Our journey through a prenatal Trisomy 21 (Down syndrome) diagnosis and beyond

I wish it were possible to recognize at the beginning of our life’s story what an incredible journey we are truly on. If so, I would have sat down years ago and begun documenting all the ordinary and extraordinary events in this amazing life I have been blessed with. Sometimes, though, it may take just one more thing to open your eyes into the beauty of the life you have led and causes you to pause and truly count the blessings that are now so many they will never be enumerated.

If you are just joining us, please go back to September 2012 to get caught up.

Friday, May 24, 2013

For the moms new to the world of Trisomy 21...Believe me, I know...

I know there are lots of new moms and dads coming into the community of Down syndrome everyday.

I know how scary it can be.

I know how strange it is to love a little person so much, but also be a bit afraid of them and what is in store.

I know the waiting for results and checkups and tests often.

I know the mixed anticipation of meeting that little one. Wanting them here safe and sound, yet wishing they could stay put where you could always protect them.

I also know the amazing feeling of meeting this little one who is genetically enhanced.

I know the tears of joy in seeing the family resemblance.

I know the sigh of relief as you hold them in your arms.

I know the trials and tribulations as all the medical tests get underway and something more might be needed for them.

I know the thrill of bringing them home as you begin your life as a family.

I know the hurt at hearing words spoken by others that now take on a whole new meaning and cut like a knife.

I know the anxiety of wondering whether they would smile, roll, hear.

I know the enormous sense of pride in milestones met.

I know the overwhelming feeling of schedules and appointments.

I know the love in a sibling's eyes when I glimpse them staring into those almond eyes.

I know love like I had never known it possible. 

I know there will be much more to learn.  

I know that is not unlike any of the children in my life, whether they have 46 or 47 chromosomes.

Most importantly, I know you may not believe this is all possible right now.  But I KNOW, you will get there too. Then you will tell others all that you know.

Saturday, May 18, 2013

An unexpected week!

I was really avoiding blogging this week. I was having many unbecoming thoughts around the hearing aids Owen was scheduled for on Friday.

It was vain and selfish.

I was so worried about him having one more thing that made him more different than alike. Don't get me wrong, I was THRILLED he would have the support he needed and it wouldn't cause possible further delays with speech and such, but I was back to those thoughts.

O had his check up with the ENT first on Thursday. To be honest, I felt like it was going to be a waste of time. He'd look and not be able to see anything and we would go on our way. Another few hours time spent in the medical world for naught. My "dream" outcome was that they would see both ear drums, see the fluid and miraculously place tubes that moment and Owen's hearing problems would be solved forever! (gotta dream big, right?!)

But, dreams come true in other ways sometimes...

They looked.
They could visualize one eardrum right off the bat.
They cleaned out both ears (small ear canals = much wax build-up) and...
They could see both ear drums!!

But....after all this he saw no fluid.

We were really hoping for fluid as that would have been the reason for the failed hearing tests all along.  No fluid meant that there was "real" hearing loss and our temporary, loaner hearing aids just became a permanent fixture.


The ENT did say that he and the audiologist disagreed on the cause of loss.  The audiologist believed it was fluid.  He did not. 


So, we left the ENT with more questions than answers.  But, frustrated.  He believed the hearing loss, albeit mild/moderate, was permanent. 

For me, that was a game-changer.  No longer was I thinking short-term about hearing aids.  It was going to be a part of our life.

I was a up a lot the night before our appointment on Friday.  Thinking and stressing.  Life hours wasted away to worry.  But, it was a necessary evil at the time.

We never expected the outcome of our Friday appointment with the audiologist.  She started off by running a retest on O's ears via the OAE.  This was the test he had failed numerous times since his days in the hospital.  I was not hopeful. 





The removal of the wax, coupled with the antibiotics clearing up the ear infection and swollen adenoids was the answer! 

She also ran the tympanigram and that also showed the results we so desired.

Unbelievable.  Seriously.

The long appointment were we anticipating, to be fitted with hearing aids was no longer.  One of our shortest on record, in fact.

In 3 months, we will have a recheck (or sooner if needed), but that is where we are today.

"Perfect. Normal" hearing.


So, for now, all is quiet and well on the homefront.  No major medical concerns (for anyone, I might add).  No looming appointments.  Just finishing out the school year and building a house, boring stuff :)

What a blessed life we lead.

