Our oldest son Micah was diagnosed with isovaleric acidemia (IVA) when he experienced a metabolic crisis after birth. IVA is a rare metabolic disorder which you can read about on the Newborn Screening site. Short version: he is unable to metabolize leucine, an essential amino acid, because he has an inactive enzyme hindering the metabolism process.
1. He will never outgrow this. It's actually encoded in his DNA. (And no, they can't just give him a working version of the enzyme. We asked.)
2. Justin and I are both carriers of IVA. This has no effect on our health.
3. Kevin and Caleb are both carriers of IVA. They have Justin's "bad" gene.
4. With each pregnancy there is a 25% chance of the baby having IVA and a 50% chance of being a carrier. And of course a 25% chance of being completely unaffected.
5. Micah eats a protein-restricted diet. (No meat, dairy, legumes, etc)
6. Yes, he actually eats. I count the grams of protein that he eats every day. The amount he is allowed is based on his weight. Currently he can eat 28 grams of protein a day
7. He does need more protein than what he consumes from food so he drinks a medical formula that contains the rest of the necessary protein minus leucine.
8. His health is closely monitored by his metabolic doctor. He has frequent checkups and blood work to check amino acid levels.
9. Even minor illnesses can have serious repercussions so he is carefully monitored when ill.
10. With the necessary diet restrictions, IVA (with no complications) has no negative impact on quality of life.
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Posts Related to IVA
In Your Darkest Moments
6 Ways to Help a Family with a Baby in the NICU
Rare Disease Day: Why I Quit Saying "As Long As He's Healthy"
Rare Disease Day
