Our son Keagan was born healthy and happy at 37 weeks on November 21, 2006 at 5 lbs., 12 oz, 18 inches long. He was perfect and came home 24 hours later. He was completely different from his brother Sebastian and was sleeping a lot, gaining weight, and was doing really well.

When Keagan was about 6 months old, he stopped gaining weight, and he had very bad reflux.  At 9 months old, in August of 2007, he had a nasal feeding tube placed and weighed only 11 lbs., 8 oz. His physicians determined that his liver enzymes were high and so were his lactic acid levels. After running tests, his geneticist concluded Keagan had 3-Methylglutaconic acid in his blood and diagnosed him with a metabolic genetic disorder.

In September 2007, Keagan went back to the hospital for a fundoplication and a g-tube placement. During the surgery he mysteriously coded yet the physician team was able to bring him back to life.  Afterwards, they discovered that he needed a blood transfusion and other than that he was fine, so we took him home.

We started to see his geneticist, and found out in November that he had Mitochondrial defect with Methylglutaconic Aciduria.  They were not able to tell us much about what problems he would have, or if they would ever be able to isolate the gene causing the problem. There isn’t testing for what they were looking for and the testing is so expensive that medical insurance does not cover it. We were warned that it could take several months to investigate, and we could wind up with no answers at the end.  He was doing great, smiled, and laughed. He was able to stand by holding on to stuff and he could sit up.  Everything seemed okay.

On January 8th, 2008, Keagan was doing fine. He sounded like he might be coming down with a cold; however, he wasn’t running a fever or acting too differently from normal. My husband came home, and around 6:00 P.M. he fed him and put him down to sleep.

Keagan woke up around 8:00 and was having problems breathing, and his lips were blue. So, I rushed him to the hospital where they discovered that his blood sugar was 700. This was odd for him, because with his type of disorder the blood sugar is usually low. They put him on a respirator, and that was the last time I saw my baby awake.  Keagan’s heart stopped when they were inserting the breathing tube. They were able to resuscitate him; however, from that point on everything started to shut down.

Due to total organ failure because of complications of his Mitochondrial disease, Keagan passed away around 9:20 January 9th 2008.

Crystal Fife
Ontario, Canada

2 thoughts on “Mitochondrial defect with Methylglutaconic Aciduria – Organ Failure Takes My Baby Boy Keagan”

  1. Marianne Vennitti says:

    I am so sorry for your loss and all the pain and suffering you have been through. I also have a rare disease and I am a strong advocate and will let YOUR voice be heard.

    Blessings,
    Marianne Vennitti
    Cryoglobulinemia Vasculitis Organization
    Assistant Director

  2. Katy Day says:

    Crystal,

    I had no idea that this had happened before and I an so sorry for you and your familys loss. I love you and you will be in my prayers.

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