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.

Tuesday, February 26, 2013

10,000 ??? Holy Cow!

I just noticed that my page has been viewed over 10,000 times.  That is CRAZY!  I guess a few people are reading this :) 

Another interesting week here on the home front.

Colton went back for his recheck on the leg and it is healing well.  No more restrictions!  He is still favoring it a bit, but running around like a mad man again which is great to see.  We even got outside a bunch this weekend, so that was WONDERFUL!

The older crazies are hanging in there too. They have been pretty helpful (especially the little lady) and are getting ready for a vacay at Grandma and Grandpas.  I am excited for them--they deserve a fun trip!

Mr. Owen made an unexpected trip to the doc today. 

Yesterday, I was not quite quick enough with the bottle preparation and he was TICKED OFF!  I haven't really heard him scream like that before.  (Whomever said kids with DS are happy all the time is WAY off base, at least with O!)  After the fit, I noticed a bunch of little red dots all over his face and forehead. 

Then I made the greatest mistake one can make. 

I Googled it.

Not a good choice.

I did find pics right away that showed what he had.  Petechia (please do not ask me to pronounce it!).  Then I started reading about it. 

Even worse choice.

From the Mayo Clinic site:
Petechiae (pronounced puh-TEE-kee-ee) are pinpoint, round spots that appear on the skin as a result of bleeding under the skin. The bleeding causes the petechiae to appear red, brown or purple. Petechiae commonly appear in clusters and may look like a rash. Usually flat to the touch, petechiae don't lose color when you press on them. 

Petechiae may indicate a number of conditions, ranging from minor blood vessel injuries to life-threatening medical conditions. 

A number of things — including prolonged straining, certain medical conditions, specific types of injuries and some medications — can cause this bleeding. 

Prolonged straining
Tiny petechiae of the face, neck and chest can be caused by prolonged straining during activities such as:

  • Crying
  • Coughing
  • Vomiting
  • Childbirth
  • Weightlifting
Certain medications
Some types of medications can result in petechiae, including:

  • Aspirin
  • Atropine (Atropen)
  • Carbamazepine (Carbatrol, Epitol, Tegretol, others)
  • Chloral hydrate (Somnote)
  • Cimetidine (Tagamet)
  • Desipramine (Norpramin)
  • Indomethacin (Indocin)
  • Morphine (Avinza, Ms Contin, others)
  • Naproxen (Aleve, Anaprox, Naprosyn)
  • Nitrofurantoin (Furadantin, Macrobid, Macrodantin)
  • Penicillin
  • Quinine (Qualaquin)
Infectious diseases
Some types of infectious diseases can cause petechiae on the skin, while others may result in petechiae on the inner surfaces of the mouth or eyelids. A variety of fungal, viral and bacterial infections can cause petechiae, including:

  • Cytomegalovirus (CMV) infection
  • Parvovirus infection
  • Endocarditis
  • Hantavirus pulmonary syndrome
  • Meningococcemia
  • Mononucleosis
  • Rocky Mountain spotted fever
  • Scarlet fever
  • Sepsis
  • Strep throat
  • Viral hemorrhagic fevers
Other medical conditions
Many noninfectious medical conditions also can cause petechiae. Examples include:

  • Hemolytic uremic syndrome (HUS)
  • Idiopathic thrombocytopenic purpura (ITP)
  • Leukemia
  • Infantile scurvy
  • Vasculitis
  • Vitamin K deficiency

UMMMM....OK... This is where I freak out.

Remember that  O is just 2 months old (almost).  There are many things on those lists that are bad, but become REALLY bad when it involves an infant. The one that stuck out was Leukemia.  I know this is semi-related to DS, so this really sent me reeling. 

The only thing that helped me out was that they appeared right after his crying fit.  I hoped that it was just due to the straining, but I began to get that pit in my stomach.  We have been so lucky in terms of health with Owen and all that he could be facing.   I was preparing myself for the other shoe to drop, so to speak. 

I called the pediatrician's office and they set an appointment for the morning, nothing I needed to rush in for, but something that should get checked out since he is so little.  After chatting with several of my Rockin' DS moms on FB, I was feeling better.  I am so glad to have their support!  What an incredible blessing in my life.

Anywhoooo....We went in this morning.  Doc confirmed it was petechiae and ordered blood work to check on things.  Within 5 minutes, the tests were complete and levels were normal.  Phew.  One was a tad high, but she thought that could be due to a virus.  Ironically he left the doc's office with even more dots because of the heel prick for blood--a good scream fest that I don't blame him for one bit.   Poor little guy!

