Jon & Christian's Story

In 1975 my youngest son Jon, at 11 months old almost died. He had a cold and was just “not himself,” even quieter and more complacent than usual. I had called our pediatrician on Thursday and was unable to have Jon seen. The next morning he was crying inconsolably (VERY unlike him), and refusing formula or food. I rushed him to Tri-City Hospital in Oceanside, CA where he quickly went down hill and into a coma.

An ER nurse told me all of Jon’s vitals were off, his glucose, liver and heart. She looked at me strangely, and with anger in her voice announced that I had one very sick baby. What she was thinking I can only guess. Stunned, all I could say was…I know.

A cut down into Jon’s ankle was needed to start the glucose IV…he was unresponsive. Baffled, the ER doctors had called in Jon’s pediatrician. At first they thought it was Reye’s Syndrome and questioned whether or not I had given Jon any aspirin, which I hadn’t.

They contacted the Poison & Disease Control Center in Atlanta. Unable to get any answers, Jon was sent upstairs swaddled in nothing but green paper, with his IV, and put into an oxygen tent. I believe he was also given antibiotics at that time. I was numb with shock and fear—how could my baby be relatively okay one minute and dying the next? So, I prayed, and I called Jon’s paternal great-grandmother in Missouri who daily incorporated an hour of meditation and prayer into her life. We all prayed.

The doctors had said there was nothing else they could do. As he lay there in that bed, I can still see the room, I talked to him and sang to him and held his tiny little hand through the tent…hours later…I have no idea how many, my baby stirred and little-by-little awoke out of his coma.

The Doctor, when I thanked him, replied he had nothing to do with Jon’s survival. Still baffled, we were sent home a few days later without a diagnosis.

His second serious episode happened in Springfield, MO. Jon was hospitalized but responded fairly quickly to IV support. The doctors said he was just hypoglycemic and to continue treating him as I had been, basically with a diabetic diet.

Still, no real answers. Future pediatricians, this time in Concord, CA, looked at me skeptically, and after further testing laughingly told me there was nothing wrong with my son!

He had other small episodes which I was able to handle at home with sugar. His energy seemed to deplete quickly at times, and as coordinated and athletic as he was he did seem to stumble a bit, especially on a hot day. I quickly found that cranky attitudes (especially after naps and upon arising) would most often be quelled with carbos, especially juice.

My son did thrive, his mysterious brush with death, still an unanswered question.

Jon became the proud father of Nicholas in 1995, and of his second son Christian in 1998. Of the two children, we all thought Nick was to be the more extroverted of the two, out-going and very social. Christian, while bright and sunny, a happy little guy, was much more laid back.

One day while in his infant seat, sitting on our patio table, I looked upon him and noticed the same dreamy look in his eyes his daddy had as an infant. Flashing back to Jon’s first episode, I told myself I was crazy to think any such thing could happen again, and that I was just being overly responsive to my memories.

At the end of February, 1999, the nightmare replayed itself practically down to the detail, only this time it was my infant grandson, Christian, who was fighting for his life at Children’s Hospital in San Diego. The sight of my beloved grandson just lying there, so still, seeming to fight for every breath: seven IV tubes, heart monitor, a main line, oxygen…it was all too much to bear again.

My heart would break all over again as I saw the grief and fear in my son and daughter-in law, a fear I knew all too well. Caring for Christian’s older brother was one of my greatest tests…looking upon Nick’s beautiful face…he was troubled knowing all was not well with his brother. I would need to take myself to the garage to weep and compose myself. Thank God for my husband and mother…for they took care of Nick and me.

And There For The Grace Of God Go I…we are lucky, we are thankful. A simple test could have prevented so much unnecessary suffering. Financially, even with good insurance, this hit Jon and Chrissy like a ton of bricks. At this point I am going to ask my daughter-in-law to finish up. I believe, she may have already started or even submitted our story.

In the end, I kept insisting Jon relay the extraordinary coincidence between his episode and Christian’s, in fact I also did upon one of my visits to the hospital. The doctors seemed a bit indifferent and seemed to shrug the coincidence off. My daughter-in (Chrissy)-law’s mother Maretta Clauson, is the person who really got the ball rolling.

She is the bio lab supervisor at UCSD in San Diego, and in relaying the story of one of the doctors at UCSD, who happened to be a metabolic specialist, specific testing was begun for inherited metabolic disorders.

Christian and Jon are both on Carnitor and doing terrific!

Kathryn Knieff Bostick Sumek

Son, Jon - MCAD

Grandson, Christian - MCAD

kdkbs@aol.com

2009 Update by Jon

Alot has happened since my mom wrote the above story. I had a brain aneurysm clipped October 6, 2008. I am very fortunate that they caught the aneurysm when they did. The wall of the aneurysm was very thin and could have potentially ruptured at any time.

I am managing Christian’s little league team and have Joshua and Nick playing baseball as well. So Chrissy and I have been pretty busy. Everyone is doing pretty well. The kids are active with sports. Since (my mom’s version of our story) we have had a girl, Kylie,4-yrs-old, as well. She is a carrier of the gene along with our oldest Nick, 13-yrs-old.

Christian, now 11-yrs-old, and Josh, 7-yrs-old, are both affected by MCAD. We try not to let the MCAD get in the way of their activities. We just monitor Christian and Josh closely. It seems to get easier to manage as they get older because they  learn to recognize when they think they are starting to get into trouble or just don’t feel right. We’ll write more at a later date.