1 Year Ago Today

It was one year ago today that Bryce and I headed down to Tucson to meet with Marsha Dunn Klein for the first time.  I was on a quest to find someone who would help us safely transition our son to a blended diet.  With only one small change, we have seen miracles happen.  We have witnessed him doing things that we believed we would never see him do again!  Switching him to a blended diet may have been the best decision I have ever made!

I've decided that in celebration of his "new food" anniversary I would make a list of some of the changes that we have noticed throughout this year.

You can see some of the earliest changes that we saw written here in a post from Nov. 2012 as well as  listed below:   

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.

A few other things we have noticed since writing that post include:

1.  Although over the last few months we have seen a little more illness creep back in for him, he still seems to be healthier overall.  He definitely recovers from illnesses more quickly then he did before and doesn't seem to regress after an illness like he often used to.

2.  He is able to grasp things with his hands again.  Sometimes only for short periods of time, but he can do it.

3.  He is able to lift his hands up and make small marks on paper with very little help.

4.  He can now bring things up to his mouth and chew on them.  The first time he did this it took him almost 45 minutes of trying before he got the z-vibe to his mouth.  He was so determined and did not want anyone else to  help.  He just kept trying until he finally got it into his mouth.  Now he can bring something into his mouth on demand...within a minute or two!

5.  He doesn't gag when he does #4 above.  In fact he is able to tolerate having more things around his face.  We are able to have balloons, rubber balls, etc. in the same room with him again without them making him gag and throw up!  

6.  He is able to reach out and grab for objects again.  He is able to pull them to him or push them away from him.

7.  He is rolling again.  He first was able to roll from his back to his stomach and then just about 2 weeks ago, he rolled onto his back and was able to get all the way over and get his hand out from behind him.  I was so excited!  He was too.  I haven't seen it again yet, but I'm sure I will!

8.  He is able to lift his legs in a walking motion when he is being held up.  He loves "walking" from place to place all over the house!

9.  He continues to gain weight at a steady pace.  He is actually on the charts once again!

10.  He is down from 4 to only 1 prescription medication on a regular basis.

11.  He continues to be so aware and loves to interact with people and his surroundings.

12.  He has much better head control.  When lying on his belly and propped up on his arms, he is able to hold his head up to watch TV or something else going on that has caught his attention.  We have seen him hold his head up for up to 10 minutes at a time.  We used to count that time in seconds!

13.  Bryce's GI doctor who was so against Blended Diet in the beginning has come around completely.  Going from being totally against the idea of me changing Bryce's diet from canned formula to my own blended formula meal of real food, to now suggesting that I talk to other patience of his as well as telling them about the blended diet himself!  When I tell him of Bryce's latest accomplishments he says it is because of all that Green Love that I am feeding him.  :)

14.  The rest of the family is eating much healthier as well.  Bryce is still by far my best fed child, but the rest of us are coming around!  

15.  ...and probably the most exciting thing that we have noticed is the results from his MRI that did not come back as abnormal as his previous ones.  His Mylen, or white matter is growing back!  Unheard of!  Most of the things that he is doing, are not supposed to happen...medically speaking anyway!  He has stumped his doctors once again!

There may be more and I will add them as I think of them (or if others who work with him think of anything else) but, we are seeing miracles with this boy!  I can't say for sure that all of these things are happening just because I changed the type of food that he eats.  However, this is the only change that we have made over the past year and the evidence seems to speak for itself.  I know that these positive changes we see in Bryce are miracles.  They are things that we were not supposed to see our son do ever again.  They are miracles given to us by our Father in Heaven who loves us, loves Bryce, and has blessed me with the knowledge and determination to do what I needed to do so that Bryce could begin to heal.  

May the eating and healing continue!

Battling for Bryce

Like most of you, I would do anything for any one of my children.  When I gave birth to my first child at the age of 30, I quit my job in the "real" world so that I could be home to raise our babies.
 

 William April 2001

The day that first child was born I began a job that is completely unlike any other.  I vowed that I would do the best I could possibly do while working through that job.  I knew I could not do it alone.  I knew I wouldn't have to.  I knew there would be good days and bad days, happy times and sad times, fun times and not so fun times, but I had no idea the extent to which this job would pull my heart, mind, soul, and everything in me in so many different directions. 

Bryce 2013

There is a battle for Bryce going on at his school right now and as Bryce's mother, it is my job to be at the head of this particular battle.  It is a battle that Bryce would fight for himself if he could, but he cannot.  Yet at the same time, it is a battle that I could not be fighting for him without the help of his spirit and our Heavenly Father's spirit from above.  I love my son and every one of my children more than I will ever be able to express and I will continue to do everything in my power to fight for what they need!

