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Rett Syndrome Awareness

What is Rett Syndrome?
Rett syndrome is a postnatal neurological disorder seen almost always in girls, but can be rarely seen in boys. It is not a degenerative disorder.

Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.


Testing and Diagnosis
Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared over time. Today, we have a simple blood test to confirm the diagnosis. However, since we know that the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both. Below is a list of labs to share with your ordering physician that can do the MECP2 sequencing + deletion analysis, and the list of diagnostic criteria.

Accessible Fun Family Summer Activities

Picnics in the park are a great way to have a nice and affordable time with your family. Most parks are also easily accessible for those in wheelchairs, so pack your favorite snacks and just enjoy the amazing weather. Some local parks will have music playing, or community events that the whole family can enjoy—some even welcome dogs so you can enjoy the day with your furry friend.

Why not take a trip to a museum? Not only are most museum entrance fees affordable, but also this idea is a great way for you and your family to discover foreign cultures, classic masterpieces and more of history, while having a great time doing it.

Have a family game night. Who doesn’t love some mildly intense family competition? Find your favorite board games and plan a night in with the family. Great snacks are a definite must for this kind of fun, so make sure you have plenty of finger foods and yummy treats to munch on while you play. If you’re inviting friends or family members over to your home, it’s always a good idea to ask if there are any special dietary needs or food allergies you should know when planning the evening’s menu.

At home science experiments are a fun way to keep kids engaged even while they’re on summer break. It’s been shown that being away from school, kids lose a third of what they learned the previous year. Help them retain their knowledge and go back to school smarter than ever before by doing fun at home experiments and projects.

Horseback riding and/or fishing have also proven to be very therapeutic for folks with disabilities. Both items provide a great opportunity to be outside in a healthy environment.

Volunteering is definitely the least costly and most rewarding way to spend your time this summer. There are tons of different organizations and causes that you can dive into as a family. Pick a cause, assemble your team and give back to your community this summer.

Putting Amputees Back in the Driver’s Seat

For some people, an automobile is a necessity not a luxury.

To have a full life in America requires mobility -not just the ability to walk or run, but the ability to travel greater distances with more convenience and flexibility than public transportation provides.

For many lower-limb amputees, however, the lack of feet makes driving impossible in a conventionally equipped vehicle. Hand controls along with left foot gas pedals provide the solution. They make it possible for lower-limb amputees and people with other disabilities to enjoy the prosperity and independence that comes with vehicle ownership and use.

Different types of hand controls
Basic hand controls usually consist of a lever attached to a bracket and mounted under the steering column on cars equipped with automatic transmissions. The lever is moved to operate throttle and brakes. Usually the left hand operates the control, allowing the right hand to steer and operate the vehicle’s accessories. The three most common types of hand controls are push/rock, push/twist, right angle pull, and push/pull.

The push rock and push twist hand control works by twisting the handle to apply the gas and pushing it to apply the brakes. The right angle pull hand control works by moving the lever down towards the driver’s lap for acceleration. To apply the brakes, the driver pushes the handle forward towards the front of the car. The push/pull hand control works by pulling on the handle to apply the gas, and pushing for the brakes. Most hand controls, except for a very few, apply the brakes by pushing.

Most hand controls are hand-powered, using linkages or cables to operate the gas and brakes. Some models are power-assisted to make it easier on the hand and arm. Cars are designed for the driver’s foot to operate the gas and brake, so the force required to operate the hand control can be tiring to the hand during long drives. Power-assist options for hand controls range from very complex devices such as an electric joystick, to relatively simple ones that use vacuum power like power brakes. Most hand controls are dual-action devices that permit the simultaneous application of throttle and brake. Dual-action controls are helpful when the car is stopped on a steep hill or when making tight maneuvers on steep grades. The throttle can be applied a little before releasing the brake to prevent the car from coasting backward before moving forward. While most users prefer dual-action, some prefer single-action units because they eliminate the chance of accidentally applying the throttle during braking.

Which is best for you?
The best choice of hand controls for a person depends on a number of factors, such as the car’s layout, expected driving conditions, and the driver’s size, disability, and preference.

Push/twist
Push/twist hand controls are a good choice if either a large driver, a small car, or both, limit space. Economical use of space is achieved because the lever only needs to be moved to apply the brake. Throttle control is achieved by twisting the grip in the same manner as operating a motorcycle.

Push/twist controls provide a precise, sporty feel. By necessity, push/twist hand controls are often power-assisted. Without power-assistance, the twisting motion tends to feel stiff, and the hand tires. With a good quality power-assisted twist control, very little effort is required to maintain a throttle setting; simply resting the hand on the handle should provide enough force. This results in less fatigue on long drives.

Push/twist controls are good in tight turns and on rough roads. Throttle surges, which can be experienced with a push/pull or right angle pull device, as the driver and his or her arm bumps, sways, leans, or lurches going through curves and over bumps tend not to occur with a push/twist. Most push/twist controls are dual-action units.

