About

Muggy was born in July of 2002, a healthy (high APGAR) 9 pound, 5 ounce baby boy.

Muggy didn’t feed well, and had gastro problems right away. At 5 days old he started having seizures.

Before he started having seizures on day 5 we knew something was wrong – he was crying constantly and throwing up. We took him to St. John’s Hospital where he was examined and we were told he had colic, and sent home with some medicine. As soon as we got home I said to Torri, “He doesn’t look good. We’re going back to the hospital right now”. I had noticed a bluish tint around his lips. This visit to the emergency room (less than 2 hours later!) was different. Muggy’s problems were immediately taken much more seriously, and then he started having seizures. It was decided that he be airlifted by helicopter to Cardinal Glennon Children’s Hospital where he stayed for the next ten days in intensive care. He came very close to dying. He had bleeding in his lungs and stomach, was on a ventilator and we were told that there was a good chance that he might not make it. He was baptized July 30th (he was less than a week old):

But then a sharp neurologist tried giving him vitamin B6, and he started improving (the visible seizures, which had been constant stopped – and the EEG spikes slowed down). Within a couple of days his condtion had improved dramatically, the bleeding stopped, and he was taken off the ventilator at day 9. He started breast feeding like normal!

Muggy was eventually diagnosed with the very rare condition of vitamin B6 dependency (Pyridoxine Dependent Seizures, or PDS). It is a recessive genetic disorder where he is unable to metabolize B6 properly. There are less than 200 documented cases worldwide. You can read more about his condition here and here. He takes vitamin B6 daily to control the seizures and will have to do so for the rest of his life. He’s had three more seizures since the initial diagnosis, usually caused by some illness (the flu, and RSV) that caused him to spike a high fever.

The RSV event was another 10 days in the ICU at Children’s Hospital, we weren’t sure he was going to make it that time, either. Plus, he seized for over 2 hours and was once again air-lifted to the ER. The one good thing that came from that episode was The Kit. After talking to Dr. Fenton about how we live so far out in the country, and having no way of administering B6 to a seizing, vomiting child he set us up with 100 Mg vials of pyridoxine and a syringe to inject IM in case of seizure, as well as Diastat (Diazepam Rectal Gel). His third seizure was so much better because of The Kit: We administered the Diastat, injected him with 100 Mg pyridoxine in the thigh muscle, and within minutes he was sitting up looking around and acting normal. We took him to the ER, they looked at him, said he had some kind of flu bug (fever of 101°) and sent us home!

It was initially thought that he may be hydrocephalic, because an MRI had shown a larger than normal space between the frontal lobe of his brain and the skull. He was given TWO spinal taps to test for this (the first was inconclusive). It was decided that he did not in fact have hydrocephalus. I held him steady during the last spinal tap, and he is such a tough guy, he didn’t even cry – and they gave him this stuffed animal (a chameleon) for being so brave:

“The vast majority of patients present with seizures within the first couple months of life, sometimes even before birth as a fetus,” says Sidney Gospe, professor of neurology and pediatrics at University of Washington – and Torri felt strange movements in her womb when she was pregnant with Muggy. She thought he was “hiccuping” or just kicking for long periods, but now we believe he was actually having seizures in utero.

During his first 6 months Muggy was also taking phenobarbital (an addictive barbiturate/anticonvulsant), which we weaned him from against the advice of our doctors. In retrospect it was a good decision – he began advancing cognitively and physically at a much faster rate.

Then I tried weaning him from the B6, he had gone so long without a seizure and was progressing so well – also I wasn’t 100% convinced he even HAD a B6 dependency, it was so rare and when we lowered his dosage we seemed to see improvements in motor skill and brain function.

Bad decision.

He had a seizure within two days of stopping the B6, and we rushed him to the hospital where they administered 100mg of B6 in his IV and his seizures immediately stopped.

I was convinced. Sorry buddy, but I had to know for sure.

Anyway he’s doing great now, here is a picture of him on his first day of first grade:

UPDATE: Muggy just started second grade. He is still doing great, he is a little delayed and has some difficulty – I would say “staying focused”, but sometimes it’s the exact opposite: he gets so engrossed with what he is doing right now it is hard to get his attention, or get him to shift his attention to something new.

Often he seems to ignore people, or not answer when he is asked a question – but he’s not being rude or inattentive. He just needs more time to process things than people are used to, plus I think he is so single minded (intent on the moment) that he often literally doesn’t hear a question.

So please just be patient if you say “Hi!” to him and he doesn’t say “Hi!” back – just try again, you’ll get that wonderful Muggy smile, and soon you”ll be talking to one of the nicest guys you’ll ever meet!