A March 2002 account on the Save Babies Through Screening Foundation web site told the tragic story of MM.  Just before her second birthday she became ill:

M had been sleeping for several hours and when I went to check on her she wouldn’t wake up.

At the Hospital they checked her blood and told us she had “severe low blood sugar”. When they started the IV she seemed to respond. She sat up and played with me, but it wasn’t for long ... The doctors couldn’t seem to keep her blood sugar up and she soon slipped into a coma. M stayed in that coma in ICU for 5 days ...

Our many prayers were answered when M began to respond and just as quickly as she seemed to fall ill, now she seemed to be doing fine. When they released her from the hospital they told us “it was probably a fluke”.

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together. 

Even based on this skimpy history, MCAD is by far the leading diagnosis.  Unfortunately MCAD had been described in the medical literature only several years previously and the diagnosis was not made when M was 2 years old. 

When M was 20 she decided to go camping with some friends ...  She first became ill on Sunday morning at about 5:00am...  It was about 8:00pm that they first took her to a hospital ... When they opened the doors she seemed fine. The doctors wanted to keep an eye on her just to be on the safe side and moved her to Observation at about 7:00am on Monday. She passed away approximately 3 hours later.

Our answer finally came 14 months after her death from the attending physician who took care of her in Observation. It was as if he was almost as disturbed by her untimely death as we were. We were told M’s illness when she was two and her death were most probably related. She had died of M.C.A.D. (Medium Chain ACYL-CoA Dehydrogenase) Deficiency.

M would have been alive today, had she known that on the day she climbed that mountain with her friends that she needed to keep her sugar level up. Her “perfectly normal healthy” status worked against her. Our family is a painful sad reminder that these screenings don’t have to be limited to newborns.

The Save Babies Through Screening Foundation has more family stories here.

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If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.