Friends & Family,
This summer was not like most... At the end of May and first week of June Malia suffered 2 pretty intense seizures. One was while she was brushing her teeth and if not for Chris's quick response, Malia would have gone head first into the sharp edge of our tiled tub (Scary)!!!
The Neurologist determined that after those latest two episodes she would benefit from an extensive 24-48 hour EMU (Epilepsy Monitoring Unit). We were given a waiting list time of ANYTIME between June 9 and August 12 UMMMMMM SEARIOUSLY?! Oh, and that we would be given at the most 24 hours notice for admittance. So lets just say that we stayed close to home.
In the mean time our Neurologist recommended more genetic testing. Malia's last genetic testing was 4 years ago, it was worth trying again. Reluctantly, (Not having much faith I'll admit) we returned to the UCDAVIS MIND institute in hopes that answers to her issues may be revealed. In a coconut shell, Malia had already been diagnosed with Mild CP, ADHD, OCD, Seizure Disorder, Severe Migraines, an unknown genetic disorder, erratic mood swings (Behavioral problems) and ID Intellectually delayed (Formerly referred to as mental retardation). The MIND Institute suggested a newer(ish) test out of UCLA, an Xcross-chromosomal DNA genetics test... My first question.... "What is the likelihood that we will finally find out whats wrong with her and getting a genetic diagnosis?" "Well Mrs. Thomas, I see her and think a 50% chance... I read her medical history (its perplexing)and think more like less than 30% chance of you ever knowing why Malia is the way she is or any prognosis of what her life will be like". My response was "Fantastic! those odds suck butt so lets just run to the nearest lab and wait 4 months for inconclusive results! than we can all run in circles with daisy pierced headpieces and chant for answers." OK... OK... I'll admit I can be a bit of a pessimist and a smart ass. But I married a man who is a Glass is 1/2 Full, so I walked across the street and the three of us gave blood.
In the mean time our Neurologist recommended more genetic testing. Malia's last genetic testing was 4 years ago, it was worth trying again. Reluctantly, (Not having much faith I'll admit) we returned to the UCDAVIS MIND institute in hopes that answers to her issues may be revealed. In a coconut shell, Malia had already been diagnosed with Mild CP, ADHD, OCD, Seizure Disorder, Severe Migraines, an unknown genetic disorder, erratic mood swings (Behavioral problems) and ID Intellectually delayed (Formerly referred to as mental retardation). The MIND Institute suggested a newer(ish) test out of UCLA, an Xcross-chromosomal DNA genetics test... My first question.... "What is the likelihood that we will finally find out whats wrong with her and getting a genetic diagnosis?" "Well Mrs. Thomas, I see her and think a 50% chance... I read her medical history (its perplexing)and think more like less than 30% chance of you ever knowing why Malia is the way she is or any prognosis of what her life will be like". My response was "Fantastic! those odds suck butt so lets just run to the nearest lab and wait 4 months for inconclusive results! than we can all run in circles with daisy pierced headpieces and chant for answers." OK... OK... I'll admit I can be a bit of a pessimist and a smart ass. But I married a man who is a Glass is 1/2 Full, so I walked across the street and the three of us gave blood.
While waiting... and waiting... and waiting... There was Football Practice for Justin 4 days a week, football camp in South Lake Tahoe and then Fly football camp for Clay. We squeezed in a couple day trips and some minimal camping. A relatively blessed and what some could call a mellow summer.
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An unexpected shock came to our family this summer in June when my daddy was diagnosed with thyroid cancer, that could have already passed to his lymph nodes. For ME... it was a complete BLOW emotionally. There are no words to describe how my heart felt, so heavy and hard. "Not my dad" I'd yell! he's one of the healthiest, strongest men I have ever known and loved. In my head this couldn't be possible. My dad is my ROCK and besides Chris, I trust no other man!
My dad is the 4th of 5 kids. My Grandfather passed when I was 9. One of my aunts passed over 10 years ago and within the last few years my father has lost his baby brother and my grandmother. I shout in my head "WHAT THE HELL?!" It all just seemed too much for a family to experience.
