Goofy Munchkins

On school days, Johnathon and Deborah like to take Ryan out to meet his bus for school.  This morning was a typical school day.  EXCEPT that when we went outside I look down to see this: 

I should also mention that her t-shirt was on backwards, and she had on some funny pants, and pool sandals.  She was quite the site.  The glasses are 3-D movie glasses which have had the lenses removed. 

 I think the bus drivers at least got a good smile and chuckle for the day.  :)  I know I did. 

Happy New Year

 Well, no one here can hold still even long enough for a quick picture.  But, hope you all have a happy new year!

Going to ...

When I was saying prayers with Deborah tonight she said, "Mommy, can you not go to cancer any more?  I don't like it when you go there.  It takes too much time.  I don't get to see you very much when you go to cancer."

At first I thought maybe she was talking about when I go to MD Anderson for my checkups, but as I talked to her for a few more minutes it became apparent that she was talking about the time period when I was first diagnosed and treated for Cancer.

I too hope I don't "go to Cancer" anymore, Deborah.

Christmas

Remember when you were a child and it seemed like Christmas would never come? 

Christmas at my childhood home was magical.  I grew up in the wintery wonderland of Indiana where it seemed we always had the perfect white Christmas.  Even more awe inspiring was my parent's ability to weave the true meaning of Christmas and the childhood fantasy of Santa Claus into the everyday moments of the whole season.

I love thinking back to the anticipation I felt of wondering what I would find in the stocking each day.  I no longer recall whether a new present would arrive in the stocking every day, or just on random days.  I only remember that they were there.  Stockings hung with great care and tiny presents anonymously delivered.

One of my favorite memories was one of service.  I don't remember all the details.  I just remember that another family had lost their home.  My parents, having experienced the same before, gave us the opportunity to pick a gift to give to the family.  One of our gifts.  We didn't go to a store to buy something for the family. We went to our tree and picked a wrap present.  It was a sacrifice that was personal.  I didn't feel a loss.  I felt thankful to share.

Years later I am thankful to my parents for the magical Christmas memories.  I am thankful for the years of waking up to the sounds of Santa's reindeers and a house full of Christmas lights at the break of dawn on Christmas morning.  I am thankful for all the nights we drove around looking at lights throughout the city.  I am thankful for all the beautiful reminders of Christmas in every corner of every room of my childhood home.  Most of all, I am thankful for the example of Christlike service that I saw and continue to see in the lives of my parents.  It is the Spirit of Christmas.  I pray the spirit of Christmas will permeate in our lives.

Where Can I Turn For Peace?

I recently found this sketch by Jessica titled "Where Can I Turn For Peace?"  She apparently sketched it while sitting in a class at EFY this past summer.  Isn't it amazing?  I hope she finishes it.

Legendary Holidays

  One of our favorite holiday traditions here in San Antonio is Westin's Legendary Holidays.  We discovered it a few years ago and every year since several of the kids insist on going again.  

I'm so glad that at least some of the kids enjoy it because I love it! 

 

 This year we actually went on two different nights.  The first night I was mistaken about the time and so we missed the walk with the story teller.  Instead of just leaving right away, we visited with Santa, decorated gingerbread cookies, and made some wooden creations.

I'm so thankful that my kids are so patient with me and such great sports about things.  Even though things didn't work out the way we expected them to, we still had a great time!  Maybe even more fun than we would have had if things had happened as planned.  The best part:  we went back the next night for all the events!

Inside they have beautiful decorations that make for amazing pictures, like this one.

 At the beginning of the walk, they hand out bells and the children love the bells.

At one of the spots where along the trail, all the children gather up on the rocks and the story teller tells about the legendary snow fall.  Then he says, if we all believe there will be snow that evening.  Then the children walk toward the building and sure enough, there's a Texas snow fall. 

I won't spoil the surprise for you, but my children love the Texas snow fall!

After all the fun, there's hot chocolate and cookies to enjoy while we warm up by the fire

... and rest!

...

The Inevitable Question

It happens with every kid & tonight it was Deborah's turn: 

"Mommy, why are all the other mommies bigger than you?"  :)

Gingerbread House Time

Today was the day.  We built the annual gingerbread house and I let Deborah and Johnathon take the lead.  I figured it couldn't go too bad, right?  Afterall, I bought a kit.  Actually, I bought 5 kits.  Target had them on clearance and Deborah was so cute.  (Dwight says I must have been feeling guilt about something.  A story for another day, perhaps?)

All was going well and Jessica and David were kind of helping them along.  THEN, one of the gingerbread men had an "accident" ... and it all went downhill from there.

