Day 1: The Diagnosis
This story starts even before Mason was conceived. Derek and I had gone through infertility testing/procedures. They had realized that we had not been tested for Cystic Fibrsois, one of many disease they test for. Looking back on the situation, I just want to slap the nurse. It was very glazed over, and it was made to sound that if we were not of Jewish descent we really had nothing to worry about (they have the highest CF rates) and took my blood. There was never anything discussed of how they test and what would happen if positive. Then we got the call that I was a carrier (I only have one mutation and you need two to have CF) and Derek had to be tested as well. We were told that if it came back positive we would need to talk to a genetic counselor, "but we really shouldn't worry because it is so rare." Could slap the nurse again. I of course got real nervous waiting for those results because r. Google had such horrific stories of what the Cystic Fibrosis is. Then we got the call that Derek was not a carrier. Phew! no need to worry about that anymore...or so we thought.
Mason was born on 8.26.10 at 3:27pm. He weighed in at 7 pounds 4ounces and 20 1/2 inches long. We had waited so long for a little one that we felt such a rush of emotion. He was our healthy little baby. All we asked for was a healthy little baby. Healthy. They came in the next day and pricked his heel to take some blood for "some required state test for some rare disease's we shouldn't worry about." or so we thought.
Looking back there are some things that really stick out that should have been signs but remember we were told there was no reason to worry. Mason had to sleep in the nursery both nights to be watched because he kept spitting up/vomiting "junk." at that time it was thought that maybe he just didn't squeeze all the amniotic fluid out of his lungs on the way out. He was even suctioned a few times in the nursery. Sign number two was his lack of weight gain. He of course had lost a little as all babies do by the time they leave the hospital, but he was not gaining it back like he should. He had weekly weight checks for the next three weeks.
Then Sept 15, I took Mason to another check up, Dr. Shallue got all serious and said that Mason needs to have a "Sweat Test" because that newborn screening came back indicative of Cystic Fibrosis. I had been so flippant with it. "oh, do we need to? We know I am a carrier but Derek is not." Well, thank goodness we had to because it is protical. So, I set the sweat test for Sept 20th and went on our merry way.
On September 20th, on the way in to Children's I called our family doctor to get an appointment because I thought he may have pink eye. So after he endured the Sweat Test we would have the results (which only could have been negative) by the time we got the family doc at 3:30pm. What happened next will forever be etched into my memory.
Mason did indeed have pink eye. Dr. Shallue seemed to try to keep her composure, I really was slightly oblivious to this. But then I asked "did you get the results back from Children's?" She looked down, then looked up at me, put her hand on my arm as I hold Mason and said "It's positive ,Sara." I lost it. "What?" "How?" "Derek is not a carrier?" All I could think of was what I had read online and it was ALL bad...he was only going to live into his 20's. Dr. Shalllue was so very comforting and going over the results (which could not be botched). As I was bawling and shaking she was trying to dry her eyes as well. This is why I love her. He bedside manner is incredible. She sat with me for another 30 mins. She explained that she had spoke directly to the supervisor at Children's Cystic Fibrosis clinic and we had an appointment tomorrow at 2pm.
I felt like my world was crashing down and no one else had any idea what was happening. I pulled myself together and hurried out to the car quick to avoid locking eyes with anyone. put Mason in to the car and sat and called Derek. How do i deliver the worst news so far to Derek. I called "The test came back and it's positive for CF" is all I could sputter out at first. All I could do from then on was cry. He says that he was confused and in denial because all along we were told that it was impossible for him to have it. So again, Derek was the strong one and helped me pull myself together. Then I called my mom on the way home and asked her to pray for Mason...If we pray hard enough they would realize that the results were someone else right
The next day, I ran out of tricks to stop myself from crying. It was September 21st of all days. The day my dad and sister died on. My mom had come down to the appointment, and the ride was the quietest 35 min in a car ever. By the time we got the CF clinic I was trying to keep it together but was a visible mess. They ushered us back into an exam room. Mason got weighed and measured and we waited ...for whatever they they had to come in and tell us. That's when we met Mary Ellen. Can I say I love her. I believe her title is CF Clinical Nurse Specialist, but she is like another family member now. She was so kind in her words of which much I do not recall because all I could do was sit there in disbelief and sadness. Derek sat silent and looked royally pissed. Later on he told me that he was mad because of how they came in to the room...he felt like they were imposing a death sentence on Mason and still thought the diagnosis was wrong. We both dealt with this news in our own ways, obviously. We were there for 3 hours and honestly could not remember 50% 0f the appointment. To top it off on the way home on a rainy night we got into a little fender bender, but everyone was okay and no damage or injuries occurred.
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