Category Archives: Mobility

Mobility needs for wheelchair users including wheelchair vans, ramps, foot and hand controls.

Schwartz Jampel Syndrome

Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism). Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may cause impaired vision. The range and severity of symptoms may vary from case to case. Two types of the disorder have been identified that may be differentiated by age of onset and other factors. SJS type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy or childhood. SJS type 2, a more rare form of the disorder, is typically recognized at birth (congenital). Most researchers now believe that SJS type 2 is actually the same disorder as Stuve-Wiedemann syndrome and not a form of SJS. (For more information on Stuve-Wiedemann syndrome see the Related Disorders section of this report.)

SJS is thought to be inherited as an autosomal recessive trait. However, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern.

Synonyms

chondrodystrophic myotonia
myotonic myopathy, dwarfism, chondrodystrophy, ocular & facial anomalies
Schwartz-Jampel-Aberfeld syndrome
SJA syndrome
SJS

Disorder Subdivisions

Schwartz-Jampel syndrome, type 2
Schwartz-Jampel syndrome, types 1A and 1B

Organizations related to Schwartz Jampel Syndrome
**Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., visual handicaps, short stature, risk for malignant hyperthermia, etc.].

What is A New/Used Wheelchair van?

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VMi New England Wheelchair vans & ramp:Lift options
When shopping for a new or pre-owned wheelchair van at a mobility dealership, you may hear or read the term “New/Used”. Sounds confusing, right? The term New/Used describes an accessible vehicle for sale that has a new conversion added to a pre-owned used minivan. These vehicles tend to have less than 40,000 miles and are only 2-3 years old. The reason they tend to be newer and with very few miles is that conversion manufacturers want quality vans that are going to provide reliable transportation for many years to come. New/Used van conversions can be side entry or rear entry, with most having a fold-out ramp (vs. an in-floor ramp). A VMI Summit on a Dodge Grand Caravan is just one example of a fold-out ramp conversion. Folding wheelchair ramps on a minivan can be powered or manual. Powered ramps are operated with a push-button inside the vehicle, a key fob or both.

Deciding whether to buy a new or used wheelchair van can be a difficult decision. Your choice may depend on how often or how far you plan to travel every year, whether you are the driver (with the use of hand controls) or passenger, and your preferences for a specific conversion, make or color. A lot of people want all of the latest electronic accessories and gadgets that can only be found in a new vehicle — but they also want something in a used vehicle’s price range. New/Used vehicles provide an “almost new” vehicle at significant cost savings – and may have all of the amenities that you’re are looking for.

Fully Accessible Playground

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Fully Accessible Playground
Sudbury has a completely accessible play area that allows anyone with disabilities to be a part of a community area and develop physically, socially, and emotionally. Children and youth with an without disabilities now have an opportunity to develop tolerance, awareness, and compassion for others in a fun and socially positive atmosphere. Parents are able to walk or wheel onto the structures to play with their children and the wheelchair friendly surface allows children and parents to move about the playground with ease. The playground is located across the street from the Fairbank Community Center at Haskell Field. GPS 40 Fairbank Road Sudbury, MA 01776

Inclusive and Adaptive Recreation
The Adaptive Sports & Recreation Program at the Sudbury Park & Recreation Department is committed to providing year round, affordable, community based programming for individuals with disabilities. Offering comprehensive and varied programs of recreation activities as well as resources for residents, we truly recognize the importance of recreation and leisure in the lives of all community members. The Adaptive Sports & Recreation program strives to improve the quality of life for children and adults with disabilities through continued and successful involvement in sports and recreation programs here in their own back yard.

Program goals include:

To increase the participation of children and adults with disabilities in existing parks and recreation programs.
To provide person-centered, individualized support to meet the needs of the participating individual.
To enhance the physical, mental, emotional, and social well-being of children and adults with disabilities via their participation in the recreation activities provided by the department.
To increase the independence, confidence, and self-esteem of the children and adults with disabilities taking part in the department’s programs.
To provide opportunities for people with disabilities to cultivate new recreational interests, meet new people, and possibly develop new friendships.
To advocate for individuals with disabilities’ rights to recreation participation, community access, and community involvement.

