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    Posted April 6, 2013 by
    Smoyer
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    Prenatal Genetic Testing and Down syndrome

     
    In early January, I decided to launch a face book page dedicated to my son Colton Ryder, who had been diagnosed with Down syndrome soon after his birth in September. The goal was to update family and friends about his growth and development. However, what started out as a personal website quickly turned into a vibrant journey of advocacy attracting thousands of fans nationwide. Hence the birth of Special Miracles – individuals genetically enhanced with the 21st chromosome.

    Down syndrome is the most common chromosomal anomally occurring about once in about every 733 births. Individuals, who are born with Down syndrome, have an extra copy of the 21st chromosome (Trisomy 21), thus, they have 47 chromosomes rather than 46. All the other chromosomes are the same as any other typically developing person, which is why they are more alike than different. The one extra chromosome however, is what creates great diversity regarding intellect, personal ability, creativity, talent and learning styles.

    I soon came to the realization that Down syndrome was not a tragic event, it was a blessing and a life changing experience, but I was also very saddened to learn that the termination rates of a pregnancy due to a prenatal diagnosis of Down syndrome were way over 80%, mainly due to the overwhelming fear and misconceptions surrounding Down syndrome

    In the recent weeks, there has been more talk in the news about the new non invasive early genetic prenatal testing. (Often used to check for Down syndrome among other syndromes) “as early as 9-10 weeks” is what the companies that launch the test claim. However, it is also noted that these tests are not always accurate and so further testing is almost always required to confirm any condition. So, we are then back to square one which is the Amnio (the more complicated procedure which many of us are not too eager about).

    I really do not have much of an issue with the fact that these tests are available, because to many individuals they are indeed helpful in order to prepare (mentally, emotionally, financially…what have you).

    Personally, I did choose to have the quad screen done during my second trimester, and the results were within normal range. HA! So, really….how accurate are any of these tests to begin with?

    I have to admit, that my biggest problem with having a genetic prenatal test done to check for Down syndrome whether at 9 weeks or at 20 weeks is the fact that termination is given as an option if the results come in positive. Why? How is it different from having an ultrasound at the 18th week of pregnancy to find out that you are having a boy…but in fact you really wanted a girl, so how about a termination?. Or you breeze through a pregnancy and all looks great only to find out soon after the birth of your child that he/she is in fact blind. Would you have terminated had you known? Or what if your child is to be born with 2 genders? (Rare but possible) Then what? The list can go on and on, but my focus is Down syndrome.

    I am the first to admit that I was as ignorant about Down syndrome as one could be. When my son’s diagnosis was confirmed, I was devastated. I had no knowledge about Down syndrome. What came to my mind was the stereotypical image: Thick neck, protruding tongue, large staring eyes, mental delays, and a multitude of health problems. Fear took over and my heart ached. But I decided to read and learn as much as I could about it and found out was that it was the total opposite of what I had envisioned. But surely, I am not the only one who has gone through this scenario.

    In all honesty, I am pro choice, don’t get me wrong. What you do and how you do it, is your decision and you have to live with it. But my goal is to speak on behalf of those who cannot (those who are prenatally diagnosed). I still cannot believe that in 3 months Special Miracles has reached 15K+ members and in the recent weeks I have received numerous emails from newly prenatally diagnosed moms to be who have thanked me for the face book page and informed me how it has made them realize that expecting a child with Down syndrome is really not such a scary thing after all. I cannot begin to express how humble that makes me feel.

    I would like to see a change in the way the medical professionals approach individuals who receive a positive diagnoses for Down syndrome. I have to believe that somehow, knowledge and awareness is not being given otherwise the termination rates would not be so extremely high. I want parents to make an informed/educated decision should they decide to not go through with their pregnancy.

    So if you are a parent who is expecting a child with Down syndrome, first of all breath! You may or may not have many challenges ahead of you. Your hurdles may be small or they may be various sizes. Your child may or may not need heart surgery. Your child may walk at 13 months or at 24. Your child may or may not like sports….Here is the difference between a family expecting a child with Down syndrome and a family that is expecting a typical child. Everything is thrown at you from day one. You have to worry and think about all the things that may or may not happen from day one. I tried that, but it didn't work for me, so I decided to cross each bridge when or if I have to.

    Of course I do worry about my son’s future, but I worry about my other son’s future as well. However, look at how far everything has progressed in the last 50 years and the opportunities and possibilities people with Down syndrome have today. I cannot help but feel confident that if we fast forward 50 years from today, there is going to be even more possibilities and opportunities.

    Fifty years ago individuals with Down syndrome were not fitted with hearing aids; OT/PT/ST was not available, early intervention? Detecting heart conditions? Checking for Hypothyroidism?

    I am not a nonprofit, or a charity or an organization. I am a mother of two amazing boys, one of whom happens to have an extra copy of the 21st chromosome. My goal is to spread my story and other stories and generate a ripple effect to create awareness about Down syndrome and how different it is from the stigma that still surrounds it.

    My goal is not to tell anyone whether or not they should or should not terminate their pregnancy because of a Down syndrome diagnosis, but it is my goal to show them the possibilities, opportunities and accomplishments that individuals with Down syndrome are capable of achieving and joy that they add to a family.

    Thanks to social media, this is possibility!

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