Moving on, the true miracle was how his cancer was diagnosed. My dad is on my moms work insurance (Kaiser, who was moving at snail paces for testing my dad) but over the last few years he's gone through extensive tests, paperwork, interviews & applications to get full benefits from the VA (My dad is a former Marine). "Oorah Dad!!!!" It was the VA hospital in Palo Alto that ran the appropriate tests and procedures rapidly that led to such a quick diagnosis, surgery and recovery. Today he is Cancer free but tests/scans will continue to be in his future.
I'm not sure I have fully recovered emotionally, I often shout when I'm irritated "For the love of Peter, Paul, Mary & their cousin Randy!"
Not sure why I say that tho, or where I got it :)
Jumping forward... Malia's Neurologist finally called that it was time to admit her for a day or two to run the EMU. The importance of this test was to take her off of her seizure and migraine medications in a controlled hospital environment. If she had a seizure than we could pinpoint where in her brain they were coming from and hopefully give us answers as to Why? What? When? How? these seizure episodes are being brought on by... It is frustrating and heartbreaking to say goodbye to her everyday with that contagious giggle and smile not knowing whats going to happen on any given day. Is this the UNKNOWN Genetic disorder that causes these things to happen? I'd ask myself (almost beating myself up mentally EVERY DAY). Needless to say... the tests went on for 5 days at Sutter Memorial Hospital with NO seizure activity. :(
As I drove home from the hospital with emotional and physical exhaustion HE and I had a "chat".
"What now Lord? You say you've picked me to care for her and love her yet I don't how?! Lord this child tests my patience every day, holds my heart while crushing it at the same time , will she ever play out front alone? will she ever drive? experience college? marry? have kids? Will she Lord? Please give me answers?!"
Enter... the first day of 4th Grade...
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The first day of school is ALWAYS the hardest for me. My mind gets waaaaaaaaay ahead of reality. My frontal lobe goes into overdrive and I find myself cracking jokes to myself (Strictly as a defense mechanism) to hide what my real thoughts are... Why must my daughter, my beautiful little girl ride the short bus (van)? Who's going to make fun of her today? Why will she be on the playground by herself? but more importantly, Lord can you protect her from cruel adults? Can you bring her home safely? Will this be the year she gets invited to a schoolmates party? So far I am pleased to report that school is going well and that I haven't had to trip any children or adults yet :) but the year is still early!
We surprisingly got a call 2 weeks ago that the chromosomal Xcross DNA genetics results had come in sooner than expected. Excited? hahahhhahhhahahhhhha!!! no Why? (Secretly I thought I knew that the results would prove to be inconclusive as always. Suddenly tough, hard Yvonne faded and precipitation struct Yvonne appeared desperately hoping for answers I became a mess!! The possible "What If's" were consuming me. The results were to be read at 8:30am on Wednesday September 3rd. I couldn't sleep, focus, I was simply emotionally unavailable. All the hopes and prayers, fingers crossed... they didn't matter anymore. The tests were done. It was time to wait and occupy.
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Just a suggestion for trying to stay occupied... Try spending time watching some Friday Night Lights (NOT THE TV SERIES) although Chris has always had a celebrity crush on Tammy Taylor (ssshhhhhh)... The game Justin Played on 8/29 was GREAT (Of course I'm his mom right?) But he played with 100% heart on Offense and Defense. We were so proud of him GO COUGARS.
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The next day we spent watching our #77 Clay-Bo known as "Cheerio" to his coaches (and we still don't know why).
***Sorry we haven't uploaded his game pics yet***
He too had a fantastic and somewhat close game for many quarters it was exciting to watch!
Regardless, it was an awesome weekend of watching football because both our boys clearly gave it 100% as well did their coaches and teammates. A typical Sunday at church would chase Friday night and Saturday evening football games but not last weekend....
Malia got violently ill Sunday morning...