So where does this lead?  Thoughts.  Dark, yucky, icky thoughts.

This was really a reality check for me. If it were one of the other kiddos, I never would have taken them in.  I realized that my level of worry is going to just be greater with O-bug.  I was so worried that this was the moment I was going to find out what terrible things were in store for him. I was so worried that this was going to be the day I thought "Wow.  Down syndrome really is the worst thing that could have happened to us." 

But it wasn't.

And it isn't.  By a long shot, even.

As I was chatting with some of the moms last night (and early this morning) I was really reminded how RAW this is all still.  I have been caught up in the day to day crazy since O arrived and have just done what needed to be done. 

This is what I am feeling most days. Dory just might be my new hero. :)  I gotta find a shirt like this.

I realized that I need to keep blogging, talking and writing.  I do not have time for meltdowns, so I am going to try to be proactive and have mini melts along the way :)  Healthy, right?  Not really, but I will keep thinking about it all and processing the emotions and feelings along the way.  I have several posts that I have started around several topics including helping other parents in the same boat and the use of the R-word.  Look for them to come sooner than later, I hope. 

Until then, check out this site--a great resource and reminder on how the "R word" is unacceptable.

Monday, February 25, 2013

Join Me!

March 21 is World Down Syndrome Day.

3/21 to represent the 3 copies of the 21st chromosome that Owen is rocking.  (I've read some moms refer to this as having "designer genes!")

At any rate, this year I would like to do something to start giving back to the DS community that has been so welcoming.  It is a family I never knew I would need so much!

A local business, The Social Canvas, will be doing a fundraiser that evening to raise funds for the local organization GiGi's Playhouse.  The Social Canvas is an art studio where you create your own work of art!  Part of the fees will go right to them in celebration of the day.

I would love to have friends join Kate and I that night.  We are planning it as our own little girl's night out. 

Please follow the link for details and to get registered! 
Here is the artwork we will be creating that evening.


Sunday, February 24, 2013

Milk. Boo.

Well, it was bound to happen. (although I was wishing it wouldn't)

We are now 4/4 for milk allergies and kids. Boo.

A few nights ago, O started with bumps on his face and spitting up.  Tell-tale signs from the kids before.  After a few more feedings and some research, we decided that going back to the Nutramigen was best.  Even after a day, I think the little guy is feeling better.  So it is so worth it.  Back to scavenging for Enfamil rebate checks ;)

Other than that, things are status quo around here.  It is a bit crazy with four little people and it seems as though there is never enough time to spend with them, my hubby or myself.  Hoping that things are settling down a bit and that we can resume a more normal schedule.  That will help a lot.  I am also realizing how much I do for the kids that they could potentially do themselves.  No more enabling, I suppose...

I am confident we will find a new rhythm soon and the nice weather that seems to be on the horizon will help a lot too.  Having a baby in the winter is a big change.  It can be isolating with several little people at home (I am pretty sure Target employees notice my absence) and I am missing the adult time and cinnamon crunch bagels at Panera, but this too shall pass (I hope!).  It becomes even more of a challenge when we are home bound.  Thankfully the weather is warming up and the discussion of windchills is becoming less.

It was gorgeous here this weekend with the snow and we were able to play outside.  Colton is almost fully healed so he was THRILLED to be able to play outside and even sledded with us a bunch.  What a fun time!

Praying for continued good health in our home and the new normal to settle in. Enjoy some pics of my favorite people in the world :)

Saturday, February 16, 2013

Worry ends where faith begins

I used to get cold sores all the time.  The slightest amount of stress can effect my body almost instantly.  Now, in no way am I suggesting that my previous life and job were so incredibly important that I was stressed out all the time.  I merely believe I was burning the candle on both ends (and possibly the middle too).  Between family, work, teaching classes and taking classes, I was busy. 

Since staying at home, I have only had 1 cold sore.  In a year and a half.  I am still busy, just in a different way.  It is so nice to have the option to "let something go" for the day (i.e. cleaning, laundry, etc.) in lieu of spending real time with my kids.  My "boss" doesn't mind at all and I rarely feel too guilty about it.

Today feels like one of those days. Two children are on my heart and mind today.

During middle of the night feeding, I read a story about a family with a 2 year old daughter named Sophia.  She has been battling leukemia and they made the heartbreaking decision to put her on life support in final efforts to save her life.  Sophia also has Down syndrome.  The link between the two is not coincidental.

