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.  :)