Love for Izzy with Monocarboxylate Transporter 8 Deficiency

April 20, 2015

Israel was three months old when doctors started to take notice that he wasn’t holding his head up for longer than a few seconds at a time.

We were sent for an ultrasound of his head to check out his soft spots and to see if they were closing properly. We were then sent to the closest children’s hospital to meet with a neurologist. After some blood work came back a little funky, we were then sent to an endocrinologist and a geneticist.

It seemed like after our first visit about thyroid issues our endocrinologist had a pretty good idea about what Israel had and almost two years later he was correct with the diagnosis of MCT8.

We really lucked out on the fact that he had actually seen a case of this before otherwise we would most likely still be in the testing process.

Since our official diagnosis we have been able to find an amazing support group of families with children with this disorder. Less than 20 families in the United States have been diagnosed with MCT8 but there are more than 100 world wide. We really just want to get the word out.

Israel cant sit without support, crawl, stand or walk. He has yet to say an actual word and he is unable to eat solid foods but none of this holds him back. Even with seizures, spasms and trouble sleeping he is the happiest kid I have ever met.

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