The association of Down's syndrome and leukemia has been documented for over 50 years. Multiple studies have established the incidence of leukemia in Down's syndrome patients to be 10- to 20-fold higher than that in the general population. The age of onset for leukemia in these children is bimodal, peaking first in the newborn period and again at 3-6 years. This increased risk extends into adulthood.  From ~ http://www.ncbi.nlm.nih.gov/pubmed/2955886

This is one of the yuck sides of DS.  An additional worry in life.  O's first round of bloodwork was just fine, but who knows what the future holds?  For any of us for that matter.

To follow her family's story, please visit this page ~ https://www.facebook.com/BabySophiaJoy

The other kiddo is one that no longer walks in this life with us.  Eli was a classmate of my daughter's.  He was diagnosed with neuroblastoma at 3 1/2 and fought his battle with cancer a until he went to begin his life with Jesus last year.  He was 7 years old.  A first grader.  Yesterday would have been his 9th birthday.  His family's journey is also one that inspires me daily. It puts so much into perspective.  Although they journeyed through some of the most awful things with Eli, their faith and love in Him saw them through. Eli had a clear purpose here on earth and so many were impacted by his all too short life here.

Kate talks about Eli and his smile and laughter.  It was a hard time last year when he wasn't able to return to school and have to talk about things with your child that you would never hope to.  But the faith children have is admirable. After he passed, I knew those at school and we at home had done our job.  Kate's response "Now he gets to live with Jesus!"  Yes, bug, he does. Forever. 

Below I have linked his Eli's Army pages and the video from his Celebration of Life.

http://www.elihorn.com/blog/ or  https://www.facebook.com/elisarmy

Celebration of Life Video ~Eli

Why include these today? 


No matter how long my days might seem, there is someone that wishes the day would never end as it might be their final moments with someone they love.

We never will know what path is laid out before us.  I must trust and have faith that all will be as it was intended to be.  The highs will be high and the lows may be low; but they will be nonetheless.

Monday, February 11, 2013

Keeping on keeping on

It has been a few days, but things are still going very well here. Colton is getting around better, although he still limps.  The older kids are staying healthy and Owen is good as well!  I am knocking on wood that none of us had gotten sick other than the head colds that seem to linger, but I will take that over any of the other junk going around any day!

My laugh for today comes in appreciation of civic duty.  Don't get me wrong; I am a social studies geek and would love to serve on a trial.  I am fascinated by our government and its processes. I just can't fathom doing it right now.  I had gotten called in the late fall, but due to my pregnancy and complications, was deferred to now.  I submitted and excusal for this time as well, due to nursing and being the primary caregiver, and it was denied until I have a letter from a health care provider. 

Love the nurse at my OB's office.  When I called and told them, she just said "Like you don't have enough going on right now?" She said they will have a letter for me this afternoon. :)  So we will see!

Otherwise, we have Owen's repeat ABR hearing test scheduled for the end of March.  Thankfully they are going to do it again WITHOUT having to sedate or put him under general anesthesia.  If they do it after 3 months, that is the case. Praying that we get some answers that day and that we don't have to pick out baby hearing aides anytime soon!  But, whatever will be will be and we just want him to have what he needs.  So another we will see!

B and I have met with a few other builders and the more we plan and process, the more I just want to be in a new house!  I know it will be a lot of work, but we can't wait to have more space for everyone (although we will surely still be on top of each other all the time, I'm sure!).  Hoping to be in the new place by this time next year!  But (you guessed it!) we will see!

The best quote I have heard lately: I'd rather have my hands full than empty.  

That says it all for me.  I'd much rather have the crazy chaos of life than a quiet house with no little ones.  Things may drive me crazy, but they are what this life is truly about and I need to remind myself how lucky and blessed we are. 

I'd rather have my hands full than empty.

Tuesday, February 5, 2013

ABR -- Take 1

Owen was a perfect patient today during his hearing test. He was hooked up to several things, but I got to snuggle him the whole time and he slept like a baby :)

The really good news: He is NOT deaf!  (Honestly, before this week when he started to be more irritated while he slept, I thought this was a definite possibility)

The other news: As of now, he has mild-moderate hearing loss in both ears.  It is conductive hearing loss, so it could very well be temporary or due to fluid in his ears.  Because of his tiny ear canals, they cannot rule the fluid in or out at this point.

