Five days after Sarah was born, I took her to her first pediatrician's appointment. The pediatrician that was assigned to me at the hospital was not available to meet within the time frame expected by the hospital. So when I called the pediatrician's office the receptionist said there was another doctor available and proceeded to list many appointment times throughout the day. I agreed to meet with that doctor, somewhat curious why he didn't have many patients scheduled and wondered if that meant he wasn't the greatest doctor to be meeting with.Jon was at work so my friend Kerry came with me to help make sure I didn't drop Sarah or anything. Seriously though, I really didn't know what to expect with maneuvering a diaper bag and car seat and child etc. and Kerry was my support system for that.
We seemed to wait longer than others that arrived after us, but I was trying to fill out paperwork so I didn't think much of it but I was aware. We were called back and the nurse weighed and measured Sarah and we waited for the doctor.
When the doctor entered the room. He was a Sri Lankan man with a very expressive friendly face. He looked over Sarah and then informed me that the state had called and was basically yelling at the receptionist and himself because they had not informed them on the status of Sarah. The doctor was confused because he didn't know whom they were talking about and then realized that we were sitting in the waiting room while he was on the phone. Sarah's newborn screening blood test had flagged her as possibly having one of two genetic deficiencies, carnitine palmitoyltransferase (CPT) II deficiency or carnitine-acylcarnitine translocase deficiency. The doctor said that it was such a specialized medical area that he could not explain what those meant but that he would get us in touch with the a metabolic clinic so we could figure out what, if anything, was the matter with Sarah.
Throughout this whole experience the doctor handled it with encouragement and appropriate humor. He reassured me that everything he saw showed that Sarah was thriving and she had gained more weight since leaving the hospital. He said that while all the news he had just given me was a lot to handle, the important thing was that, based on observation, Sarah showed no signs to be worried about and so I should just enjoy my baby until I heard more information.
I had not expected this appointment to take as long as it was, so Kerry's husband had to
come pick her up so she could go to school. The doctor allowed me to wait in one of the examination rooms with Sarah as I waited for him to make copies of all the information he had been faxed and as he figured out what our next steps were to follow up on the information provided by the Newborn Screening. I called my in-laws and informed them of what was happening and they came to join me at the doctor's office. I called my dad and had him Google the names of of the two possible disorders and he read me the information he found. I was on the phone looking down at my precious baby as my father described symptoms and informed me that these disorders are extremely rare. It was during this time, I allowed myself to grieve over the news and the possibility of what might come. I was reminded of my prayers during my pregnancy. I had prayed for Sarah and that we might love her and have the strength to handle the child that God gave us. I had given her over to God many times before she was born. I was realizing the depth of what my prayers meant.
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