Monday, October 28, 2013

Our Crusade

Will you join in our crusade? Who will be strong and stand with me? Somewhere beyond the barricade is there a world you long to see? Do you hear the people sing? Say, do you hear the distant drums? It is the future that they bring when tomorrow comes!
Les Miserables

Brian and I went to see Les Miserables for our anniversary earlier in the month, the above words hit me hard..I put them in the blog and just left them there. This past weekend we were at a family Bat Mitzvah...(Becca did great). I realized just a little bit more that my crusade is: to continue educating, awareness, making sure others don't go thru what we have gone thru to find out what is wrong with their loved ones. We spent sometime with family members we have not seen in a while, until Saturday, it did not hit me...they should be tested as well. Brian and I don't know if our mothers or fathers or both are carriers of the mutation, therefore, not knowing who should be anyone related to us, should be tested. 

Education and awareness, talking about it, being open, answering questions, that is just one way it to bring the barricade down. No longer being undiagnosed means much more then I realized it does. Knowing what is slowly taking our little boy away from us has been answered but now others will also know what it is. Realizing how many more people are potentially affected by this, our families, anyone in our bloodline can get tested to see if they are a carrier of the VRK1 mutation. So, if and when you want to know, please don't hesitate to get in touch with us. 


Wednesday, October 23, 2013

We Are Published....

Please read this will be over most of your heads...however, Ian is the 9-year-old boy in the article. Hoping some new families come out .... a very special thanks to Lelia Jamal and Dr. Raymond...we would not be where we are without either one of you.

Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

Monday, October 21, 2013

Saturday/Sunday October 19th/20th

All is good. Saturday and Saturday night, were both great for Ian. He maintained his levels all day and only desated 2 times but recovered quickly without any intervention from nurses.

Becca spent the day with friends at Hershey Park in the Dark (this was already planned before Ian ended up in the hospital) and had a great time....thank you Thomas's for taking her.

Thank you to my parents, Nana and Pop, for canceling their plans on Saturday night to sit with Ian in the hospital so Brian and I could go out for our 15th Anniversary. It was nice to be out and know Ian and Becca were in good my best friend...I love you and am looking forward to more of our journey, for the next 15 and 15 and 15 years.

Ian came home on Sunday...yea....home sweet home, last night was a good night with only desating once with a quick recover without any interventions from his nurse. Today he is hanging at home, taking it easy. I am waiting to speak with the peditrician to know what our next steps are with treatment plans and when he can go back to school.

Thank you to everyone for their love and support over the last week....and thank g-d it was a short and easy stay at Hopkins.

Saturday, October 19, 2013

Still doing well...

Night was fair.  Ian had some dips but recovered on his own. After talking with the MD, we all decided to stay one more night to make sure we are headed where we think we are in the right direction. It does appear that when Ian started antibiotics a little over a week ago for an infection he was only put on a 7 day course and that was not enough.  So we are on another 7 day course ... so we are spending the day watching movies and recovering some more.

Thank you all for the love and support.

Friday, October 18, 2013

Doing well...

Ian is doing well. He was on oxygen last night, but has been off since 10 this morning.  Still getting IV antibiotics ....the preliminary results for viruses are negative.  There are signs of possible infection so waiting for the rest of those results to come back. As long as we have a good night they are talking about possible discharge tomorrow.  We are all in good spirits ...

Remember treasure yesterday,  dream of tomorrow but live for today.

Thursday, October 17, 2013

We're back...10 North that is

Well we have spent the day in the ED and now have been moved to a room ...4 times over the past week and a half he has been d-sating at night. Along with increased secretions ... so after being evaluated, some blood work, chest X-ray. Blood work looks good, so does the chest X-ray, it was decided that they would admit him to the floor to see why he is d-sating at night. Look at the cool sign in his room...we are off to get a good night sleep...

Sunday, October 13, 2013

It's Just About Life

Thank you Mark for the wonderful work you to in inspiring others, for putting into writing the words I have not been able to. As you say, It's Just About Life...Until Next Time.

Friday, October 4, 2013

The Invisible String ... Love

Honestly, I don't remember how the conversation began...but I do remember things that were said and the meaning behind them. The four of us were getting ready to have a family game night. Ian got upset because he was missing Bullet, his hamster. Becca was the first one to console him, telling him that it was okay, Bullet was in a good place. He was happy in Heaven running around with all of his hamster friends. She proceeded to tell Ian that he will see Bullet again when they are both in Heaven, when someone or something goes to heaven, we will see them again when we get there. Really, how old is she. He calmed down after that, Brian and I really did not have to say anything, she took care of her

Downstairs Becca went to get the game we were going to play...of course I came up with a reason to go down also. I had her sit down with me and ask her if she was okay. She said yes but started to cry. Then I asked her what she thought was going to happen with Ian, "what do you mean mommy", she asked. With his disease, I answered. Becca said, he is going to live a long time, and then the tears started rolling. Are you sure, I asked. This is where she got me...mommy I don't like to think about the future. I like to live in the here and now. Why do you think I like having family moving nights and game so often. The tears were still rolling. The here and the now is good and so is living one day at a time mommy as I don't feel like I am going to be a twin for a lot longer....

What I did not tell her and will the next time something comes up is that she will always be a twin. Just as we have told both kids regarding death, you always have the person in your heart so they are always with you.  We will have to sit and re-read the book The Invisible String again. This book deals with children's fear of being apart from the ones they love, that though we may be separated from the ones we care for, whether through anger, or distance or even death, love is the unending connection that binds us all, and by extension, ultimately binds every person on the planet to everyone else...

