MCAD: Medium Chain acyl CoA Dehydrogenase – Information for Families
Charles R. Roe, MD

Medium chain acyl CoA dehydrogenase deficiency, or ‘MCAD,’ is a disorder in which your body is unable to breakdown fats to make energy. Normally, fat is broken down into energy by “enzymes.” This energy keeps your body running whenever it runs out of its main source of energy, a sugar called ‘glucose.’ In MCAD, a very important enzyme for breaking down fat, the medium chain acyl CoA dehydrogenase enzyme (MCAD) is missing or does not work correctly. This means that people with MCAD can’t break down fat for energy when they run out of glucose.

The easiest way to respond is this: This is our youngest little cowpoke:

I remember the moment she was born.  I kept telling people that I thought she smelled a bit funny.  I couldn’t explain exactly what she smelled like, but I knew it just wasn’t the “same” as my other six children. 

One thing about our baby, she could eat and eat AND EAT!  But she wasn’t overweight.  She would even wake up in the middle of the night hungry, so… I would feel her.  Countless friends wouuld tell me I should just let her fuss a bit and then fall back asleep, but that just didn’t sound or feel right to me.

Thank God I listened to my inner “mommy,” and not the “experts!”  When she was 2 and a half years old, I finally had a doctor listen to me about her smells.  She wasn’t very verbal, and hardly liked anyone to touch her, so they told me she had autism.  I thought that might be true, but I asked for further testing.

Low and behold, they did blood test and were shocked to find out she had M.C.A.D. If I had put her to bed and not feed her, she would have experienced low blood sugar, possible coma and death.  Most children diagnosed with M.C.A.D. are diagnosed during an autopsy!!!  I was so stunned, but then again validated for my concern.  As soon as she started her medication for M.C.A.D., she began talking and responding like an average 3 year old. 

We still have some sensory issues which now are being associated with the autism spectrum, but that’s not too scary.  At least she’s here with us, breathing and laughing through life.

I just want to encourage all parents to follow your instincts and never let other’s persuade your inner light.  God bless, peace, love and music

Michelle

Through diagnosis of diseases I’ve never heard of (M.C.A.D.), to the dreaded “autism”, we have persevered with our faith and love. I hope this blog encourages at least one person to NEVER give up on your dreams.
sincerely,
Michelle