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,

Laurie

 



Fun at the Beach

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!

Hope, Love, Courage &Faith,

Laurie

 

"Putt" an End to Mito

“Putt” an End to Mito

October 26, 2012

Stephen F. Austin Country Club

San Felipe TX

I’m excited to announce the 2^nd 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.

 Mitochondrial Disease

     Awareness Week

September 16-22, 2012

Hope, Love, Courage &Faith,

Laurie

Special Needs Equipment

Last week at Trace's doctor appointment it was discussed that he needs a medical stroller and bigger bed.  Trace has officially grown out of his baby stroller and crib.  Shocker I know since he is almost 5 years old.  I'm happy to see that they have lasted this long!  It's just not safe for him to be in either anymore.  I will be honest and admit I knew it was coming, but was putting it off as long as possible.  I've always thought if I put if off just a little longer Trace will be able to get himself around good & learn to sleep in a normal bed.  It's the part of me that yearns for my little boy to have a normal life. 

The medical stroller must last for 5 years.  You just don't get to decide you don't like it and go out and buy another.  Well I guess you could if you had a few thousand $$ to throw around.  This means I have to think about what may be 5 years from now.  That's scary.  The fact is he may need extra equipment by then and the stroller must be one to accomodate those needs and grow with him. 

The decision on which bed to pick is easier.  The Sleep Safe Bed seems to be our best option.  It will safely contain him, is equipped so oxygen use is not a problem and doesn't look like an animal cage.  Our biggest decision with this is where to put it.  As of now, his crib is still in our bedroom.  It's just the easiest option, as Trace wakes up at least 3 times a night.  I don't think the bed will fit comfortably in our room.  So we have 2 options:  (1) move Trace to his room or (2) add on to our bedroom.  I'm going to move him to his own room as it's the most sensible/easiest option.  I know it will be hard for me as I'll be walking up and down the house several times a night.  Sounds lazy, but I already know how hard it is with him in my room - especially on those nights he's up 7 times! 

I pray all of this works out and I make the right decisions.
 

Hope, Love, Courage &Faith,

Laurie

 

Happy Anniversary

Today marks 6 years of being married to my wonderful husband Thomas.  I remember standing on the beach in Cabo San Lucas like it was yesterday.  It was the most amazing day!  Really, it was a dream come true.  I will sum up the last 6 years with these few words - love, learning, patience, laughter, joy, heartache, hugs, tears, excitement, change, and triumph.  Our life hasn't exactly turned out like what we imagined that day on the beach, but together we've made it through it all.  Thanks for standing by my side through this journey.  I love you Babe!  Wishing us many more years together!! 

  

Hope, Love, Courage &Faith,

Laurie

EEG Results

I finally received Trace's results from the video EEG done June 18-19.  His neurologist's conclusion is: Abnormal due to generalized myoclonic seizures in sleep; otherwise the background activity is normal with no interictal epileptiform abnormalities, which is an improvement compared to previous EEGs.  For someone whom she describes earlier in the report as a 4 year old boy with a history of mitochondrial disease and intractable epilepsy, I think this is great.  It shows no disease progression.  That is my fear - disease progression.  The longer we see no progression the better for our little Mister.  Of course I would love nothing more than Trace to be seizure free, but at this point that's not a reality.  Although, I still have Hope.

Trace made it through his EEG with minimal emotional damage.  He did have a very hard time while they placed all the leads.  Thankfully we had a good tech and she did it as quickly as possible and good enough to where they didn't have to replace any!  That's no fun, especially in the middle of the night.  Trace did have lots of seizures/events during his stay.  This was good because at least we were able to obtain information and not have to stay any longer.  We had great nurses in the EMU, as usual.  And best of all ... Thomas didn't drive me too crazy!  Okay, I did send him to Target 30 minutes after we were there and to the cafeteria quite often.  Believe me it saved his and my sanity :-) 

3' long stocking hat, backpack, button down "old man" pj shirt

w/ non-matching bottoms & a pacifier - only Trace could rock this look!