Spontaneous

Spontaneous:  coming or resulting from a natural impulse or tendency; without effort or premeditation; natural and unconstrained; unplanned

On the morning of this past 4th of July, we got into a discussion with some friends of ours.  Some of them were leaving right after the breakfast to go camping.  Someone said that we should come up as well.  When I said that we would need more time than that to prepare, he said something to the effect of, "what kind of preparation do you need for camping?  Just throw some stuff in the car and drive off."  It got me thinking.

I have never been much of a planner.  I have trouble making commitments and love to do things on the spur of the moment.  I usually like change.  When John and I were first married, I was working for the airline so we could fly standby for free.  We loved flying to new places and having the ability to visit friends and family so easily.  One 4th of July we decided to fly to Utah.  When we got to the airport, we saw that the flight we were hoping to take had filled and there were no other flights to SLC with seats available.  So, what did we do?  We sure didn't go home.  Our bags were already packed.  We stood there looking at the departure board and chose a place to go.  We spent that night in Florida!

Once we had children, I quit working so that I could stay home with them.  Our love to "go" at a moment's notice didn't change much.  We went on a couple of family trips like the one to Disneyland with our friends the Crandalls.  They were going with their family (family reunion) and one of the families was not able to go at the last minute.  So they called us, we packed up our 3 little boys and left.  Best trip to Disneyland ever!  (Well, other than the fact that our stroller was stolen while we were stuck at the top of a ride..but hey, that just added to the adventure!)  Many of our friends also knew that they could call us almost anytime and we would jump at the chance to join them for a date night, family activity, or even camping.

But things have changed.  I knew that, but I think that this discussion with our friend really brought the reality of it to the surface for me and quite frankly, made me a little sad.  I think that for everyone as you have more children, the ability to be spontaneous becomes less and less.  But when you add in a child (or two) with special needs, it is an even bigger challenge.  A child who is medically fragile takes it to an even higher level of difficulty.

As I think about it, I think the last spontaneous trip we may have taken was our trip to Italy where we ended up in Holland.  Ha Ha!  That one sure wasn't planned or prepared for.

What a lot of people who do not have medically fragile children do not understand is how much work goes into taking care of these children behind closed doors.  How much it takes to get ready to leave the house for even a few hours.  How much equipment and medication has to be brought along for their basic needs as well as the "just in case" items that your child may need, possibly to keep them alive while you are away.   We have to think about having a power source to run their machines.  We have to prepare their food ahead of time, because stopping for a hamburger along the way just isn't an option.  The list goes on and on.

So, when I got a call last Wed. night from Melissa at the Ryan House stating that they had room available this week and would love to have Bryce and Annalise come stay for a few days, I was excited with the thought of a spontaneous trip once again.  We had to decide quickly if we could make the arrangements,  pull our kiddos from school, and make that Summer Staycation that never did quite happen this Summer, happen now.

-To be continued-

...after our vacation...

Friday, August 2nd, Annalise had her MRI tests.  Saturday night I got an email from Dr. Narayanan.  Seriously, does that man ever sleep?  Anyway, here is the official report he got from the radiologist:

MRI is normal, MRA is normal, and MRS (spectroscopy) is normal.

Yes, you read that right.  Normal, Normal, and Normal!  Fantastic news, right?  Yes!  It is, don't get me wrong.  I am thrilled that, like Bryce, she too has shown progress in her myelination.  It gives me a new hope (again) that maybe our children don't have anything seriously wrong with them.  That maybe there is an easy answer and maybe even a cure!  I want to hold on to this hope, to not think any further.

But then I look around and the frustration sets in.  I want so badly to believe that everything is NORMAL with our children, but if this is the case, why is Bryce in a wheelchair, why can he no longer chew, suck, and swallow correctly, why does he stop breathing at times, why does he have to speak with me using his eyes instead of words,  why is he lying on the floor or sitting in a special supportive chair while watching his brothers run, ride their bikes, play ball, play video games and all the other things a NORMAL 6 year old boy would be doing?   Why do I still have two children in diapers?  Why is my daughter unable to run like she used to, why is it getting harder to understand her words instead of easier, why does she wake in the night because of pain and the inability to roll herself over or to get in and out of bed on her own like any NORMAL 4 year old can?

If everything is normal, why is it not?

Dr. N went on to share his thoughts:

"When I look at the MRI - I still have the feeling that there is some problem with the pace of myelin development.  There has definitely been some progress in myelination between 18 months and now; but just not at the normal rate I think.
This is also the same feeling I had when reviewing Bryce's latest MRI.  There is also the report compared to his prior MRI which suggested delay in myelination.  They say that the myelination patter is symmetric, and improved.  They also noted subtle prominence of the cerebellar folia (spaces between the ridges of the cerebellum).