Osteoporosis Awareness

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Osteoporosis Awareness 2014
General Facts

Osteoporosis is a disease of the bone that makes a person’s bones weak and more likely to break. Approximately 9 million Americans have osteoporosis and another 43 million have low bone density, placing them at increased risk.
This means that nearly 60% of adults age 50 and older are at risk of breaking a bone and should be concerned about bone health.
One in two women and up to one in four men will break a bone in their lifetime due to osteoporosis. For women, the incidence is greater than that of heart attack, stroke and breast cancer combined.
There is no cure for osteoporosis, but there are steps you can take to prevent, slow or stop its progress. Diet, exercise and a healthy lifestyle are keys to preventing and managing the disease.
NOF recommends five steps to improve bone health and prevent osteoporosis:
1. Get the calcium and vitamin D you need every day.
2. Do regular weight-bearing and muscle-strengthening exercises.
3. Don’t smoke and don’t drink too much alcohol.
4. Talk to your healthcare provider about your chance of getting osteoporosis and ask when you should have a bone density test.
5. Take an osteoporosis medication when it’s right for you.

About Osteoporosis
Osteoporosis is a disease of the bone.

Osteoporosis is often called a “silent disease” because you cannot feel your bones getting weaker.
You may not even know you have osteoporosis until after you break a bone.

Osteoporosis is serious, even deadly.

A woman’s risk of hip fracture is equal to her combined risk of breast, uterine and ovarian cancer.
A man is more likely to break a bone due to osteoporosis than he is to get prostate cancer.
24 percent of hip fracture patients age 50 and over die in the year following the fracture.
Six months after a hip fracture, only 15 percent of patients can walk across a room unaided.
Every year, of nearly 300,000 hip fracture patients, one-quarter end up in nursing homes and half never regain previous function

Osteoporosis is costly.

Osteoporosis-related bone breaks cost patients, their families and the healthcare system $19 billion annually.
By 2025, experts predict that osteoporosis will be responsible for three million fractures resulting in $25.3 billion in costs.

Osteoporosis is preventable.

About 85-90 percent of adult bone mass is acquired by age 18 in girls and 20 in boys.
Building strong bones during childhood and adolescence can help prevent osteoporosis later in life.
NOF recommends five steps to improve bone health and prevent osteoporosis:
1. Get the calcium and vitamin D you need every day.
2. Do regular weight-bearing and muscle-strengthening exercises.
3. Don’t smoke and don’t drink too much alcohol.
4. Talk to your healthcare provider about your chance of getting osteoporosis and ask when you should have a bone density test.
5. Take an osteoporosis medication when it’s right for you.

Osteoporosis is manageable.

Although there is no cure for osteoporosis, there are steps you can take to prevent, slow or stop its progress. Eating a healthy diet and exercising regularly can help slow or stop the loss of bone mass and help prevent fractures.
About half of osteoporosis-related repeat fractures can be prevented with appropriate treatment.
A bone density test is the best way to diagnose osteoporosis and determine a treatment plan. If your T-score is-2.5 or lower, indicating that you have osteoporosis, or if you have other significant risk factors for breaking a bone, talk to your healthcare provider about starting an osteoporosis treatment plan that includes taking an osteoporosis medicine.
In choosing an osteoporosis medication, be sure to discuss the risks and benefits of all treatment options with your healthcare provider to determine which treatment plan is best for you.
In order for your medicine to work, it’s important to exercise regularly an make sure you get the recommended amount of calcium and vitamin D every day from food and supplements.
Once you start taking an osteoporosis medicine, your bone density test by central DXA should be repeated at least every two years to monitor its effects. After starting a new osteoporosis medicine, many healthcare providers will repeat a bone density test after one year.

Huntington’s Disease Awareness

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What is Huntington’s Disease?
Huntington’s disease (HD) is an inherited brain disorder that results in the progressive loss of both mental faculties and physical control. Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25 year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complication.

Everyone has the HD gene but it is those individuals that inherit the expansion of the gene who will develop HD and perhaps pass it onto each of their children.

Presently, there is no cure. Although medications can relieve some symptoms, research has yet to find a means of slowing the deadly progression of HD.