Week of Follow-Up MD apppointments

Well when they come, they come...follow-up doctors appointments that is. On Wednesday, Ian got to see his cardiologists...and believe it or not, this MD has nothing to do with the VKR1 mutation. At this point, there is no indication that SMA and cardiac issues are related...part of me feels this is not possible however, with the little bit that is known about VRK1 and is what it is. You have to go with the information you at hand and make the best decisions you can with that information. So why does he see a cardiologists...a heart murmur.... ECHO and EKG done, all looked good, no changes from last year. Ian's blood pressure was elevated but that is actually normal when he is seeing MD's, after a little bit, they rechecked it again and it was down. The kicker with this MD appointment is that when all was said and done, it was time to 1:15pm when the appointment was at 9:30, but no they could not leave...Ian HAD to see pictures of this heart. So we hold steady where we are and go back in a year.

On Thursday, we had two appointments, one with the GI MD and the other with Pulmonary. Ian's GI appointment went well. He has been off of his steroids for about 2 months as well as off the extra supplements thru his g-tube for about 2.5 months, he has maintained his weight. Although we were hoping he would lose some weight we will take the fact that he has not gained anything as a good thing. Dr. K changed the multi--vitamins he is taking to give him some more minerals. Per his 3-day food journal, his only getting about 800 calories, for most that is not healthy but it appears for Ian it is. So we hold steady where we are and go back in 2 months to monitor his weight. 

Pulmonary went with his other 2 appointments, Ian is holding his own. We were not able to get his CO2 level as the machine was not working correctly. Dr. M felt okay checking his O2 level, which we check at home as was 98 while we were there. He ordered a sleep study which will help to determine if his vent settings need to be changed and give him a "tune-up". He took a mucus sample just to make sure all is good...and will let us know if anything is brewing. Besides that and going back to see him in 3 months all is good. To end the appointment Ian got to see some of his xrays which were in the system of his lungs and spine. Inquiring Ian's want to know...

So Ian is holding his own, continuing to give us joy and happiness just as is Becca.

Remember....treasure yesterday, dream of tomorrow but live for today.

Thursday, October 3, 2013

Treasure Yesterday, Dream of Tomorrow, but Live for Today

My facebook post last night....I HATE VRK1...what do you tell your child as they cry to you that they are disappointed in their body...Fxck it.

Last night we had a heartfelt and difficult conversation with Ian. He was in bed, I was finishing up his nightly routine, his face told it all...he as down. I asked him what was wrong, he said he was disappointed in his body and he wanted to walk again. My heart felt. I proceeded to ask him what else was going on, he just kept repeating how disappointed he was in his body. Ian told me he wanted to talk with Brian as well so in came daddy. Ian told us both how disappointed he was, we asked him if he wanted to continue to fight, he said yes. At the same time we told him that when he was ready to stop fighting that was okay. We reminded him that he can do anything he wants with the hands and legs of others. We asked him if that was okay, he said sometimes and other times it was hard not to be able to do what he wants for himself. Told him that we understood as best as we could. It took some time but we got thru it, at the end of our conversation, Ian told both Brian and I that when we were ready to give up and not fight anymore, it was okay. 

Thank you to everyone for your words of encouragement and support last night on my post. Remember: treasure yesterday, dream of tomorrow but live for today.

Tuesday, October 1, 2013

Gilchrist Kids

Having a child brings happiness and challenges, having a child with special needs brings happiness and different challenges, having a child with a life threatening disease brings yet more happiness and different challenges...we have faced many of these over the years. When Ian came home from the hospital, in March, we started with many new services, one of them being Gilchrist Kids. Their goal is to help any child "live well" during their last days (regardless of how many days that is) and to provide their loved ones with the support they need during their most difficult time. By providing relief from physical, emotional, social, and spiritual suffering, they enhance the quality of life for seriously ill children and their families. 

Back in January/February, when we were deciding to trache or not to trache, Brian and I said we did not want Ian to just lay around being hooked up to a machine. With the help of Gilchrist and everyone else in our village, we are making many more memories along our journey. 

This article was in the Gilchrist 2013 Year in Review which was just released. 

Below is the article for easier reading:

By the time Ian Scher came home from a 10-week hospital stay in March, he had lost most of the use of his limbs and was dependent on a ventilator to help him breathe. But that didn't mean he'd lost the desire to be as typical a 10-year-old boy as he could.

Within a month, he was back at school and finding new ways to do all of the things that a rare degenerative neuromuscular condition had robbed him of doing.

Instead of pressing the buttons on his video games, he directed others, including his Gilchrist Kids volunteer and Child Life Specialist. He built Lego sets using the hands of family and friends for the actual construction - after he'd figured out where to put the pieces. 

As summer rolled around, he found himself with almost as packed a schedule as his twin sister, Becca. He went to several camps, including a sleepover camp for medically fragile children. And on August 17, he threw out the first pitch at a Baltimore Orioles game; his father, Brian, was with him on the field to make the actual throw.

Through it all, his parents, Marci and Brian, have relied on the support and guidance of the Gilchrist Kids team to help keep Ian out of the hospital and to help them talk through important decisions about his care. Ultimately, watching Ian continue to be able to do the things he loves is validation that they have made the right choices in his care.

"Ian wants to do as much as possible. We know he's still getting a lot of joy."
Brian Scher, Ian's father