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!!
We had a fabulous weekend at the beach. It was kind of a spur of the moment trip as it wasn't even planned until 5 days before. I still can't believe we actually did it. But we did and it turned out to be some amazing & much needed family time!
Friday - After a lovely battle with traffic, we arrived at San Luis Resort about 7:00 PM. The place was beautiful!
View from our 16th floor balcony
Trace was excited to ride the elevator as usual. He overlooked the balcony at the spash spash and was excited. We opted to not take him swimming as it was already past his bedtime and didn't want to ruin anything for Saturday. So room service for dinner, birthday flowers for me from my sweet hubby, and hanging on the balcony enjoying the view.
Nightime pool view
Rainforest Cafe Volcano Erupting
Saturday - We headed down to the pool about 9:00 AM. They had a waterslide, which Thomas took Trace down at least 15 times. The child could have done it about 15 more, but Daddy was worn out :-)
So we all headed across the street to the beach for about 30 minutes. Trace loved the waves! He pretended to jump them and laughed so hard he could barely stand.
Next we headed back up to the room to clean up and have lunch at Rainforest Cafe. I wasn't sure how Trace would do for this. He usually hates being in restaurants - maybe the loud crowded environment, maybe the fact he could care less about eating, maybe all the above. Well he did great and loved everything except the monkeys. Good thing we chose not to sit by the gorillas :-) Thanks big Sis for that advice! We all enjoyed our food and then rode the river ride. It was a really neat ride and we all enjoyed it- with the exception of the monkeys who received a very loud NO! everytime we passed.
Rainforest Cafe River Ride
After lunch we headed to tour the Bishop's Palace (yes we're pushing it a little with Trace). It was beautiful and Thomas and Peyton really enjoyed it. I had seen it as a child on family vacays. Trace did good and we managed to get out of there with not one thing broken or one screaming fit!
Peyton at Bishop's Palace
We drove down the strand since it was so close. It was pretty hot, so we parked and made only one stop - LaKings Confectionary. Good choice - Peyton loves Ice Cream which they had aplenty and Trace was in awe at all the chocolate. We bought a few pieces of chocolate, ordered some chocolate malts and rootbeer floats, then the meltdown happened - no, not the ice cream. I took Trace out, but that only made it worse. So back in we went and he was able to show me what he wanted, thank goodness. They had one of the machines where you smash the penny and all he wanted to do was turn the crank. Wish he could have just told me that before all the screaming and crying. So with goodies in hand, we headed back to the hotel where Trace & I napped and Daddy & Peyton hung by the pool. Really pushing our luck, we went to Gaido's for an early dinner at 5:30. Okay I'll admit I was scared we had hit Trace's threshold, but Thomas managed to get down his last bite of food without rushing before having to take Trace out of the restaurant. Peyton and I enjoyed the rest of our amazing dinner and back to hotel we went for more spash spash. Then some much needed nigh, nigh for the little guy and more balcony time for the rest of us.
Sunday - One more quick trip to the pool, which was surprisingly warm. Then another across the street to the beach, not so warm. A cool front pushed through late Saturday night. Trace was cold and blue, but didn't seem to mind at all. We didn't let him stay in for more than 5 minutes and we all headed up to shower and pack up to leave :-( I all of a sudden started feeling sick. Not such a pleasant ride home to say the least. Finally made it home and to bed I went. Thomas made me chicken noodle soup and I was feeling much better by evening. I was so happy I didn't get sick on Saturday though. Peyton had it on Tuesday and so far so good with Trace and Daddy.
So that was it for our spur of the moment family trip. It was amazing to get to spend so much quality time together! We are already looking forward to going back!
I’m excited to announce the 2nd Annual Wehring/Schaper Invitational Golf Tournament benefiting the UT Mitochondrial Center of Excellence!!
The tournament is held in honor of my son Trace and his best buddy Hudson Schaper, who battle mitochondrial disease.These two little boys are true Warriors!
Trace & Hudson receive care from the UT Mitochondrial Center of Excellence.They provide comprehensive services to aid in the diagnosis and management of mitochondrial disease.The UT Mito Center performs research in the field of mitochondrial disease, investigating novel treatment approaches to this devastating disease.I have a profound love for this team who works to give my son, and all affected, the best quality of life.They are compassionate & brilliant!For more information, please visit www.utmito.org.
Every 30 minutes, a child will be born who will develop a mitochondrial disease by the age of 10.We all have mitochondria – they exist in nearly every cell in the human body.They generate 90% of the energy the body needs.Mitochondrial disease occurs when mitochondria fail.The affected individual may have any combination of symptoms including strokes, seizures, gastrointestinal problems, swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems and liver disease.The symptoms range from mild to severe for each affected person.There is NO CURE for Mito – but there is HOPE.
For more information about registering your team or becoming a sponsor please email me or comment below.Again, THANK YOU for helping Trace get closer to a cure!
We are inspired by your love & friendship, by your concern & support, and by your participation in helping raise awareness & research funding for mitochondrial disease.