This has been an incredibly busy week for me and Hannah.  So much so that when I realized tomorrow was actually Thursday already, it took me by surprise!

Monday, she had her Cerezyme treatment.  Slept the entire 2-1/2 hours.  It was actually kind of worrisome towards the end because she was so exhausted that she did not even wake up when nurse Mary took out her IV.   We also got to see Dr. Bernstein, Hannah’s local specialist, so that was a treat as well.  He is one of the very few docs here that I absolutely feel confident with here in Vegas (a rare feeling, I tell ya!)

Tuesday was her physical therapy with her new PT, Tracy.  This was our second visit with her, and Hannah really feels comfy with her.  Such a relief!  She spent 15 minutes on the swing with her, sitting criss-cross applesauce, balancing her core.  No complaints whatsoever!  What I would give to get a swing in the house like that LOL (not possible in this house).  Then she sat criss-cross again in front of Tracy while working with different toys.  Check out the video below — this was their FIRST meeting last week, I have never seen Hannah so relaxed with a new therapist!

I got a lot out of just our two sessions with Tracy so far.  1]  I need to find a very low bench that Hannah can sit non-W style with toys in front of her.  Something like this.  Of course, there is no way I would spend that much money on a little bench, but it should be so easy to make.  Just some wood, covered with foam and then vinyl padding.  So I told Daddy he has a project for the new year.  Do the wood frame, and I can do the rest!

Also, I need to focus on getting Hannah toys that force her to get either up on her knees (like a meercat), stand (with assistance) or can be played with criss-cross legs, such as this one (which her nurse told me NOT to get because that is what she wants to get Hannah for Christmas).

Wednesday was a two-fer doctor day.  We met with our pediatrician in the morning.   I really, really like her.  (She is not like our beloved Doctor B from Texas, but I don’t know if we will ever find anyone like him.)   We talked about the seizures, her throwing-up mucous and/or saliva, therapy equipment, meds, etc.  Basically got caught up for the past two months.   We talked about how her ENT, pulmo, nor her GI doc would take the lead on this throwing up issue.

Hannah has all the signs of allergies (swollen red nose inside, ears, etc.).  So she wants us to add Nasonex to our daily regimen to see if that helps control the post-nasal drip.  Both her and Hannah’s nurses think that is what she has been swallowing so much of and that is what she is throwing up (it is always clear, rarely ever formula in it).

We also talked about getting Hannah a therapeutic toddler chair because she needs the support of arms, back, etc.    She gave us a prescription for the Rifton Toddler Chair, but we will see if our insurance or Medicaid will actually cover it.  With what she needs with this chair adaptive-wise, it is a $500 chair!  (It is crazy how much special needs equipment is).  Hannah also needs a full-support chair for the dinner table now because she is too big for her high chair, but instead of spending $300 on it, we are going to purchase a car seat with a 5-point harness and just attach it to the chair.

This afternoon we met with Dr. John Barranger.  He is one of the members of the National Gaucher Foundation board and a special in Gaucher and other lysosomal storage diseases.  He was in town to meet with some of Dr. Bernstein’s LSD families, so it was treat to meet with him.  Also, our case managers from Genzyme were there, and it was great being able to introduce them to my little miss Hannah!   One of them looked just like my dad’s Aunt many years ago, and I had to do a double-take!  It was a very busy place in that little exam room, as it was Dr. Bernstein, Dr. Barranger, Hannah’s nurse, Nurse Mary (from Dr. Bernstein’s office), the two genzyme reps, and two or three residents shadowing Dr. Bernstein.  Needless to say, Hannah was NOT impressed whatsoever! LOL

Dr. Barranger didn’t really give me any new info, but I didn’t expect him too.    He talked about Hannah being on the 2/3 spectrum, and that she definitely did not show signs of being a classic type 2 (no spasticity, no arching, etc.).    He talked to us about having to ‘prepare for the reality’ of Hannah’s disease, which I’m not sure he realizes that we are very realistic in her situation (even the docs at the NIH commented on it during our last visit), apparently more so than most families he comes across.  I told him what I tell everyone — our goal is to keep her happy and pain-free for as long as she is with us.   But overall, it was a great visit.  Such a caring doctor, nice man.