Our plan:  Redo the test in 2 months.  If there is still hearing loss at that point, he will get teeny, tiny hearing aides and his speech development should be on track still.  This is good news.

As goes most things in our life, "Time will tell!"

Can you hear me now?

Today O goes for hisABR hearing test.  Hoping that they can get an accurate test completed at that we have some answers by the end of the day. 

With babies with DS, it can be really difficult to get an accurate hearing test complete because of their tiny ear canals.  This is so true for Owen and I am hoping that is the reason the screenings have all been failed (also not uncommon with the diagnosis). 

The test can last up to a few hours and I need to keep him asleep.  This will prove to be the interesting part as the little stinker is really starting to be awake a lot more during the day. 

The great thing we have noticed is that it seems he is reacting more (and becoming irritated by) sounds around him; namely those made by older siblings.  You can imagine the volume that occurs in a small house with 3+ children. During the winter.  When they can't run off as much energy. 
Poor Owen.

So we will see what is up (hopefully) today.

Cutest thing from this week....We were watching Spy Kids 4.  For those of you who haven't seen it, the boy in the movie, Cecil, wears hearing aides.  Kate watches and says "Wow!  Owen could get really cool blue hearing aides if he needs them.  Wouldn't that be awesome?"  Then she and Andy began a debate as to what color would really be the best.  (Andy is partial to green or orange)

A heart hug!   They help me to see the positive (or at least not so scary) side of things.  What a gift my kids are to me!

Other than the hearing test, we are doing well here. 

Colton is starting to walk around more, although it is clear his leg is still tender and not 100%.  He goes back for a re-check in 2 weeks.

Kate and Andy are doing great.  Now that things have calmed here a bit, that has helped us have more time as a family and one-on-one with these two also.  They have been SO helpful with Colton especially and I am so glad that they are willing to step in and help out. 

The other "big" thing is starting to move forward with our new home adventure.  We are starting to interview builders and I am so excited to begin the process and have some additional space for our family.  This will also be an extra addition to the crazy here- but well worth it!

BTW--after my last post I got several messages from dear friends checking in on me.  I really am OK.  It just was one of those days.  (Could be hormones too!)  I just need to take those moments for what they are when they come and move forward.  Which is not so hard when (at least) 2 little ones need you. 

Keeping the faith!  (JT, do you see the BJB reference???  Is it April yet!?!?)

Friday, February 1, 2013

A moment

The house is quiet...
(for the moment-which I have now probably jinxed).

Today was one of those days.  Not really a minute to just be.  

The great news: Colton got his cast off.  

The less than great news: We are supposed to keep him off of it for the next week (Insert laugh here).

B took him so that Owen didn't have to go out (the "high" today was still -20 with the windchill).  When he relayed all the doctor said, I was ticked.  How on EARTH am I going to keep him from walking?  For a week.  While taking care of a baby.  Oy.  

And it is clear the little guy is still not comfortable, so it broke my heart this afternoon when I was feeding O and he got off the couch and tried to stand up against the ottoman.  Crying commenced almost immediately and he sat down.  

I lost it too.  I think it was probably a lot of pent up frustration with the lack of control in life right now, but I needed the moment.  I held Colton and we just comforted each other and had our moments.  

Thankfully he did much better as the night wore on.

Why do I include this tonight?  Not sure.  All is quiet and I ate dinner (at 10 pm, but who is counting?) and I have a few minutes to think.  

That is the scary part!

Yesterday it occurred to me that I needed moms around me. My husband has been extraordinary through all this, but he can only listen to me so much.  I have AWESOME friends and family that I can call at any hour (and have!), but I was feeling this deep need to connect with other new moms to the DS club.  

There are local groups here and I have met several moms and communicated with others, but many of them have older kiddos.  They have been INVALUABLE in sharing their experiences and I am so grateful for their willingness to share. But, I was \also looking for other moms that are right in the thick of things. And I found them!

I put together a FB page and invited other new moms to join me.  As of tonight, we have 24 members!  So many cute little squirts to look at and read about their journey.  It has been just what I needed and I am so excited to get to know these women and families from around the globe. 

Reading their stories today has helped me re-center myself. 

We all have a path to follow and walking it with others can be powerful.

I would never have guessed that after an incredible snow day home alone with 4 kids yesterday it would have been that moment with Colton that would have caused a meltdown today. Funny how those pesky emotions pop up when you least expect them to, huh?