These controls are not recommended for people with grip problems or those with amputated fingers or hands. Good left-hand dexterity is required for safe driving with push/ twist controls.

Right angle pull
Right angle pull controls are the most widely used form of hand control. They are relatively inexpensive and, usually, easy to install and adjust. Operation is simple and intuitive for these strictly mechanical units.

Space, however, can be a problem. Throttle application requires that the lever be moved down toward the driver’s lap. If the driver is large or the car is small, a push/twist or even a push/pull control may be more suitable. Because the lever is connected to the gas pedal with mechanical linkages, the underside of the dashboard will often require trimming.

For those missing fingers, hands, or with reduced grip strength, various handles, wrist straps, grips, etc., can be adapted for the right angle pull control. Specialized handles can be configured for use with a prosthesis. Right angle pull controls are usually dual-action, but also can be single-action.

Push/pull
Push/pull hand controls are by definition single-action. Since the lever is pulled for gas and pushed for brakes, the gas and brakes can never be operated at the same time.

This is the easiest hand control to learn to use. Senior citizens like the push/pull because there is no confusion when learning, after using the foot pedals all their lives. Power-assisted and non-power-assisted models are available. The driver’s hand can rest directly on the lever without causing the throttle to surge.

As with the right angle pull control, different handles can be adapted to the driver to permit safe and easy operation. Power-assisted push/pull hand controls equipped with handle adaptations are recommended for people with limited arm strength and poor manual dexterity.

Some other factors to consider
When shopping for hand controls, aesthetics is also a factor to consider. Car owners can be surprised to find that a section of the dashboard was cut away during the installation process. Most hand controls are mounted under the dash with a support extending into the driver space under the steering column where the lever is connected. A panel under the dashboard is removed during installation. If the hand control’s design and the dashboard layout permit, the panel can be returned allowing the mounting bracket to be hidden. Sometimes, however, the hand control’s hardware protrudes into the passenger space, and the panel cannot be reinstalled without cutting a window in it. Each installation varies with the model of automobile and the particular hand-control unit. Check with your dealer about what you can expect to see when you get your car back.

Many of us share cars with other family members. It is important that the pedals can still be used with the hand control installed and that there are as few impediments to using them as possible. Most good controls provide room for a pedal-pushing driver. Ask the installer what to expect.

Driving should be fun. Poorly designed hand controls, or a badly performed installation, can cause the driver to be distracted or preoccupied with the control, lead to frustration, and reduce safety. Good hand controls, professionally installed, will allow enjoyable, safe driving.

Installation
No matter what type of hand controls you use, you are making a significant modification to your vehicle. It is, therefore, important to have a trained and qualified person perform the installation.

The installer should cut a minimum amount of the dashboard. The handle should be located in a comfortable position so that the driver can hold on to the hand control and hook a thumb over the steering wheel. This position helps to stabilize the steering wheel and the throttle. The whole assembly should feel solid and sturdy. If the installation is done properly using a high-quality control, driving will be easy and fun.

Everyone is different, and each person is a special case. If you are uncertain about your condition and your abilities, consult a Certified Driving Rehabilitation Specialist (CDRS). A CDRS knows about different disabilities and can advise you about the best solution to your driving needs. Contact a CDRS through your rehabilitation facility or through your local amputee support group.

Whether you are a first-time buyer or already drive with hand controls, it is good to know what is out there and what to look for. High-quality hand controls are available, as are skilled mobility technicians who understand the quality and safety issues involved with their installation.

Spend a few extra dollars to purchase a high-quality product and have it professionally installed. You already have made a significant investment in your vehicle. A quality set of hand controls will surely enhance your driving experience and, above all, your safety.

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 complications.

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

Experienced Mobility Equipment Dealers

When it comes to finding the right transportation solution for your needs the options are almost endless. There’s accessible minivans, trucks, wheelchair and scooter carriers, lifts, ramps, hand controls, transfer seats etc. To ensure you are getting the right mobility products for your specific needs it’s important to get the help of an experienced mobility equipment dealer. Most local mobility equipment dealers have been in business for years and over that time have gained the knowledge and expertise to fit you with the very best product for your situation.

Quality mobility equipment dealers will meet with you in person to help determine your individual needs and what adaptive vehicle or equipment is best for you. They’ll ask you questions about you, your disability, your wheelchair or scooter, how you’ll be using the vehicle, will there be additional drivers, your budget etc.

It’s important that you ask the mobility equipment dealer some specific questions, as well. You’ll need to find out if they offer 24-hour emergency assistance, are their technicians trained and certified, and are they a full service automotive shop. You then have to ask yourself if you feel like they’re easy to work with and ultimately if you want to do business with this dealership.

Whether you buy new or used will depend on your finances but the most important thing is that the vehicle is designed to fit your requirements. Your local mobility dealer is the key to getting you into the right vehicle. Based on your disability, together, you can easily determine what’s the best transportation solution for you.