We get to see him again on Friday night for a dinner Genzyme is hosting at Dr. Bernstein’s office.    I am looking forward to it as it will be nice to meet other LSD families (hopefully!) and talk with Hannah’s case manager, Fran, who has been such a huge help getting us settled in Vegas so quickly!

Thursday, we have OT.  Haven’t had as much luck for the past few weeks with that, but try, try again!  We also have a meeting with our nursing case manager tomorrow at the house to recertify us because of our insurance changes.

Friday is the big day.  We meet with our neurologist at 10 am to come up with a game plan to battle these seizures.   Dr. Barranger talked about it also being probable progression of her disease, but that in some cases, it can be controlled enough to not affect her daily life so much.  Keeping our fingers crossed because that is our goal!   We also have Hannah’s EI therapist coming to our house, which I know Hannah will enjoy.

Phew, I’m just tired thinking about it!  No wonder I crashed at 8 pm tonight (and woke up at 1 am for my ‘night shift.’

Here is the video of Hannah and her new PT on their first day, first few minutes.  Hannah was just loving the swing.  Usually she stiffens up when she feels unsupported, but she relaxed within minutes here! It is only about 20 seconds long, but just seeing how comfy here was amazing!

Technically, it is Thanksgiving day.

I have to admit that I have been pretty shaken up by this whole “lots of seizures” thing.  Especially when I was looking through my three cellphone photos of the EEG and found one that was completely filled with seizure activity for that period not just a quick blip.

Last night, Hannah woke up around 2 am and stayed awake until about 4 am.  Now, I know it wasn’t her movement disorder that woke her up, it was the constant twitching from the seizures.  The worst part was when I finally got her back into sleep mode and she was laying in my arms, she was dozing off and she started the muscle twitches again.

I wanted to cry.  My baby girl was having seizures right then and there…in my arms.  There was nothing I could do to stop it.  Then I felt so incredibly bad for her.  I can’t imagine what it must feel like?  Does she feel them?  I hope she isn’t in any pain or anything.

Then I started feeling guilty for doing this to her.   I mean, seriously guilty.    Probably moreso than I ever have before.

I walked downstairs after I woke up this morning and saw Hannah playing with her nurse.  I felt that overwhelming guilt again and just had to cradle her up and smother her with kisses.  She grinned hugely, and she melted my heart like she has done so many times.

December 3rd can’t get here soon enough when we see her neuro regarding the results.  I only pray that we can get these seizures under control somehow.  Perhaps we have been medically concentrating on her movement disorder so much that we have been focusing too much in the wrong place?    But then again both Klonopin and Keppra help control seizures.  However, Haldol decreases the seizure threshold.  Have we been playing seizure tug-of-war with her meds?

I know, feeling guilty isn’t healthy.  But the last thing I want is for Hannah to suffer in any way whatsoever.  Delays are fine, she has already compensated with her eye movements, and she has gotten used to her Gtube and Trach.  But with those she is not physically suffering.

Seizures are another story.  Put things into a whole new perspective now.  I have actually found myself scared that I am going to lose her sooner than later.  I haven’t felt this way since this summer when she was hospitalized.   But now I can’t seem to shake this fear.

Hannah had her EEG today at her new neuro’s office.

The past 5 EEGs she has had, including her 24-hour EEG in the PICU this summer, had all comed back normal.

Today’s was not normal.

Hannah had fallen asleep pretty much immediately after the test began, so they were able to get a clean EEG.  Once she had fallen into a deeper sleep, her nurse and I noticed the seizures on the screen.  The EEG tech also confirmed they were seizures (even though she was not supposed to).  They were happening every 30 seconds or so towards the end of testing when she was in a deeper sleep.

