Two years ago, my grandson, Matthew, was born. He exhibited early problems including a fatty liver, nonketotic hypoglycemia, and vomiting. He was lethargic and cool to the touch. He was one ill little boy. At the time we did not know why.
Within days, a series of tests indicated he likely had a fatty acid oxidation disorder. Which one could not be pinpointed, but we knew it was a long-chain disorder. The most likely included CACT and CPT2. Both of these are astoundingly rare, but sure enough, later genetic tests showed mutations on the CPT2 gene.
I read all I could on CPT2 and everything I read was infinitely more scary than the holiday decorations around the date of his birth. Even the form of his disorder: FATAL infantile onset CPT2 - just knocked the breath out of me. One thing I remember reading was that babies born with this form of the disorder usually died shortly after birth, but if they survived until they turned 2 years of age, their risk of sudden death went down to nearly zero.
Today Matthew turned 2. He is a regular little guy. He loves playing with cars and trucks, loves cake, and though still affected, he is OK. He graduated from physical therapy and can go up and down stairs by himself. He speaks in full sentences. He is healthy. He is 2.
I've learned a lot since the day he was born when I looked in terror as his little body unfolded in my arms, limp and cold. I've learned there is hope and there is a need for more education on these rare disorders. I've learned where to look for help and how to interpret complex academic papers on the subject.
I looked forward to this day for the last two years. In my heart, I knew it would arrive.