Newborn Screening Family Stories

Jonathan's Story (Unclassified FOD)

I am writing to you today to share my story with you regarding my son Jonathan's pre-diagnosis of an Unclassified FOD (we are still in the process of specifying which disorder). It was Tuesday, December 19, 2000. The day started out like any other day in our house. I had just finished dressing my 8-year old twins for school when I scooped up my then 20-month-old son, Jonathan, from my bed where he lay sleeping (he had always been a "terrible" sleeper so he always ended up in bed with me). We went downstairs and I placed Jonathan on his back on the couch while I prepared the twins for school. While they were eating breakfast, I checked on Jonathan. I said "Good Morning" and got no response. I looked closer.his eyes were wide open but he was not moving and his face was a blue and yellowish color.

I immediately picked him up and his little body immediately went limp in my arms. I called 911 and then, thinking he might be choking, tried to scoop out his throat with my finger. He then clenched down so hard that I could not remove my finger from his mouth. I know it was probably only minutes, but it seemed like an eternity until the paramedics arrived. During this time my daughter was screaming "He's Dead" and I tried to reassure her he was going to be fine, when I honestly did not know if that was true.

My son asked me what he could do, and I told him to take his sister and go in the corner and pray very hard...that was all we could do. When the first paramedic arrived I ran out to the driveway to meet him. He immediately intubated Jonathan and brought him inside. Then two more ambulances arrived and hovered over my baby on my kitchen floor. They were getting no response. They could not find a vein to run an IV, so they had to puncture the bone marrow in his little leg to run the line. I thank God every day that they were trained to do that procedure. After calling my husband (who was at work an hour away) and my parents, I then left my other two children in the care of volunteer firemen until my father arrived.

Jonathan had a stomach virus the day before which gave him severe diarrhea. Although, from past experience, I "knew" that as long as he was drinking fluids (including pedialyte), had wet diapers and was crying tears that he was not dehydrated, I was still planning to take him to the pediatrician once I had gotten the twins off to school. Well, as you no know, I never got that opportunity. We ended up in the emergency room instead. Upon arriving to the hospital, I was met by my mother and my parish priest (whom I had called, but through various prayer lines was already aware of what was going on and had already been praying for Jonathan at the morning mass). My husband then arrived, only to see a team of doctors hovered over Jonathan and then he saw our priest. He did not know what to think ~ he broke down. I wanted to reassure him everything was all right, but again, I didn't know for sure.

About 45 minutes past until we were able to see Jonathan. He was very weak, but he was alive. He turned to us and said "dad." We both started crying. Upon admission to the hospital, we still had no answers, except that Jonathan had been in a hypoglycemic coma. We had been told of a possible carnitine deficiency and were referred to a genetics specialist. When Jonathan was released it was two weeks until we saw the specialist.

I have to say, the one thing I was always sure of was how to care for my children.now all of that confidence was gone. I did not want to be left alone with Jonathan for fear that this would happen again without warning. Well, on the first visit with the specialist, he told us he believed he possibly had LCHAD and wanted to run a series of tests. He had us start giving him cornstarch that very same night. I was still so confused. Upon reading a Good Housekeeping article about newborn screening, I was so angry to learn that Jonathan could have been tested for this at birth.

I immediately called my brother, David Cappiello, a Connecticut State Senator, and asked him to propose legislation regarding newborn screening. He did. The bill just passed through the Public Health Committee unanimously and is now going on to the next phase. I am so excited that I, along with my brother, may be able to spare someone the pain and trauma that my family has had to endure these past few months. My twins still have nightmares.

In hindsight, a lot of things in Jonathan's first year of life make sense. He was delivered by emergency C-section two and a half weeks early because every time I had a contraction, his heart rate dropped dramatically. I was breastfeeding him, and it seemed that he was insatiable ~ he was always hungry. He nursed in the middle of the night until 15 months (I nursed him until 18 months). Everyone said he was spoiled, but I used my instincts ~ Thank God for that. He knew what he needed all along.

Then at one year he was tested for sleep apnea. He then got a virus that caused him to give up any solids he had begun eating and revert to nursing every two hours, sleeping constantly and thrashing about in pain in between. The doctors could not figure out what was wrong, even with a series of blood tests. They now believe he was having seizures.

I still get angry thinking about what he has had to endure unnecessarily. He has had numerous blood tests, an EEG, an echocardiogram and a skin biopsy. We are still awaiting the results of the biopsy, but the specialist is certain it is an FOD. We are also waiting for results of tests run on my other two children.

I believe that Jonathan was saved for a reason. That reason is to get a law passed in Connecticut to have all babies screened at birth. God used us as a facilitator. I pray His plan works.

Pamela J. Sweeney ~ mother of Jonathan
Newtown, CT
pjcap3@charter.net