Karis' Diagnosis

As many of you may know, we just recently had our second child.  Karis Grace was born on May 18th, 2013, coming in at a whopping 7 lbs 2 oz and 20 inches.  After Karis was born, our midwife saw several physical markers during her newborn evaluation which tipped her off that Karis likely had Down Syndrome.  She was so careful to tell us gently (we had no idea and weren't expecting it at all), and to advise us on a few of the implications for our family.

I'm listing the markers that our midwife noticed below, for those who are wondering what the 'markers' of Down Syndrome might be.  There are technically more markers that children with DS can have which Karis did not, and honestly some of them are subjective enough that two different medical professionals might come up with slightly different lists for the same child.  Our midwife also clarified to us that having these markers was not a guaranteed diagnosis of Down Syndrome (only a blood test can confirm it).

• Low muscle tone (called 'hypotonia', where babies appear "floppy")
• Flat facial features
• Upward slant to the eyes (called 'almond' shaped)
• Single deep crease across the center of the palm (called a 'Palmar' crease)
• Hyperflexibility (excessive ability to extend joints)
• Enlarged fontanels (soft spots on head)
• Increased thickness at the back of the neck
• Pinky curved slightly inward

The Diagnosis

When we went to our 2 day check up at the pediatrician's office, he agreed that it looked likely that Karis would have Downs.  He ordered a blood test to count her chromosomes (Down Syndrome is a genetic condition where a person has an extra chromosome, which happens at conception.).   Karis was officially diagnosed with Down Syndrome 2.5 weeks after her birth when the results of the blood test came back.

Her specific type of Down Syndrome is a basic Trisomy 21 (she has three 21st chromosomes rather than the typical two) and was spontaneous (as opposed to inherited), meaning that neither Hugh nor I are carriers.  This is the most common type of Down Syndrome (~95% of people with DS have this type).  The genetic specifics of Down Syndrome are very complex, and there seems to be many unanswered questions about the hows and whys behind it.

Although we don't understand many of the details behind Karis' diagnosis, we are confident in one thing- God made Karis just the way He intended.  There were no mistakes in the way she was created.  Psalm 139:13-14 gives us the basis for this important and comforting truth:

"For you formed my inward parts; you knitted me together in my mother's womb.  I praise you, for I am fearfully and wonderfully made.  Wonderful are your works; my soul knows it very well."

My Reactions

My initial reaction when our midwife informed us about Karis' likely genetic abnormality was one of surprise.  We hadn't been expecting this, and I knew so little about Down Syndrome that I was dumbfounded for a while, especially since she looked & acted just like Enoch had at this stage.

Then came grief.  Not grief over Karis; grief over the death of many of my expectations.  And grief in the face of much uncertainty.

Next for me came comfort as friends & family encouraged us and shared Scripture with us. At very critical steps along this path, the Lord has used people to remind us of Him.  One amazing example was this text, which was waiting for me after the doctor's appointment where Karis' Down Syndrome was confirmed:  "Rejoice always, pray without ceasing, give thanks in all circumstances; for this is the will of God in Christ Jesus for you."  (1 Thessalonians 1:5:16-18)  That was a solid truth that shaped how I saw Karis' Down Syndrome - I was to be thankful for it.

For now, I am still walking in that place of peace & comfort.  And when my heart allows worries to rise up, God is gracious to restore my peace by reminding me of His goodness and faithfulness through His Word.   

You keep him in perfect peace whose mind is stayed on You, because he trusts in You.  (Isaiah 26:3)

Moving Forward

Up to this point,  Karis has been a pretty typical baby.  She's nursing & sleeping great, and she is well over her birth weight as a result, which our pediatrician was pleased by.  Although she did exhibit some hypotonia at birth, she is gaining strength and is quite able to squirm around when lying flat on her back or tummy.  She's also kicking those legs hard enough now to make diaper changes challenging.  ;)

Because babies with Down Syndrome are at a higher risk for certain health problems, we will have more testing done in the next few weeks- thyroid, heart, hearing, complete blood count, etc. We also just got enrolled in the early intervention program through the state in which Karis will be able to receive therapy as she develops and we see the areas where she has special needs.  For now, the only 'special' things we were encouraged to do with Karis were plenty of tummy time and exclusive breastfeeding.  Tummy time is the best way for babies to develop and strengthen their core muscles while breastfeeding raises IQ and strengthens baby's jaws.  Technically both of these things are what we would've been doing with our newborn, with or without the DS diagnosis, so they're not truly that special in my book.  ;)

As we look further into the future, there are certainly many unknowns.  We really appreciate those closest to us who have stepped up and said, "Even though I don't know much about Down Syndrome, I want to learn so that I can love Karis well."  That means the world to us, especially since it means that we'll all be learning together.   I hope to use this blog as a place to share what Hugh & I discover about Down Syndrome as well as to chronicle our precious daughter's journey through life.

For now, I want to end with a great video about Down Syndrome from the Down Syndrome Guild of Greater Kansas City.  It covers many of the basics about DS, features kids with DS and their friends, and demonstrates many ways that people with DS are "just like you."