Saturday, May 11, 2013

Becoming a mom

Becoming a mom is one of the most unexplainable events of a lifetime.

Those who are there can understand what I mean.

For me, it began with a tough start.  

We found out I was pregnant and were thrilled.  I was so anxious/excited/nervous/thrilled after getting confirmation from the doctor. We went for our first appointment and they couldn’t hear a heartbeat, so they scheduled us for an ultrasound.  We brought a video tape (this was November 2003—VHS was still around) to record the first glimpses of our baby.  The ultrasound tech popped in the video, squirted the gel and turned on the machine. 

She never pressed record.  

After giving us a picture of the baby, we moved on to speak with the doctor.  He told us the baby had stopped growing weeks before and had no heartbeat. 

A missed miscarriage. 


The good thing that came from our first pregnancy was our overwhelming desire to have a baby. We knew that is what our future held.  And we couldn’t wait. Unfortunately, it wasn’t in the stars right away.

About a year later, after some additional testing, we finally got the news we hoped for.  I was pregnant and due in June 2005.  

I couldn’t believe the incredible feeling of pregnancy.  Exhausting and exhilarating all at the same time. I loved my changing body.  I sailed through the first trimester and then it all started.

In March, I wasn’t feeling quite right and spoke to my doctor about it.  Being a first time mom, I had NO idea what to look out for. Preterm labor never even entered my thoughts.  That would be the last time I could say that.

After a weekend on bedrest, I was sent to the hospital.  I was 28 weeks and in labor.  They believed my water had broken.  {Now that I know what I know, I should have been scared out of my mind.  I had no idea what having a 28 week baby might entail. I am grateful that I trusted in my husband and doctors to care for us.}

1 week.  I spent a week in the hospital. Much of that week is a fog.  Between the steroid shots and the magnesium sulfate, it was a blur. I do remember feeling incredibly hot all.the.time.  Usually I am freezing.  So a vivid memory remains of me dripping with sweat, begging for another fan, while everyone else in the room was covering up and layering sweatshirts and jackets. They also performed an amnio-type test to see whether my water hadbroken.  Using a very long needle, the doctor inserted dye.  Then we were to wait over the next hours to see if the dye emerged.

The best part, we found out were we expecting a daughter. A baby girl. Our daughter.

We spent the rest of our hospital time brainstorming girl names. A fantastic distraction. 

After no dye presented itself and the contractions were successfully stopped (thank you to several medications), we were sent home on bedrest.  It was Easter Sunday and I was thrilled to be home.  I spent the next few weeks home on bedrest.  I was lucky to have my mom and mother-in-law visiting often and my friends to stop by and fend off boredom. 

On Monday, April 11, something was not right.  I knew it, but was a bit scared of what was really going on.  My mother in law drove me to the doctor and I was sent to the hospital. Contractions were on again and I was progressing in labor.  I was 32weeks.

That evening my water did break (officially) and I knew we would be meeting our little girl.  After a few short hours (I do remember watching the Bachelor!) I got an epidural and we were moved to a birthing suite to get a bit of rest before the big moment.  The moms were both there and had found a space on the floor to rest for a bit.  Ironically, I believe they had just gotten the pullout bed ready for Brian when I asked to go to the bathroom.  {Apparently, that is code in labor and delivery and I had no idea what was going to happen next.  I thought it meant I would be using the bathroom.  Little did I know!}

Within minutes, the room was transformed and there were a gaggle of staff from the floor, including the NICU.  I began pushing at bit after 1 am on April 12 and our tiny Katelyn Elizabeth was born at 1:21 am.  

4 pounds.  8 ounces. 
She cried.  The most glorious sound EVER.

They rushed her to the NICU for evaluation and Brian was able to go be with her.  A short time later, it was me and a nurse left in the room. I remember making some phone calls at 2 am. I was alone and scared and desperate to really see my baby. Patience. This was the first of my lessons as a parent.
Brian returned and updated me.  Kate was doing well.  They were giving her an IV and monitoring her closely.  It was the best news I had EVER heard in my life.  

We called the moms in and told them that their newest grandchild had arrived.  They were in disbelief and it took a bit of convincing and a trip to the NICU with dad to fully believe it.  

