Archives for August 2009

Hannah wouldn't touch the cake or frosting but she loved gnawing on the candle!

We finally had a great OT day yesterday! 

For the two weeks prior, Hannah would just see Pat, our OT, and she would break into tears.  Up until that point, we had worked on only feeding-related exercises.  Last week, we decided that we would avoid feeding-related therapy for a few weeks and concentrate on fine motor and other motor-related therapies.

So when we got to OT at the hospital yesterday, Hannah saw Pat, and the tears started.  We went directly to the tire swing, and even though Hannah was hesitant at first, she ended up loving it (vestibular exercise).  Pat was impressed how Hannah tried to hold on, balanced her weight wonderful while sitting, and was able to put her hand on to grab a toy in front of her while swinging.   (There are so many things that I learn in OT – to me it was just a swing ride she enjoyed.  To Pat, it was a wealth of information and a huge advancement in Hannah’s motor skills since June).

We then went to the trampoline to see how she would do with that type of motion.  She laid on her back first, then her stomach, and then she was able to sit and play with a toy while the trampoline gently bounced. 

She loved this toy – it was an old Elmo radio with about a dozen nickle-sized buttons that had to be pressed to hear the music.  It only took about 10 minutes, but Hannah figured out how to press those buttons by herself to get the music to come on.  This was huge!

Then Pat brought out the chicken-dance Elmo.  OMG, she just loved this toy!  She would actually stand up, holding one arm on the side of the trampoline railing watching intently and smiled.  We were able to use this toy to practice weight-bearing exercises, and she doesn’t know to how to shift weight on her own yet.

Pat and I talked quite a bit about Hannah’s progress.  To me, I have seen some progress overall.  But when Pat breaks it down into separate little functions, Hannah really has learned quite a bit.  As she called it, Hannah is a “sponge” right now, and she can see why the NIH recommends increasing her therapy.

One thing that makes Hannah unique in this respect is that she has to be taught EVERYTHING.  Things that came naturally to Abigail and Ethan, like putting arms out to balance and break falls while sitting or using her knee to help her stand, have to be methodically taught to her.  Step-by-step.  But she does catch on, that is the fascinating thing.  So many things that I took for granted with the two older kids, all the gross and fine motor skills along with the eating texture skills, they just don’t come naturally to her. 

But Hannah is still progressing.   It may take a lot of work for her, but she does get it.  I’m so proud of her for that.

Hannah hasn’t been herself the last few days, actually, more like the last couple of weeks.  I think part of it had to do with the stomach bug that I had that she probably caught, but she just hasn’t been the always smiling and happy baby lately. 

We had another hyperventilation episode on the way to see Dr. Schiffmann in Dallas.  Third one.  Again, it happened in the car.  I think it it was because she was hungry, and we just weren’t at a stopping place on the freeway.   I hate the term “foaming at the mouth,” but that is the best way to describe it.

Since then, I have noticed a definite change in her breathing situation.  Her hacking laugh has replaced the once adorable little giggle she once had.   When she cries, she starts to get out of breath much quicker. 

It is scaring me.

We are meeting with a new otolaryngologist, Dr. Soham Roy, on 8/31.  He was recommended by my pediatrician, and he isn’t even part of the TCH system (of which all of Hannah’s doctors but Dr. Schiffmann are a part).  One of his expertise areas is that of pediatric vocal cord issues.  We are also meeting with a pulmonologist on 9/9.  Hopefully between the two of them, we can get a handle on what is going on with Hannah’s vocal cords. 

Fortunately, the NIH team’s Beth Solomon said that she would also work with these doctors as well.  That gives us some comfort, as we had a great experience with Beth at the NIH with the laryngoscopy and swallow study.  She is very no-nonsense, and she doesn’t beat around the bush.

The “thing” is that if we didn’t have the vocal cord issues, the only serious disease-related processes that we would be dealing with would be her global developmental delays and her abnormal eye movements, neither of which are life threatening. 

The vocal cord issue?  Life threatening?  Seems like it very well could be.  She needs to be able to breathe.

Four months went by so fast from Hannah’s 8-month DAYC summary testing.

• Cognitive Age Equivalent – 10 months
  (at 8-month assessment, she was assessed at 8-month level
• Communication Age Equivalent – 8 months
  (at 8-month assessment, she was assessed at 6-month level)
• Social-Emotional Age Equivalent – 14 months
  (at 8-month assessment, she was assessed at 11-month level)
• Physical Age Equivalent – 8 months
  (at 8-month assessment, she was assessed at 4-month level)
• Adaptive Behavior Age Equivalent – 9 months
  (at 8-month assessment, she was assessed at 5-month level)

At least she is still gaining skills.  Dr. B., our pediatrician, warned me months ago that the gap between where Hannah is and where other kids her age are is going to keep getting wider from here on out.  I can start to see that now, especially when I see Hannah with other kids her own age and younger.

