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.  :)

Happy Thanksgiving

Am I the only one who is finding it hard to believe that it's already November?  And, not just November, but it's already Thanksgiving?  It seems just yesterday that it was June 30th.  It's hard to believe that almost 5 months have passed so quickly. 

In some ways I still feel like the child who wishes time would speed up so that Christmas morning will come when I open my eyes, and in other ways I wish I could just hold the hands of time so they would just almost not move.  I suppose it's good that I don't get to choose how to control time.

Anyway ...

I took the other children to see The Muppets Movie.  I love happy movies.  It's a happy movie.  I highly recommend it. 

I wanted to go see Hugo also since I had read the book "The Inventions of Hugo Cabret" to the children ... actually twice.  It's a great book.  But, when it was time to go I was just too tired and decided to stay home with the younger kids.  It was the wise choice for me to get some rest, but I'm disappointed that I didn't get to see the movie.  David, Jessica & Dwight really enjoyed it a lot.  (I hear that if you haven't read the book, you may not like the movie very much.)

We had a really yummy Thanksgiving day of food.  We choose not to overdo the food this year.  It was a nice choice.  Sometimes Dwight and I spend so much time cooking that we don't spend as much time with the kids.  We noticed in the past that the kids prefer us to spend more time with them.  It's more important than the food to them.  I think we found a really good balance this year.  Jacob commented that one of his favorite things about our house on Thanksgiving is how we graze all day.  We certainly did that again this year.  It was yummy!  I'm very blessed to be married to a good cook who loves food.

Ryan's spastic movements seem to be slowing down a little.  I wonder if it's like seizures that can come and go for no reason.  It makes me nervous.  I'm very anxious to talk to his Neurologist this week.  I should probably take a peace offering for interrupting his vacation so much during Ryan's hospital stay.  I know it's his job, but he could have just tried to call back once and then said, "Oh, well, I tried."  But he didn't.  I really appreciate that he kept trying.   Maybe some homemade toffee would be good?

That's just one of the many things we have to be thankful for at this Thanksgiving season.  I believe it's important to always have an attitude of gratitude, and know that in my life when I count my blessings, it helps me to remember my blessings.  I hope that you already know that I am thankful for you, my friends.  I hope you already know that I am thankful for my family, my faith, my God, and for all that I have. 

I pray that you,too, are safe and blessed this Thanksgiving season!

Home from the Hospital

Well we made it home from the hospital last night around 8 pm.  Ryan is stable and not seizing.  However, he is having constant "spastic" activity.  Unfortunately, his Neurologist is out of town for the week and is traveling some where without good cell phone reception. 

On Tuesday they did a 3 hour MRI of Ryan's spine and brain with and without contrast.  Beyond the new seizure meds, the MRI, the lamictal level blood test, and the 24-hour EEG, the Hospitalist felt there was really nothing else they could for Ryan.  So, we're home waiting to see the Neurologist when he returns.

The spastic activity means that Ryan's arms are constantly flexed and moving, and his upper body sometimes jerks like he's trying to sit up.  When it intensifies, his lower body stiffens and he "scissors" his legs.  ("Scissors" is the term used to describe crossing at the ankles.)  The spastic behaviors are obviously very uncomfortable to Ryan.  He's not resting well. His eyes are bloodshot from being so tired.  The nurse today suggested that we alternate Tylenol and Motrin.  That seems to give him some relief.

So, what's causing the spastic behavior?  Well, we don't know for sure.  It could be whatever disease or syndrome is causing everything else.  Or, it could be that the 3+ hour seizure he had on Saturday did nerve damage.  Hopefully the Neurologist or the Metabolic Geneticist will have some input next week.  And, more importantly hopefully we can get Ryan something before next week that will give him some relief from the spastic behaviors.

A Quick Update

Ryan is having a much better night, thankfully.  The doctors have ordered a MRI with and without contrast of the brain and the spine tomorrow.  Hopefully, the night continues to go this well so that we both can get some sleep.  Thank you all for your kind words, prayers, and your support.  I sure appreciate it!

A Long Night

Ryan's meds have been adjusted. They are keeping the Lamictal the same, but adding a dose of Keppra to his daily meds.  Last night the thrashing about starting again in mid afternoon and continued to increase in intensity. I was hopeful that the Keppra would calm it, but at 1 am when he started crying with each cycle of thrashing ... and there were definite cycles, I finally requested Ativan for him.  It was a low dose of Ativan, but it did the trick.  Within just a few minutes, he was resting peacefully.  It was such a relief to see him calm and at rest.

