Prayers for Bryce

Oh my gosh!  I just realized that more than half of the last post is no longer there!  I have no idea how that happened.  I am so sad.  It was a long listing of all the amazing blessings that have been happening in our lives over the last few months with Bryce and Annalise and it's gone!  Just makes me want to cry.  Did anybody see the entire post at all?  There was more information about Bryce and some about Annalise.  So frustrated that it is gone!

Anyway, I will have to try to go back and rewrite that later.  For now, I came to let you know what is up with Bryce and Annalise now and ask for some prayers for our little guy.  Annalise ended up at urgent care this past Thursday.  She began running a fever on Wed. and then threw up Thursday morning.  She threw up a few more times throughout the day and by late afternoon was lethargic, pale, unable to speak, and obviously becoming dehydrated.  She has a hard time getting enough fluids in on a daily basis, so when she becomes sick, she gets dehydrated so fast.  The scary thing is that she was in the hospital for the same reason less than 3 weeks ago and needed IV fluids due to dehydration.  That time I believe it was from some of the food she had eaten, this time it was a little stomach flu of some sort.  Luckily this time she did not have to have any IV fluids.  They gave her the Zofran and after waiting for a bit she had a Popsicle.  I was told that if she kept that down, they would let us go home.  If she threw up any more, they would have to send us to the hospital for fluids.  They had us wait for about 20 minutes.  Luckily she kept it down and we were able to go home with strict instructions to take her to the ER if she threw up again!

She was better by Friday although still very cranky, having a tough time with her speech, and took a 4 and a half hour nap.  Obviously she was still working on healing.  Although still a little weak today, she was back to her happy self and able to play and get around a little better!  Thankfully I think we are over the worst of it for now with her.

Bryce now seems to have caught whatever Annalise had.  He began running a fever yesterday morning and not long after lunch, he threw everything up.  The big fear with him is aspiration.  He doesn't have the ability to get everything out and he often aspirates when he throws up which can lead to Pneumonia.  Not long after cleaning him up, I noticed that he was sounding very raspy.  He was able to keep a little bit of coconut water down and slept well.   So this morning, I attempted to give him his water and it all came back up.  A little bit of coconut water is all  that he has been able to handle today.

As for his breathing, he has been struggling today.  I have had to suction him multiple times throughout the day and he has given us a couple of good scares with choking, oxygen levels going low, his heart rate being high, and multiple apnea episodes.  I hate those!  He is sleeping now, but I don't want to have him out of my sight.  We are hoping and praying that he will be able to stay out of the hospital and be home for Easter.   We would be grateful for any extra prayers that we can get.

March 18th
I have neglected the updating of this blog far too long.  Isn't it interesting how life seems to move like a wave.  Sometimes we are up, things are good.  Then it seems to come back down and we struggle.  Then life always goes back to good and the cycle continues.  Sometimes, especially when dealing with medically fragile children, waves of life can change multiple times even within the same day.  Things are changing and I need to document all of the blessings and wonderful things that have been going on before life's waves take a different turn and I forget to record all of the wonderful blessings we have been experiencing over the past few months.

March 25th
Time to get back and let you in on all the great things that have been happening.

Bryce continues to do very well with tolerating his new foods.  In fact, he is doing better than tolerating them, he is thriving!  He did have a little dip in his weight, but that didn't last long and he is back up.  He has made it to 34 pounds!  At his last appointment with Dr. McOmber, Bryce was up in weight and also in height.  Both fantastic things.  The only issue is that since he grew so much (height wise) his Weight to Height ratio actually dropped from 7% to 4% That is important because this is actually how they track Bryce's progress.  It isn't just the weight that matters.  So anyway, not a big deal.  We just upped his calories a bit more and continue to be thrilled that he is growing so well!

The weight is an important measurement to make sure Bryce is getting what he needs from his new diet, but there are many other factors that are making all the time and effort to make and feed a blended diet all worth it.  Bryce has begun to roll over again!  He

She's Coming to our House!

Some exciting news...Wed. morning Marsha Dunn Klein, one of the wonderful ladies that has been helping us as we switch Bryce to a Blended Diet, is coming up from Tucson.  She will be attending our appointment to see Dr. McOmber with us.  This is a huge step in the "blended diet in the phoenix area" story!  

After the appointment, she is coming to our house for a little get together with a few people from this area who are interested in doing a blended diet.  If you are interested in coming or know of someone who is, we will be meeting at 11:00.  Anyone is welcome!  We will be having a little pot luck and question and answer time with her.  I'm super excited about it!  Now just to get my house ready for company!

Rare Disease Day and Genome Sequencing Update

Today is Rare Disease Day. This day is for bringing attention to 7000 known Rare Diseases. There are treatments for only 400 of these 7000 Rare Diseases. 1 in 10 people are affected by Rare Disease 50% of them are children 30% will not live past age 5. Rare Disease is NOT really that "Rare".  

It was interesting to see what some of the people around the world were doing today to help spread awareness.  The idea is to wear "jeans for Genes"  Jacob decided to use a dress down day so that he could wear jeans to school today.  I made this shirt for him last night to go with them.  What a great big brother spreading awareness for his little brother and sister!

