The “extra” chromosome

A lot had happened in such a small amount of time. Between bringing our little Hannah into this world, the rollercoaster of emotions I was feeling and this beautiful “learning curve” when you become a parent. It’s a lot of new information in a short frame of time, so thinking that something could be “wrong” with our beautiful and perfect baby was not in our radar.

One of the doctors came to our room to speak in private, so my family stepped out. The anxiety made its appearance in me and my husband and we sat holding hands.

As the doctor kept talking, he mentioned Hannah presented several DS features based on his initial diagnosis, a straight line across the palm of her hand and the right toe being slightly separated from the second toe. He also mentioned the 4.5% of translucency liquid found during week 12 of my pregnancy.

He wanted to request a test called chromosomal karyotype using a sample of Hannah´s blood and the results would come back between 2-3 weeks.

I saw nothing but beauty and perfection while holding Hannah and as the doctor explained these features my husband and I had a huge question mark face because we both have these features: me: the straight line in the palm of my hand, my husband: his toe is slightly separated from the next finger. I guess we were trying to keep our cool, staying positive and strong as we possibly could.

As mentioned earlier, we would go into the NICU for a couple of hours to visit our little angel in her “tanning bed” (incubator) and we couldn’t wait for her bilirubin levels get to go down and take her home with us.

During one of our visits, the doctors and 1 of the nurses called me and my husband to talk in private… again.  We were like “NOW WHAT?”.  Doctors wanted to keep Hannah a bit longer in the NICU under observation because they noticed she was experiencing an irregular breathing pattern.

Her oxygen level was irregular so they had to use a continuous positive airway pressure (CPAP) machine, which keeps the airway open by blowing air into the nose through a mask during sleep. This was not a pretty scene. There she was, all alone inside an incubator, full of cables, her little ankles scratched because of the tags or the blood tests they ran on her every now and then and there was nothing we could do but to wait, stay strong, hoping everything would turn out ok.  My husband stood all the by my side, holding my hand and telling me that everything would be ok.

We thought how cute Hannah always sighed when sleeping until the doctor said that she did it because she paused her breathing.

We finally got the most important phone call, the chromosomal karyotype results had arrived. The results confirmed the doctor’s hypothesis and yes, our Hannah had the extra chromosome, Down syndrome.


My husband and I saw our world fall before our eyes. You feel naked, you can´t stop crying and you fear for them. One billion questions started to go through our heads:  Is she going to be ok? will she live a healthy life? will she be able to attend regular school? how long will she live? are there any limitations in her diet? socializing? will she be bullied? Marriage?  GOD…so many questions that scared us so much.

Bouncing back to reality, we continued listening to what the doctor had to say. He said he was extremely happy with Hannah´s case because now he was certain that her “oxygen problem” as we used to call it, was Sleep Apnea. DS children tend to have low muscle tone and the muscles of the upper airways relax back causing an airway obstruction.  He was extremely encouraging in saying that it was just a matter of time for Hannah to outgrow this “condition” by strengthening her neck muscles.

Go and enjoy your daughter as soon as she’s released from the hospital and remember: she’s like any other baby or quoting Baby Center: “Every kid is an individual”.  Hannah is a healthy baby, there’s nothing wrong with her vision, her hearing and especially her appetite, as she always ate like we had her on “starvation mode”.  Hannah was gaining weight, more alert each day and her skin color was just perfect.

Another thing we will never forget, is that this doctor said to us:  “Don´t be selfish. Many parents get scared asking themselves questions about what is their baby going to be able to do, social skills, etc., but in reality they are being selfish because their baby will be O.K. and happy.  It is parents who are afraid of the unknown and time will show you how amazing this path is and how blessed you are with Hannah”.


He went on by saying how lucky we were and not to over stress with the sleep apnea situation. Most important, he emphasized not to consult “Saint Google” if we had any inquiries or doubts about T-21. Google can be very misleading and people tend to misinterpret information that is been provided and/or things that didn’t relate to our daughter’s case.

We walked out of the doctor’s office only understanding half of what he said, but we definitely felt relieved in a way knowing that Hannah would never lack care, love and support. The big question remained: When can we take her home?