I think back to that time and how much faith I required.  Having a child in the NICU is an experience that I wouldn’t wish on anyone. It was also much different than the NICUs of 2013.  No private rooms.   A movable curtain of privacy.  Leaving my daughter every night. It was up early at the hospital, sit by her bedside all day in hopes of a diaper change or feeding, and leaving late at night. Only to do the same thing the next day. We spent 30 days of hands-on parenting with training.  It was a rollercoaster of emotions, but in the end we brought our baby girl home the day after Mother’s Day.
For me, it is a strange holiday.  I fully understand and appreciate the sentiment behind it.  But my first Mother’s day was not at all what I envisioned. It was kind of crummy, in fact.  I thought I was bringing my baby home, but needed to wait 1 more day.

What is Mother’s Day for me?

It is a reminder that my job description is not glamorous. My dress code is now yoga pants and my favorite tee or sweatshirt. My daily schedule is not ultra-exciting.  The goals I aim for have shifted dramatically.  But it is truly the BEST and MOST WORTHWHILE work I have ever done.

I am exhausted, but energized by a smile, spoken word of understanding or move towards further independence.  

I am hungry, but my soul is fulfilled in watching my children grow into the people of faith and character they will become.

I am not always freshly showered, but liberated in the sandbox of life with my kids.

I am a mom.

And to my kids, that is enough and more.

Friday, May 10, 2013

Our story

Here is a blog post highlighting our story of Owen's diagnosis.

This organization was an incredible lifeline for me during a very scary, confusing, yet special time in my life from diagnosis to birth. If you are looking for a worthwhile organization to support, it would be deeply appreciated.


Monday, May 6, 2013

Happy Mother's Day to Me! (everyday!)

The best work of my life 

(at ages 8, 6 3/4, 21 months and 4 months.)

"I'd rather have my hands full than empty."

4 months and rolling right along

This was an exciting and frustrating week.

Let's start with the frustration....
I LOVE polka dots! I, however, do not like them on my children.

Thursday morning it was clear something was going on with the little guy. The night before B had noticed some dots on his face. By the next day, they were popping up everywhere, literally from head to toe.

It was awful.

There were 3 possible culprits in my mind.
1. My mom (to clarify, she was visiting and snuggling and I suspected it might be her laundry soap or perfume at first--out kids have the most sensitive skin!)
2. Immunizations that he had on Monday.
3. Antibiotics from the ear infection.

After calling the doctor, they felt since it was everywhere (even between his toes!) that is was most likely a reaction to his meds. Thankfully he was almost done, so we discontinued them. And now, by Sunday, he is cleared up.


He looked awful and thankfully was not in pain or discomfort. We are good to go for the next stretch now.

And now the exciting news.... We have a roller!!! (and I finally have video evidence to support this claim!)

He had been rolling a bit this week, only when we are not in the room or looking directly at him. Stinker.

Well this weekend he has started to go crazy with it! He hardly stays on his back now and is scooting in circles! So cute to watch. It is really nice because I think it has really helped some further neck control, which is getting stronger too. So fun to see him work on milestones and reach them.

Taking it all as it comes and feeling blessed for the day :)

Thursday, May 2, 2013


I really feel like everything happens for a reason.

Too many things are coincidental in life and in hindsight, many more carry deeper connections that originally seen.

It has been incredible to me how many amazing people I have already met during this introduction to the community that is centered around Down syndrome.  The connections come in many times a day.  A new good friend who lives across the world started a site for women with a prenatal diagnosis. this alongJust this week, 2 new women joined the group that are within hours from me.  Wow. One of which is now in contact with a member from one of the FB groups because they live so close to one another! Double wow.

I get emails weekly from some lovely soul that has read this blog that has a new diagnosis.  I get emails, calls and messages from friends and family that have a friend or friend of a friend that has come into the DS world (often without warning).

To the readers that I do not know - thank you for reaching out.  I am completely humbled when I am told that our story has touched a life and/or made a difference for you and your family as you jump in the deep end.

To those that I know that pass along my information, blog, anything!, to someone in need of support - thank you (from me and from them!).  It may not be something that everyone is ready for right away, but it is a great resource to have when that time comes.  One thing that I have grown to understand is how differently this diagnosis impacts lives.  Each person comes to their own terms in their own time.  The more resources available for that time, the better.

To those that read and follow along with our lives - thank you for your love and support.  I have to say that with this diagnosis has come some pleasant surprises.  People that I have lost contact with have reconnected and shared stories of faith, hope and love. People that I would consider acquaintances before have become great supports.  People that I never even knew (from places I never even knew existed) know more about my life that some of my closest friends.


