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!

If you could see my face right now, you would see that I am beaming with pride.

We knew that Hannah’s skills were scattered, but for the most part they were in the 9- to 12-month developmental age area.   But like her being able to read books and turn pages, this is a new skill that she has been working on that is finally clicking.

COLORING!

From the way she holds her crayon (knowing which end to use) to the way she attempts to draw (which may look like chicken scratch to some, but to me it is a site of beauty!)…she is figuring it out.   Her nurses and I have been working with her daily on this skill, and after about a month or so.

Look how proud she gets in these videos – I love it!!

(On a side note, this was right before her afternoon meds, so you can see her movement disorder is pretty distinct.)

Three doctors in one week — my girl made it!

Today we saw Dr. Dezenberg, Hannah’s gastroenterology doctor.  Apparently, he is one of the few doctors that I have not changed since we have moved here!  I love his personality, very easy going.   Also, even though Hannah has a G-tube, she has very few actual GI issues, so it was another easy appointment today (just like yesterday).

We talked about her throwing up during bouts of trachiitis and teething.  We talked about the fundoplication surgery to deal with the throwing and her reflux (we both agree her reflux is under control with the Prevacid and her throwing up has a cause outside of reflux, so we are going to hold off).

We talked about her weight gain.  Surprisingly, she was 26 lb 6 oz naked today!  I was thrilled!  I felt like she had been losing weight this past month with all the throwing up, but she is still right on her track.  Then again, she has been throwing up mostly mucous so…  We talked about changing out her formula to one that is a bit more caloric in density, but since she is still on her growth path with no failure to thrive issues, this is another one we will revisit in the next few months.

Since her granulation tissue is finally starting to go back down since her trachiitis has been gone for a week or so, he did not burn off the remaining tissue.  It was pretty thick there for a while!

We are likely going to be changing her G-tube Mic-Key button to a AMT – Mini button.   The bubble is less round and more elliptical, which will be more comfortable for Hannah when she is moving around.  Also, it is more flexible, which again, will be better for Hannah.  Apparently, they are switching a lot of their patients over to this newer device.  The main reason for doing this, however, is because Hannah has been leaking just a bit out of her Mic-Key because of the granulation tissue, and this new device is supposed to help seal up her stoma site better so less leakage.

Another good appointment day.  We see him back in 3 months unless something comes up!