Annalise and Bryce spent the day doing therapy.  Between the two of them, 5 hours today!  Then this evening I attended a get together for the Parent's Advisory Committee for TGen's Center for Rare Childhood Disorders with Les and Denise Hauer.  They fed us and then discussed some upcoming plans for the center and some of the amazing work they are currently doing there. It was good to see some of the families we met last time and to meet some new ones.  One of those families that we met was the Belnap family in the video below.  Very nice family.

I was looking forward to seeing Dr. Narayanan and his wife there tonight, but found out through an email from him that he was sick and not able to make it.  In his email though he did give me an update on where they are with the genome sequencing for Bryce and Annalise.  I think at this point I may just be more confused than ever, but at least I know they are working on our DNA.  Here is what Dr. N had to say, 

"I will go through the gigantic spread sheet again, but I believe they have only done exome sequencing on Bryce and Annalise (not you and dad, yet).  They have pinpointed the known SAMHD1 mutation, but not a second mutation. No other mutation in any of the other known genes associated with AGS.
To be done soon:  RNA sequencing on the kids and dad (I will have to see if they are going to do you as well).
I think Szabi was planning on running exome sequencing on both of you sometime soon as well, to look for novel genes.
The RNA sequencing will tell us if there is some problem with control of gene expression from the maternal allele.  They can tell this by comparing RNA sequencing data between the two kids and dad.
I hope to chat with you soon, maybe we can meet one weekend after I have digested all the data."

So there you have it!  You know as much as I do!  :)  I have read and reread this email and through talking with Les and Denise on the way home it has begun to make a bit of sense to me.  Sounds like they found the mutation we knew about, but are doing a little deeper dissecting to see if they can see what is really going on there.   It is so hard to wait, but at least I know they are working on it.  I'll keep you posted.  

Thanks to all our friends who wore Jeans for Genes today!

Life is Fragile

Again it has been a very rough weekend for our Leukodystrophy family.  Three more children earned their angel wings yesterday and many others are struggling hard right now.  Many, many prayers are going up to the families of all of these children.

I haven't posted much about Bryce and Annalise lately.   Many of you have asked me about them and are interested in how they are doing.  Thank you for caring about our family.  Thank you for your thoughts and prayers!  I will start by saying that overall they are doing great.  Bryce has even begun doing some things that he hasn't done since 2008!  Virtually unheard of with Leukodystrophy!  Annalise, although still quite weak, is again able to cruise around for short periods of time in her walker!  

I'm sorry that I have not posted more and I will do better with that.  It may sound strange, but it is hard to write about how well they are doing right now knowing that so many children with Leukodystrophy are struggling and/or losing their battles with this horrid disease.   It has been a very difficult year for the Leukodystrophy community.  I feel almost guilty that my children are doing well.  Even as I write this, I know it may sound stupid to feel guilty that my children are doing well, but being in this situation brings out some very strange feelings and thoughts.  Often ones that I am not even able to verbally explain.  I'm pretty sure that those who have been/are in the same situation as we are can understand what I am talking about.    

 Don't get me wrong, I am so, so very thankful that Bryce and Annalise are having one of their best years so far since their regression began.  I don't fully understand it, but I will take it as long as we have it!  It's just such a strange place to be in...finding such joy in how well Bryce and Annalise are doing, being so grateful for the blessings we are receiving at this time, feeling the pain of the other families, and fearing what tomorrow may bring.  Realizing that although my kids are doing well today, the possibility that one of them could catch a cold or something tomorrow and not be able to fight it off is still so very real.    It is completely in the hands of the Lord.  That does bring peace, yet I am still human and I still fear.  I'm working on that.  I am so thankful for every second of every day that I have with each one of my children.  Life is so fragile, not one moment should be taken for granted!

Fly High Sweet Gummy!

Just less than a year ago I wrote this post.  My feelings are the same tonight, with an added sorrow attached to them.  Since the time of this post, two of my very most dear friends have lost their children.  First Ryder on Aug. 22nd. and tonight at 6:30 Montgomery (Gummy) returned to live with his father in Heaven.  Gummy is the Maughan's fourth child to have left this earth much too soon.  You fought an amazing fight, Gummy!  I'm praying that you are having a wonderful reunion with your brother, sisters, and friends who are there with you.  Your mom, dad, brother, and sisters still here are in our prayers.  I look forward to the time that we will see you again!

Sequencing complete

Wow, two months without posting.  I am so sorry.  So much has been happening. Bryce and Annalise are both doing well overall.  I will return soon to give everyone a full report on what Bryce and Annalise have been up to, but for now I wanted to share with you some news we received this evening.   It came by email from Dr. Narayanan.  It said, "The entire family's samples just came off the sequencer and are in analysis now. I'll see the data next week.
Will keep you posted.'

I knew Bryce's was in the process of being sequenced, but didn't realize they had begun the rest of ours.  It is now being analysed!  Oh my...after 4 and a half years of searching, we may have answers soon.  This is both exciting and terrifying to me all at the same time.