Getting Some News - The Lengthy Explanation

We kind of left you all hanging when we posted briefly after we received information about Josiah’s genetics and autopsy. That was nearly two months ago .... sorry. It’s been a busy and full season with lots going on in our lives. Here is an extremely long post for you to read through.

Marie already mentioned it her post yesterday – yes, we’re expecting another child in mid-October. As she hinted at, some of that fullness of the last couple of months is wrapping our heads around the fact that this pregnancy has brought challenges. We had a lot of tests to do to make sure that Marie and I are “biologically compatible” and such, and this pregnancy is going to be monitored closely by the geneticists at Women’s Hospital. And the paranoia, as one can suspect, flares up here and there. But for the most part we’ve been able to keep our wits through the past few months.

This pregnancy has been very much the opposite of what she experienced with Josiah – and that, in itself is a good thing. Marie was quite nauseous through the beginning and went a month without much sleep. Unfortunately it seems that she is entering another stretch of poor sleep and so your prayers would be appreciated.

Further, Marie was carrying twins for about eight weeks until one stopped developing. This happens – we’re not the only ones – but it certainly doesn’t make it any easier. It brings up a lot of questions and “what ifs” that I have never explored before. Some days it’s hard not to become bitter over the simple realization that we’ve lost two out of three children in our marriage. Lost. As another pastor and I discussed last weekend, it’s not so much that a person is ‘lost’ in death – I know exactly where Josiah is, and so ‘absence’ is probably a more accurate term. Thankfully everything is looking well for the child that remains in Marie’s belly.

I should probably spend some time bringing a little closure to Josiah’s genetic and autopsy results. Two things are best noted right from the top: as it relates to Josiah’s genetics, there still is aura of ‘unknowness’ because his seventh chromosome was unlike anything they had ever seen before. So landing on the right label for his syndrome is difficult even for the educated geneticist. Further, while the autopsy provides a few answers as to what may have contributed to Josiah’s death, there’s no way of knowing why he went into medical distress in the first place.

Think of it a healthy chromosome as a well-constructed Jenga tower, all the blocks neatly stacked just ready to go. The blocks represent genes and the tower they make is the chromosome. Josiah’s chromosome 7 was missing a bunch of blocks: it’s not as though some of the blocks didn’t fit quite right or with rough/banged up: there were a bunch that just weren’t there. And it is the amount of genes (aka ‘blocks’) missing that cause geneticists to be amazed because this is so rarely seen.

GLI 3 (pronounced “glee”) in the seventh chromosome was the specific gene that was studied. When this gene is mutated (present, but not right) it categorized as Pallister-Hall Syndrome. When this gene is missing (not there at all in the seventh chromosome) it is categorized as Greig Cephalo Polysyndactyly Syndrome. Josiah was missing GLI3 ... and more, which put him in a category all to his own. Seriously. The National Institute for Health published a paper in the fall outlining some of the findings from their studies and there is Josiah at the bottom of the chart with the biggest chromosome deletion of every patient on the list.

So, in brief, Josiah was always understood to have Pallister-Hall Syndrome since it explained most of his anomalies, but we now know his genetic makeup was even more precarious than we all thought. He was through and through a miracle child: he should have never developed to full-term alone live a wonderful 2 and ½ years. And while it doesn’t change it anything, this reality helps us appreciate our time with Josiah a little bit more as we come to grips with how much of a gift and a miracle he truly was.

In regards to his autopsy and what triggered his death, there is even more ‘unknowness’. Genetically, Josiah shouldn’t have been living in the first place. His mind shouldn’t have been able to function like it did. At first diagnosis as an infant, moving his fingers was supposed to be outside of his abilities, and yet he was able to do that and so much more.

What Marie and I couldn’t see, is that every time Josiah went through a circumstance where he was deprived of oxygen (his ‘blue spells’ during his first year, seizures ,and sleep apnea), bits of his white matter in the brain were damaged along with neurons responsible for breathing and recovering, losing bit by bit the ability to recover with resuscitation.

We never considered that Josiah’s mind was being damaged after each of these episodes because he never demonstrated a decrease or setback in ability: despite his spells, seizures, and apneas Josiah continued to develop and do new things. His abilities never plateaued or diminished. Yet unbeknown to us, there were layers upon layers of damage in his brain that we couldn’t see.

Ultimately, this lead to the point where he lost the last neuron responsible for instructing the mind to breathe again and it was physically impossible to recover from his last episode.

There was no cause discovered, from the autopsy, as to why Josiah went into distress in the first place on August 2nd. Our nurse that night described that Josiah was responding as if he was in a seizure, but it was unlike anything Josiah had demonstrated before. It was quick, and there was no fight in Josiah, no evidence that he suffered or even tried to recover. When I told the geneticists that it seemed to me like Josiah’s mind had just turned off and that there was no coming back, they agreed that it was the best way to understand the situation.

Sorry to keep many of you waiting so long for this fuller explanation. We haven’t been very consistent in posting new material, and as the nature of this blog has shifted in the past nine months, the urge and desire to post has certainly diminished and taken new meaning.

Thanks for your friendships, your continued prayers, and warm thoughts. It is good not being alone.
- Andrew & Marie