Down Syndrome Awareness Month - Our Prenatal Diagnosis Story

I have wanted to write this down for a while.  At first, it was a little too raw.  Then, as a full-time working mother of 2, I just couldn’t find the time.  Or I didn’t make the time.  Now it is October 2010 and it is Down Syndrome Awareness month.   I have a beautiful 2-year-old son named Mason.   And he has Down syndrome.   I couldn’t think of a better way to celebrate awareness than to share our story.  This is the story about the struggles we encountered after a prenatal diagnosis of Down syndrome in December 2007 and the joy we experience every day with our son Mason. 

“I just want to make sure everything is okay.”  That is what I told my husband, Brian, when he asked, “Tell me again WHY we are getting this procedure done today?”  It was December 10, 2007 and the procedure he is talking about is the Nuchal Translucency or NT Scan.  We had recently found out that we were expecting our second child in June 2008 and we couldn’t be more pleased to have a brother or sister for our other son, Owen, who was then about 17 months old.  I remember it was a busy week.  We were in the midst of purchasing a new home and selling our “starter” home.  Christmas was just around the corner and the movers were coming the next week.    With everything going on, I just wanted a chance to make sure that this new baby was healthy so I could focus all of my energy on packing, moving and making Christmas in our new home extra special for Owen.  Ironic.   Because our world was just about to be turned completely upside down. 

An NT Scan is a sonographic prenatal screening scan (ultrasound) to help identify higher risks of Down syndrome in a fetus. The scan is carried out at 11–13.6 weeks pregnancy and assesses the amount of fluid behind the neck of the fetus - also known as the nuchal fold or 'the nuchal translucency'.  To be honest, this is more than I knew about the testing going into it.   Our first indication of a problem was when the doctor performing the exam kept measuring and re-measuring the area behind the neck.   Then, the bomb dropped.  You see, at 12 weeks of gestational age, an "average" nuchal thickness is 2.18mm.   Mason’s was 5.1mm.  We were told solely based upon these readings, we had about a 50% chance that there was some sort of chromosome defect in our child and that high nuchal fold thickness measurements were usually associated with congenital heart defects.   Great.   I’m generally a glass-half-full kind of girl so I heard this as a 50% chance that our child was just fine.  Or maybe I was in denial.  Brian, on the other hand, focused on the words “defect” and couldn’t shake it.  The doctor who performed the NT scan consulted with our OB and then sent us up to the lab to get the blood tests (the second party of the screening) done.   While we waited for the blood test, Brian was all over my iPhone, looking for something positive and reassuring but only finding words like “disability” and “abnormality.”  After the blood tests, we went straight to a meeting with our OB who was actually very comforting and supportive.  She hugged us both tight and we knew that it was not good.  She told us our options (1) we could do nothing and wait to see what happens (2) we could have a CVS (Chorionic villus sampling) which entails using a needle to get a sample of the placental tissue and testing it for chromosome abnormalities.   We didn’t hesitate for a second in stating that we wanted the CVS.   There was no way that either of us could make it through 7 more months of not knowing.   This was Monday.

We could schedule the CVS for Wednesday morning.  Those two days seemed like an eternity.  We shared the news with our families and they put on a brave face.  They said what we wanted to hear, “I’m sure everything will be okay, but if it’s not, you can handle it.”  We can handle it.  We can handle it.  You aren’t supposed to “handle” a child.   This is supposed to be a happy time.   Brian was reclusive, searching the Internet for best and worst case scenarios.   I did a little bit of research, but put most of my faith in the fact that everything will be okay.  God wouldn’t let this happen.  This isn’t supposed to happen to us.  I will pray.  It will be okay.   It will be okay.   The CVS was uneventful.  More measurements.  We had a meeting with a genetic counselor who told us the doom and gloom of the measurements.  More odds.  They hovered between 50% - 75% chance of something being “wrong.”  Let’s just get this over with.  It will be okay.  You will see.

Mason's ultrasound at 12 weeks (CVS)

  The test results came back the next morning.  It was Thursday, December 13th.  Brian’s birthday was the next day.  We were moving the next week.   Owen was having Christmas pictures taken that evening.  Life was moving.  We had things to do.  And then it stopped.  I was working at home when the genetic counselor called me.  She asked if we wanted to know the results over the phone or schedule a meeting to come in.   I told her to just give it to me.  We had waited long enough.   And everything was going to be okay.  Wait.  What?  Down syndrome?  Everything is not okay.  Miss Doom and Gloom Genetic Counselor is telling me that this child will probably have a heart defect.  He will have significant medical problems. I will probably miscarry.  She’s giving me information about abortion clinics.  Is there nothing encouraging to tell me? This is my child we are talking about.  Hello?  What just happened to my life?   In a daze, I call and give the news to Brian who tells me he is coming home right away.  I barely remember the telephone call I then placed to my mom.  I’m sure she was faithful and reassuring because that’s who she is.   I just cried.  I thought how difficult it is going to be.  Do we just sit around, waiting to miscarry?  What do we tell people?  Do we tell people?  

One step at a time.   I turned to the Internet.  I need to learn all I can about Down syndrome.  All I knew was Corky from Life Goes On.  I needed to know everything I could.  As we scoured the Internet we began to realize that everything still could be okay.   Down syndrome is not a death sentence.  You can live a long and productive life even with that extra chromosome.   And studies show that siblings of people with Down syndrome actually grow up to be more patient, empathetic, and understanding adults.  God has a plan for everybody.  And maybe our plan included this child.  Or maybe it didn’t.   But it wasn’t my place to decide.  I am a control-freak.  Self-admitted.   Yet, it was somehow reassuring to know that this was out of my hands.  If this child is meant to be in the world, let him be.   And somehow it lifted this weight off of my shoulders.  

