Confirmed Down Syndrome Diagnosis

DS DX HospitalSomething in me told me that our little girl was going to be born with down Syndrome after the second ultra sound given the soft markers.  I studied her ultra sound picture a thousand times in my mind searching for answers.  I denied the amnio since it didn’t make a difference to me whether she was born with the extra chromosome or not.  Not knowing was almost easier for me.  My amniotic fluid level was high; therefore the doctors did not want my water to break for fear of placenta abruption.  At my 37 week appointment a C-section was scheduled for a week later.  The OR notes for my C-section sent by the specialist was very in depth.  A cord blood test was ordered upon her birth to validate what they felt was very possible.  At birth we all knew she had the extra chromosome.  She was born on a Thursday and the confirmed diagnosis was given to me that Sunday.  I immediately texted my hubby to let him know that she did in fact have Down Syndrome.  His response was “so she’s perfect then”.  He couldn’t have responded in a more perfect way than he did at that very moment.  I felt his love completely embrace me miles away in that hospital bed.  Our friends and loved ones were wonderful.  I only heard words of love and excitement that she was okay.  I will be forever grateful to them for never once offering words of condolence towards her new found diagnosis.  I was flooded with topics relating to babies with “special needs”.  It was a little overwhelming, but I tried to politely accept the information, when all I wanted to do was take my perfect newborn home and get on with our life.  To everyone’s surprise, she never entered the NICU.  She did stay one day longer than me to be treated for Jaundice.  Months after her diagnosis were filled with many medical appointments and tests.  Her weight went up and down over the first month.  The required weigh-ins became very frustrating.  Finally, at her 2 month appointment everything seemed to start balancing out.  She was and still remains in the overall 5th percentile, but she continues to grow and amazes everyone who meets her.  She is on track with many of her first months milestones as if she was never born with Downs.  She adds laughter and so much joy to our family.  We couldn’t possibly be any more blessed than we already are.

  • Her Echocardiogram came back showing that her heart looked perfect.  We were simply waiting for the flap to close.
  • The ultrasound of her abdomen showed everything looked well.
  • The narrowing of her stomach corrected itself within a couple days after birth.
  • She struggled with nursing at the hospital, but once we got home and she was in a comfortable environment, she immediately latched and fed like a champ.
  • The follow-up appointment with the pediatric cardiologist showed that the flap did in fact close, and no further follow-up was recommended.
  • She turned over from tummy to back at 5 weeks.
  • She turned over from back to tummy at 2 months.
  • She smiles and giggles.
  • She frequently makes eye contact.
  • She is aware of her surroundings.
  • She communicates just like any other baby would.
  • She loves her hands and studies them for long periods of time.

Overall, we have a very healthy form of Downs.  We are aware that there will be struggles in the future, but we are so glad that she is a part of our life.

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