Current estimates are that 1 in every 10,000 Americans has HD and more than 250,000 others are at-risk of having inherited it from a parent. Once thought a rare disease, HD is now considered one of the more common hereditary diseases.

Every person who inherits the expanded HD gene will eventually develop the disease.
Over time, HD affects the individual’s ability to reason, walk and speak

Symptoms Include:

Personality changes, mood swings and depression
Forgetfulness and impaired judgment
Unsteady gait and involuntary movements
Slurred speech and difficulty in swallowing

The Scope of HD
Approximately 30,000 Americans have HD, but the devastating effects of the disease touch many more. Within a family, multiple generations may have inherited the disease. Those at-risk may experience tremendous stress from the uncertainty and sense of responsibility. In the community, lack of knowledge about HD may keep friends and neighbors from offering social and emotional support to the family, fostering unnecessary isolation. The Huntington’s Disease

Society of America (HDSA) has a nationwide network that provides support and referrals for individuals with HD and their families.

Genetic Testing for HD
Individuals can be tested for the gene that causes HD. The test may be used to confirm a diagnosis of HD, but may also be used as a predictive test before symptoms arise. Some individuals at-risk for HD feel that it is important to know whether they carry the gene. Others ultimately choose not to be tested. While the actual procedure is simple, the decision to have the test is not. HDSA recommends that persons wishing to undergo presymptomatic testing for HD do so at one of our HDSA Centers of Excellence, or at a testing center with specific training in working with HD. A list of these testing centers is available from HDSA

HD affects both sexes and all races and ethnic groups around the world.
The Decision to test is highly personal and should never be rushed or forced.

Who is At-Risk?
Every child of a parent with HD has a 50/50 chance of inheriting the expanded gene that causes the disease. If the child has not inherited this expanded gene, he or she will never develop the disease and cannot pass it on to their children.

Genetic Information Nondiscrimination Act of 2008 (GINA)
The Genetic Information Nondiscrimination Act (GINA) protects people from discrimination by health insurers and employers on the basis of their DNA information. This federal law also enables individuals to take part in research studies without fear that their DNA information might be used against them by health insurers or in the workplace.

However, GINA protections do not extend to long term care, disability or life insurance policies. Anyone contemplating testing should first consider adding one or more of these types of policies before starting the testing process.

Advocacy
HDSA advocacy works to advance legislation and policy to improve the lives of HD families by raising awareness about HD in the U.S. Congress, by promoting legislation, policy and regulations that would help individuals in the HD community, by educating Federal agencies about HD, and by partnering and collaborating with national organizations that have common goals. Learn more at www.hdsa.org/advocacy.

Join us in the fight against HD
YOU can help HDSA in our efforts to end HD and provide resources for those who must face this disease daily. Both funds and volunteers are needed. Contact the HDSA National Office to find out how YOU can help.

HD does not skip generations; if one does not inherit the expanded gene, one cannot pass it on

An End To HD?
In 1993, researchers identified the gene that causes HD. Since then, research has moved quickly towards developing treatments and, ultimately, a cure. HDSA supports the goals of clinical and basic research at leading research facilities globally.

Clinical and observational trials are an important way you can help to sustain the momentum of HD research and move potential new therapies through the approval process. Visit the Research section of the HDSA website for more information and to find a trial in your area. There are opportunities for all HD family members – gene positive, at-risk, gene negative, and caregivers – to participate.

About HDSA
The Huntington’s Disease Society of America (HDSA) is the largest 501(C)(3) non-profit volunteer organization dedicated to improving the lives of everyone affected by Huntington’s disease. Founded in 1968 by Marjorie Guthrie, wife of folk legend Woody Guthrie who lost his battle with HD, the Society works tirelessly to provide family services, education, advocacy and research to provide help for today, hope for tomorrow to the more than 30,000 people diagnosed with HD and the 250,000 at-risk in the United States.

Where to find help
You are not alone in facing HD. HDSA has developed a nationwide network that includes Chapters and Affiliates, HDSA Centers of Excellence, Support Groups, and Social Workers that are ready to assist you with referrals and resources in your area. To learn more, please visit www.hdsa.org or call 888-HDSA-506.

Research worldwide is working to unlock the mystery of HD and find a cure