Today the Hospitalist (Ryan's Doctor here at the hospital) is going to be speaking with Ryan's Neurologist and his Metabolic Geneticist.  Hopefully, they will be able to coordinate the best plan for Ryan.  I think I will also put a call into the Metabolic Geneticist just to make sure he has all the most recent information since our last visit, and I'll call Dr. Rhame to give him an update.

An EEG and More Crazy Seizures

On Friday morning we went to the hospital to have Ryan set up for a 24 hour EEG.  When we scheduled this test, Ryan was having 8-9 seizures each day, but then his Neurologist adjusted his meds and during the past few weeks he's only averaged 1-2 obvious seizures every few days.  (I say obvious because it's always possible that he's having "subclinical" seizures, essentially meaning seizures with no outward symptoms.)  I'm not sure that we'll get any information from the test, but we'll see.

It was wonderful to see that the technician who set up his EEG was a familiar face.  Susan didn't immediately recognize us, but after I commented on remembering that she volunteered for the Leukemia and Lymphoma Society (LLS) she remembered me, mostly from my "soft, quiet voice."  I remembered her because she does a lot of work with LLS, and that just makes my heart swell.  They are the organization that sponsored my chemo, meaning they paid $5,000 towards the cost of chemo.  It covered some of the costs that my insurance didn't cover.  It was such a blessing!

Once we had Ryan's head all wired up, we were actually able to return home for the day.  The entire day consisted of someone having to hold Ryan's hands.  He seemed very bugged by the "Brain Monitor."

When I took Ryan home, Johnathon and Deborah were immediately concerned and interested.  I always explain things in great detail to the kids, both in real medical terms, but then also in terms they can hopefully easily understand and grasp.  I called it a Brain Monitor because I knew they could relate it to the heart monitor he had recently had.  Then I explained that it was very important to make sure Ryan didn't detach any of the electrodes so that we could get a good "feeding."  I meant to say "reading."   Friday night when I was saying night prayers with Deborah, she prayed that Ryan's Brain Monitor would get a "good feeding and not be hungry."  Nice.

We made it through Friday night and arrived back at the hospital on Saturday morning at 8.30 with only 2 of the electrodes detached.  They checked to make sure the recording worked, but we were not given any information on whether or not the EEG recorded any seizure activity.  I don't think I'll hear back on that until I talk to our Neurologist.  Our next office appointment isn't scheduled until the end of the month.

So, then we went home.  Shortly after we arrived home, the arm thrashing that Ryan had been doing all Friday night became more intense and his upper body became involved.  It didn't take long to recognize that he was probably having some sort of neurological issue.  From about 9-12, he cried nonstop.  Nothing helped.  He normally calms to a warm bath with Daddy.  Nope, not this time.  His legs were stiff as a board from just above the hips, and scissored.  His upper body was fighting with super human strength.

And, my big mistake for the day ... checking to see if he was teething.  I'm lucky I still have a finger tip.  What was I thinking???  If you EVER even suspect seizure activity, DO NOT STICK YOUR FINGER IN THE PERSON'S MOUTH!!  They really do have super human strength.  Ouch!  That hurt!

So, at noon, I called the doctor and he said to take him to the ER.  I walked into the full Children's ER and they immediately walked us back to a room, with 3 nurses and a Doctor.  They all immediately recognized it as seizure activity.  How did I not know for certain that it was seizure activity?  Why did I wait so long to know for sure?

The ER Doctor was also a familiar face.  She has treated us before in the ER.  She's a good doctor.  We had to stabilize and calm Ryan first.  His heart rate was staying above 150 and his oxygen rate was staying below the low 90's.  Once stabilized, she ordered scans and x-rays to eliminate the possibility that the seizures were being set off by an infection or a fracture, etc.  They gave Ryan a drug called Ativan, which also sedated him.  Then they did full body x-rays, blood work, urine collection by catheter, and examined him quite thoroughly.  They didn't find any infection or fractures. 

