Our Journey Raising Two Children with Special Needs

This blog chronicles our life raising two children, Nicholas 14, diagnosed with Prader-Willi Syndrome and Weston 17, diagnosed with Autism/Asperger's/ADHD. It's the ups, the downs, the joys, the sorrows and most importantly, the beauty of living a life less perfect, a life more meaningful.




Wednesday, June 20, 2012

Nicholas's Arrival and our Introduction to Prader-Willi Syndrome, Part I

One of my readers asked me how Nicholas was first diagnosed with Prader Willi Syndrome?

It was a simple, straight forward question, but it stopped me in my tracks.  I seemed to awake from a deep slumber.  I had not thought about that day in a long time. It was as if this deep sleep was some sort of self-induced coma, designed to protect my fragile heart from remembering the painful days of Nicholas's birth.

Her question made me realize that I have not shared this story with you. I wondered if there was a reason for this?

For the next week, I reflected on Nicholas's birth experience.

The painful memory was buried deep within my soul. Inside my mind, I struggled to rewind the images. Again I wondered why?

Why had I refused to think, talk or write about the day Nicholas was born? In fact, every time an image of Nicholas's birth appears in my mind, instinctively, I shut it down, refusing to feel that familiar suffocating pain.  I asked my husband Pete if he ever thinks about the day Nicholas was born?

"Are you kidding, I think about it alot, don't you?" he asked.

"Actually, no." I said, "I try not to think about it."

"I guess I need to think about that pain, to help remind me of why I fight these special needs battles every day." Pete explained.

"I guess I need to shut down that pain, so I can maintain my strength to fight the battles," I answered.

I found it very interesting that although we are both truly invested in the care of our youngest son, we both processed the experience of becoming a special needs parent much differently. I can't help but think that Pete's experience is somehow healthier.

In an effort to free myself of these painful memories and maintain a healthier heart, I would like to share the story of Nicholas's birth with you.

Thanks for listening....

I was 41, when I finally became pregnant with my second child. We had been trying for over a year.

I knew that my risk for having a child born with a birth defect was increased because of my age, but still I was ready for whatever God intended, or at least that's what I told myself.

At week 15 of my pregnancy, my ob/gyn suggested we perform an amniocentesis. I told her that if my child was born with a defect, I would not be aborting the child. I told her that I would however, like to know so that I could mentally prepare for such a situation. My doctor agreed so an amnio was performed.

The test was a success, with no trauma to either the baby or me. Within a few weeks we received the results and the happy news. The baby was a boy and there was no evidence of any birth defects.

Pete and I were thrilled.

I believed, incorrectly at the time, that an amniocentesis checked for all birth defects and chromosomal abnormalities. I was happy and felt like we had dodged that "advanced maternal age" bullet.

I was wrong.

I wouldn't know it for another 5 months.

As my pregnancy progressed, I noticed I was not gaining much weight. This was unusual, since I gained 30 pounds when I was pregnant with Weston. My physician was not concerned but she scheduled an ultra sound just to be safe. Once again, everything looked fine.

Later, I had a blood test performed which indicated my blood sugar was elevated. So, my physician scheduled a blood glucose test. And again, the results came back normal.

Despite getting a flu shot, at about 20 weeks, I developed a severe respiratory infection. The coughing was so severe, I took some cough medicine, checking with my doctor first to ensure that she approved. After taking just two doses, I decided it was best to fight this flu without medication. So, I dropped the cough medicine and fought out the infection on my own. It took several weeks to recover.

Looking back now, I wonder if this emerging fighting spirit within me was some kind of foreshadow of things to come?

As my pregnancy continued, I gained only 10 pounds. Nicholas was an active baby and got the hiccups often. I also suffered from Braxton Hicks contractions throughout my nine months. But as my pregnancy advanced, nothing seemed unusual.

At 38 weeks, Nicholas was still in the breech position. My doctor suggested that I deliver the baby via C-section and ordered another ultra sound.

This time, the results were not like the others. The technician seemed concerned. She told us to wait while she had a doctor come take a look. After several anxious moments, a physician came in and told me I had an elevated amount of amniotic fluid but this was not something we should be concerned about.

Phew, I thought, and once again I was assured, all was well.

On January 18, 2002, Pete and I arrived at a local hospital for the scheduled C-section birth of our second son.

We were informed that there were no rooms available.

"What," Pete asked incredulously. "This is a scheduled procedure, how could there be no rooms?"