And all because of one extra chromosome.

Here is a list that I wanted to provide for those of you that may be following this (although I still really think it is my sister in law and mom only!)  Please feel free to join us, if you are in a category that applies.  Or, if you know someone that would benefit, please pass it along.

T21 Pregnancy Support FB group

Parents with kids rockin' the extra chromosome FB Group:

BabyCenter Down Syndrome Pregnancy Board:

BabyCenter Down Syndrome Board:

Down Syndrome Blogs:

Gigi's Playhouse

Down Syndrome Pregnancy Information

A long overdue update!

Whoops.  Can't believe I haven't blogged in weeks.

Well, actually, I can.  I seem to need about 3 more hours in each day currently.  So it really isn't that surprising that I can't find moments of clarity and in front of the computer at the same time.

Where have I been, you may ask.

House planning.

It is such a cool process, but it also takes a nice portion of time to get this right. I cannot wait for it all to be done - but this journey will take a bit more time.  We are hoping to move by the end of the year.  (what an awesome Christmas gift that would be!)

So, I will try to bring everyone up to speed.

The latest on Owen...
The little squirt is really starting to show his personality.  We get to see smiles often now and it is truly one of the greatest things ever!  I have recently found his tickle spot and have heard a few giggles too.  Nothing sweeter sounding!  He has rolled over from his back to his belly and really scoots in circles on the floor.  In the morning, he is never in the same spot in his crib!

Medically, we have moved forward with getting ready for hearing aides.  He had impressions made last week and they will be ready next month.  We believe this will be a temporary fix as fluid in his ears seem to be the issue.  But, we cannot do anything about the fluid until his ear canals grow.  Hopefully it will only take a few months. And, in the meantime, he will have the help he needs to hear loud and clear.   Both sides improved at the last ABR test, and the left side seems to be the side that needs more support.  We decided, though, to get an aide for each ear for now.

And, although it has been a loooonnngg week here, we are feeling validated in our decision. Owen had a few very fussy days and nights.  Sleep was hard to come by unless he was held.  Unfortunately I came down with strep and felt terrible too.  When I took him in, our pediatrician believed he had an ear infection, based on his symptoms. The crummy part is that his inner ear structures are not visible, so we had to use the other symptoms. Sure enough, after a day of the antibiotics, he was back to himself.  Thank goodness! Next time it comes up, we will be at the doctor much sooner!

So here is the crazy part....we had a sleep study scheduled for last week and cancelled it since he wasn't feeling well.  We were doing the sleep study because he is a terribly loud sleeper and woke himself gasping several times a night.  Scary.  His pulse ox levels were always ok, so I wasn't super worried, but it sure sounded much different that our other kids sleeping.  The crazy part--once we started the antibiotics for his ears, he has slept like a baby!  He is back to sleeping through the night and it is so quiet! 

We are convinced his loud sleeping is related to his ear fluid, so we are trying to decide whether or not to continue on with the sleep study next week.  Time will tell...

He returned from a week's vacation with grandma and grandpa in great spirits.  A little special TLC and he is over his cold too.  Potty training is going pretty well and hoping we can get it done before the summer starts.  He is starting to use more words and his favorites are: uh oh (in perfect tone), no and alright.  So grateful for the nicer weather and having play time outside--he missed it!

Nearing the end of 1st grade.  Wow.  How is that possible?  Currently he is front-toothless and cracking us up everyday.  He truly is one funny little guy.  I have to find a good balance between laughing with him and remembering to not encourage it too much.  (You know how interesting a boy's sense of humor can be!) He and Kate participated in a regional speech meet last month and both earned Superior awards.  So proud!

Our baby turned 8 last month and will be a third grader next year.  Double wow.  THAT seems even less possible somehow.   She is surely growing up fast and acting more and more like a young lady. The speech meet is a great example....last year she cried at school because she was so nervous.  This year, she went on to the regional meet.  Her confidence is building and it is so nice to see.  That girl is going to make a big difference in the world someday.

The school year is drawing to a close and it is hard for me to believe that it has been nearly 2 years since I left my job at school to start this adventure as a stay at home mom.  I never knew what all this would entail, but I would not change it for the world!  Reminds me of a quote from one of my buddies:

"I wouldn't change my kids for the world, but I would change the world for my kids."