As soon as the Ativan started to wear off, the same seizure activity immediately started again.  It didn't have quite the same intensity, but it was close.  Another dose of Ativan brought the same calming effects.  A consult with a Pediatric Neurologist (unfortunately, not Ryan's usual Neurologist) brought a large dose of Keppra.  Ryan took Keppra when he was much younger, but it was replaced with other seizure meds when his seizures changed characteristics.

So, they admitted Ryan overnight .  He slept off and on through the night.  He is awake today and his upper body is again thrashing, for lack of any other term.  He doesn't seem to enjoy this.  I hope they are able to figure out what is going on for him.

The Hospitalist is also a Doctor who has treated us before and recognized us, and impressively remembered a lot of details.  He is trying to reach both Ryan's Neurologist and his Geneticist to see if they want to do an MRI.  If we are doing an MRI, the Geneticist may want to order a muscle biopsy at the same time.
 
Keeping all things in perspective ... we are very blessed to be surrounded by talented people who have sacrificed much to be able to help us.  We are very blessed to be cared for by so many people who do their jobs so willingly and so kindly.  I am thankful to you for all of your prayers, and would once again ask for your prayers that the Doctors will be able to help Ryan.

Check Him Out..

This morning we got an email from a friend letting us know that Living Social had this advertising campaign running today.  What a fun surprise!  This picture was taken when David was performing at LOL Comedy Club.

H

Every night Deborah prays. Every night Deborah prays that she will not have bad dreams.  AND, every night ... without fail ... Deborah prays for her friend H-y.  She has loved H-y for the past few years now.  She just thinks he is the best guy ever!  I have to agree that he is a pretty great young boy!  He's such a gentleman:  polite, cute, and really funny! 

Well, today he had a birthday party.  Starting several hours before the birthday party, Deborah started asking me how much longer till the birthday party.  She, of course, wasn't content with "a few more hours."  No, she wanted an exact count down, "4 hours and 11 minutes."  ... "3 hours and 48 minutes" ... "3 hours and 24 minutes" ... "2 hours and 56 minutes" ... Well, hopefully, you get the idea.  The countdown happened frequently. 

Oh, and picking the present was LOTS of fun!  We have a family budget for friend's birthday gifts.  It's the same for every friend and for every kid.  It's always the same, BUT if one of the children wants to spend more than that then they are welcome to spend their own money.  I think Deborah might have spent her entire piggy bank, if she had found a present that required it.

It was so fun to watch her pick the presents.  It was fun to see the process.  She has such a mind of her own.  (I have no idea how I have so many children with such independent strong spirits.  haha!)

Anyway ... then we went to the party.  It was so fun!  Then they played a game.  It was a game kind of like tag, but they would thrown this "cushion" and if the cushion hit you then you were out.  I wanted to play!  It looked like a lot of fun! Deborah was running fast and staying far from the cushion, never taking her eye off the cushion. 

Then I saw it ... fear.  She wasn't just playing a game.  She was scared of the cushion hitting her.  She was running to protect herself!  (Oh, if only you could see her face in this picture. )

Thankfully, Liam (H-y's older brother who was helping with the party & is also a such a gentleman) tagged her by getting her out on the leg.  Yay, Liam!  As soon as she was out, I went over to check on her.  She was so relieved to be out of the game.

That was it for her on the games, but boy! She had SO much fun, and she LOVED being at H-y's party!

The Weather Report

Today is going to be busy day following a crazy busy week of appointments.  I don't really have time to post, but I feel strongly that I want to share a few thoughts that have been brewing in my head.

A new friend I met recently, Susan, related feelings to a weather report.  The other day I was driving and thought, "It's cloudy with a chance of heavy rain showers."  I probably should have just acknowledged that it was already raining, but for whatever reason, I seem to have a probably admitting that the rain clouds are almost always looming lately. 

Then I heard the words to the song I had on in the car:

And with everlasting mercy will I succor thee
And with healing will I take thee 'neath my wings
Though the mountains shall depart
And the hills shall be removed
And the valleys shall be lost beneath the sea
Know my child
My kindness shall not depart from thee!

And, then the thought came to mind ... the promise ... the rainbow. 

The rain will always end.

Ryan's Hearing Tests

On October 28th, Ryan had his 2nd set of tubes put in his ears.  While still in the OR, they also did an ABR hearing test.  You might remember that Ryan had this same test done last August and that it showed 60-70% hearing loss then.  Well, this year the ABR showed his hearing loss to be 80-90%.