The staff explained that the family who was scheduled to leave that morning had not vacated the room. Did we mind prepping for the procedure in another area?

What could we say, we were anxious for the birth of our child.

"Was it a private area?" I asked.

"Yes," I was assured. 

I reluctantly agreed. Interestingly enough, I immediately began to feel my first real contractions. It seemed at least to me, that Nicholas was as anxious as I was to begin this process.

I was brought to a storage room that was attached to the operating room.

That's right, a storage room.

Inside the room were lots of shelves and boxes of medical supplies. A section of the room was cleared where a bed was neatly made and waiting for my arrival.

"OMG, this is a first," I thought to myself but figured it would make an interesting anecdote to share with others about Nick's birth.

Pete was concerned.

"Are you sure this is OK?" he asked me. "We can reschedule this so that you are more comfortable."

"No," I said, 'I just want to see my baby."

I changed my clothes in the bathroom and settled in to my new storage room home.

Once again in looking back, it was almost as if it was important for us to accept this difficult situation with a positive and resilient attitude.

Sandy was the nurse assigned to my care. She was funny, bright, warm and sarcastic. She made us laugh about our unusual predicament. She completed my prep work quickly and effortlessly, keeping my time in the storage room short. When she was done, she asked me to bid farewell to my lovely accommodations as she wheeled me into the operating room.

Our pediatrician was not available so the head of the hospital's pediatric division was preparing for Nick's arrival. Also in the room... my ob/gyn. several nurses and the anesthesiologist. Everyone seemed happy and talkative. The nurses sounded like chirping birds as they shared the days events with each other and anxiously awaited Nick's arrival.

The anaesthesiologist strapped my right arm to a board that was in front of him so he could monitor my IV and meds. My other arm was strapped to my side. I told him to be alert as I had the dry heaves throughout the birth of my first child. He told me not to worry.

We were ready.

My ob/gyn began  her first incision,

And as she did, I heaved.

Quickly, the anesthesiologist placed a mask over my face. The smell of harsh chemical almost gaged me. He told me to close my nose and breathe through my mouth.

"Oh yeah," I said, "Why didn't I think of that." I settled down and tried to breathe through my mouth, the nausea subsided.

Within what seemed like minutes, the doctor was done and Nicholas had arrived into the world.

She held him up over the sheet that had been blocking my view so I could see his precious face. I remember thinking that he looked so very beautiful. He looked healthy and pink. His head and facial features were all perfectly formed. But there was something else about him.....he seemed almost peaceful, his quiet presence comforted me. His serene spirit was that of a very old soul. For a brief moment, I was speechless, the vision of his precious face engraved itself in my mind. His relaxed energy soothed me. It is a moment I will never forget.

The nurse took Nicholas from the doctor and away from my view.

He was not crying.

The nurses flew instantly into action and finally  I heard a tiny cry as Nicholas took his first few breaths. He quieted quickly and I thought how different he was from Weston who screamed bloody murder when he was first born and then proceeded to pee on the doctor.

The nurses hurried to clean and dress Nicholas. The light, chirpy conversation had stopped, the room seemed unusually quiet.

Something was wrong.

"Where was my baby?" I asked, my arms still strapped to the table.

There was no response from the staff pediatrician. Instead, she picked up my naked son and carried him toward me and Pete. As she approached, she thrust his genitals toward my face and told me to look at his penis.

"I am not sure if this baby is a girl or a boy," she said.

I looked at my beautiful new born son. His penis looked somewhat small, (a common characteristic for boys born with Prader Willi Syndrome.) His testicles had not descended. (another PWS marker.)

"I do not know about you Ma'am, but that looks like a penis to me," I snapped and reminded her of our medical history when my husband was also born with undescended testicles.

She ignored me.

"He may also have female reproductive organs. I would like to perform an ultra sound."

"You do that!" I snapped once again, certain in my mind that this woman was a sadist.

At this point, I am still strapped to the table and have not held my son.

Pete and I stare at each other in disbelief.

"What do I tell your family?" he asked softly.

"You tell them we have a new baby boy!" I answered quickly.

As I am wheeled out of the OR, Sandy, our kind nurse, whisks Nicholas away from the aloof doctor and hands my precious child to me.

"You deserve to hold your beautiful new baby," she says compassionately

Her kind words touch me and I begin to cry.



OK, I need a break.....more later when I recover some strength.

Stay tuned for:  Part II: The Trip to Children's Hospital