SMA Awareness Blog

The Importance of SMA Carrier Testing

Mon, 06 Sep 2010 06:00:00 -0400

I am Dr. Christine Stanley, Laboratory Director and American Board of Medical Genetics board certified clinical molecular geneticist. I would like to take this opportunity to discuss the importance of carrier testing for one of the most under-recognized but most common genetic causes of infant death, Spinal Muscular Atrophy (SMA).

1 in 6,000-10,000 babies in the US are born with SMA. Since SMA is an autosomal recessive genetic disorder, a child with the disease has likely inherited it from his/her parents. Therefore, the parents are carriers for SMA but are unaffected themselves.

If you are pregnant or considering becoming pregnant, ask your primary care physician or OB how you can be tested to see if you are one of the almost 8 million Americans who are carriers for this devastating disease. The best time to find out if you are a carrier is before you become pregnant! Your physician can order the test for you or refer you to a genetic counselor. There are many reproductive options available to individuals who are carriers for SMA.

The most sensitive carrier testing available today is at Athena Diagnostics, the leader in genetic testing for neurological, endocrine, nephrotic and neuromuscular disease. In addition, Athena Diagnostics supports organizations that fund research for a cure for SMA. Please browse this website and join us on Twitter and Facebook so that together we can help spread awareness for this deadly disease.

Athena Introduces New SMA Carrier Plus Test

Fri, 05 Mar 2010 15:45:00 -0500

Thank you to everyone who became a Facebook fan or Twitter follower. Because of you, we surpassed our goal of 2010 fans by February 14 and will be donating $5000 to the Claire Altman Heine Foundation to support research on SMA Carrier testing as a population screening, which we know will be helpful to many families.

In addition to this accomplishment, we are also very pleased and excited to announce the availability of our SMA Carrier Plus test. As you may already know, there is an incidence of 1 in 40, or 7.5 million individuals in the U.S. who are SMA carriers. While the majority of individuals who are SMA carriers have 1 copy of the SMN1 gene, the remaining carriers possess a change within the SMN1 gene that can only be detected by DNA sequencing. Until recently, the standard for SMA carrier testing was determining the number of SMN1 genes an individual possesses. While this was an effective method of detecting most carriers, those individuals with a sequence mutation would be missed by this standard of testing, and the individual would receive a result of "reduced risk" or possibly a false negative.

For this reason, Athena recently made available a new SMA Carrier Plus test that combines our SMN1 and SMN2 copy number technology with complete gene sequencing to increase clinical sensitivity and provide the most comprehensive SMA testing available. With the addition of SMN gene sequencing, our carrier testing is now able to accurately detect up to 96% of carriers, depending upon the individual's ethnic background.

If you are a healthcare professional, and would like more information about the SMA Carrier Plus test, please contact one of our genetic counselors or lab directors at Athena Diagnostics, or visit www.athenadiagnostics.com for test specifications. If you are planning a pregnancy or have a family member planning a pregnancy, we urge you to speak to your doctor or genetic counselor to see if SMA Carrier testing is right for you.

As always, please revisit our website regularly for new content and features. Or, we welcome any comments and suggestions to this website at sma@athenadiagnostics.com.

One person cannot help everyone, but everyone can help one person

Wed, 13 Jan 2010 12:30:00 -0500

Happy new year to you!

The New Year is traditionally a time for reflection and resolution. Here at Athena, we are resolving to do even more in 2010 to help raise SMA awareness and we need your help.

Raising a child with SMA requires medical, financial and emotional support and resources. Years ago, because very little was known about SMA, many families felt isolated in their experience. Today, however, there are numerous patient organizations that families can turn to for education, support and assistance.

Organizations such as the Claire Altman Heine Foundation (www.clairealtmanheinefoundation.org) and others are dedicated to goals such as educating the public and medical communities about SMA prevention, raising funds for SMA research, aiding families in obtaining the services their children need, and providing networking opportunities for families to share their experiences.