I don't know what happened, but Deborah announced that the gingerbread man had "fallen to his bloody death."  Oh, boy.

Soon after that, there was another bloody mishap at the gingerbread house.

When I asked Deborah why all the bloodshed, she said, "You said we probably wouldn't be able to make it look just like the box."

 

 Hmmmm.... I don't think THAT'S exactly what I intended for her to take from my statement.

While the rest of the kids made the gingerbread house, Ryan rested peacefully, he's not feeling very well this week.  But, the good news is that he hasn't had a seizure since the 13th.  FIVE full days of being seizure free!  Whewhoo!

 And, finally, this week at work, we had our Christmas party and did a gift exchange.  My Secret Santa gave me the most beautiful gift!  And, in it were the most wonderful pajamas and socks.  I think I'd like to live in these pajamas all the time!  The pants are SOOO soft and the socks are super soft and cozy. Thanks, DJ!  You are awesome!!

Santa came early to our house!

What a fun night! Some kind Santa dropped off a beautiful bag of gifts at our door tonight.  It was so fun to watch the kids pull the gifts out of the bag and place them under the tree.  :)  It was a very thoughtful act and very much appreciated.  The children were SOOO excited.  It's fun to see even the teenagers be excited about things. 

Whoever you are ... thank you!! 

Just thinking about....

I was just thinking about when we were last in the hospital.  A nursing student came into meet Ryan.  She was from another country.  After she finished her exam of Ryan, she asked me if I believed in God.  I told her that I did.  She then testified to me of her faith that God could help sustain us and lift our burdens.  She then asked if she could offer a prayer for Ryan.  I, of course, gratefully accepted.  It was a beautiful prayer.


She and I did not belong to the same church, but we both believe in Jesus as a Savior and as our personal Redeemer.  We both believe that He can heal our hurts and we both believe in the power of prayer. 

I am grateful to this woman that she was willing to share her faith with me and Ryan.  It brightened my day that day, and again today.  It reminded me of truths that I know. I hope it does the same for you today.  

A Very Foggy Morning

Doesn't it seem like the perfect day to curl up on the couch with a snugly child and a cup of a hot chocolate and a few good books?

Ryan's First Birthday Party

Ryan went to his first birthday party at a friend's house tonight without Mom.  It was a pajama party for Diego, Nelda's son.  (You probably know that Nelda is our friend and Ryan's nurse.)  I have to admit I was VERY, VERY nervous about him going without me.  I knew he was in good hands with Nelda, but I was still very nervous.  I'm nervous about all my kids going to their first parties without me.  So, why should anyone be surprised that I felt anxiety about Ryan going to his first party without me? 

I tried to be cool about it, but geesh! I couldn't wait until it was time for me to go get him!  When I did pick him up, I walked into the house and he was sitting in his wheelchair at the table.  Diego's older sister was next to him on one side and Grandma was on the other side.  He was obviously enjoying himself and all the fun sounds.  There was a house full of people and he was so happy!!

On the way home, Ryan was so talkative and he insisted that I talk or sing all the way home to him, which was about a 45 minute drive home.  It was wonderful to see him so happy and talkative!

Dwight is in China

Dwight is spending several weeks in Shanghai, China doing some consulting work with his current team.  It's unfortunate timing, but thankfully he'll be back home just in time for Christmas. 

If you know Dwight, you probably also know that he is extremely adventurous in eating.  So he's enjoying all kinds of fun things like ... chicken foot, cow stomach, chyo do fu (also called stinky tofu), durian fruit, fish eye, shrimp eyes, and cow eye.  (The picture below is either fish or cow eye.  I'm not sure which, but does it really matter???)
 

Dwight says shrimp eyes taste nothing like fish eyes.  He also said cow stomach tasted a lot like chewing on a rubber band. 

I'm not sure I'd want to eat much in China.  I suspect I'd be eating a lot of plain rice.  I'm glad he enjoyed himself.

The Skin Biopsy

Ryan's skin biopsy went well today.  He was very irritated that we woke him up, and he screamed about the numbing shot.  (Anyone who has ever had one of those shots can't blame him.)  They took a tiny bit of tissue from the back of his arm.  The good news is that the Dr anticipates the test results will be back within 4 weeks or so.  That is MUCH better than the 6-12 weeks we had been told it would take.

 (hmmm... awkward picture)

The other thing that I learned today which is really good news is that although this disease can affect any of the children in the family, it typically strikes at the same age within a family.  Thus, where Ryan was symptomatic at birth, it is unlikely that any of the other children will test positive for the disease.  They may test positive as carriers, but it is highly unlikely that they will test positive for the disease itself since none of them have exhibited any symptoms.  Whew!  That was a HUGE relief.