I think this takes us out of the Aicardi-Goutieres syndrome group of disorders.  All the other classical leukodystrophies have been ruled out.  Still can't ignore the mild elevation in CSF neopterin in Annalise.Clinically, they both look like they have some white matter disorder."

He went on to tell me that he has one more hunch and will have to do some work to figure this out.  Didn't tell me what that hunch is, which of course makes me crazy curious and yet at the same time I don't want to know what he is thinking or I will research something else for hours and hours only to find out that it leads to another dead end.  He says that he thinks the best shot is to wait until the exomes on me and John are completed and then we will have a better idea.  I think he is right.  Hopefully this will be available in the next few weeks, he says.  I hope he is right.

I want to stay positive.  I'm trying, I really am.  I don't want to sound negative because the news that we have gotten about the myelin truly is wonderful news!  Definitely a blessing!  I am so thankful that this is what is happening in our children's brains.  

We truly have been blessed with a wonderful man as our children's neurologist.  He is working so hard and coming up short and never giving up.  Even though in so many ways, it feels like we are still so far away from knowing what is going on with our children, there is a part of me that believes the answers are right in front of us.  I can feel it!  If only we knew how to reach out and grab them.  

I know that when the time is right we will know.  I know that the Lord knows.  I know that we have family and friends on the other side helping us...both in finding the answers to our mystery and in helping us be patient until that time comes.  I definitely cannot see the whole picture.  I don't understand why our children have to go through all of this...especially if we do find out that it is something that can be solved, that with some small thing our children can be healed.  Wouldn't that be wonderful!  Oh how I hope and pray that this is the answer that we finally, someday soon will be given.  

We have been talking for a while now about looking into Make-a-Wish for Annalise.  Bryce had his wish granted back in 2010, one month before Annalise was "diagnosed".  It was wonderful and truly a blessing to Bryce as well as the rest of our family.  Something we will cherish forever!  Annalise loves Micky Mouse.  She loves water.  She talks about swimming with dolphins.  I think we will hold off just a bit longer.  Who knows, maybe she won't even qualify for a wish!  Wouldn't that be crazy...and wonderful!

All I know is that through this journey I have met some incredible people.  People who, very likely, I never would have met otherwise.  I have learned things that I never would have learned.  I have become a person who I never would have become without this part of my life.  My husband and all of our children have done the same.  I feel like everyday, even as I continue to learn, the less I know.  One thing I do know for certain though is that there is something so much bigger than us out there.  I know that we have a loving Heavenly Father who is fully aware of who we are and what we need.  There is a plan and every single one of us has a very important role in that plan.   

Not Leukodystrophy?

Bryce had an MRI/MRA last Wednesday.  Thursday morning when I woke up, I found that I had an email from Dr. Narayanan.  He had compared this MRI/MRA to the MRI's done in 2008 and 2010.  He had also read the official report.  He let me know that the MRA was totally normal.  Great news!  This was the first MRA Bryce has had done, so it was good to know that everything looked good on that.

Then things got interesting.  He said that the report stated that the MRI did not show significant abnormalities in myelin, and showed signs of continued myelination!  That is huge.  Do you know what that means?  Somehow, Bryce's brain is actually growing myelin again!   Awesome!   Totally unexpected, but awesome!

Another comment was that the folia in the cerebellar hemispheres were slightly more prominent than before-these are like the sulci in the brain.  I had to google that one and ask some additional questions of Dr. N, but yeah, it appears that this is good news too.

Then Dr. N shared his feeling on the results:

1)  Even though the myelination is improving, it doesn't quite look like it should for a 6 year old.
2)  Not a Leukodystrophy
3)  Still waiting on exomes from the rest of the family.

He then kind of thought out loud for a bit and said, "back to the drawing board".  He asked me to contact our pediatrician and get all of the neurology consultation notes from before Nov. 2010.  He is going to start again from the beginning, rethink through everything, and look at all the data again.

Since this email left me with a few new questions, I emailed Dr. N and got another email back.  I'm posting it here, because it is full of information and helped to explain a bit more of what is happening with Dr. N and the sequencing at TGen.

