Hannah did fantastic yesterday during her echocardiogram and EKG.  They did end up sedating her using an oral sedation (she did NOT like the syringe in her mouth, my control-freak child).  She woke up out of the sedation really well, and she was fine for the rest of the day.  They warned us she might be a bit “tipsy” like a drunk, and she sure was.  But she was a “happy drunk” for a couple of hours, laughing at the strangest things.

We met with the Cardiologist this morning.  Hannah does NOT have an ASD (atrial septal defect), but instead they believe she has a PFO (patent foramen ovale).  It is something that is very common, almost 30% of the general population have one.  It can be left alone for the most part unless Hannah developes migraine headaches when she is older, then they can close it.  Otherwise it is just something that will be monitored but left alone!  Great news on that front.

However, they also noticed that Hannah’s aorta is slightly dilated.  This is of some concern, as if it continues to dilate, it could cause an aortic dissection (think John Ritter).   But for now, we are just going to monitor it and do another echo in 6 months.  There are three schools of thought on this:

1. It could be related to Hannah’s D409H genetic mutation, which when homozygous, is known to have the propensity for cardiac calcification issues.  Perhaps her never-before-documented combination could related to aortic issues? 
2. It could not even be related to Hannah’s Gaucher’s Disease, and it is just something “else” we need to keep an eye on.
3. It is just a normal variant for Hannah, and this is the size of her aorta.

In 6 months, we will have a better idea whether or not it is just a normal variant for Hannah or if it is indeed a cardiac issue that is going to have to be closely monitored over the course of her life.

Tomorrow we start Hannah’s workup for her atrial septal defect (hole in the heart) that was discovered when we were at the National Institutes of Health in July.  It “most likely” has nothing to do with her Gaucher’s Disease, but we need to deal with it anyway. 

She is having a sedated echocardiogram tomorrow morning. 

I’m very anxious about it.  I know it is “just” oral sedation, but how the heck are they going to get her to swallow it?  This is my control freak daughter here, who rarely even lets me put a syringe in her mouth for other medicine!

Then, I’m hoping, hoping, hoping that the ASD resolved on its own in the past three months.  Everything I have read says that unless the ASD is pretty serious, it can be monitored for the first few years of life to see if it will close on its own. 

So Tuesday AM is the sedated echocardiogram and Wednesday AM is the consultation with the cardiologist to find out what the echocardiogram shows.

I’m hoping it is already closed so we can not worry about this and file this diagnosis away!

I haven’t been posting as much recently because things have started to calm down a bit, and we are finding ourselves getting into more of a routine with everything.

Hannah is now at 5 therapies a week (PT, OT x2, Dev therapy, and vision). We are still working on getting the speech pathology consultation. She is making great progress in physical therapy, meeting 2 of her 9 long-term goals and 3 of her 5 short-term one-month goals. OT, well, we are slowly making progress as well, adding goldfish to her list of munchies. Still having incredible sensory issues with spoon feeding, so we are still on stage-2 type foods unless they are snack-type foods she feels comfortable gumming on.

Since little Ethan M. and Niamh have passed away, I find myself feeling very sad and even guilty at times. This disease is just so overwhelming emotionally. Hannah is still here, and she is, for the most part, stable in most aspects. I’m so thankful for this, but the “when” is still hanging over my head. I feel guilty because Hannah is still here, at 14 months, and beautiful little children like Niamh and Joseph were hit so hard and taken so early from their families.

It just constantly reminds me that this disease needs more awareness, more research, more funding, etc., but it seems that very, very little is being done in the way of this. I admit that I have had to take a step back from my intensive “search for a …” over the past few months because I was becoming overwhelmed and obsessed, having to reprioritize things in my life because my other children and our family dynamic were starting to be affected.

But I need to do something… I just don’t know what to do anymore.

Today was a good day.  A really good day.

We started our twice-a-week occupational therapy sessions this afternoon.  It was a really rough start because as soon as Hannah saw Pat, the OT, she broke into hysterics and didn’t want anything to do with therapy today.  But I didn’t give in to Hannah this week like I did last week (in which we left 15 minutes after we got there because of her tantrum), and within 20 minutes, we got her calmed down enough to work on feeding issues.

This week was a week of HUGE advancements eating wise.  Hannah started feeding herself Cheerios a few days ago.  Cheerios!  She fed herself Cheerios – this was just such a huge mountain in terms of her eating food. 

Today during OT, Pat brought out some goldfish, dried toddler fruit chunks, and some mushy raspberries.  She ATE them!  We were incredibly patient, especially with the raspberries, because the textures were so different and the tastes were so intense.  But she went for it.  She put them in her mouth!

Best of all, she ate ALL of it!  She has some difficulties with the goldfish, but nothing that practice wouldn’t solve.  She gummed everything.  Then spit it out.  Then put it back in her mouth.  Then spit it out.  Then picked it up again.  It was just awesome!!   This gives us so much hope that she will be eating more real food sooner than later! 

Especially since she has only two teeth still.   Even though she is still gumming the foods, can you imagine how much more control she would have with more teeth?!

But that wasn’t the only step forward we made today.  Just tonight, for the first time, we put Hannah in her crib at night awake (but exhausted), turned on her music, and let her fall asleep in her crib.  And she did!!  Usually she will wake herself up and throw a tantrum because we always would let her fall asleep cuddled up with me.  But I’ve been working hard on trying to get her to fall asleep on our bed either on Daddy or just lying on our bed. 

But she fell asleep in her own crib tonight.   Another step forward.

Can you see the huge smile on my face?

Today is an appointment-free day!  How rare is this, I don’t know what to do! 

We are still working out Hannah’s therapies.  We have increased her OT at TCH to twice a week (Tues and Thurs), still has PT at TCH once a week (Wed), and developmental therapy once a week with ECI (Friday). 

We are in the middle of a vision therapy consultation, as they come visit with Hannah on two different occasions to evaluate her (we have our second this Wednesday). 

I need to call back the speech therapist from ECI to set up a consultation, as we are on the waiting list for TCH’s speech therapy department. 

Lastly, we are waiting on information for the 10-week hydrotherapy course to finalize.  Fortunately, that is being taught by Hannah’s OT, so once that is settled, we are there.

So much therapy, so little time.