She was diagnosed last week with MCAD, medium chain acyl-CoA dehydrogenase deficiency. Basically she will have problems breaking down fat into energy. She has an enzyme that doesn't work properly.
When that enzyme is missing, or not working properly, the body cannot use certain types of fat for energy and must rely solely on glucose. There is a limited amount available, and once it has been used up, the body tries to use fat without success. This will then lead to low blood sugar, and this is what we have to avoid. Low blood sugar could lead to metabolic crisis.
She can't go for long periods without eating as that could lead to crisis. Getting sick or having an infection and not eating is when this really is a problem.
She will need to be on a lower fat diet and will need to watch her fat intake.
Having MCAD, and her case is neither the worst or the least amount, they figure her levels are mid range, and will only be a problem when she's not eaten and because she's small. It is lifelong, but as she gets older, and can tell us when she's hungry (although she's doing a good job of grunting and telling mom now), it will be fine.
Both Jamie and I carry the recessive gene, and Audra got one bad gene from each of us. The best part of that is, there is a one in 15,000 chance that people will develp MCAD. Jamie is calling us the perfect genetic storm! ha ha. If we have more children, there will only be a 25% chance that they could have MCAD. Weird eh?
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