Tuesday, September 16, 2014

Swallowing Study

VRK1, PCH1A or Spinal Muscular Atrophy with Pontocerebella Hypoplasia... does it really matter what you want to call it, the disease is still a progressive motor neuron one.  Affected are the voluntary muscles used for crawling, walking, head and neck control, and swallowing (SMA) along with an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. In addition, a region of the brain called the pons also fails to develop properly. 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.

So knowing all of this monitoring everything is important. We already know the muscles used for crawling, walking, head and neck control have been affected and no longer work. Knowing what we do, means keeping a close eye on the muscles used for swallowong. To monitor this, Ian has had numerous swallowing studies over the years, with the last one over a year ago. We decided it was time to check it out...so today was the day.

We were presently surprised it went well, everything went down smoothly and quickly as it should. They did not see any signs of muscle weakness based on how the food was traveling or any signs of aspiration. As long as we don't see anything concerning we are good for a year. Ian gets to continue eating and drinking by mouth ...woo hoo.

Wednesday, September 10, 2014

September 10, 2002 - The Beginning of Our Journey to Parenthood

It is hard to believe that 12 years ago today, our journey began and what a journey it has been. Implantation, bed rest, confirmation of pregnancy, complications, more bed rest, preemies, NICU (2 different hospitals). It is not the journey we thought we would have taken to become parents but it was our journey. Maybe we should have known nothing about the rest of our journey would be the way we envisioned it, just from the way it started. I see all the pictures on Facebook and Instagram from friends sitting at soccer fields, playing catch with their kids, doing all sorts of things, we loved being able to see them and share them with you. There is a part of me that wants to be able to do that, there is part of me that loves what I have. I read about friends going out on dates with their spouses, finding babysitters easily, there is more a part of me that really wishes I have that, but then I take moments like right now when I am sitting on the sofa watching Brian build a Lego with Ian, knowing the wonderful bonding moment they are having. Sitting here, part of me is thinking about where our journey started and the road we have taken to get where we are and where we will be one day. When we started and found out we were expecting twins, I never thought my family of four would one day become a family of three...not the way we one day will..so for now I will continue to see all the photos and status updates of friends, all the while continuing my families journey and treasuring it each and every day.

Monday, September 1, 2014


The head counselor from Camp Simcha Special Boys posted this on his Facebook status:
Faith is knowing when to act and when to accept...learning to act on what you should not accept and learn to accept on what you should not act on.
This got me to think about a question so many ask in one way or another....how do you do it? For me/us, it is about taking care of our children. Oh trust me/us it is not how we imagined it to be. Being angry all the time is only going to hurt each other and the kids. We want to give our kids the best we can, making the best memories we can and treasuring each moment. This is our life, it may not be easy all the time...heck most of the time it is not easy, but its our life. It has taken both Brian and I a long time to accept that this is our life and the prognosis of Ian's disease...I never quite looked at it as faith.

Friday, August 29, 2014


Becca's first few days of middle school were great. She said it was good, fun and HOT. I guess that is what happens when you go from a school with AC to one that does not have it in the whole building. From what has come home from the teachers, it should be a good year. She has made a few new friends and seen some of her old ones from Chatsworth. We were proactive before school started and got in touch with the guidance counselor as well as I sent an email to her teachers so they would be aware of our family situation. We felt that it was important for them to know, especially when Ian ended up in the hospital 2 weeks before school started and we weren't sure when he would be home. I was afraid that he would still be in the hospital on the 1st day of school and how she would handle it. We are looking forward to FMS becoming a part of our village. 

Ian's appointment with pulmonary on Wednesday was OK. She made a few changes in his treatments, mainly his mid-day ones. This will hopefully help with some of plugs and thicker secretions he has been having. Another reason he could be getting the plugs and thicker secretions is due to his water intake, if you don't drink enough (or in his case drink enough and get enough extra in the G-tube) then you will be dry. His pulmologist is going to get in touch with his GI doctor to figure out how much water he should be getting. We have a few other options we can do if this does not work. After taking a listen to Ian, Dr. Sterni said that he sounded good but he was not moving much air on his own with out the vent. This was not really a surprise as we knew we would come to this point and my guess is last week did not help this much.

As Ian's appointment was on Wednesday and so was the 1st day of school, he had his 1st day of school on Thursday. He had a great 1st and 2nd day...seeing all of his friends he had not seen since the last day of school last year. Seeing his teacher...and all the other staff at school who he has seen for the past 6 years. It is hard to believe that at the end of this year, it will bring to an end 7 years of us being at Chatsworth. We are looking forward to another year there and Ian have a great 5th grade year. 

