Klaw recently had pneumonia...and didn't have to be hospitalized. This is a pretty huge milestone, even though it's not in any development charts. None of his previous hospitalizations have been for issues caused by VLCADD, but his VLCADD is what made hospitalization necessary. The average child would have been treated at home for the same illnesses.
Dr. Proud told me, and I quote, "You can calm down now, Mom." Now that Klaw is a year old, he has enough glycogen reserves to sleep through the night & go longer between feedings, in general. Now, Klaw has been sleeping through the night since he was born. It sounds awesome, but it's not when your kid has an FaOD. Just because he was sleeping through the night didn't mean we were. These past few days have been the first days since his birth that he didn't require at least one feeding during the night. A feeding he slept soundly through almost every single time. Lucky kid.
Anyways, back to VLCADD:
Chris's mutation analysis finally came in &, well, he is officially a carrier of VLCADD, too. So, here's the family genetic mutation breakdown:
Klaw - Allele 1: 848 T>C (V283A) & 950 T>C
Allele 2: 848 T>C
Dana - Allele 1: 848 T>C (V283A)
Allele 2: No Mutation Identified
Chris - Allele 1: 848 T>C (V283A) & 950 T>C
Allele 2: No Mutation Identified
848 T>C (V283A) is a common mutation for VLCAD deficiency. The 950 T>C has no known significance and has, thus far, only been documented in six other people (only 3 families!), in addition to Klaw & Chris. It has been inherited along with 848 T>C (V283A) in each case.
What does this tell us? Not a whole heck of a lot, to be quite honest. These fatty acid oxidation disorders are incredibly rare and very little is known about them. In Virginia, the expanded newborn screening has only included these disorders for six years. The fatty-acid oxidation disorders have really only been on the radar for about 11 years.
I hope that by documenting the mutations in our family, it will help provide more information that will help in the study of & treatment for these disorders. For the time being, all the FaOD kids are more or less guinea pigs as doctors, dieticians, and parents figure out what works best for each affected individual. So far, Klaw seems to be responding well to basic maintenance.
Now that Klaw is eating more regular food & less formula, we are going to add Flaxseed Oil to make sure he is still getting enough of the essential fatty acids that he needs, even though the fall into the category of fats he cannot metabolize. His body, just like everyone else, still needs the "good" fats for proper health & development. The key is maintaining a balance. His iron was a little low, so his pediatrician wants us to also add a multi-vitamin with iron to his daily regimen.
For the curious, his current diet & supplement regimen is as follows:
- ~8oz of Monogen formula (prescription) 3-4 times a day
- 1ml of pantothenic acid (vitamin B5) once a day
- 1/4 tsp of Flaxseed oil once a day
- up to 6g of fat each day, in addition to his formula
- an iron-containing multi-vitamin once a day
As Klaw gets older & eats more and more regular food, we'll have to play around to find his true upper limit of fat intake. The typical VLCADD diet has been limited to 10% fat but they are finding some patients can handle a diet up to 40% fat. There's no way to tell ahead of time at this point...but I'm not worried.
I'm happy. Klaw is doing well. He's growing well. Klaw is well.
Tomorrow will be here soon enough, so I'm going to delight in today.
Oh! I almost forgot!
Our big boy now has a big boy hair cut.