Dear Tammy:
The latest from TGen.
1.  In the first sequencing runs (whole exome sequencing) they did Bryce and Annalise.  They identified the same SAMHD1 variant that we knew about already.
2.  Based on our feeling that this was too much of a coincidence (clinical suspicion of AGS, elevated neopterin in Annalise; absence of calcifications), we decided that the next step was to see if there was a difference in the expression of the SAMHD1 genes (levels) between dad and the two affected children. We chose dad, because he also has the one SAMHD1 variant.  The idea was that if in the children, the levels of normal SAMHD1 was way low, then this could be why they had symptoms of white matter disorder, without us finding a second mutation.  The RNA sequencing on dad, and two affected children is done; still being analyzed, but a quick look at SAMHD1 levels shows that they have normal levels of the copy that they inherited from you (mom).  so this is not the answer.
3.  We had planned on sequencing (whole exome) mom, dad, and one unaffected sibling.  The preparation has been done, and they will go onto the machine next week, and we should have results in 3-4 weeks.  When we get this, we will analyze the entire family from scratch - without a preconceived notion that this might be AGS or might be linked to the SAMHD1 variant.  Just that it is autosomal recessive, and causes spasticity.
4.  The MRI result on Bryce just makes me question everything - including the idea that this is AGS; it doesn't look like a classical leukodystrophy. But his symptoms with loss of skills, spasticity, fits the AGS model.  Maybe something new.

I have to study this all over again, and having my early notes will help me.
I hope I am explaining things clearly to you.
Hopefully, we'll have more data in 3-4 weeks, and we'll get another attack at solving this puzzle
Vinodh

So there you have it.  You know as much as I know.

Exactly 5 years from the day Bryce began showing symptoms of regression (July 2008), we are back at square one.  The journey is long.  The mystery continues...

2 Pounds and Continuing!

He did it!  Despite all the tummy trouble he has had since his last GI appointment 3 months ago, Bryce still gained 2 pounds!  Woo Who!

I was a little worried, but he pulled it off.  Dr. McOmber was pleased with that.  He gave me a hard time about the Green love, in a joking way throughout the entire appointment.  He also said that he had just talked to someone who had come in about the fact that I feed Bryce a green smoothie through his tube and how it has helped with his constipation and gotten him off of MiraLax.  We are becoming known around that office and other people are joining in!  It is so nice that he has come around to totally being okay with us doing a blended diet for Bryce.  It is hard to deny the facts of the benefits of eating real food when you see results like Bryce's right in front of your eyes!  Keep it up Bryce.  You are doing great things here!  Dr. McOmber really is a fantastic doctor and the appointment couldn't have gone better.

Last time we were in, Dr. M mentioned doing some blood work to be sure Bryce was getting all of the nutrients that he needs through his new blended diet.  He didn't mention it this time, so I brought it up.  I would just like to make sure Bryce is not lacking anywhere.  If he is, then we will know that and I can just adjust his feeds a bit and make sure he is getting everything he needs.  I love being able to do that!

Bryce showing off his nifty green bandage.

Bryce did a fantastic job with getting his blood drawn today.  No crying at all!  He was not happy about having to get it done, but he made it through without any tears.  I was so proud of my big boy.

Appointments like today's make me feel like all the extra work/money I am putting into feeding Bryce the right way, for him, is really worth it.  Sometimes it's just nice to have a little reminder of that.

Our busy day continued once we got home.  Bryce's one-on-one Para from last year came by to say hello.  She was here for about 4 and a half hours.  It was so good to see her again.  She has really been missing Mr. Bryce.  We found out on the last day of school that, by no choice of her own, she will not be returning to the school next year.  They told her that her job has been cut.  Her job was being Bryce's one-on-one Para.  Doesn't make any sense why that position would be cut.  He still very much needs a one-on-one person with him throughout the school day, not to mention it is in his IEP, not to mention they have a notice from Dr. N making it very clear that he is to have a one-on-one aide at all times.  I learned a little more today.  Unfortunately, some of my suspicions have been confirmed.  Looks like I will be making a call/visit to the school once the office staff is back from Summer break.  Leslie is a fantastic person and the new little girl  that she will be working with this next year is very lucky.  This story will be continued for sure!

I love this picture of them together! 

Ms. Leslie and Bryce.  Both happy to see each other again!

While Leslie was here, Bryce and Annalise had speech therapy.  Today, Miss Laura brought a cute hand flag craft to do with them.

It still amazes me that we are able to do this with Bryce.  Just months ago, even seeing the bottles of paint would have made him gag.  There is no way that we would have been able to put it on his hands! 

Maisey and Eliza, my nieces were over when we were working on the crafts, so they got in on the action.  

The projects turned out really cute!  While all of this was going on, the older boys had cousins and friends over.  We had 11 kids here total most of the afternoon!  Fun times!  Converting our garage into an area for the boys and their friends was one of the best things we have done in years.  Hopefully we will be able to finish the therapy room soon.

Happy Birthday Annalise

It's a day to celebrate!  Today my baby girl turns 4 years old!

 May 2009

May 2010

May 2011

 May 2012

May 2013

Happy birthday sweet girl!