I was reading a blog of an acquaintance and some wonderful words of his....the challenge is to savor the moment, and at the very least - to pay attention - because time takes no prisoners, accepts no bribes and if given the chance will rob you of every last opportunity for awareness, if you don't take the time to step up and be present. I know, because it's always a work in progress for me. Sometimes it seems life gets in the way of living - if that makes sense - and the great challenge is to heed the call, and never forget the passage of time is calling to you to stop, look, listen and engage because while we don't think we are - or our kids are - I have photographic proof and most likely you do too - we are livin' in fast forward. And I'd love to rewind real slow....thanks Mark Brodinsky.

Sunday, August 24, 2014

Home with a Busy Week Ahead

Ian has been home for a few days and has been doing well. We have had a few desats with plugs but once we got them out it has been smooth sailing. 

This week is busy...Ian has a pulmonary appointment, we are seeing a new one because our other one moved away. He was supposed to see her last week but being in the hospital sort of made that difficult. We are looking to get a swallowing study scheduled to make sure Ian has not had any changes there. 

Wednesday marks the beginning of school...Becca will be starting middle school, we are nervous, anxious, excited and everything that comes along with it. We are looking forward to a new school, new teachers, new friends...as well as seeing our old friends. Ian has his last year at Chatsworth, it is bitter sweet, at the end of this year, 7 years will come to a close there...they have been a wonderful family to us...seen our family thru so much over the 6 years...he will miss the 1st day of school because of the pulmonary appointment but you do what you have to do.

Here is to a wonderful 2014-2015 school year.

Wednesday, August 20, 2014

Wednesday, August 20th

Well last night and today went the way we all planned it...at 4:30, after playing bingo Ian was discharged from the hospital. ..thank you to everyone for all the support, visits, taking care of Becca and everything else to get us through.

Tuesday, August 19, 2014

Tuesday, August 19th, Day 6

LLast night went well. Everyone slept, well for the most part, it took all of us a little bit to get to sleep. Rounds this morning went as we expected...they are decreasing his pressure support back to 6 (this is his baseline and will make all of his vent settings back to baseline). He will get his trache changed from the cuffed one they had to put in last week to his regular uncuffed one. This will put everything back to normal and he will be back to baseline with everything. The hospital will begin making plans for discharge which we are looking at for tomorrow. So the day has gone as planned and a good night will ensure discharge tomorrow. 

I have done a lot of thinking lately about how it is for Ian living with his disease. To try to understand his frustration as I know we get frustrated with it...I came across a blog a wife wrote about her husband living with ALS...as living with any form of SMA is just like it. 

What is it like to live with ALS? 
 It’s a brave question because the answers are not very pleasant. But it’s also such a worthy question because understanding how this disease impacts those who suffer from it creates empathy which is so valuable; it carries us into another person’s world and allows us to understand what they’re feeling and how they’re hurting. As caregivers watch their loved ones struggle with things that used to be easy and automatic, or as we watch others do those things sometimes I wish that everyone could see life from his perspective.

If you would like to experience just a tiny corner of an ALS life, I have a list of empathetic experiences for you. These are things you can do to walk for just a mile in ALS shoes. If you try one, take a little time at the end to consider that people actually living with the disease have a million miles more to go.

    1. Pick up a 10-pound weight. Now imagine it’s your fork and move it from your plate to your mouth repeatedly without shaking.
    2. Sit in a chair for just 15 minutes moving nothing but your eyes. Nothing. No speaking, no scratching your nose, no shifting your weight, no changing the channel on the television, no computer work. Only your eyes. As you sit, imagine: this is your life. Your only life.
    3. Borrow a wheelchair or power scooter and try to maneuver quickly through the aisles at Walmart, without speaking. Note the way people react to you.
    4. Strap 25 pounds to your forearm. Now, adjust your rearview mirror.
    5. Using none of your own muscles, have your spouse or child or friend get you dressed and brush your teeth. Write down some of the feelings you have being cared for in this way.
    6. Before you eat your next meal, take a good, long look at the food. Inhale deeply and appreciate the aroma. Now, imagine never being able to taste that – or any other food – for the rest of your life.
    7. Put two large marshmallows in your mouth and have a conversation with your friends. How many times must you repeat yourself? How does this make you feel?
    8. Go to bed and stay in one position for as long as you possibly can, moving nothing.
    9. Strap weights to your ankles and climb a flight of stairs, taking two at a time. That’s the kind of strength it takes for someone with ALS to tackle the stairs on a good day.
    10. Install a text-to-speech app on your phone or iPad and use it exclusively to communicate for one day. 
+This post originally appeared at bostern.comWe welcome your comments atideas@qz.com.
Take a look compare SMA and ALS...it really is amazing.