In light of the other skill losses, I suppose we anticipated these results.  It was still disappointing to learn that he has had such significant loss.

So today we met with an Audiologist and she made molds of Ryan's ears for hearing aides.  Within the next couple of weeks, we'll go back to the Audiologist's office to do a hearing test for an audiological exam.  I'm quite curious how they will do that with Ryan.

I thought you might enjoy seeing pictures of the molding process.  Dr. Board first put a little spongy material on a string.  She placed that into the opening of Ryan's ear.  Then she filled a syringe with some squishy green material. I wish you could feel the texture of the material.  It was a seafoam green and was very oily feeling.  Dr. Board put some in Ryan's hand before she put it in Ryan's ear.  She even let me play with some too. 

After just a moment or two it became set, and the doctor took it out.  Ryan didn't seem to mind the process at all.   This is what they looked like:

(We did have to repeat the first one, which is why you see 3 below.  Don't worry; Ryan doesn't have 3 ears.)  

You've heard the old saying: "Pick your battles."

My little Deborah loves to pick out what she's going to wear each day. I've learned not to pick that battle. So, each day I give her choices. A few choices. We usually do okay that way.

Today she picked a BEAUTIFUL red dress.  One of the most beautiful in her closet.  She even wanted me to blow dry her hair and curl it for her today.  She really wanted me to put some makeup on her too, but I had to draw the line at that one.  She is a little young for makeup.

I suspect she knew I wasn't going to do makeup.  So far, so good right?  Then I asked her to go get her socks and shoes on.  She picked her beautiful fancy white socks with the beautiful white lace.  Of course, she INSISTS on wearing them as knee highs, which means the lace is up by the knees instead of folding them over.  But, pick your battles right?

Then she comes back in my room to tell me she's ready to go to church.  I turned around to tell her thanks and to give her a kiss.  Imagine my surprise when I looked down at my beautiful daughter with her beautiful curled hair in her beautiful dress and in beautiful (knee-high) socks AND HER CONVERSE SHOES!

Yup!  You read that right.  Black & white Converse shoes.  The ones that match her brothers.  She thought they looked perfect.  There was no changing her mind.

"Pick your battles."   Right?

Notice her socks' ruffles are at her ankles.  I picked my battle and she wore her Converse today.

(And, she still looked absolutely beautiful!)

Looking gorgeous

It's rare to get a picture of Jessica. It's nice to get one of her smiling, looking confident, and just beautiful.  I love that girl!

I took this picture of Ryan today when he was on his way out to the bus.  He just looked so cute.  Something about the fact that he would NOT open his eyes just made me smile.  He likes to sleep right up till the time he hears his friends.  Of course, I think a lot of school kids would say he's got the right idea and would be jealous that he can get by with it.  :)

A new picture by Jessica

Another Hospital Visit

Ryan had another trip to the ER today.  This time by Ambulance from the school.  We stayed there for most of the day and thankfully were able to return home tonight.  He's doing fine.  His O2 & pulse rates dropped while at school. We don't really know what happened but after an hour of being on O2 and several seizures later, he picked them back up.  Hopefully, it'll be a peaceful night.  I'm thankful for a great staff at the school, an amazing nurse, a wonderful EMS team, great Drs, and my wonderful family & friends ... and of course one tough little Mann.

Long Night

Ryan had therapy at 9 am yesterday, which required waking him early.  Unfortunately that seemed to set off seizures.  In the past 24 hours, Ryan has had approximately 29 seizures, including some where he stopped breathing for 3-5 seconds.  Obviously, I'm waiting to hear back from the Neurologist now.

Today is also the two week marker for the blood work that our Metabolic Geneticist ordered.  I don't know if the test results will be back yet, but I'll certainly call later today to find out.  His office is always great about calling me as soon as they get results, but I think I'll still call this afternoon just in case they're busy.

I also need to schedule a swallow study for him since he's no longer eating by mouth and schedule an appointment with a audiologist for testing since he has almost entirely stopped using his voice.  We want to make sure there isn't a medical reason for either of those issues before we start looking for therapeutic ways to fix them.

And, somewhere in the mix of everything today, we have a lot to get done in school, so I better get off the computer and get the kids moving for the day.  :)  I hope you all have a great day!