The interesting thing was that what we thought was Hannah’s movements from her movement disorder during her sleep was actually seizure activity.  Every time Hannah twitched in her sleep, a seizure was noticed on the EEG (see pic on the left side – that is a seizure).

What this means?  Progression, obviously.  However to what extent is what needs to be researched.  We meet with the neuro on 12/3 to come up with a game plan.  She is already on Keppra so does that mean the Keppra has been blocking some of the seizure activity perhaps, maybe not?

I talked to Dr. Goker-Alpan, Hannah’s pediatrician from the NIH, today afterwards.  She reassured me that these seizures are somewhat common in type 3 patients and are not as worrisome as I felt they were.  The fact that she is not becoming hypoxic, her O2 saturations don’t drop, and she does not have any shaking activity means that it is not as intense as I feared.  I’m going to send her and her other specialists a copy of the EEG report when I get it.

Progressive myoclonic epilepsy is documented in kids with neuronopathic Gaucher disease.   After reading the description on Wikipedia, it sounds like it could match the symptoms Hannah has.  “Myoclonic seizures involve brief involuntary muscle twitching, and may become frequent enough to be disabling….Tonic-clonic seizures have two phases: the tonic phase may last a few seconds and involves the muscles tensing, and may lead to the person falling down; the clonic phase involves a convulsion of rapidly alternating muscle tensing and relaxing. Neurological dysfunction includes difficulty coordinating muscle movements (ataxia) and a decline in cognitive ability (dementia).”

Regardless, it just sucks.

I shed happy tears today.

I was watching some of the speakers from the National Gaucher Foundation Conference that was put online from the Gaucher Disease conference a couple of weeks ago.  I would have loved to have been able to go, but there was just no way.  Fortunately, Josephine’s dad was able to go and kept me constantly updated (thanks, Ed!)

One of the speakers, Dr. Weinreb, did a presentation on the Gaucher Disease registry.  It is a very important research tool for Gaucher Disease.   He is also, what I consider, Hannah’s guardian angel.  I have never met the man (hope to in February out here!), but he has been my lifeline since learning that GD was even a possibility for Hannah.  He has always been able to break things down in more layman’s terms for me, and he has let me bounce ideas and vent my frustrations.  Just a wonderful, wonderful person.

Anyway, it was an incredible surprise to see that Dr. Weinreb featured Hannah in his presentation!  If you go to minute 31-ish, you will see his discussion on her, her GD, and how Hannah should remind researchers that kids like her (GD2 and GD3) are to be considered a “celebration of life” and not to be written off.   Click here for his presentation.

It just made me realize that Hannah really has made an impact in the world of Gaucher Disease research, so much so that I need to step up my game in 2011!

Another very important video I encourage others to watch is the one regarding GD2 and GD3 by Dr. Raphael Schiffmann.  We had met him a few times, and he is another wonderful doctor and researcher.    The last 7 minutes or so are incredibly moving including Josephine’s dad’s plea to researchers not to forget about the nGD kids and with Dr. Grabowski’s startling demographics regarding nGD on the other side of the world.

You know, every single one of the Gaucher specialists that I have met so far on this journey (Sidransky, Goker-Alpan, Lopez, Schiffmann, etc.) have been fantastic, passionate, and just caring people.

Click here for all the videos from the conference.  I hope to make it in 2011!

I remember a time before Hannah was hospitalized this summer that I was so proud that Hannah did not need that many medications.   She was just taking her Cerezyme (every two weeks), polyvisol (morning), Mylicon (three times a day), and Prevacid (twice a day).  The last three by bottle.  That was it!

Fast forward to today.

Hannah’s morning meds:

*  Keppra
*  Klonopin
*  Haldol
*  Motrin
*  Zyrtec
*  Polyvisol
*  Prevacid
*  Mylicon

At 2 pm, she gets Keppra, Klonopin, Haldol, and Mylicon.

