Archives for December 2010

We had our meeting with Dr Brown today, Hannah’s new neurologist.  This was a followup to the EEG done a couple of weeks ago.

It was definitely a “very abnormal EEG.”   But because it is mostly subclinical at this point (meaning, it is not showing visible seizure symptoms), we are not to get completely freaked out just yet.   It is likely progression from the disease, which is a known process.  But, at this point, we work to control her seizure disorder and lessen the amount of activity she is having subclinically.

So this is the plan.   Wean her off the Haldol (which not only decreases the seizure threshold but also may increase movement disorders instead of help them).  We are cutting her back from 3 times a day (0.125 mL at 2 mg/mL) to twice a day for a week, then once a day for a week, and then done.  As long as there are no worsening symptoms or anything like that, we are to follow up with her in 3 months and see where we are at.  If there are any issues, obviously, we will see her sooner.   Hannah will also get a Keppra level drawn next week to see if she is at therapeutic levels.

We then had the Genzyme dinner meeting this evening.  It was not what I expected, I have to admit.  I assumed that because it was at Dr. Bernstein’s office (Childrens Cancer and Blood Disorders) that we would meet other families who had children with lysosomal storage diseases.  But nope.  It was all adult patients, and Hannah was the only pediatric patient.  There were 3 Gaucher type 1 patients, quite a few Fabry patients, and I think 1 or 2 Pompe disease patients.

I have to admit that I felt out of place because the questions I wanted to ask Dr. Barranger and the Genzyme team were directly related to the neuronopathic form of the disease, obviously.   None of these patients could relate (well, maybe the Pompe patient, not sure).   There also was a time when Dr. Barranger made the comment to the group that “you will likely not die from these diseases” (Pompe, Fabry, Gaucher’s).  I was like — “Um, really?!”   My husband told me I was being too sensitive because Dr. Barranger was speaking to a group of people that all would “likely” survive their disease.  Hannah, unfortunately, likely will not — she was the only one.

The most positive thing I did get out of the meeting was being able to meet the local genzyme team, especially our case manager, whom I just adore!   One thing I can say about Genzyme …. since day 1, every single person I have been in contact with has been very caring, supportive, and understanding.  Even during the fiasco with the Cerezyme shortage, the people I came in contact with were all sympathetic, even when their hands were tied.

I did make one suggestion to the Genzyme team that I will definitely follow up and expand upon.  There needs to be a way for type 2 and 3 families to be able to have their own information meetings, contacts, etc.  There are not enough of us in these metro areas to have physical meetings, but I was thinking maybe every 6 months have a web conference where patients’ caretakers can ask questions of genzyme, experts, etc.

One of the local reps suggested I created a Yahoo mailing list — been there, done that — 2 years ago!  The problem is that unless someone is somewhat internet savvy looking for info, they will never find our mailing list.  We need to be proactive more than that.  So that will be one of my ‘things to do’ in 2011.

First and foremost though, getting this seizure disorder under control before it starts to manifest into something more dangerous, especially having clinical seizures.

Hannah, Ethan, and Abigail got an AMAZING holiday gift this year from my old (in years known, not age!) friends, Julie and Heather.  An iPad!   I so, so, so wanted to get one for Hannah because I have heard so many people talk about the amazing things children with special needs like Hannah can do with them.

It got off to a slow start with Hannah having no clue what to do with it at first, but here we are a week or so later, and she is really starting to get into it!   She has a few favorite apps that we have been working with, but nothing has been her favorite as much as this one.   She will play with it for 20 minutes or so at a time!  What is even better is that we can put some of her favorite music on at the same time (using the iPod feature), so that we can work to a beat or rhythm.

With Hannah’s movement disorder, this app has been wonderful for her.  It forces her to try and concentrate to get her hand where it needs to go, which is difficult because the object keeps moving.  But she absolutely loves it.  Especially when she gets the ‘reward’ of the animals popping up and cheering her on when she touches the iPad, even if she misses the sun!

There are a couple of other great apps that she really likes such as the Baby Piano Lite and the Sound Touch.

One benefit that we didn’t even think about until we got it was that we have something to help keep us busy when we are waiting 30 minutes or more for some of these doctor appointments!  At the neuro’s office before her EEG, we had a 45-minute wait, and so we “turned on” her Wiggles movie after about 15 minutes of waiting and being restless, and she was a happy camper 🙂

I apologize for the darkness of this video, but I only had my phone with me, and it was nighttime.  This was one of those “had to capture” moments watching Abby work with Hannah on her baby rattle sun game.  I love the HUGE grin on Hannah’s face during this video. Abby and Ethan are fantastic teachers with her and so patient!  Such a wonderful, wonderful gift in so many ways.

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!