Loving Someone Rare

Every day this month I will post information about FODs - fatty acid oxidation disorders. I believe more awareness about thiese disorders will save lives but I also do this because I love someone who is rare.

One of my grandsons has CPT2, a defect so rare that only about 30 people worldwide have ever been documented with it. That's because he has the more serious variety, one that can affect his liver and heart as well as his skeletal muscles. The slightly less serious type has affected more than 300 people and affects only the skeletal muscles. However, if someone who has this does too much exercise or does not have enough carbs, their muscles can break down to such an extent that they suffer renal failure.

In my grandson’s case he must eat every few hours. His body cannot effectively store fat for fuel. He cannot have long-chain fats. Those are everywhere except in coconut and palm oils. And before you ask, no he cannot have walnuts or avocados, they, too, have too much long-chain fats. So his diet is stilted.

What does it mean to love someone so rare? In some ways he is just like my other grandchildren: I just want to scoop them up and kiss them. In other ways, it is heart-stopping. He nearly died at birth. These kids are prone to hypoglycemia, coma and sudden death. They often suffer from fatty livers. They can experience renal failure. There could be cardiac problems. We have to be very careful. His body cannot regulate his temperature well and he suffers from the heat or cold. Even the simplest cold or virus could be life-threatening if he vomits or stops eating.

I have watched my daughter go nearly two years without a single full night’s sleep. She was - and is - worried that she will lose her child. I have to watch MY child go through that. And I am powerless.

My grandson throws his little arms around me and nuzzles me, saying “BeanBean,” happy to arrive at my house with another whole room full of toys and lots of cars on TV. I cannot imagine life without him. That is what it is like to love someone rare.

So, I will write about all FODs, not just CPT2, until we understand more and my grandson is safe.

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