May the road rise up to meet you. May the wind always be at your back.
May the sun shine warm upon your face, and rains fall soft upon your fields.
And until we meet again, May God hold you in the palm of His hand.
-Irish Blessing

Tuesday, May 6, 2014

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.

1 comment:

  1. I think I read something about that when I was doing some research for my stillbirthday doula class. I remember thinking about you while I was reading all of that stuff.



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