Perhaps the Beginning...

My post on waiting yesterday is very fortuitous in its timing because today I discovered that while I'm waiting and not even devoting one iota of thought to Potter's Syndrome, others are.  Today I found a medical journal article published in February of 2014 in which scientists claim to have identified another gene which may be responsible for BRA (bilateral renal agenesis) which is the condition that affected Wyatt and Eli.

It is from the AJHG (American Journal of Human Genetics), Volume 94, Issue 2, pages 288-294.  Unfortunately I do not have access to the full article but the summary reads, in part,

"The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive. By using a whole-exome sequencing approach in families with several fetuses with bilateral renal agenesis, we identified recessive mutations in the integrin α8-encoding gene ITGA8 in two families. Itga8 homozygous knockout in mice is known to result in absence of kidney development. We provide evidence of a damaging effect of the human ITGA8 mutations. These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease."

If you are into genetics, the OMIM (Online Mendelian Inheritance in Man) entry explaining a little more about this gene can be found here.

Why is this AMAZING news?  Because now there is a gene mutation which has been pinpointed and can be tested within families to see if the mutation exists between the unaffected and affected members of the family.  It may not provide answers for mine, but it might and today "Might" is good enough for me.

Yet Another Thing I Thought I'd Never Say

We got our son's autopsy results today. I am so very thankful I was not alone at that appointment. Eli's chromosomes were 100% normal, just like Wyatt's. Eli was missing both kidneys and his bladder but other than that was completely NORMAL. While we did not have an autopsy for Wyatt that is exactly his diagnosis via multiple ultrasounds. So, we have answers and yet we don't have the most important answers. Why did this happen to us twice? Why both of our sons? As I've always feared, I don't believe we will ever have these answers. Lucky for me, I cannot recall the last time I let fear keep me from pursuing my passion. Lucky for us, my husband is as steely as I am. We still have a few lines in the water as we have not heard from the geneticist yet and it sounds like she may have pursued additional testing which may/may not yield some answers. I won't be holding my breath.