtypes of action tremors. Postural tremors occur during voluntarily maintenance of a position against gravity and require voluntary or purposive contraction of muscles. The most common example of this type of tremor is shaky hands while arms are outstretched. Kinetic tremors (or movement tremors) occur during muscle movement, and are often comorbid in those with a postural tremor. Kinetic tremors can sometimes be task specific, often referred to as occupational tremors, and present only during certain actions such as writing. The final subtype is intention tremors, which are those that become exaggerated when the limb is directed towards a particular target, such as finger to nose movements. This type may indicate a problem in the cerebellum and the cerebellum's connections to other parts of the nervous system, and are therefore important to differentiate.

Tremors can greatly affect the performance in an educational and occupational setting, and the issues and the need for accommodation can vary greatly depending on the severity of the tremors, as well as tremor type. Severity can vary by incidence, within and across types and causes, and even on a personal level over time. For all types of tremors, stress and anxiety, blood sugar, and fatigue can lead to an increase in severity, as can blood sugar and fatigue. This can lead to an unpredictability and cause great difficulty and embarrassment during day-to-day life. Depending on type and severity, tremors can lead to difficulty typing, writing, eating, reading, walking, driving, concentrating, seeing, talking, and a variety of other tasks.

There are no known cures for tremors, but depending on the cause there are various treatments that may reduce severity and rate of occurrence. Those with tremors should avoid caffeine, reduce alcohol intake, strive to get adequate sleep, and find ways to reduce stress (such as regular exercise). In an educational setting, tremors can be accommodated by allowing breaks during exams or other stressful events as needed, allowing deadline extensions during periods of severe and chronic tremors, and allowing laptops if they are otherwise not allowed. The proper accommodation though, as with all disabilities, varies by from person to person.

If you have any questions about disabilities, please contact Disability Services.

National Tremor Foundation
CNN Health: Essential Tremor
NIH: NINDS: Tremor Fact Sheet