Athena recognizes the important role these organizations play in the lives of individuals with SMA and their families. That is why, this year we have decided to provide support to the Claire Altman Heine Foundation to aid in their mission.

Here's how you can help us reach our goal. We'd like to invite you to join www.athenaSMAawareness.com and help spread the word, 2010 style: From now through January 31, if we can get 2010 fans between Facebook and Twitter, we'll donate $5000 in their honor to the Claire Altman Heine Foundation, an organization making significant contributions to SMA carrier testing while leading the effort to support screening and educate the public and medical communities about SMA.

Support the cause now

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What do genetic counselors do?

Fri, 11 Dec 2009 10:19:00 -0500

I hope you had a happy Thanksgiving holiday. By now, you have hopefully had the opportunity to view our website and have found it helpful and informative when learning about SMA carrier screening.

Planning a pregnancy and having a baby can be a very exciting time whether it's your first child or the last in a long line of children. In addition to the excitement, parents have many important decisions to consider, from dietary concerns to delivery methods, which will help ensure the health of their baby. Some of these decisions may be unanticipated, such as genetic testing options.

Most individuals aren't aware of common genetic conditions such as SMA, or the fact that they may be at risk for having a child with these conditions. Learning these risks and deciding whether or not to pursue testing can be challenging. In deciding whether or not genetic testing is right for you, it's important to understand the benefits and limitations of testing. This will help you understand what the test can and cannot tell you. That's why it is important to consult with a knowledgeable professional, such as a genetic counselor, before making decisions regarding genetic testing.

Genetic counselors are medical professionals trained to help you understand your chances of having a child with a genetic condition and the testing options available to you and your family. They will provide you with all the facts you need in order to make informed medical decisions that are right for you and your family. These decisions can become overwhelming, that's why it's so helpful to consult with a counselor to guide you through the process.

Have a safe and happy holiday season. Remember, it you have any questions to use our "Ask the Experts" section.

Introduction and Purpose of the website

Mon, 09 Nov 2009 22:09:00 -0500

Hi, I'm Libby Couchon, Senior Genetic Counselor at Athena Diagnostics. I want to be the first to welcome you to this website designed to increase awareness of Spinal Muscular Atrophy (SMA), a disorder that affects 1 in 6000 to 10,000 individuals and is the second most common inherited recessive disorder after cystic fibrosis. SMA is a progressive neuromuscular disorder, which ranges in severity and age of onset from before birth to young adulthood. The most common and severe form of SMA is Type I which affects 60% of individuals with SMA.

Why SMA Awareness?

We want to build SMA awareness because over the last year we have received numerous questions about our SMA genetic testing service at Athena. The need for more SMA educational materials has become apparent through recent statements from leading professional organizations such as American College of Obstetrics and Gynecology (ACOG) and American College of Medical Genetics (ACMG) that have both recognize SMA as a common and severe, genetic disorder.

ACOG has implied the need for SMA educational awareness in its Committee Opinion statement (May, 2009). And, the (ACMG) has recently recommended that all couples be offered SMA carrier testing as part of their family planning process (October 2008).

Impact on Family

Every day two children are born with SMA, and many families whose children are affected suffer untold levels of devastating loss and grief as a result of losing a child. Because signs and symptoms of SMA usually do not begin until about six months after a normal pregnancy and delivery of a healthy newborn, parents are often unprepared both emotionally and financially to handle the circumstances --and during a time when critical decisions need to be made quickly about the care of their child.

Approximately 1 in 40 individuals in the U.S. carries a mutation in the gene responsible for SMA and is therefore at risk for having a child with this disease. Because SMA carrier testing is available, couples can learn their risk of having a child with SMA and make decisions based on this information. We hope that this website will help you understand this common genetic condition, your testing options, and the important information these tests can provide as you begin to plan your family.

Last, another purpose of this website is to support two important SMA communities: those working toward finding a cure, and those communities working toward advocating SMA Carrier testing. Athena is committed to giving a stronger voice to both communities. We welcome your comments and submissions, and ask for your support in building SMA awareness.

Next: Why genetic counseling services are important