Thoughts on early genetic prenatal testing...

Every once in a while, I get the urge to share my thoughts. I am by no means a dedicated blogger (As you may have realized) but I do have a few thoughts that I wouldn't mind sharing today.

So this whole 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 field approaches individuals who receive 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 possible and with your stories being shared it is even more possible. I am always excited to read the new posts every morning, so keep them coming! They ARE making a difference! ;)

Rambling Away...

Well, I am not a blogger. In fact this is my first time actually blogging, so bear with me.  I don’t even really know how to blog so I am just going to write what comes to my mind. So here we go:

I wanted to share my thoughts about the Genetically Enhanced T shirts. A new venture for me, but here is the reason behind it:

 A few weeks ago, while I was surfing the web, I wanted to see what was out there for apparel or quotes or what have you regarding Down syndrome, and really there was nothing. Well, actually, before I get into that, let me just express my frustration with the name of the diagnosis “Down syndrome”? Really? Oh, Dr. John Langdon Down, did you really have to have the last name of “Down”. First of all there is nothing DOWN about any individual that has Down syndrome, I sure wish there was a more “Appropriate” name. I noticed while reading various other blogs and books, that I am not really the only person out there that seems to think that, which is why so many refer to it as something else “Up syndrome” for example. (Now that is more like it). So that is how I came up with Genetically Enhanced. But enough rambling about that. Back to the topic.

So, as I was saying….While surfing the web…..all I could find were T shirts that had the blue/yellow ribbon or butterfly (Which I like, don’t get me wrong) but I wanted something else.  I then came across a wordle and thought “Oh yea! This is neat” It was full of vibrant colors and attractive to look at…Until I started reading the words on the wordle. It looked something like this: The word “Down syndrome” in large bold letters and then the descriptive words that followed included (but not limited to) words like: Cognitive delays, mental, protruding tongue, Leukemia, disability…..Really??? No wonder the majority of people who have no clue about Down syndrome have a fear for it. 

Ask, any person, who has never met anyone with Down syndrome if they know what Down syndrome is and the first thing that would come to their mind is exactly what that wordle was displaying. 

The fact is that Down Syndrome is just a diagnosis and does not describe the individual ( I am guilty of that too though) The difference between me and my son Colton  is one chromosome…ONE. Everything else is the same.

Yes, he does have different features….but so do different people from different ethnicities and cultures. The Greeks, the Polish, the Chinese, the Japanese, the Arabs. Individuals with Down syndrome have amazing attributes and qualities, which is why I would like to refer to the 21^st chromosome as the L&L Chromosome (Love & Laughter). To be honest, I have to credit my sister in law for that one. However, I agree. So, in a nutshell a person with Down syndrome has extra to offer in terms of love & laughter. (We all agree I am sure).

I am by no means an expert on Down syndrome, but my son has opened up my eyes. I also see through everyone on my face book page and yes…I do read the comments. I am only 6 months into my venture, well, let’s say 5 because the first month was actually a hard one, I was in denial for the first two weeks and then after so much crying and too many migraines I decided enough was enough. Actually, it was not as easy as it sounds, but thankfully my personal grieving period was short lived.

I fell off the topic again, sorry. Back to the t shirts.

I would like to change things, let’s rewind…I would LOVE to change things a little. Creating t-shirts that display the positives attributes of individuals with Down syndrome is a great start to promote more awareness. It has become my passion really. I am passionate about advocating for those who are not able to advocate for themselves, and those who are prenatally diagnosed.

          

  Yes there are/will be/might be challenges and hardships along the way, but in reality what parent DOESN’T face challenges with their children. The difference between say myself and someone who gives birth to a child without Down syndrome, is that it is all thrown at you from day 1. You almost don’t have much of a chance to enjoy the baby stage because you get caught up worrying about what it will be like for your child 5,10,20 years from now. I did that, I asked all the questions in my head : Will he be accepted, will he be bullied, will I be capable of raising a child with a disability, will he ever get a job, will he ever do this, will he ever do that…It was mentally exhausting.

  

Oh, and then came the list of medical conditions that individuals with Down syndrome are “very” susceptible to. Well I got that list from our geneticist and I think I had to put it away after reading the first page. Now not only did I have to worry about my son and his personal escapades but I had to also prepare for the possibilities of all sorts of other issues, medical issues. (Which I know could happen) But, again…it was mentally exhausting.

We cannot always worry and focus on what ifs. Life for any one person is unpredictable. I for one am an optimist (usually) and I never would have guessed 6 months ago that my life was going to change so much (For the better). I worry when I need to, in the mean time I am enjoying every second with my boy. He is truly a miracle and one of the best things that has ever happened to me. Both my sons are.

By the way, feel free to spread the word about the T shirts; I will be donating a portion of the sales to the NDSS in honor of my son, so your generosity is greatly appreciated.

In the mean time, keep sharing those pictures! I love seeing and learning about all the wonderful Genetically Enhanced individuals out there who are bursting at the seams with the L&L chromosome ;)

DISCLAIMER: English is not my first language, and I am not really going to proof read my blog entry, because if I do it might take forever to actually post it.  Hope you understand.

Proud mom of two amazing boys, one of which is waking up from his nap right this second (Great timing if you ask me!)

Facts and FAQ About Down Syndrome

Facts and FAQ About Down Syndrome

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Misconceptions vs. Reality