Keep Calm It's Only An Extra Chromosome

 

Despite the incredible number of medical advances which have enriched and extended the lives of people with Down syndrome, Trisomy 21 continues to be extremely misunderstood. Many people look at Down syndrome through the lens of outdated stereotypes and misconceptions.

Down Syndrome Awareness Month, celebrated each October, is one way to change that. The goal of Down Syndrome Awareness Month is, of course, to spread awareness, to educate about Down syndrome, and to celebrate people who have Down syndrome, and their abilities and accomplishments.

Facts about Down syndrome:

• What is Down syndrome? Trisomy 21, or Down syndrome, is a genetic disorder which is caused by a full or partial third copy of the 21^st chromosome. There are three types of Down syndrome. Trisomy 21, or nondisjunction, is the most common kind, seen in 95% of Down syndrome cases. The extra chromosome is present in every cell in the body. Translocation Down syndrome occurs in about 4% of Down syndrome cases and is caused by a partial copy of the 21^st chromosome breaking off and attaching to another chromosome (usually the 14^th chromosome). Finally, Mosaic Down syndrome is the rarest case, seen in about 1% of Down syndrome cases. Mosaic Down syndrome happens when the nondisjunction of an extra chromosome is present in some, but not all, of the body’s cells. Some cells will have 47 chromosomes, while the rest will have the typical 46 chromosomes.

 

• Is Down syndrome rare? No, Down syndrome is not rare. It is the most commonly occurring genetic disorder or birth defect. One out of every 691 babies born in the United States will have Down syndrome, and there are over 400,000 people who have Down syndrome living in the United States. Down syndrome occurs in all races, and while women are at a greater risk of conceiving a child with Down syndrome as they get older, the majority of babies with Down syndrome are born to younger mothers.

 

• What are the effects of having Down syndrome? People with Down syndrome usually have hypotonia, or low muscle tone, and developmental delays. Early intervention programs and therapies are able to help children with Down syndrome reach the same milestones as typical children, albeit at a slightly longer pace. The rate at which the person with Down syndrome reaches these milestones, as well as the developmental delays he or she has, will be highly individual. There usually are cognitive delays as well, ranging from mild to moderate. It is important to remember, though, that each person with Down syndrome is different, just like typical people. People with Down syndrome are also at increased risk for various medical conditions, such as heart defects, hearing problems, thyroid conditions, childhood leukemia, and Alzheimer’s. However, medical advances have made most of these issues highly treatable, to the point where people with Down syndrome have life expectancies similar to those of people with typical chromosomes.

 

• What are the physical characteristics of Down syndrome? There are common markers for Down syndrome, which include almond-shaped eyes, a single crease in the palm, flat facial features, small ears, and extra space between the big toe and second toe. However, each person with Down syndrome is an individual, so some people may exhibit many of these characteristics, while others will not have any.

 

• Can people with Down syndrome lead normal, fulfilling lives? People with Down syndrome often do work and make contributions to society. They also get married, as well as have friendships and other meaningful relationships. Unfortunately, most men with Down syndrome cannot have children, or have a lower fertility rate than typical men. About 50% of women with Down syndrome are able to have children. Thirty-five to fifty percent of children born to a mother with Down syndrome will also have Down syndrome, or other developmental delays. Most importantly, people with Down syndrome do lead happy, fulfilling lives. Studies have consistently shown that people with Down syndrome overwhelmingly report being happy with themselves, their lives, and how they look.

 

• Are people with Down syndrome always happy? No. People often refer to people with Down syndrome as always happy, or as constantly full of love and joy, but this does a disservice to people with Down syndrome. They experience the full range of emotions, just like everyone else. Reducing them to one emotion or one feeling reduces them to less of a person. They feel happiness, along with sadness, anger, frustration, and countless other feelings, and they deserve to have those feelings acknowledged.

National Disability Employment Awareness Month Facts & Figures

Held each October, Disability Employment Awareness Month is a national campaign that raises awareness about disability employment issues. The opportunity to earn a living and be self-supporting is a broadly held goal by Americans. Work is a foundation of stability for individuals and can give one’s life meaning and purpose. Unfortunately, the rate and level of employment for people with disabilities is staggeringly low. Labor force participation is 22% for people with disabilities as compared to 69% for people without disabilities.

VETERANS FIELD GUIDE TO GOVERNMENT SHUTDOWN – Field guide 20130927

Oh No! Our Government has shut down!!

What now? 

Here is the response given by the VA for all Veterans who are in the process of getting a wheelchair van: "It’s simple; business as usual."