After the appointment, Ryan returned to his usual self.  You can see from the picture below his new hat device that the school OT came up with to help him keep his head up.  It's really quite brilliant! 

Well, Ryan was totally playing with me after his appointment today.  He seemed to think it was funny that he had figured out how to get his head out of the hat.  Smart boy.

Facebook Response

I woke up this morning thinking about the possibility of a diagnosis for Ryan and had so many questions.  The think that lingers in my mind is that with every profile I read, the child was already meeting milestones.  Ryan has never met one of his milestones.  I know that sounds really negative and I don't actually mean to be so negative about it.  Yet, there is no way around that.  He simply hasn't.   Yet, he was slowly progressing upwards for almost 3 years until this past June when he suddenly and quite drastically lost so many of his skills. 

Take a look at this picture taken in November of 2009:

 See how Ryan has his head held up?  Although he's 2 years older, he can't do that anymore.  He can't hold his head up.

I woke up thinking about all this and I went online to look for new information.  If you haven't realized this yet, I thrive on information.  And, let me tell you ... I have lots of new words that I need to more fully understand.  While online I also did a quick check to see if anything new had posted on Facebook, and I saw this response from one my favorite people, Howard Hurley. 

I should first tell you a little about Howard Hurley.  He is a great big guy, and he was my Dad.  No, not my dad in real life, but he was my Dad on stage in a show called Saturday's Warrior that we did back in the early 80's.  I was 14 years old, but played a little 9-year old girl who carried around a monkey-face sock doll.  In real life, he is a Dad.  A great Dad to a lot of kids.  And, you can tell that he's a great Dad by what he posted as a reply to my posting about Ryan's positive test.  Let me share it with you:

"Tina, the enemy you understand is better than the enemy you don't We know Ryan's disease is heartbreaking, but you must know you have a "cheering section" that think about you and your family often. If this is the diagnosis, well, it's pretty devastating, but it's a known quantity, and somehow, you have to deal with it. And I know you will, with your characteristic good attitude. I hope you find peace through this experience."

I started to respond to him on Facebook this morning and then realized it was too long and I wanted to preserve what I was typing as a reminder to myself for days ahead.  There might be a day when I need to remember.  Lately, when I've been reading in my scriptures, I've noticed that word a lot... Remember.

So, "Dad", this is my reply to you...

Thank you for your post.  I definitely think knowing is  better than not knowing.  You're right that I wouldn't choose this as the diagnosis, but I wouldn't have chosen any of this for him. Yet, I know that Ryan chose to come to earth even though he knew the package he was choosing.  It has been such a comfort knowing that. I cannot imagine life without having Ryan, even if it will be brief by our earthly standards.  I am thankful to know that he will be a part of our eternal family.  I will give thanks for each and every day that I am able to enjoy him. 

I also know the peace and comfort will come.  We are promised that He will comfort us and I know by experience that His promises are sure.  I'm so blessed to have so many who are willing to succor me and bear my burdens with me that there are truly times when I don't even feel the weight of them.  Thank you for being willing to be in my cheering section!  Thank you for your confidence.  I have learned strength and character from watching you and others like you!  Thank you!

Lots of Curls

Jessica curled Deborah's hair last night.  Doesn't she look adorable?

Neurologist Appointment

We had the much anticipated follow up appointment with the Neurologist today.  I thought this day would not come soon enough.  Ryan's hand and arm has raw spots on it from the constant rubbing across the sheets.

As I always do, I first gave the Neurologist an update on what's been happening at our other appointments.  I told him about Ryan's ABR test and how it showed that Ryan has lost another 20% of his hearing.  I also showed him the results of the swallow study and how they are no recommend that Ryan now not have anything by mouth due to the risk of aspiration.  We also discussed "Vital Stim", which is something that his Speech Language Therapist is trained to do which might strengthen his swallow muscles.  (The Neurologist has not seen it work in his patient group, but isn't opposed to us trying it and didn't think it would increase his seizures.)

Then we discussed the recent hospital stay, which he was well aware of since he had received so many calls during his vacation about Ryan.  (I really appreciated that he didn't seem to mind at all.)  We discussed all the spastic movements, but then he said he wouldn't call them spastic.  He said they are actually "diskinetic movements."  So we talked about those terms for a while and what each of those meant.  I love that he explains stuff like that to me.

