But from everlasting to everlasting the LORD's love is with those who fear him and his righteousness with their children's children . . . Psalm 103:17

Thursday, October 4, 2012

Seth: surfactant deficiency mutation

Hi everyone,

It's taken several hours to process enough to be able to sit down and write this. We know many of you will pray and all of you care, so we want to let you know that Seth has a heterozygous [on one chromosome only, not both] genetic mutation (ABCA3) likely affecting his lungs' ability to properly manufacture surfactant. Surfactant is critical for breathing as it allows the lungs to continue inflating properly. How much of the lung disease is due to surfactant deficiency and how much is due to his prematurity and resulting need for machines and oxygen, we don't know, but it's likely that the genetic mutation is at least exacerbating his condition. An ABCA3 mutation on both chromosomes (homozygous; from mom and dad) is often fatal. However, given that Seth's mutation is only on one chromosome (heterozygous), we don't know where he falls in the spectrum of disease. Is he one of those who will do better and grow lung tissue fast enough to compensate for both the machine/oxygen damage and genetic mutation? Obviously he is producing SOME surfactant, or he would not have survived at all. (As one doc said a couple weeks ago, he would bet Seth did not have a surfactant deficiency mutation because he wasn't sick enough.) Or is he one of the babies who will ultimately lose the battle, despite all the support and treatment the hospital can give him?  We have no way of knowing. We do know Who wrote the book of Seth's life before one of his days came to be, though. (Psalm 139) That doesn't mean this isn't very difficult and sad, especially the thought of how long he could be in the NICU and how painful it will be if there comes a time when we turn off the machines and say goodbye.

Needless to say, I cried a fair amount during the meeting with the neonatologists, neonatal nurse practitioner, and nurses today. My crying can't help Seth, though, and could hurt him (and the other precious babes) because it wears me out! I need to be in "top form" to provide the nourishment and love he and his siblings need, as well as continue to mother Isaac here at home. We will be busier than ever now that we will have a child at Children's Medical Center, others at St. Paul's for a few more weeks, still others coming home soon (Lord willing), plus Isaac. So this is a plea for any additional volunteers, especially those who can commit longterm and those who have experience with nursing. Volunteers, including those who can help keep home from falling down around our ears, will enable us to be with Seth as he grows increasingly aware of his surroundings and needs increasing amounts of interaction with his parents, grandparents and environment and/or as he grows increasingly sick. We're in a wait and see period right now.

Seth still has a PDA and the pulmonary hypertension, but the blood flow through the PDA is the reverse of what they would expect given his pulmonary hypertension, so that's perplexing. He will undergo very extensive imaging tonight or tomorrow morning. They may decide to ligate the PDA despite how risky the surgery would be given his current poor lung condition. They may add another drug to the nitric oxide to ramp up treatment of the pulmonary hypertension. It's the tightrope walk again. We continue to pray for wisdom for the medical staff.

To sum up, in the specialist's words, Seth is very sick and there is a significant possibility that he could die. Not that we didn't already know that, but I guess the possibility is higher than I expected. I like what my mom says: "Either way, Seth wins. He gets to live here, loved and cared for, or he gets to go be with Jesus." (And we will join him one day!) My biggest goal is to make sure he is LOVED and cared for tenderly. He's been getting regular sedative medication, pain medication (although they've been able to wean that down a bit and he's been more alert and tolerating it well), plus "Sweet Ease" sugar solution on his tongue during needle sticks to trick his pain sensors - he loves it!

Thank you for praying. We've never appreciated it more.

To God be the Glory,
Carrie for Gavin, too

Gavin, Carrie, Isaac, Will, David, Marcie, Seth, & Grace Jones

Gavin, Carrie, Isaac, Will, David, Marcie, Seth, & Grace Jones

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