For a complete guide to ‘what now’ during this Government shutdown:

VETERANS FIELD GUIDE TO GOVERNMENT SHUTDOWN

All VA medical facilities and clinics will remain  fully operational,  including:

1. In patient Care
2. Out patient Care
3. Prescriptions
4. Surgeries
5. DentalTreatment
6. ExtendedCare
7. MentalHealthCare
8. NursingHomeCare
9. SpecialHealthCare Services
forWomenVeterans
10. VetCenters

• Military Sexual TraumaCounseling
• Readjustment Counseling Services(VetCenters)
• Interments in National Cemeteries will continue,but may be on a reduced schedule.
Contact NCA’s Scheduling Office at 1-800-535-1117
• MyHealtheVet–All Services

IMPORTANT

Claims processing and payments in the compensation,pension, education, and vocational rehabilitation programs are anticipated to continue through late October.

However, in the event of a prolonged shutdown, claims processing and payments in these programs would be suspended when available funding is exhausted. NCA will process applications for headstones, markers, medallions.

• Insurance Processing
• Home Loan Processing
• NCA will notify VBAof death for benefit actions
• VBA Call Centers will be operational except for education
• Acquisitions Logistics Center will accept and fill prosthetics supply orders
• Office of Small and Disadvantaged Small Businesses
• VeteransCrisis Line

Operational National Phone Numbers for Veterans
• VA National Call Center: 1-800-827-1000
• All VA Medical Facilities & Services: (411 or http://www2.va.gov/directory/guide/division_flsh.asp?dnum=1 )
• Coaching into Care Call Center for Family Members of Veterans: 1-888-823-7458
• Debt Management Center: (Collection of NonMedical Debts): 1-800-827-0648
• Homeless Prevention Line:
1-877-4AID VET (877-424-3838)
• Home Loans: 1-888-244-6711
• Insurance: 1-800-669-8477
• Mammography Helpline: 1-888-492-7844
• Meds by Mail: 1-888-385-0235 (or) 1-866-229-7389
• National Caregiver Support Line:1-855-260-3274
• NCA’s Scheduling Office: 1-800-535-1117
• Veterans Crisis Line: 1-800-273-TALK (8255)
• Women Veterans Call Center: 1-855-VA-WOMEN (1-855-829-6636)
• Federal Service for the Deaf: 711
• Vet Center Combat Call Center: 1-877-WAR-VETS
• Discrimination: 1-888-737-3361
• Denver Acquisition and Logistics Center: 1-303-273-6200
• Health Benefits Customer Service: 1-877-222-VETS (8387).
• CHAMPVA: 1-800-733-8387
• Children of Women Vietnam Veterans; Foreign Medical Program; Spina Bifida Health Care Program: 1-877-345-8179 (or) 1-888-820-1756

So there you have it folks, for now it is business as usual! Please share this with your friends.

October is Rett Syndrome Awareness Month

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.

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.
- See more at: http://www.rettsyndrome.org/understanding-rett-syndrome/about-rett-syndrome/testing-diagnosis#sthash.CABcoha0.dpuf

October is Down Syndrome Awareness Month

October is Down Syndrome Awareness Month, a chance to spread awareness.  During the month of October, we celebrate people with Down syndrome and make people aware of our abilities and accomplishments.  It’s not about celebrating disabilities, it’s about celebrating abilities. 
We can learn all about our history. We have a right to speak out about what it’s like to have Down syndrome and to learn the real story of people like us.  People with Down syndrome and their loved ones can spread awareness about Down syndrome by going to their local Buddy Walk® and we can speak out about our needs.  This is how we advocate. Our parents can teach us about education and how to advocate for ourselves – and give us love, support and encouragement.
Remember that this is a very important month – we have to spread awareness about Down syndrome and learn more about ourselves.   
- See more at: http://www.ndss.org/About-NDSS/Our-Team/Ambassadors/Goodwill-Ambassador/Straight-Talk-with-Chris-Burke/Down-Syndrome-Awareness-Month/#sthash.FFMCmj5E.dpuf

Down Syndrome Awareness Month is chance to spread awareness, advocacy and inclusion throughout the community.  During the month of October, we celebrate individuals with Down syndrome and make people aware of their abilities and accomplishments.

It’s not about celebrating disabilities; it’s about celebrating abilities. 

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What Is Down Syndrome?

 

Down syndrome (or Down's syndrome) is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome. The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities. Through a series of screenings and tests, Down syndrome can be detected before and after a baby is born.

