Saturday, September 21, 2013

I Love Someone with Mito

I have this decal on the back of my car, you can buy them on Etsy for $10, and all proceeds go to Tgen and The Mylee Grace Research Fund for Rare Childhood Disorders (they have other causes as well). It sums up everything I could ever try to say or explain on why I fight so hard to bring awareness and a cute for Mitochondrial Disease. I thought the message on the decal was a great way to close out Mitochondrial Disease Awareness Week.

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Thursday, September 19, 2013

Arizona Mito Awareness 2012

I'm fairly certain I posted the following video before, but it's so educational and informational about Mitochondrial Disease, bringing it back to the forefront is a good thing. This video was made for the Mito Walk we did in Phoenix this past December. Landon is in this video, as are all of our Mito friends that are here in Arizona. Please take a minute to watch, and feel free to share it.

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Wednesday, September 18, 2013

Mitochondrial Disease compared to a Battery

Tonight's post will be short and sweet, the above explanation about comparing Batteries to Mitochondrial Disease comes from the United Mitochondrial Disease Foundation. They are always emailing and putting out new informational flyers and such. They really do help explain how Mito relates and effects the real lives of those who are living with it. They are a great resource, and really care about the families and individuals affected by the disease.

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Tuesday, September 17, 2013

Our Diagnosis and Journey

I know you've heard me say it time and time again, but truly our Mito family is such an amazing resource. We have connected with some of the most amazing families, and ladies that I consider some of my closest friends and God truly put them in our lives as a blessing. Thank You ladies (and gentlemen) for always being there to lend a hand, support, or to just listen.

 I have to admit when Landon was first diagnosed, it hit me like a brick wall. I will never forget the day the phone call came from the Pediatricians Office, all they said was that Landon's New Born Screen had come back abnormal and it was something they had never seen before. The next two weeks were a blur of doctors appointments, blood draws, and internet searches. The only things I could find on the internet scared me more and more. The Pediatrician sought every resource he could find, and got in touch with the geneticist in Phoenix. The Geneticists cleared their schedule for that Friday afternoon for us to come in. I compiled what must have been a bazillion pages worth of questions for them, and I was a nervous and anxious wreck. Landon's results from the blood test kept coming back in all different forms. Sometimes they would be abnormal, and sometimes they would be normal. It was at this point they decided that he had to have a skin biopsy to be properly diagnosed. So we knew that was on the agenda when we went to Phoenix.

Landon was three weeks old when we made the 2 hour trek to the Geneticists Office. I remember having to pull over on the side of the highway to puke because I was so scared, and had the worst migraine I can remember even to this date. The Geneticist was nice, he explained the disease that Landon's New Born Screen came back abnormal for, VLCAD. He told us that Landon 'didn't present or look like a child that had the disease, but we had to find out for sure.' They did a thorough check of him, we met the Nutritionist who went over his new diet, Metabolic Prescription Formula, Meds (that he had been on for a few days at this point), etc. It was all very over whelming, especially for a new and first time mom. I just remember sitting there praying over and over and over again, 'please God let the tests be wrong. I promise to do anything, just let the tests be wrong and Landon be o.k.'

The worst part of the day was when it was time for the skin biopsy. Landon was not put under for the procedure. they gave him some sugar water, and used a Lidicaine (a local anesthetic). They had two Geneticists come in for the procedure, a nurse, and then asked if I would help hold him down to which I refused. I held his tiny little hand while looking away and crying. He was pissed about the whole ordeal, screaming his poor little self to sleep. They took what looked like an apple corer, and cut a circular chunk of skin from the underside of his Right arm. They bandaged it with some antiseptic, and that was the end of it. We were told the skin would be grown in a lab in Phoenix for a month, and then sent to Baylor Hospital in Dallas (Ironic, isn't it?) where the testing would be done in their lab.

We waited 12 weeks for the results, and it was a grueling and quite possibly the longest 12 weeks of my life. During this time Landon was to be fed every 3 hours around the clock, let me tell you this is absolutely exhausting especially when you have no help. When we finally received the results, they were good and bad. Good because Landon has Non-Cardiac VLCAD, which they call Mild but to me it's really not an accurate representation. The news was bad, because he did in fact have VLCAD, a Mitochondrial Disease.

Things got easier the older Landon grew, once he was 6 months old we could space out feedings. He was able to go the number of hours per months old between feedings. For example, if he was 7 months old, then he could go 7 hours between feedings. This was much easier, and honestly I felt like a new person with that amount of sleep. Currently he is allowed to go 4 hours between snacks or Gatorade, and at night he takes Corn Starch before bed so he is able to sleep through the night.

We did some further testing on Landon when I was pregnant with Emeline. We were offered the chance to have a blood test done on Landon to see what his exact DNA  mutations for VLCAD were. We jumped at the chance, this also allowed us to have an amniocentesis on Emeline to see if she was affected by the disease as well. Through this test, which was done through Baylor in Corpus Christi, we discovered that Landon is the only known person in the world with his DNA mutations that cause VLCAD. Emeline luckily is only a carrier of the unknown mutation. VLCAD is an Autosomal Recessive Disease meaning that every pregnancy has a 1:4 chance of being affected by the disease, and that both parents must be carriers for the child to inherit it. After finding Landon's unknown mutation, the clinic rushed to test myself and my ex-husband. It was a simple blood test that told us a lot, we learned that my ex-husband is the carrier of the mutation known to cause VLCAD, and that I am the carrier of the unknown mutation that is also the reason why Landon is non-cardiac and 'mild.'

