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.   

Blended Diet Continues

Tuesday, Bryce and I made another trip down to Tucson to meet with Marsha Dunn Klein, OTR/L and Ellen Duperret, RD. This was our third visit and the first one since beginning to feed Bryce real food through the tube.  It had been 6 weeks since our last visit.  The first month we focused on getting Bryce off of his night feedings.  That went well, so this past 6 weeks we have gradually transitioned his evening meal from formula to "real food" blended together and given through his g-tube. 

Bryce with Marsha.  A special bond has already formed between these two wonderful people.  

Some pretty amazing things have begun to happen in just 6 short weeks of eating a bit of real food.  First of all within a 6 week period Bryce gained 1 lb. 8 oz!  He is finally, once again, back on the growth chart.  Barely...but he is there!  He hasn't been there since he was two years old!   We were all very excited about that!  

Bryce enjoying his dinner of chicken, peas, squash, coconut oil, and a bit of water. 

Some of the other things I and others who work with Bryce have noticed since making changes to his diet include: 

1. He seems to be more alert, aware, and involved in what is going on around him.  One of his physical therapists today described it as him being more "present" in the world around him.

2.  He has had the healthiest November that he has had since becoming sick in July 2008.  I'm a little nervous to say that with a few days of November left, but so far, considering this is a month which I have come to fear and dread, he has done amazingly well.  The true test will be to see how January/February go.

3.  He gags less, has less reflux issues, and has good, regular bowel movements. He is also willing and wanting to taste more and more foods by mouth.  This first started when I began giving him green smoothies, but over the past month, we have all seen an even bigger improvement in this area.

4.  His sleep has improved.  Less waking up during the night!

5.  Has more energy.  He is trying to roll over or scoot around more often and with more purpose in the movements  i.e. to get his feet to his sister so that he can kick her (seriously, he does this intentionally...typical big brother!)  or to knock over a stack of blocks that someone has built just out of his reach.

6.  Starting to copy more sounds that others make.  The staff at Ryan House last week really noticed this.  Liz, one of the nurses there, kept commenting on how much better Bryce seems to be doing now than he was during our past visits.

7.  He just seems to look and act better overall.

These are the changes that I can think off right off hand.  It's interesting because the people who have commented about these changes say things like, "I can't pinpoint exactly what is different about him, but he just seems better, or more with it and capable than he has been in the past", and then give some example.  

Is all of this due to him getting some real nutrition into his body as opposed to the canned formula he has had exclusively for 3 years now?  I don't know for sure.  But what I do know is that I have been led by the spirit to make these changes to Bryce's diet and it certainly appears to be the right choice for him at this time!

Bryce loves being involved in his own meals.  He often wants to help me push his food into his belly.  The only trouble with that is that he tends to want to push it much faster than it should go.  We have to take it slow or he has trouble keeping it down.   As of now, it takes about 30-40 minutes to get one meal of about 240 calories into him.   We currently feed (or give him water) 8 times throughout the day.   It's a lot of work to prep, feed, and clean everything, but that boy is definitely worth it!  

Next step:  Starting the day with a Real food breakfast!  Wish us luck and please keep Bryce in your prayers  that these changes may continue to be for his good and that we may continue to be led to know what is best for our son!  

Whatever!

Annalise's funny of the day...during OT today, her therapist was trying to get her to button and unbutton a vest.  Annalise said that she wanted to put it on.  Her therapist said that she could if she would then do 4 buttons.  Annalise agreed and they put the vest on.  She then began to play.  The therapist reminded Annalise that  she owed her 4 buttons.  Annalise looked right at her and with the hand and all the attitude in that little 3 year old body she said, "Whatever!"  She then giggled and went on playing.  We could not stop laughing.  Yeah, she's 3 going on 16, the little stinker.  I think the poor therapist finally got 2 buttons out of her today!