Over the next few weeks, we treaded carefully.  We told our families right away and took it slow with friends.  Most people didn’t even know I was pregnant.  How do we tell people, “hey, I’m pregnant and by the way our child has Down syndrome?”  Here, I have the benefit of hindsight because I now know that Down syndrome isn’t that big of a deal. But back then … every time I said it, tears welled in my eyes and I felt daggers in my heart.   I mourned the son I will never have.  The son who would go to college, get married, and have children.  I mourned the brother than Owen would never have.   We told a few people in person, but it was uncomfortable.  They didn’t know what to say.  So, I stopped doing that and decided that email was the best way to communicate our news.   With email, I could carefully craft my message and they would have time to think about how to respond rather than being put on the spot.  I was going through some old emails and found an email I sent to some friends back then:

I have some news (some good, some not so good) to pass on and I thought this would be the best way to get it out there. The good news is that I am pregnant with our 2nd child, due in late June … the not so good news is that we found out the baby has Down syndrome.  We won't have any idea of the extent of any medical problems until early February when they will do a detailed ultrasound and fetal echo cardiogram.  We have had to adjust our expectations but have accepted that while this baby will be different, he (yes, it's another boy!) will be just as loved and as much a part of our family.   Best case is that they will not find any significant medical problems.   It is not easy to have a time that is usually so joyous be filled with so much unknown and trepidation but we have faith that we will be able to manage whatever the future holds.

Wow, I must have been channeling my future self when putting together that email!   I wasn’t nearly as brave as I pretended to be.   With each day of the pregnancy, it got easier and easier.   I don’t think it was until well into my 2nd trimester that I really let myself think that this baby would actually be born.   I kept a little wall up so I wouldn’t completely lose it if something went wrong.  But, with every test we got more good news.  No heart problems.  No medical issues.  This might just be okay after all.   Take that, Ms. Doom and Gloom Genetic Counselor.     We had some more roadblocks, including 2 months of bed rest due to early labor contractions (which may or may not have been related to the Down syndrome).   We connected with the local Down syndrome association and while on bed rest, I had to opportunity to meet with a local family who had a then 6 month old with Down syndrome.  This was the first time I had ever met anyone with Down syndrome.  And it was so reassuring to see that this little girl was just like any 6-month-old baby.  I was ready to meet my little boy. 

Owen giving his brother a kiss before leaving for the hospital

It was just about 6 months after receiving the diagnosis that Mason was born.  June 8, 2008.  It was a happy day.  We couldn’t wait to meet our new little boy.  We had grieved.  We had mourned.  And now we were excited.  The only tears that we shed that day were happy tears.  And I was so glad that we had received our diagnosis before Mason was born.  It was tough during those six months to await the unknown.  But, I’m sure, for us, finding out on that birth-day would have been a hundred times worse.

Mason's first picture!

Daddy's boy.

A family of four

Best friends from the beginning ...

And now here we are 2+ years later.  I don’t feel daggers or cry when I hear the words Down syndrome.  Life with Down syndrome is just like your life.   Mason is like any 2-year-old boy whose most uttered phrases are “mine” and “no.”  He fights with his brother one minute and the next minute he is chasing him down to give him hugs and kisses.  We go to football and baseball games where Mason chants “GO GO GO!”  Mason loves Dora, Batman, and Yo Gabba Gabba.  He goes to school and to daycare.   Mason loves to dance and sing his ABC’s.  Yep, just like any old 2-year-old.   And Owen is growing up to be patient, understanding and oh so encouraging to his little brother.

The boys wrestling

Hiking with the family

Happy boy!

Okay, so it’s not all tea and roses but whose life is, really?  What’s different, you ask?  We probably have more doctors’ appointments.  Mostly preventative stuff since they know so much about medical issues that kids with Down syndrome have an increased risk in developing.  We go to speech and physical therapy every week.   Mason gets frustrated when he can’t communicate what he wants or needs.  His speech is delayed.   The low muscle tone that comes with Down syndrome has caused developmental delays and Mason only started walking when he was 25 months old.  But, we are so encouraged by Mason’s “can do it” attitude.  You have to understand that low muscle tone means that for every muscle movement that Mason makes, he has to work twice as hard as you do.   But, he’s good natured, a worker and a fighter.   And those qualities will take Mason far in life.  

Why am I sharing this story?   With increased screenings becoming available to expectant parents, more people are receiving a prenatal diagnosis of Down syndrome.  And it makes me so sad to think that roughly 80 percent of those who found out their child would have Down syndrome elect to terminate the pregnancy.  And the way that the diagnosis is presented by so-called counselors with such a negative slant, I really can see why that happens.  I just wish these parents could open their hearts and their eyes.  I wish these parents could see beyond the stereotypes and realize how beautiful it is to be different.   I have recently become aware of a new website available with up to date and real information for expectant parents who receive a Down syndrome diagnosis and their friends and families.  I wish a website like this was available back in December 2007.   It is located at http://downsyndromepregnancy.org.  And I hope that maybe just one couple who receives a similar diagnosis stumbles upon this blog and sees a future full of hope and possibility.  

We truly believe that there is no end to what Mason can accomplish in life.  And we will be there for him every step of the way... and we have a huge support system who backs us up each day.   We know that Mason is still just a baby.  There is a long road ahead.  I still believe he will graduate from high school.  He will get a job.  He may live with us forever.  He may want to live independently (with our support). We hope that he will find true love.   That 47th chromosome makes Mason who he is.   And he is perfect.   Just the way he is.

Some of our support system at the 2010 Buddy Walk ... there are many more!

A perfect 47 chromosomes ... our beautiful boy!