Thursday, July 30, 2015
Monday, July 27, 2015
Sunday, July 26, 2015
Wednesday, July 22, 2015
Monday, July 20, 2015
|Thinking....about what...not sure I want to know.|
|Becca and Erica...ready for a fun 3 weeks.|
|Pre-camp hair cut....ready to go...come on July 30th, what are you waiting for.|
Wednesday, July 15, 2015
This morning was a drive to Dupont to check in with the orthopedic...it was a great visit. The x-rays looked fantastic. You are able to actually see some of the bones fusing. All the hardware is still in place, and his wound looks beautiful. Making the decision to have the surgery was one of the hardests we have had to make in dealing with PCH1A... We have seen an incredible outcome... Less pain, more comfortable, a small increase in lung capacity and the ability to sit longer. We could not be happier with the outcomes.
Saturday, July 11, 2015
The Bob Marley Quote I'd Go Back and Tell Myself When My Daughter Was Diagnosed....by Terra Atkinson
.I read this article on the Mighty and had to share....
I have a few friends who are expecting babies soon. Each of them are having different issues with their pregnancies, and a few of them even asked me for advice or words of wisdom. (Apparently, I look like I know what I'm doing on the outside these days. Who knew?) As I thought about how I would answer each of them, I realize there were certain things I would go back and tell myself before we started this journey with my daughter, Kendall, who has mitochondrial disease. I questioned if I would really want to know, ahead of time, everything that we would go through.
Would I go back and tell myself to watch out for everything that was coming up, that bend in the road or that shoulder you think you can pull over and rest on but gives way? Would I go way, way back and tell that punk sitting in her physiology class to pay more attention during the Krebs cycle part of the curriculum because someday you'll wish you understood what a geneticist was trying to explain to you about your daughters metabolic defect? I don't know what it would change. Because life has this funny way of taking you on a ride that ends up being far different from whatever you imagined when you got behind the driver's wheel. Even if you have programmed your GPS to plan out your route and accommodate traffic, you'll still be shocked and surprised at where you end up in life.
So I think I would just tell myself this: Everything will be all right. Just like the lyrics of the Bob Marley song. Someday you'll sing that to your baby girl as she lays struggling to breath. EVERYTHING'S GONNA BE ALL RIGHT. (I say WE GOT THIS!)
But it won't feel like things will be all right for many days. You'll spend long hours wondering how exactly this is all going to turn out right when it all feels very wrong. You'll learn to stop counting time in weeks or days. Instead, you'll learn to take things hour by hour and minute by minute. You'll learn that being "all right" will change in meaning. What you once thought of as being good or OK will suddenly be a pipe dream, and you'll settle for things that would have once shocked you.
You'll learn a whole new vocabulary. But this is OK, because you have always loved words and meanings and using big words just to watch people's faces. This trait will come in handy someday when you are schooling medical students and residents (who you will take to calling "baby doctors" or "doclings") about how to pay attention to your baby's labs, vitals and painful screams. Words like thrombocytopenia and electroencephalogram will one day roll off your tongue as smoothly as the swear words you'll find yourself dropping far more often. While you have always hated numbers and math, you'll have this sudden capacity to store two months worth of CBC values in your head so you can glance at your child's lab results and know instantly whether she is getting an infection.
You'll have a range of emotions far wider than you ever thought possible. You'll watch friends have to pick out pint-size caskets for their angels who left this earth too soon and you'll beg with every fiber of your being yo G-d that you never have to make that choice. But you known, in some dark hidden place that you rarely go to in your soul, that you might. And you know no matter what, you will be all right. You'll watch those same friends handle the loss of their baby with such grace and strength and see them rise from the ashes of broken dreams and broken hearts. You'll find within yourself the strength to keep going. Somehow, some way. Because if they can do it, you can do it.
You will change in many small ways and in a few big ways, too. The changes will be imperceptible at first. Then they'll sneak up on you like the dark of night slowly creeps into a long summer evening. You'll wake up one day as the mother of a babu with "medical complexities" and realize that you can do this. You can do this no matter what. You will feel pain you have never thought possible and feel joy that seems unreal. You will question every day if you can keep doing this.
But then you will see your beautiful baby. You won't see the tubes and wires coming out of nearly every possible place on their little bodies. You'll see their daddy's eyes, your nose and your mom's hands. You'll see them for their beauty, their strength and their amazingness. You'll know that every minute is precious, even those minutes in the middle of the night when you are troubleshooting an IV pump that has a mind of it's own. Hold onto them. Don't regret them. Never regret the choices you make or the chance you took to give your child the best shot at life they could have.
You will be OK. In the end, everything's gonna be all right. WE GOT THIS
Saturday, July 4, 2015
Thursday, July 2, 2015
So many things have changed since major disease progression has set in as well as getting an official diagnosis...some in ways we imagined and some in ways we could never have imagined. I want to take the time to re-educate...to our knowledge Ian is now one of 6 diagnosed kids with VRK1, he has been published in a few medical journals (hopefully through these other publication others with VRK1 will arise). There is still not much know about VRK1 (PCH1A), so we continue to take it one day at a time.
VRK1 appears to be important for the survival of motor neurons (responsible for movement) and for the development and maintenance of a structure in the brain called the cerebellum. Spinal Muscular Atrophy [SMA] with Pontocerebellar Hypoplasia [PCH] Is Caused by a Mutation in the VRK1 Gene...at this time due to the rarity of VRK1; its role in processing and transmitting information by electrical and chemical signaling is very limited. To sum it up Ian has a progressive motor neuron disease which affects the voluntary muscles that are used for crawling, walking, head and neck control, and swallowing (SMA) along with an unusually small and underdeveloped cerebellum, the part of the brain at the back of the skull in vertebrates, which is the part of the brain that coordinates and regulates muscular activity.In addition, a region of the brain called the pons also fails to develop properly (PCH). The pons help to transmit signals from the cerebellum to the rest of the brain. Ian does not have SMA or PCH, but these two rare diseases are used to describe two clusters of symptoms caused by the alteration VRK1.
Most days, Brian, Becca, Ian and I, just go with the flow...take it as it comes, cherishing each moment, trying to remember what is important, EACH OTHER, all the while knowing that things can change in a second. We have seen it happen many times over the years, however, based on decision Brian and I have made we know that each time there is a change, we are closer to Ian being pain free and at peace. Our decisions have brought us peace.
Sometime yesterday, Ian started to not feel good....you could tell he was fighting something. Tired, runny nose, possible fever (that is hard to know for sure since he can't regulate his body temperature and never really runs one), complexion pale. He slept well last night and woke up looking better but still saying he was not feeling better. We are keeping a very close eye on him, increasing his respiratory treatments, giving him something for possible fever and trying to get him to take naps. We will continue to cherish our moments.
Remember to treasure yesterday, dream of tomorrow but live for today.