Rare Disease Day 2019: when you’re reminded it’s rare

In January, we got phone call from Micah’s nutritionist. She announced that the company that makes Micah’s medical formula was discontinuing the product, but she would send us some samples of another option. (There are only a few formula options for Micah’s disorder.) These samples would be similar to the old powder formula that he used as a baby.

It felt like the air was sucked out of the room. I was back in our apartment kitchen, looking at an immersion blender and a collection of small bottles as I mixed formula and measured each feeding into separate bottles. This was my nightly routine once we had tucked Micah in bed. Then I snuck away for a little bit of sleep before the alarm went off, waking me up to feed him again. Occasionally I would wake unexpectedly and panic for a few moments. Was it time to feed him? Had I already fed him? Had I overslept the alarm?

He ate every three hours on the dot at the time. I spent precious minutes, day and night, with a burp cloth tucked under his chin, attempting to feed him the bottle. What little he was able to suck out spilled down his chin and onto the cloth. Then I set the bottle down, connected his feeding tube to his g-tube, and stroked his fuzzy hair while the formula drained into his stomach. He was almost 18 months old when he started consistently drinking the formula on his own. Making the swap several years later to this current formula was not simple.

After we talked to our contact at the specialty company we learned that Micah is the only person on the planet that drinks that specific formula. Occasionally I feel like every part of our life is average; other times I’m piercingly aware that it is not. Having something in our house that no one else uses makes me feel disconnected from the normal experience and I wonder if Micah will always feel that way.

It’s nothing we haven’t experienced before. I’ve explained what Isovaleric Academia is to every doctor that Micah has ever seen besides a couple of specialists. I’ve stepped an ER doctor through how to replace his g-tube with the new one that we brought with us. I’ve shown up at the ER with his formula and his medication because the hospital doesn’t have what he needs. The children’s hospital doesn’t even have his formula. Once when Micah was being transported to a children’s hospital, Justin handed medicine through the back doors of an ambulance minutes before we pulled out. He had driven to the pharmacy and met us in the parking lot.

I’ve explained his diet as simply as possible to anyone who has any level of responsible care for him. Do not feed him these certain things. I need you to tell me what he does eat when he’s with you. I can tell you how much protein is in almost anything that he eats without looking at the label. I count the grams of protein that he eats every single day.

The medical formula supplies the protein his body needs to grow without the leucine that he can’t digest. Leucine is an essential amino acid so anything with protein in it has leucine in it. We count the grams of protein that he eats to measure how much leucine he’s ingesting. It’s a calculated gamble: how much leucine can he eat without it making him sick? The formula supplements his protein intake so he can grow and so he feels full.

When he was an infant, I read the blog of a person with PKU, which shares some similarities with IVA. The author of that blog confessed that she has felt hungry every day of her life. Some part of my heart cracked when I read that and I’m constantly evaluating what he’s eaten with how much protein he has left and weighing options when he asks for a snack. I do my best every day to both control his protein intake and make sure he gets as much to eat as anyone else.

I’ve considered before what would happen if they just stopped making the formula. They don’t make money on it. Enough people don’t need it to actually pay for making it. What if there’s a cyber attack against America and we can’t get the formula anymore? What if, what if, what if. There is so much that I can’t control that I can’t travel that road long without losing my mental footing.

The formula company is revamping the product to improve the taste before they start selling it again. In the meantime, they’ve promised to mix a batch of it yearly and ship it to us for Micah. We’ll gratefully stack those boxes of formula in our hall closet. And if our house ever catches on fire, you’ll find us dragging those boxes out of the blaze once the children are safely outside.