[Roo] MCAD Deficiency
Aug. 28th, 2011 02:55 pm![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
woodwardiocomSo, yesterday we got a call regarding Roo's bloodwork. It seems she has Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD). This is very treatable, so we're only mildly freaked out.
Briefly and simplified, the process of turning body fat into energy involves a bunch of enzymes, and Roo can't produce one of them. This means that if she fasts for too long, or exercises too heavily (so that her body starts burning fat), instead of turning fat into energy, it gets turned into toxins.
The treatment is basically to eat regularly. As an adult, she'll be able to eat on a normal schedule. (A low-fat diet and carnitine supplements also help.) As an infant with a small stomach, she needs to eat every 2-3 hours, which is pretty much a normal newborn schedule anyway. We just need to be diligent about it.
In the "it takes a village" department: If at some point you, faithful reader, happen to be with Roo, and you notice lethargy, nausea, vomiting, or (heaven forfend) unconsciousness, the treatment is to get food into her and get her to a hospital. If she starts showing symptoms, it can turn very bad very fast. Our undying gratitude will be involved.
Thank you for reading this far, and we hope you get to meet her soon!
Briefly and simplified, the process of turning body fat into energy involves a bunch of enzymes, and Roo can't produce one of them. This means that if she fasts for too long, or exercises too heavily (so that her body starts burning fat), instead of turning fat into energy, it gets turned into toxins.
The treatment is basically to eat regularly. As an adult, she'll be able to eat on a normal schedule. (A low-fat diet and carnitine supplements also help.) As an infant with a small stomach, she needs to eat every 2-3 hours, which is pretty much a normal newborn schedule anyway. We just need to be diligent about it.
In the "it takes a village" department: If at some point you, faithful reader, happen to be with Roo, and you notice lethargy, nausea, vomiting, or (heaven forfend) unconsciousness, the treatment is to get food into her and get her to a hospital. If she starts showing symptoms, it can turn very bad very fast. Our undying gratitude will be involved.
Thank you for reading this far, and we hope you get to meet her soon!
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no subject
Date: 2011-08-28 07:04 pm (UTC)no subject
Date: 2011-08-29 03:23 pm (UTC)no subject
Date: 2011-09-01 11:47 pm (UTC)no subject
Date: 2011-08-28 07:30 pm (UTC)no subject
Date: 2011-08-28 07:45 pm (UTC)no subject
Date: 2011-08-28 08:18 pm (UTC)In practical parenting stuff that no one wants to think about: If you need to bring a child to the ER in this town, the ER you want is Children's. Big time. Have you mapped out the route there from your house? And does your ped have privileges there?
no subject
Date: 2011-08-28 08:19 pm (UTC)no subject
Date: 2011-08-29 12:55 am (UTC)no subject
Date: 2011-08-29 02:39 am (UTC)That would be their Longwood Ave., Boston location?
no subject
Date: 2011-08-29 04:07 am (UTC)Shitty coffee in the neighborhood. Longwood just sucks for that.
no subject
Date: 2011-08-29 04:55 am (UTC)no subject
Date: 2011-08-29 01:27 pm (UTC)no subject
Date: 2011-08-29 03:24 pm (UTC)no subject
Date: 2011-08-28 08:50 pm (UTC)...nausea is going to be one of her "hunger" signs, then? (I hope that doesn't mean that I should try to get mine another blood test -- she gets nausea/car-sick when hungry.)
Keep on top of the thyroid if she has any history of thyroid problems in the family! Hypothyroidim + MCADD sounds like a recipe for Trouble.
*HUGS*
Date: 2011-08-28 08:58 pm (UTC)I hope that is easily managed and I'm sure you guys can handle it.
Let me know when you'd like to see me again.
Re: *HUGS*
Date: 2011-08-29 03:29 pm (UTC)When are you available?
Re: *HUGS*
Date: 2011-08-29 06:49 pm (UTC)Re: *HUGS*
Date: 2011-08-29 11:42 pm (UTC)no subject
Date: 2011-08-28 09:07 pm (UTC)Still scary but sounds like diligence will keep her safe and you know that we'll all do our best to help whenever we see her (at any age)
Anything you need or want brought whenever visits happen?
no subject
Date: 2011-08-29 03:24 pm (UTC)Oy, you have my sympathies
Date: 2011-08-28 11:40 pm (UTC)We will keep it in mind for when we are in the same space.
Hang in there.
no subject
Date: 2011-08-29 12:13 am (UTC)...ok, that's as coherent as I can be right now.
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Date: 2011-08-29 02:34 pm (UTC)no subject
Date: 2011-08-29 01:37 am (UTC)Snert's been treated through Boston Children's ever since her diabetes diagnosis 6 years ago, and they've always done right by us, both inpatient and outpatient.
Wishing you all the best.
no subject
Date: 2011-08-29 01:57 am (UTC)no subject
Date: 2011-08-29 02:05 am (UTC)Was this just the standard bloodwork or was there some prompting event that caused the medical staff to look for this specifically?
no subject
Date: 2011-08-29 02:37 am (UTC)We need to make a point of having you meet her, since you get part of the credit!
*blush*
Date: 2011-08-29 05:05 pm (UTC)*grin*
no subject
Date: 2011-08-29 04:59 am (UTC)no subject
Date: 2011-08-29 01:30 pm (UTC)Jayzus
Date: 2011-08-29 04:53 pm (UTC)Looking forward to meeting her and seeing you guys soon.
no subject
Date: 2011-08-29 05:18 pm (UTC)no subject
Date: 2011-09-01 11:47 pm (UTC)