Thursday, July 30, 2015

Signed, Sealed and Delivered

Yesterday went well.. Ian has been delivered to Camp Simcha Special, along with his counselor Danny. They are ready for 10 days of unbelievable fun. 

Ian's arrival, yes he is in the middle of all the boys.
Ian's cabin...Fort Simcha, also known as B1.

Just one view of the van as we were leaving. We even had some of Ian's medical supplies go up to camp in Wednesday with Gila, one of the camp nurses. Thanks Gila..we couldn't have done it without you. 

More of Ian's arrival.
Danny and Ian when we first got to camp and out of the van after our 5 hour drive. 
One more from Ian's arrival... Now how happy does he look. Have a great 10 days little man you deserve it. Mommy, daddy and Becca love you. 

Monday, July 27, 2015

The Most Wonderful Place on Earth

The most wonderful place on earth...we all have one, what's yours? Ian's is Camp Simcha Special...the most wonderful place on earth...where he has had some of the times of his life and will have the time of his life starting Thursday, July 30th for 10 wonderful days. Imagine 6 months after bringing Ian home from the hospital trached and vented, sending him to sleep away camp...well that is exactly what we did the summer of 2013. He went back the summer of 2014 and will be going back for 2k15 summer as well.

Imagine a summer camp where you can be medical frail, critical ill and still go all the things you imagined doing at sleep away camp. It is a unique opportunity for children fighting chronic illness to build a community of people with whom to share hopes and dreams as they grow. From baseball to photography and videography, arts and crafts to boating, swimming to rocketry, talent shows to Color War, campers follow their interests and develop new skills in an environment created with them in mind. Each camper has his or her own trained counselor, a guide and special friend who ensures that every minute of camp life exceeds expectations. As a result, Camp Simcha Special is a place where “I can’t” is replaced by “Wow! That was fun!”  

For the past week or so, Ian wakes up with the question "Is today the day I  go to camp?" I tell him know and how many more days until he goes. Imagine his face when Thursday morning I tell him yes...going to be priceless. 

Sunday, July 26, 2015

SMA and PCH - A rough weekend

Saturday, July 25, 2015 was a rough one for my SMA and PCH families. Each one lost a child. 

As I sit here and watch Ian watch TV, I can only imagine what they are going through, knowing one day our turn will come. As for now, I will try to remember to be thankful and grateful for the days and years we have had and still have in front of us. 

May the families and communities who have lost, find comfort in their children being painfree and flying high.

Rest easy little ones.

Wednesday, July 22, 2015


Yesterday afternoon, Ian had a visit from 3 of the Chai Lifeline girls. They brought cupcakes to decorate...Ian had a blast...loved helping them and telling them what to do on them. 

They also brought him a gift from Tzvi and the whole Chai Lifeline is a photo copy of his after surgery x-ray, turning the hardware into spiderwebs...inscribed with the following: "Dear Ian, like I always said, you're a superhero inside and out!" Tzvi Haber and the entire Chai Lifeline Family

It was truly a sweet visit.

Monday, July 20, 2015

One Down - One to Go

Up bright and early this morning, Brian, Becca and I were off to Camp Louise. It was great to get Becca back there and she felt the same way
As we were walking up the HILL, she said to me..."It is good to be back!"
All went well with drop off, she is with all of her friends from last summer. Seeing all the girls excited to see each other and give hugs was great. 

Thinking....about what...not sure I want to know.
Becca and Erica...ready for a fun 3 weeks.
When we got home from taking Becca, Ian was excited because now he knows we can focus on getting him ready for Camp Simcha Special. 

Pre-camp hair cut....ready to go...come on July 30th, what are you waiting for.

Wednesday, July 15, 2015

Follow - MD Appointments

This week has been a week of doctors appointments for our family.

On Tuesday night, Brian took Joey, our dog, to the vet for her yearly appointment. One never knows what to expect when you take a 17 year old dog to the doctors. We were all a little anxious especially the kids. Well, the doctor was shocked when she saw Joeys birth year of 1998. Brian said she did a double take and he had to finish her sentence when she said, well Joey you are...OLD. Blood work was done just because you never know what is going on inside. Pending those results we have a happy healthy OLD dog. We actually spoke with the vet this morning and all is good....just an OLD dog.

Wednesday was Ian's turn for a follow-up. For him it was the pulmonary doctor. Over all things are looking ok. Ian has some trouble with his in-line humidification system..we decided to get a few different ones from the respiratory therapist to see what we could do. An hour into being out and about, we started to see his signs of not tolerating the in-line humidification system...labored breathing, blotchy red coloring in the face, extreme dryness...As much as I hate seeing Ian like this, I have to say I was glad it was happening at the MD office...with them seeing it, easier to trouble shoot. So trouble shooting we did, one of the concerns the MD had was that Ian could only tolerate the HME for an hour before starting to have problems...she had patients who could go hours but not handle a whole day, never just an hour. Our home respiratory therapists was also there and she said that one thing she was thinking was because Ian can't regulate his body temperature he can't hold any of the moisture in his body as well which is needed to produce the humidity for the HME. This struck a thought....maybe it was in the actual circuit of the vent not in the HME...the HME provides a little bit more resistance then being on the home humidification system...that extra resistance could be the reason Ian is having problems. So it was decided to increase his vent settings, his pressure support and pressure controls to be exact. His previous settings were his original ones from when he went on the vent in March 2013...and they were low settings. So the MD said that we were also trying to have "baby" settings on an "adult" child. So settings have been increased...and now we try him on the HME a few times at home to see how he does. According to the MD, we still have room to go up if we need to. 

This morning was a drive to Dupont to check in with the 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 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

Happy July 4th

Happy 4th of July.

It seems we got a head of the cold and the cold lost. Ian seems to be doing better minus needing oxygen because of the humidity. Ian says he feels better and has even been fussing at everyone... So we know he's on the mend.

Thursday, July 2, 2015

Another Year...6 Years....3 Years

It hit me this is July 2nd...July 4th weekend...6 years ago it all least the major disease progression...3 years ago...we got a call from our geneticists setting up a conference call for later that day...a day that would confirm some of what we already knew, a day when hearing 3 letters and 1 number would change our lives more then they had already been changed. We have a diagnosis, we have never gotten a whole exome sequencing back this clean...Ian has VRK1 (PCH1A). 

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 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 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 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.