That brought up the phone call regarding the Niemann Pick Disease.  So I told him about that.  He said it would actually explain a lot.  If he has NPC, it would explain the recent burst of diskinetic movement.  There could be 2 different reasons for it.  One possibility is that they gave him a lot of Ativan at the hospital for the seizures.  Average children take time to metabolize it and withdraw from it.  If Ryan has a NPC, he would have a more difficult time metabolizing it and it would take him long to withdraw from it.  The withdrawal from it could cause the diskinetic movements.  The other reason is that the seizure meds that we have Ryan on would  not be metabolized in the same way as they would be for someone without NPC, perhaps not even in a predictable way.   A diagnosis of NPC would also explain why since June we have seen such a loss of skills.



We then went over his recent tests.  His Lamictal levels were slightly high at 22.  His EEG showed generally slow waves, but looked surprisingly good.  But we obviously had it on during the wrong 24 hours.  His MRI didn't not show typical storage disease symptoms, but did show "a reduction in white matter, a volume loss."  When I confirmed that the MRI did not look symptomatic for Niemann Pick, he said that it didn't, "But Niemann Pick is very hard to diagnose in life.  It's usually diagnosed during an autopsy." 

After that we discussed Ryan's medicines and how to control the diskinetic movements.  He lowered Ryan's Lamictal levels and increased his Keppra levels.  He then assured me that it would slow by Saturday.  He said if it hasn't slowed or stopped by Saturday I can call him.  Trust me, I will, too. 

Now, to just make it through till Monday when I can hear what Dr. Gibson has to say.

Where's Deborah?

I went into Deborah's room last night to say prayers with her and she wasn't in bed.  Weird.  Where was Deborah??

Then at the end of Deborah's bed I saw this:

And, sure enough  ... she was curled up in there.

Sweet girl.

She even stayed there all night long.  She's convinced that with prayer and that tent she will ALWAYS have good dreams.  Hmmm....

A Positive Test

Remember all the tests that Ryan's Metabolic Geneticist had ordered at the end of September?  Almost all the tests had come back several weeks ago and they had all been negative.  I had followed up on them again a couple of weeks ago and they still hadn't heard back on the last two tests.  Honestly, I just didn't think we were going to find anything.

Then on Tuesday, an unexpected call came.  The nurse said, "Mrs Mann, do you have a few minutes?"  A test came back positive.  I'm a little shocked.  Ryan tested positive as a "carrier for Niemann-Pick C-1.  Heterozygote.  One copy not 2.  A carrier, not diagnosed with the disease."  She then read to me, "Biochemical testing is recommended to confirm disease diagnosis."

A few days and several calls later, we have the next steps planned out and at least a rough understanding of what will take place over the next few weeks.

Ryan will have "biochemical testing" done on Monday, which starts with a skin biopsy.  It's my understanding that it will take any where from 6-12 weeks to get the results back.

I'd like to tell you all about the disease and educate you about it, but  instead I think I'll just give you some good links.  I'm sure you can understand.


National Niemann-Pick Disease Foundation

National Institute of Neurological Disorders and Stroke

This one is my least favorite, but it is very informative.
PubMed Health

In addition to the skin biopsy, Dr. Gibson is still scheduling a muscle biopsy.  We are waiting to hear back from the surgeons for a surgery consult.  It will be done as an outpatient surgery.  The muscle biopsy will not confirm diagnosis of the Niemann Pick disease.  Thus, he is still looking for other diseases.

In looking at the few profiles I've been able to find online of children with NPC, I haven't found any one yet that was diagnosed with NPC who wasn't walking and talking first before they started losing their milestones.  So, I guess that's something I'll have to ask the Doctor about.  Is it just that Moms with kids like Ryan don't blog about it?  I haven't found them yet.  Or, is it, well, that they just don't survive the disease long?  I have so many questions.  But, as one of our Doctors said, we should wait to confirm the disease.    Then he said, "However, it's not typical for a carrier to be symptomatic for the disease like Ryan is."

It's odd to think we may actually have a name for Ryan's issues.  It's obviously not the ideal diagnosis, but I am thankful for great doctors.

Great Scripture

I was just reading my scriptures this morning.  Alma 37 in The Book of Mormon. 

My daughter gets up each morning at 5:45 to go to seminary to study the scriptures.  Each year they study, in-depth one book of scriptures.  They have certain scriptures called "Scripture Mastery Scriptures" that they memorize and really study.  They have important concepts in them.

Alma 37:35 is one of those.  It says:

O, remember, my son, 

(Alma is the name of the father and he's talking to his son, Helaman)

and learn wisdom in thy youth; 

yea, learn in thy youth to keep the commandments of God.

Great advice, right?

Well, I think there's an even better scripture in it's shadows just before it.

Alma 37:34

Teach them to never be weary of good works, 

but to be meek and lowly in heart; 

for such shall find rest to their souls.

Okay, maybe not better, but at least equally as good.  :)