She ended up in the ER with a severe Migraine. luckily for us the on call peds neurologist was Malias Dr, knowing he/we had decided to keep her off her meds post 5 day EMU a month prior with no seizure activity he felt strongly that Malias Migraines were returning more violently and much quicker off the meds. STILL DOESN'T GIVE US ANSWER'S THO Monday was also very rough for her physically she suffered another migraine. I watched her roll on the floor in agony, trying to scratch her own eyes out begging for me to stop the pain in her head!!! She has I.D. and an IQ of a 3-4 year old. How am I to explain to her that she will be ok and wont die? I'm not going to lie... this life ages a person its extremely trying on Chris, me and especially the boys who feel helpless!
My only glimpse of possible hope would come with answers on Wednesday... just 2 days away...maybe...just maybe... we'll get answers.
Tuesday was a much better day... I spent the day on the phone with her doctors trying to figure out our next game plan which will include a 3-dar MRI Imagining Unit (Sedated of course). Scheduled for September 17th (I think).
As Clay and I try to pass the time on Tuesday night till Chris gets home from football practice with JT we get a call "Don't Panic but Justin got hurt on the football practice field and the coaches are calling 911" -Chris.... "o.k. lets not get hasty cause I've got kinda a lot going on tomorrow and JT always bounces back, just slide him in the car and we'll drive him in"-Me "Um yea no... Yvonne its pretty bad..."-Chris
I quickly check my car to make sure I'm not being punked because this HAS GOT TO BE A BAD JOKE!! (no cameras found).
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No bad joke here... he has a broken femur at the knee, dislocated MCL, dislocated meniscus, and broken tibia. Surgery is Wednesday. His Sports Orthopedic Surgeon is optimistic that by early Spring with the right rehab and conditioning, he should be at 100% or stronger. He says boys with his health and drive come back stronger! we'll pray that its as painless as ever. Coaching staff said "Chicks dig this stuff JT" lol.
Lastly (I Promise), Chris and I left UC Davis Med Center around 2:00am so that we could return 6 hours later to get Malia's genetics report.
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There has been an end to the "Mystery" in "Mystery Malia"
She has been officially diagnosed with a genetic disease called BARAISTER-WINTER SYNDROME Its truly a miracle that the test was even invented, there are only 42 published cases and Malia will soon be the 43rd, as well as being the 43rd she is still even more special than that :) she is the ONLY one of the 43 with an extra protein. Please don't ask a lot of details because there is just not enough research on it. We were given the 90 minute clinical DNA/Protien results explanation but from what we've read so far... it totally explains her. Is this good? Is this bad? We have not had enough time to process other than getting confirmation that seizures and other brain issues will be common and that she will more than likely never fully develop mentally or physically. The confirmation was kind of a relief because we finally know, however confirmation of her prognosis of life is a really big pill to swallow
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. This has been an extremely jacked up week filled with ton's of crap. (I refuse to sugar coat it). I am FULLY aware that others have situations far worse than ours (because they always let me know). Health is a tough one for me... We all have struggles and sometimes those struggles feel like mountains that we will never peak. I'm still unsure when my strength will help me reach the summit. What I do know is that when I get pulled/pushed to that summit... its going to be glorious and I will not have done it alone :) My best friend will be with me and his name is Jesus...
Thanks for reading!
CYJCM
PS the rumors are true...
I have been arrested once at 16 Years old for "Attempted Assault of a Police Officer" and I WAS INNOCENT although the judge felt differently. Other than that... I've only entered jail with free will to help others in my situation and they almost always let me out! :)
We surprisingly got a call 2 weeks ago that the chromosomal Xcross DNA genetics results had come in sooner than expected. Excited? hahahhhahhhahahhhhha!!! no Why? (Secretly I thought I knew that the results would prove to be inconclusive as always. Suddenly tough, hard Yvonne faded and precipitation struct Yvonne appeared desperately hoping for answers I became a mess!! The possible "What If's" were consuming me. The results were to be read at 8:30am on Wednesday September 3rd. I couldn't sleep, focus, I was simply emotionally unavailable. All the hopes and prayers, fingers crossed... they didn't matter anymore. The tests were done. It was time to wait and occupy.
