Vials of Hope: How Vitamin B6 Saved the Life of a Desperate Couple’s Son

The 9th Floor.

Duane, myself, and two Vials of Hope filled with blood drawn the night before from our very own Superhero.

Two vials drawn immediately prior to his RSV shot. After which he cried. With sound. And shed his first real tear.

A real tear.

We’ve had several of these moments over the past week. Moments highlighting changes in MC that have been too significant to ignore.

This was my son two weeks ago.

And this is him today.

We’ve gone from planning a funeral to planning Christmas, from remaining bedside  to sneaking out for dinners, and perhaps, the biggest adjustment of all, from vowing that we would refrain from returning to the hospital, to heading through those doors once more.

Is it simply a reprieve from the horror of late? A true Christmas miracle?  Or the story of one incredible father who never ever gave up?

I think it’d be fair to say that it’s all of the above.

For months, Duane has been researching vitamin dependent seizures, the symptoms and EEG patterns of which mimic Ohtahara Syndrome. Two weeks ago, when MC was in critical condition, Duane pushed to have vitamin b6 added to his regimen of over 15 daily medications. At the time, we had no choice but to continue to increase the dosages of his other medications, which we knew could leave us in a predicament, if by some miracle we saw an improvement in MC.

Which we did. A dramatic improvement. So dramatic that it has left us wondering whether the b6, was, in fact, the cause. 

After a week of continued improvement, we just couldn’t ignore it any longer. On Friday night at 11 p.m., I fired off a desperate email to an old client who I knew worked in genetics at our hospital, and by 9 a.m. Saturday morning, a team of geneticists were arranging an immediate appointment for us in conjunction with our neurologist.

It was an incredibly productive meeting that resulted in: 1) further genetic testing to pinpoint a single gene associated with pyridoxine-dependent seizures, 2) an epileptic panel test to explore other genetic causes, 3) a doubling of MC’s current b6 dose.

And while numbers 1 and 2 could be helpful, it’s the reaction to number 3 that will tell us if we’re headed in the right direction.

You see, one of the realities of using an anonymous egg donor and a gestational carrier in India is that we’ll never have access to the medical history of our missing link, nor can we answer all the relevant questions regarding the pregnancy and birth.

We could beat ourselves up about it, or we could recognize that these are the realities we signed up for, and we wouldn’t have our children otherwise. We’ve always done the latter, which makes delving into the genetics issues for possible clues but never complete answers, a difficult but necessary path.

Even armed with such information, however, we are dealing with incredibly rare diseases– Pyridoxine-dependent Epilepsy being even more rare than Ohtahara Syndrome– which means that we could still find ourselves left scratching our heads should MC’s testing differ from that of the the very small population of children who have been diagnosed with these conditions.

Which is why we’ll remain focused on treatment, the beauty of which is that, unlike trialing and erroring medication dosages, there is comparatively very low risk in doing the same with vitamins.

As for now, we are just basking in the enjoyment that is a rested and engaged MC, two incredibly giddy parents and one crawling Princess (I know, she totally deserves her own post) who will all be celebrating their very first Christmas TOGETHER.