At nighttime, she gets a repeat of all her morning meds except for the Polyvisol.

That is 19 syringes of medication into her g-tube every single day.  No wonder CVS Pharmacy loves us.

Because of Hannah’s trach, somebody has to do the ‘night shift’ with her.   There are a multitude of reasons:

• On quite a few occasions, she has pulled out her trach at night.  Since she has no breathing issues, we wouldn’t be able to tell.  The trach hole (stoma) starts to close up very quickly, and if we don’t have the trach back in within 20 minutes or so, it becomes much more difficult to get it back in.  A few hours, and it would be impossible.
• She gets junky at night.   Trachiitis, allergies, whatever… she needs suctioning at night sometimes to help her be comfortable.  If we don’t suction her in time, she wakes up coughing.
• She wakes up anywhere from 2 am to 6 am.   Depending on ‘whatever’ (no rhyme or reason sometimes), Hannah just decides to wake up and stays up for about 2 hours before falling back asleep.   If we can get her to sleep until 5 am, then we are happy campers.  6 am?  Even happier.  7 am?  Rare, but wow, wouldn’t that be great!
• Feedings.  Because she needs extra calories to keep her body weight maintained (hypermetabolic), she needs to be fed at night.  60 mL every 45 minutes or so (240 mL).
• If she sleeps with her trach collar, someone has to be there to watch her.  She moves around a lot and can pull it out, get tangled, or even yank her trach out with it.
• She gets dry too.  When she is junky, we take off her trach collar and HME (plastic humidifier on her trach) so she can dry out.  Catch-22 is sometimes she gets too dry, and then she needs to either have a nebulizer/saline treatment or just some saline drops.

Usually families of trach kids take advantage of their nursing time to have the nurse come at night so they can sleep.   Hannah is not on a vent (thank goodness), so we only get 8 hours a day, 6 days a week.   Our nurses come from 9 am until 5 pm, Monday through Saturday.

Because of Ethan and Abigail, I decided to have nursing during the day so that I could have quality time with them after school until the nurse leaves at 5 pm.  Also, it is so helpful to have the nurse come along with me to appointments because Hannah, as you know by now, does not do so well in the car much of the time.

So I stay up, every night, until at least 4 am or 5 am.  Daddy will take over at 5 am.   If Daddy does not have an early morning out for work, I am lucky and get to sleep until around 8 am or 9 am.   (If not, I suffer getting the kids up and ready at 6:30 am — thank goodness we carpool with another wonderful family so they do the morning ride at 8 am!).  I will also crash/nap during the day for anywhere between 2 to 3 hours.   Sometimes I don’t even get that because Hannah may have a doctor’s appointment or therapy appointment.  On the rare days, I will actually sleep from about 5 am until 1 pm in the afternoon – just in time for carpool!

I’m completely exhausted.  I know it is not healthy.  I feel like I waste much of my day.  But I feel this is a sacrifice I have to make for our family.   Saturdays are the best – because we can leave Hannah at home with the nurse and we can take Ethan and Abigail out.  Even though we make it a point to do events with Hannah, sometimes the older kids just need some “them” time.

You would think I would be getting a lot done at these wee hours of the night.  But no, I am too tired.  I see 4 laundry baskets that need to be put away, and I just can’t get motivated to do it.   I am too tired to read, although I do admit to taking advantage of one or two free Kindle books that I can read on my laptop (I have yet to finish a book, but even a chapter or two of escape is nice).

Our insurance changes on December 1st.  That along with Hannah’ s medicaid, I hope will open up some more hours for us.   Daddy and I have talked about having to do some night shifts for Hannah because I just don’t know how much longer I can do this.  I hate feeling completely unproductive, always too tired to do anything.   As soon as we get the new Cigna policy, I can get set up with a case manager and find out how this will affect our nursing and take it from there.

Meanwhile — it is 12:07 am.  4 to 5 hours left to go.  Off to do another feeding!