Baby Nicholas born at 27 wks with Apert Syndrome

His Courageous Journey 

Born Prematurely at 27 weeks with Apert Syndrome 

Day 1

Around 5:30 pm on Wednesday the 24th of June 2020 I check in my wife, Diana, at Santa Clara Valley Health Emergency in San Jose, California because of abdominal pain and vaginal leakage, she is 27 weeks into her pregnancy so we are not expecting anything serious just a routine checkup and an assurance that everything is fine.  In her last doctor’s visit two weeks ago, her OB had once again told her everything was going as it should just like she had told her on all her previous visits.  However everything was not ok.  Our world was about to change forever  when at 7:47pm little Nicholas Aaron was brought into this world weighing in at 2 pounds and 10 ounces.  He was tiny and underdeveloped and then the doctor called me over minutes after having delivered him and told me about his hands, feet and ears.  There were several abnormalities within his fragile body, his skull, eyes, nose, ears, hands and feet all were characterized by what is called Apert Syndrome.  Fear, anxiety, disbelief, confusion and  anger replaced joy, relief, and gratitude in welcoming our second child together into this world.

Attempts were made to take him off the ventilator and have him use an oxygen mask, but they didn’t work.  His face/nose are too little and his lungs are not strong enough to hold the mask on appropriately and to breathe without the respirator at this point.

Day 2 

Emotions were strong, tears were heavy, uncertainty thick in our new reality.  The doctors explained a bit about this terrible rare genetic mutation, this error in cell replication when Nico was in the womb. He assured us it was not either one of our faults that this had happened, It  simply was a very bad stroke of luck.  He was diagnosed with Dysmorphic Craniofacial features, Craniosynostosis, Respiratory Distress Syndrome, Syndactyly of Multiple Sites, Airway Trauma, Patent Ductus Arteriosus, Apnea of Prematurity, Hyperbilirubinemia of Prematurity, Hypotension and Anemia of Prematurity and then all of what Apert Syndrome has in store for him. My wife and I quickly came together vowing to do whatever was necessary to help our beloved son, we still felt hazy as if we were in the same bad dream just waiting to wake up but we made a plan to change that night.  Change as people, change in the way we see the world, the way we will treat Nico, treat others and treat each other.  A sudden rush of warm adrenaline filled my body, a renovating sense of being conscious for the first time in my life.  I felt as if my priorities, my values, my love, my soul had been reset and cleansed.  I knew this journey with my son would be difficult, a million times more for him than for my wife and I.  I was aware of the sudden sacrifices that had to be made and will have to be made, but I was not afraid of the challenge.   This was not a punishment from God but a blessing.  God brought us this child because he knew that my wife and I are capable of loving, caring for and bringing out the best of this little person.  It was no longer a challenge but an honor.  At least I now have to believe this to make it through.

There were several complications with him, including some bleeding inside the head around the ventricles however the  doctor made it clear to us that the only thing important at this point was to help him breathe. Period.  Being born so young, his lungs being  underdeveloped he needed to be put on a ventilator.  24 hours after he was born they had found an extra opening in his trachea and to verify if it was just a ‘tear’ from the tube or if it was a false airway from a defect.  They had to transport him by ambulance to the Lucile Packard Children’s Hospital at Stanford.  I hurriedly signed the consent forms as people were scrambling left and right, someone was called in to baptize little Nico.  I never in life have felt such sorrow, such helplessness.  In the midst of all this chaos came the compassionate voice of Doctor Christina from Santa Clara, who guided me through all this and to top it all when I was ready to go meet Nico over in Palo Alto she sent me a touching message, ‘Yes I’m praying for you all.  Nicholas is a beautiful strong person. Stay strong for him!’.

Now at Stanford he goes immediately into surgery to see what is going on in his air pipe.  About 3 hours later the doctors come and talk to me with warm, calm expressions.  It was a success.  They believe it is just a ‘tear’ and they have hope that it will heal on its own in a week.  2 days of life, 2 grand victories for Young Nicholas Aaron!  His oxygen levels were all brought up to where they should be as well as he was not doing so well when he arrived.  Thank you Palo Alto!

Day 3

Only my wife and I are allowed in to visit Nicholas, his older brother,  17 month old, Marquito, nor his grandparents will be able to meet him for quite awhile.

He is getting some much needed rest from his first surgery.  However it will not last long as they will now insert a line pick catheter through his foot and land in near his heart.  This line pick is more secure and lasts longer than the multiple IV’s he has running into his umbilical cord.  The procedure is quick and there are no complications.  He will now receive his nutrients, electrolytes, lipids etc. through here.  They are doing a lot of lab work on him and the Genetics team does their first visual observation of the little guy.  They will do the  appropriate tests to confirm he has Apert Syndrome or whatever else it may be.  

They gave my wife and I a snapshot of what may lie ahead for Nico.  Plastic surgery might be able to separate the fingers on each hand but no guarantee to what degree of functionality his hands will have.  The feet which also have his toes fused will most likely not be operated to the extent of the hands, they just want to ensure his condition does not inhibit him from walking.  Also, most importantly they reassured me that with proper surgeries rearranging the skull will give the brain the essential room to grow and develop so that he might have normal intelligence.  That was a beautiful thing to hear.