NSGC recommends individuals ask the following questions before they consider undergoing
genetic testing:

1. What will the test tell me? Discuss with your genetic counselor what you would like to
learn from genetic testing. There are many different types of genetic tests. If the wrong
test is ordered, it may not give you information about your medical concerns.

2. What is the scientific basis for the testing? Some genetic tests provide more conclusive
results than others. Also, a genetic counselor can integrate the test results with your
medical and family history to provide more powerful and useful information.

3. What might you do with the information once you know the results? Consider the
implications of knowing the test results and the impact that could have on you and your
family, both medically, emotionally and in terms of life planning.

4. Will there be a knowledgeable health care professional involved with giving you the test
results? It is important that someone who has expertise in genetics helps you
understand and interpret your test results. For example, genetic counselors have
specialized training in medical genetics and counseling and have Master’s degrees
in their field.

Additional symptoms may include: fatigue, delayed growth and development, yellowing of the eyes and skin (jaundice), and high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension).

Sickle cell disease is the most common inherited blood disease in the United States, affecting approximately 75,000 Americans and 1 in 350 African-American newborns.  The disorder also occurs more frequently in people of Greek, Turkish, Italian, Middle Eastern, Indian, Caribbean and Hispanic descent.

According to a recent study from the Centers for Disease Control and Prevention published in the American Journal of Preventive Medicine, children with sickle cell disease had higher odds of frequent severe headaches or migraine, intellectual disabilities, regular use of prescription medication, hay fever, food allergies, frequent diarrhea and hearing problems when compared to similar children without the disease.  Children with sickle cell disease were also more likely to have recently visited a mental health professional and received special educational services.

The findings of this study have  expanded our view on sickle cell disease and have prompted efforts by the CDC to better address the health problems of affected children and adults.

Click here for more information on the genetics and inheritance is sickle cell anemia.

What is Down syndrome?

Down syndrome (also called Trisomy 21) is associated with mental retardation (mild to severe), a characteristic facial appearance, and low muscle tone (hypotonia) in infancy. People affected with this condition are at an increased risk for congenital heart defects, vision problems, digestive problems (such as gastroesophageal reflux or celiac disease), hearing loss, hypothyroidism, early-onset Alzheimer’s disease and cancer of blood-forming tissue (leukemia).

The  Truth

The truth is that although people with Down  syndrome share some key characteristics and risks, they are as different as you and me. For example -

• Most individuals have moderate mental retardation; however, some individuals do have severe mental retardation.

• Anyone can have a child with Down syndrome. The risk to have a child with Down syndrome increases with maternal age. During pregnancy, this risk may be modified by blood screening tests or ultrasound findings suggestive of Down syndrome.

• A blood screening test or ultrasound findings may increase the likelihood that the pregnancy is affected with Down syndrome, but these tests are not diagnostic. A fetal chromosome analysis obtained via CVS or amniocentesis is currently the only manner in which to diagnosis a pregnancy with Down syndrome.

• The degree of mental retardation (mild, moderate or severe) cannot be predicted from a Down syndrome chromosome analysis or by the severity of associated birth defects.

• Children with Down syndrome are capable of learning and benefit from early intervention, special schooling as well as being integrated into regular classrooms.

• Although individuals with Down syndrome are often stereotyped as always happy, they experience the same emotions (e.g. anger, sadness, etc.) as everyone else.

• Because of better treatment options, the average life span of a person with Down syndrome has increased to 50-60 years old; however, about 50% of people with Down syndrome have signs and symptoms of Alzheimer’s disease by this time. Long term planning can be helpful.

• The risk to have a child with Down syndrome is not reduced by a negative family history of Down syndrome, as the condition is only inherited in about 2% of cases.  Conversely, a positive family history of translocation Down syndrome may increase the risk.

Personally, I meet so many people who have strong opinions about Down syndrome, many of whom have never had to care for a person with special needs in their entire life. People need to have an open and honest discussion of both the struggles and joys of having a person with Down syndrome in the family. People need to be respectful of the difficult choices made by parents during pregnancy whether it be to terminate an affected pregnancy, make an adoption plan for a child with Down syndrome, or raise that individual. For more information visit; the  National Down Syndrome Society or Chromosome Disorder Outreach, Inc.

Stuart Schlossman is President and Founder of MS Views and News, Inc.

What is MS Views and News?

We are dedicated to the global collection and distribution of current information concerning Multiple Sclerosis (MS). In collaboration with other organizations, MS Views and News uses state-of-the-art communication  channels to provide information for those affected by, or interested in MS.

We are a place where information and knowledge is provided for anybody affected by Multiple Sclerosis (MS). This includes the patients, caregivers, medical providers and/or anybody just interested in having availability to MS information. We help bridge the gaps to all major MS organizations.

What types of information and resources can someone find there?

Between our website, blog and e-newsletter, we have links to MS resources, MS videos,  a vast library of articles and news about MS as well as MS Facts and information in more than 11 different languages.

What inspired you to start MS Views and News?

I was diagnosed with relapse-remitting MS in December 1998 after several years of symptoms including headaches, blurred vision, fatigue, vertigo, carpal tunnel syndrome, Bell’s Palsy and leg stiffness. After meeting other people with MS, I felt I had to help those whose symptoms were worse than my own. I don’t see MS as a disease – for me it is an illness, one that I had to do something about. I was once in denial and then realized that I was “chosen” to have this illness.  Chosen for the mouthpiece that I have and the desire to help others.

I have been involved in MS organizations such the National MS Society as the Committee Chair of the South Florida, Coral Gables MS Walk event and have helped design and organize The MS Health Expo for the National MS  Society’s chapter here in South Florida. However, some time ago, I started a support group and began writing a blog about my experiences.  I began collecting my blog posts in a weekly e-newsletter that I began sending to just those involved with the support group. Later in 2008,  my brother helped my launch the website.

For that which I have been doing, others are taking notice. Many large MS organizations, such as the National MS Society, The MS Foundation, The Heuga Ctr, (now known as Can Do MS) and others have asked and continue to ask me to post items to my blog with regards to their organizations or with regards to topic information that they want greater exposure. In return, they have helped expose people to my story and organization.

To date, what has been your biggest challenge with the organization?

Obtaining grants to fund the organization and to help re-develop the website. Money to hire. And getting volunteers.

Describe a moment when you knew all your efforts were paying off.

No one specific moment comes to mind, but when I hear or receive emails from Patients and Caregivers, who thank me for doing what I do, this makes me feel good. When the NMSS or the MSF write articles of me, this too, makes me feel good. When other large MS organizations or bloggers ask me for my thoughts, this is a good feeling. When people come up to me at events, to grasp my hand or put an arm around my shoulder, in appreciation for what I do, this too feels good.

For more information, visit MS Views and News and Stu’s Views & M.S. News.