Wednesday, September 19, 2012

Mitochondrial Disease Awareness Week

On October 5, 2010 our lives changed forever - Trace was diagnosed with Mitochondrial Disease.  It took us a relatively short period of time to reach this diagnosis.  For many people Mitochondrial disease can take many years to diagnose.  This ugly disease can present itself at birth, childhood or as an adult. 

I know it seems long, but here is a very short summed up version of how Trace got his diagnosis of Mitochondrial Disease. 

2 months - Trace developed reflux, he would taked hours to eat just a few ounces, and then projectile it all back out.  He would scream for hours each night. 

9 months - Trace started holding his head to one side a lot, told it was due to reflux.  Trace received his first half of the flu shot at his 9 month checkup.  A few days after the checkup Trace started jerking his arms/legs when falling asleep - we didn't think too much of it.  Trace had been meeting all of his developmental milestones through this age.

12 months - Trace received his one year vaccines and the second half of the flu shot.  Three days after the checkup he started having generalized seizures.  He had his first one hour EEG on Christmas Eve.  Trace continued to have seizures daily.  We were referred to a pediatric neurologist, the first appointment we could get was 4 months away.  Trace's development completely stopped.

13-15 months - During this waiting period to see the neuro I kept a daily journal of Trace's activities.  Logged everything he ate, drank, meds, bm's, and all seizures.  Trace is still taking a bottle due to the fact he refuses solid foods most of the time.  Trace looses speech development.

16 months - Trace had his first visit with the pediatric neurologist.  Trace was not having a good day and had around 50 or more seizures during the course of the day.  Trace had his 2nd one hour EEG with abnormal results.

17 months - He had his first 23 hour EEG.  He is still not developing.  He has ataxia, extremely loose joints, is not responsive a lot of the time.  He experiences constipation or diarrhea daily. 

19 months - Trace had his hearing tested due to lack of speech and balance problems - normal results.

20 months - First MRI.  It showed no evidence of strokes or anything else glaring as the reason for seizures.  Trace was put on Trileptal to help get seizures under control.  We were told we may never know the cause or what type of seizures Trace experiences. 

21 months - Trace stared receiving speech, physical and occupational therapy to help his development.  He had his first eye exam with good results.

22 months - Trileptal no help and Trace's seizures become more violent.  05 Oct 2009 Trace was admitted to the hospital's Epilepsy Monitoring Unit for a 3 day EEG.  During this stay he was poked 16 times for numerous genetic tests & other labs, had two IVs placed,  MRI, MEG, and not to mention all the leads glued to his head for 72 hours.  We met Trace's  epileptologist Dr. V during this stay.  She visited Trace a couple times per day to check on him.  I felt so bad for my baby during this stay.  He had too many seizures to count.  We left with a diagnosis of Myoclonic Epilepsy.  We were sad he had epilepsy, but happy we had a diagnosis.  I felt I could fix him now - little did I know, I will never be able to fix my baby.

24 months - Trace started walking - gait was still wide, not always steady, but he could do a few steps alone.  It was a huge milestone!  He was also taken off the bottle at this time.

26 months - First appointment with his peidatric orthopedic to discuss the use of leg braces.  Since Trace couldn't yet perform tasks on command, Dr. Y wants to evaluate again in 6 months.  Trace did eventually end up with Ankle Foot Orthotics - they were no help.

27 months - Visit with Dr. V to discuss some labs.  Due to high pyruvate, extremely high lactic acid (27), myoclonic epilepsy, developmental delay, GI dysmotility, and hyperextensibility she told us Trace could possibly have Mitochondrial Disease.  This was the first time I had ever heard the words Mitochondrial Disease.  My first question - "Is there a cure?"  Her answer - "No."  We were referred to Dr. K to discuss Mito further.  This was now the second most devastating day of my life.  The first being the day he started experiencing seizures.  But this will all be trumped by the news we receive on October 5, 2010.

29 months - We met Dr. K and dicussed the possiblity of Trace having Mito, future medical testing, sleep issues and a lot of other things.  She ordered a Brainstem Auditory Evoken Potentials test, Sleep Study, Muscle Biopsy, and other genetic tests and labs. 

30-34 months - Too many tests, new specialists and new issues to write.  Still having seizures.  Development is at 12-18 months.

October 5, 2010 Trace is diagnosed with Mitochondrial Disease.  

Please educate yourself & help spread awareness of Mitochondrial Disease - for this little guy's future and all others affected by this devastating disease.  They need a CURE!!

My HERO, Forever & Always

Hope, Love, Courage &Faith,


  1. These precious kiddos have been through so much. Thanks for sharing Trace's story.

  2. My son has mito and all the ladies in my family he is the most effected though my mother is almost completely blind with retinosa pigmentosa(RP) I have it to we are told it comes from mito we have less symptoms than my son who is four now he was born at 32 weeks weighing only 4lbs 6ounces. He cannot walk unassisted or talk the doctors put his development severely delayed but he understands but cannot verbalize we teach him gestures. Everyday is a new day I am lucky I have my beautiful sarcastic smart funny Lucian because it was touch and go for awhile. We spent the first three months in the hospital. He goes to school and I thought they might steal him they love him.