The Wehring family has been pretty busy the last month.  Peyton has had two weeks of cheer camps along with other cheer activities.  My little brother Mark married the love of his life Jessica on June 23rd.  It was such a beautiful wedding & a LOT of fun!  I'm so excited to have her as my sister.  I wish them a lifetime of good health & happiness.  

Waiting "patiently" while trying on about 15 pair of latex gloves - sshhh, don't tell Dr. V

Trace had a cough for about four weeks (Jun 5-July 7), which eventually required use of his inhaler to get better.  Neurology appointment June 29th - we discussed how Trace continues to make small strides with his developmental progress since the use of Onfi.  Dr. V said the developmental progress is the result of less seizures.  She believes Trace was having many seizures which were not visually detectable to me.  I felt terrible that he was going through that and was not able to tell me.  Dr. V increased his Onfi dosage again as a result (10MG AM, 10MG afternnon, 10MG evening). 

Enjoying his new toy

We spent the Fourth of July week with Thomas' family at their lake house.  It was a nice vacation and we were able to spend lots of time with our 2 yr old neice.  She's quite a hoot and loved "her buddy Nate" - that would be what she called Trace.  A visit to Trace's pediatrician July 16th due to some weird rash he acquired as a result of a viral infection.  And that raps things up around here - hope you are enjoying your summer!    

Please say a prayer tonight for all of the brave 
little warriors fighting mitochondrial disease.

Hope, Love, Courage &Faith,

Laurie

Quick Update

I just wanted to give a quick update on Trace for those who are interested and for my records.  This blog has been an amazing tool when trying to remember things when it comes to Trace's health.

All in all Trace has been doing great, no major issues or changes, so we are very happy at the Wehring house! 

Back in May we saw Trace's immunology/allergy specialist who voiced her concern over Trace's nose bleeds.  I was to stop Veramyst if they continued, I did and they're still happening.  We saw Dr. P again last week for Trace to receive his MMR.  She said give it two more weeks off Veramyst and see his ENT if it continues.  Trace had another bleed last Friday and I'm hoping it was his last.  His MMR went great - he had only one seizure and no fever!  The bad part was the visit lasted 4 hours, Trace had to endure a painful shot, and take extra doses of yucky meds.  He's my little trooper though and did it all with only a few tears.  

He has been a little "off" the last three weeks.  Not sleeping well and waking up early (4:30 - 5:00 AM).  Crying outbursts lasting 30 minutes or more.  Nothing we do seems to help - once again I wish he could tell me what's wrong.  He has had some temperature control issues indoors.  He feels very warm to the touch and is very tired.  I can remember this happening around this time last year too.  He's had a runny nose and cough since June 5th.  It will probably hang around for another week or more.  It always takes Trace quite a while to get over them. 

He's definately been feeling the effects of the summer heat.  He can't be outside for 5 minutes without turning completely red and hot.  He has a cooling vest, but it does no good for him when it's this hot.  For those who don't know, Trace can't sweat and therefore his body can't cool itself which can lead to a heat stroke.  The docs believe it's a side effect from one of his seizure meds, Topamax, what a lovely side effect right?  But the docs and I both agree it's better to have the seizures under the best control possible.  So it's nothing but water play for my little guy - which he is not opposed to at all!

He enjoyed some playtime in the water last Sunday on his slip and slide.  He can't actually run and slide, but he can slide with Dada's assistance.  Trace would sit, Daddy would give him a good push and Trace would scoot back on his bottom.  Eventually Trace even braved it on his tummy!  I think Dada's arm got quite the workout.  So did Trace though, because he was saying "nigh nigh" at 3:30 PM.  He curled up on me and was asleep by 4:00, woke up at 5:00, took meds, vomited his meds back up, and only woke a few times.  He was up at 3:00 AM to eat and fell back asleep until 6:15.  I was happy not to be up before the roosters!

Trace will go in on Monday AM to have another VEEG.  I pray he can make it through attaching all the leads without too much of a meltdown.  I pray our favorite nurse is  there - he's amazing and Trace loves him.  I pray I can make it through 23 hours stuck in a small room with Thomas and he not drive me completely crazy! :-)  Seriously though - please pray for good results for my little Mister.

Well so much for a short update :-)  Thanks for checking in on us!

Hope, Love, Courage &Faith,

Laurie