Just a suggestion for trying to stay occupied... Try spending time watching some Friday Night Lights (NOT THE TV SERIES) although Chris has always had a celebrity crush on Tammy Taylor (ssshhhhhh)... The game Justin Played on 8/29 was GREAT (Of course I'm his mom right?) But he played with 100% heart on Offense and Defense. We were so proud of him GO COUGARS.The next day we spent watching our #77 Clay-Bo known as "Cheerio" to his coaches (and we still don't know why).***Sorry we haven't uploaded his game pics yet***
He too had a fantastic and somewhat close game for many quarters it was exciting to watch!
Regardless, it was an awesome weekend of watching football because both our boys clearly gave it 100% as well did their coaches and teammates. A typical Sunday at church would chase Friday night and Saturday evening football games but not last weekend....
Malia got violently ill Sunday morning...
She ended up in the ER with a severe Migraine. luckily for us the on call peds neurologist was Malias Dr, knowing he/we had decided to keep her off her meds post 5 day EMU a month prior with no seizure activity he felt strongly that Malias Migraines were returning more violently and much quicker off the meds. STILL DOESN'T GIVE US ANSWER'S THO Monday was also very rough for her physically she suffered another migraine. I watched her roll on the floor in agony, trying to scratch her own eyes out begging for me to stop the pain in her head!!! She has I.D. and an IQ of a 3-4 year old. How am I to explain to her that she will be ok and wont die? I'm not going to lie... this life ages a person its extremely trying on Chris, me and especially the boys who feel helpless!
My only glimpse of possible hope would come with answers on Wednesday... just 2 days away...maybe...just maybe... we'll get answers.
Tuesday was a much better day... I spent the day on the phone with her doctors trying to figure out our next game plan which will include a 3-dar MRI Imagining Unit (Sedated of course). Scheduled for September 17th (I think).
As Clay and I try to pass the time on Tuesday night till Chris gets home from football practice with JT we get a call "Don't Panic but Justin got hurt on the football practice field and the coaches are calling 911" -Chris.... "o.k. lets not get hasty cause I've got kinda a lot going on tomorrow and JT always bounces back, just slide him in the car and we'll drive him in"-Me "Um yea no... Yvonne its pretty bad..."-Chris
I quickly check my car to make sure I'm not being punked because this HAS GOT TO BE A BAD JOKE!! (no cameras found).
No bad joke here... he has a broken femur at the knee, dislocated MCL, dislocated meniscus, and broken tibia. Surgery is Wednesday. His Sports Orthopedic Surgeon is optimistic that by early Spring with the right rehab and conditioning, he should be at 100% or stronger. He says boys with his health and drive come back stronger! we'll pray that its as painless as ever. Coaching staff said "Chicks dig this stuff JT" lol.
Lastly (I Promise), Chris and I left UC Davis Med Center around 2:00am so that we could return 6 hours later to get Malia's genetics report.
There has been an end to the "Mystery" in "Mystery Malia"
She has been officially diagnosed with a genetic disease called BARAISTER-WINTER SYNDROME Its truly a miracle that the test was even invented, there are only 42 published cases and Malia will soon be the 43rd, as well as being the 43rd she is still even more special than that :) she is the ONLY one of the 43 with an extra protein. Please don't ask a lot of details because there is just not enough research on it. We were given the 90 minute clinical DNA/Protien results explanation but from what we've read so far... it totally explains her. Is this good? Is this bad? We have not had enough time to process other than getting confirmation that seizures and other brain issues will be common and that she will more than likely never fully develop mentally or physically. The confirmation was kind of a relief because we finally know, however confirmation of her prognosis of life is a really big pill to swallow
Thanks for reading!
CYJCM
PS the rumors are true...
I have been arrested once at 16 Years old for "Attempted Assault of a Police Officer" and I WAS INNOCENT although the judge felt differently. Other than that... I've only entered jail with free will to help others in my situation and they almost always let me out! :)
