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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