We have learned to live with the disease, as it is a part of our daily lives. Nothing sends chills down your back like your Mito kid that can't fast puking, having a high fever, refusing to eat due to illness, etc. We have spent way more time in the hospital than any child deserves, and Landon knows too much about 'hosipal' procedures. His Pre-School Class recently did a unit on hospitals and his teachers stopped me to tell me that he was telling his class all about being in the hospital, and how it makes you better and they give you prizes for 'pokes.' Pokes are blood sugar checks, IV's, basically anything involving a needle.

I will leave you with a series of pictures from Landon's Hospitalizations, this does not cover all of them. unfortunately.

 Landon in the PICU (Pediatric ICU) at 10 months old when his blood sugar dropped to 48. The diaper over his hand is covering his IV so he wouldn't pull at it, or pull it out. This inpatient stay was 4 days.

Landon playing blocks when he was Hospitalized with a cold. He had a fever of 104 on IB Profen, refused to eat, and could not maintain blood sugars on his own. This inpatient stay was 5 days.

Landon sitting with Emeline, he was hospitalized with a 'simple gastric bug' because he could not keep food down and his blood sugar dropped to 65. This inpatient stay lasted 4.5 days.

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Monday, September 16, 2013

Where Does Mitochondrial Disease Hide?

The picture below is a great depiction of where Mitochondrial Disease hides, and really how and why it presents differently in each person. Landon presents as severely Hypoglycemic. Most people who don't know us would have no idea that he was in fact diagnosed with a terminal illness. He looks 'normal,' except maybe the Medical ID Bracelet that he wears. I tried to get him the most unrecognizable one that I could find, we went with a Road ID. But enough on that, and back to Landon's presentation of Mito.

Landon 'dumps quick,' which means that when he fasts or gets a simple virus his body dumps his blood sugar in a very rapid fashion. When he was 10 months old, he had a simple gastric that you and I have fought off numerous times with pushing fluids and rest, and his refusal to eat or drink (because none of us are really interested in that when we are puking, etc) caused his blood sugar to go from 84 to 48 in a matter of 2 - 2.5 hours. To put that into perspective, 48 is two (2) points above the body going into seizures and convulsions from severe low blood sugar. A lot of people upon hearing this tend to think he's diabetic, where in fact it's actually quite the opposite. If we would not have know about Landon's Mitochondrial Disease, we would have lost him to this simple stomach bug at 10 months old.

Landon's specific type of Mitochondrial Disease is called VLCAD, I will have a separate post about it later this week, but the cliff notes version for this post and simply put - his body does not make enough of the amino acid, levocarnitine, to break down very long chain fats, move them across the cell membranes and turn them into energy. He is on a very strict low fat diet, and more meds than most geriatric patients. For him, Gatorade is better than water. In fact when he is active, such as swimming, running, playing soccer, etc, we have to stop him for snack and gatorade breaks to make sure that he has enough to sustain his blood sugar.

I will leave this post with the scentsy warmer that was so graciously sent to us by another mom of a child with Mito. The image on the warmer is in honor of sweet Mylee Grace, whom we lost to this terrible disease last June. The green ribbon that you see on the warmer, as well as throughout the blog design is the Mitochondrial Disease Ribbon.  Mylee was only 5 years old when she lost the battle with this disease, and her family are very close friends of ours and have helped us in ways we could never repay. I found it fitting that we received this during Mito Awareness Week, and Landon told me tonight, 'mommy I am so glad that Mylee is living with us and is keeping me safe.'

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Sunday, September 15, 2013

Mitochondrial Disease Awareness Week 2013

It's that time of year again, this week is Mitochondrial Disease Awareness Week. As always, out ultimate goal is to raise awareness and find a cure for Mito. Mito is a terminal illness, and it kills more children then all the childhood cancers combine, yet only a handful of doctors know anything about it. Here in Arizona, there is not a Mito Specialist. Landon see's a geneticists, and he's considered a biochemical geneticists. The hospital where he is seen in Phoenix, is looking to add a Mito Specialist and rumors are there should be one here soon. We are really excited, this could mean a better continuity of care for Landon, and help for so many of our friends that only have a clinical diagnosis.

We consider ourselves incredibly lucky that Landon was caught on the New Born Screen, and also that we know his exact DNA mutations that cause his VLCAD. Most families are still searching for the cause of their child's Mitochondrial Disease. The problem with Mito is that it never presents the same from person to person, and diagnosis to diagnosis. Zebras are considered the 'mascot' for Mitochondrial Disease because no zebra has the same stripe pattern, similar to how Mito presents.

Throughout the week I will share parts of our journey, although most of it can be found on this blog, and facts that are known about Mito. I will also show some videos some friends of ours have made, showcasing Mitochondrial Disease. Landon is in a few of these videos as well.

The video I will start with today, is the latest one that has been done. This video is for 'Run for Kids,' which is for the P.F. Changs Rock n' Roll Marathon in Phoenix this upcoming January. Tgen, who is the leader in finding a cure for Mito and helping families achieve a diagnosis, is an official charity of the race, and they are fabulous friends of ours. Landon's Team Page can be found here ---> Team Landon. Our goal is to raise $1,000 for Tgen. I am planning on running in some manner for Landon, and I find it pretty neat that the race falls on Landon's 5th birthday. It'll be a great way to celebrate with all of his Mito friends.

Here is the video:

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