The only factor known to affect the probability of having a baby with Down syndrome is maternal age. That is, less than one in 1,000 pregnancies for mothers less than 30 years of age results in a baby with Down syndrome. For mothers who are 44 years of age, about 1 in 35 pregnancies results in a baby with Down syndrome. Because younger women generally have more children, about 75 - 80% of children with Down syndrome are born to younger women. 

What causes Down syndrome?

Down syndrome occurs because of an abnormality characterized by an extra copy of genetic material on all or part of the 21st chromosome. Every cell in the body contains genes that are grouped along chromosomes in the cell's nucleus or center. There are normally 46 chromosomes in each cell, 23 inherited from your mother and 23 from your father. When some or all of a person's cells have an extra full or partial copy of chromosome 21, the result is Down syndrome.

The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. Trisomy 21 accounts for 95% of Down syndrome cases, with 88% originating from nondisjunction of the mother's egg cell.

The remaining 5% of Down syndrome cases are due to conditions called mosaicism and translocation. Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21. Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome (usually chromosome 14). The presence of this extra part of chromosome 21 causes Down some syndrome characteristics. Although a person with a translocation may appear physically normal, he or she has a greater risk of producing a child with an extra 21st chromosome.

2013 Boston Abilities Expo

Come See VMi New England at the Boston Abilities Expo this Weekend!

The Boston Convention & Exhibition Center, Hall C - Booth 237 

 

 

Are you in the greater Boston area and want to know more about Wheelchair Vans and Mobility equipment? If yes, come to the Boston Abilities Expo this Weekend (September 20-22 2013) to see us, alongside VMI, to help spread awareness!!

We, along side VMI, are leaders in the manufacturing and distribution of wheelchair accessible vans worldwide. From minivans to full-size conversions, VMI continues to lead through innovation, stability, superior customer service and dedication to quality - much like us. Together we provide a service that is not found with any other conversion manufacturer. 

For more information come and see us this weekend where we will have all leading wheelchair vans on display! We hope to see you there!

Facts You Might Not Know About Spinal Cord Injuries

People with SCI can’t sweat

The spinal cord may be the organ that helps the body feel and move, but it also operates your sweat. Becoming hotter and hotter is what some people with higher spinal cord injuries have to go through until they finally cool off their body from the outside, either by dumping cold water on their skin or basking in the AC. Paraplegics however can usually sweat. Not being able to sweat applies generally to quads.

82% are men

Out of everyone on the planet with a spinal cord injury, 82% are male. That’s quite the disparity between men vs. women and most think feel it’s because men are bigger risk-takers than women. It’s hard to argue with that. Motor vehicle crashes, sports injuries, falls, men find themselves in these situations a lot more often.

Before the 1940s, the life expectancy was two years

There may not be a cure for spinal injuries yet, but scientists have come a long way in improving long-term prospects for people with spinal cord injuries. Prospects before the 1940s were not good. It was before antibiotic use began to be widespread, which mean most died before the two year mark from slow deaths related to untreatable infections; bladder, blood and skin. Paralyzed WWII veterans are some of the first people in human history to move onto full lives post-injury.

Less sensation, less body hair

One of the few bonuses of having a spinal cord injury (if you could call it that) is less body hair. Researchers have recently discovered that body hair grows better when it’s getting feedback from the brain. They’re not sure why, but it’s a phenomenon that’s been observed in most people with a spinal cord injury.

Some people can’t cough

Some people who are quadriplegic may be able to emit a tiny cough, but that’s about as fierce of a cough most of us can do. Reason why – spinal cord injuries don’t just effect the legs and arms, they can affect the chest wall muscles; everything becomes paralyzed below the level of injury. This is why respiratory failure remains the number one cause of death among people with higher spinal cord injuries. Coughing up phlegm is critical when fighting off colds, but the good news – cough-assist devices and techniques like these.

They pee through their belly buttons

Everyone thinks they know the going-to-the-bathroom secret (catheters). But there’s one big secret mainstream society has no idea is possible—a surgery that allows you to pee through the belly button. That’s right, a hole is put in the belly button, with a new urinary conduit to boot. All you need to do is insert in a catheter, put a drainage cup between your legs, and you’re good to go. Doctor Mitrofanoff invented this fascinating surgery.

Their legs can still move

Mainstream society thinks paralysis equates to the legs being absolutely frozen in time—but this is not the case. Some people’s paralyzed legs can move and shake a lot on their own; anything causing pain below the level of injury can cause it. Lower level paraplegics however rarely get spasms.