These results, along with the NIH’s neurological examination impression that Hannah is at a 4 – 6 months level neurologically at 11-1/2 months, definitely shows the obvious affects this disease has on her.  This is, by definition, neuronopathic. 

The only positive out of all of this is that Hannah doesn’t seem to know any different.  Her skills truly are scattered, all over the place.  I mean, she still can’t get to a sitting position from a lying down position yet she can stand and hold on to a walker for 10 to 15 minutes, even just using one hand for a minute or so while she plays.

The next assessment at 16 months is going to be very telling in terms of progression of her disease.  It is starting to make sense why both Dr. Schiffmann wants to see her back in 4 months and the team at the NIH wants to see her in 4 to 6 months.

I feel so lucky to have so many good people in my life. 

After my vent the other day, I have received such an wonderful outpouring of hugs and suggestions.   This is why I share my heart here.   I couldn’t even begin to list everyone because I would be afraid of not being able to list them all. 

• To people like Petula and Sarah, who gave me suggestions as to at home jobs I never even knew about and definitely am looking into.
• To people like Nancy and Christine, moms of type 1 older children, who shared their struggles before there was a treatment for GD and offered support.
• To people like Melissa who offered to help with legal advice.
• To people like Larry who care for Hannah is just immeasurable.
• To people like Heather, Julie, Tracy, Manette, Kelly, Misty, etc., who travel hundreds of miles just to spend Hannah’s birthday with us.
• To people like Cassie, my sister-in-law, who is one of Hannah’s biggest advocates, who has given us so much more than I could even begin thank her for.
• To people like Dr. Bhakta, Dr. Weinreb, Dr. Schiffmann, Dr. Goker-Alpan, Dr. Sidransky, Catherine, everyone at the NGF, Kathleen at Genzyme, and other “professionals” who are involved with Hannah’s care and show such a personal interest in her well being.
• To other “special kid” moms like Karen, Melenie, Jessica, Nicole, Laura, Cristina, Melissa, Amanda, etc., who have been my personal support group, understanding what I am going through, and having them there to share the day-to-day struggles
• To my neighbors like Jill, Lauren, Megan, Tasha, Maria, Paula, etc., who always seem to be there when I need them.
• To my hubby…the best man in the entire world…best husband, best friend, just the best.

The list goes on and on.  It really does.  This is only just a small portion of the wonderful people that having Hannah in my life has brought me.

If we had the money…

• I would not have to worry about going back to work and would be able to take care of Hannah – talk about lifting 500 tons of stress off my shoulders!
• I would hire a part-time (12 to 15 hrs a week) “special needs” baby sitter to take care of and play (therapy work) with Hannah while I could have a few hours every couple of  days to
  • get house stuff (bills/phone calls/research/cleaning) done
  • start working out and taking care of myself – can’t remember the last time I read a book or scrapbooked!
  • work on raising funds for and researching/organizing what GD, PD, Alz, and LSD research is out there
  • take time to plan out real dinners, organize coupons, and actually cook
• I would hire a cleaning crew to come to our house once a week so instead of concentrating on laundry/cleaning/etc., I could concentrate on all three kids yet not have the stress of a messy house
• I would try and find some kind of social groups that I could take Hannah to so she could learn to socialize with other children around her age

I have to admit.  The thought of having to go to work in a few months is killing me.  I WANT to be the one taking care of Hannah during the day, taking her to her appts and therapies and treatments.  I WANT to be home for Ethan and Abby when they get home from school.  I DO NOT WANT to put Hannah into a regular daycare setting where they are most likely not equipped to handle her special needs — what if she gets really upset for some reason (which happens), and she starts hyperventilating.  I am the only one right now who can calm her down…not even Daddy or the other kids.  It is killing me that she could have an episode like this — I don’t know what would happen if she hyperventilates too long. 

Not only that, but how can I get a job yet be able to go downtown every other Monday for her IV Cerezyme infusion?  What school administrator is going to say – sure, we’ll hire you as a teacher and no problem taking off every other Monday.  Home Health isn’t an option because of her age, so it has to be administered in the hospital setting, which is only available during the week.  And her doctor appointments of which there are many — who is going to take her to those?  Do I take more time off for that? 

So, whoever said “money can’t buy happiness” is full of crap.  It could buy me peace of mind that I can be the one to take care of my family, not stress about paying the bills, and it would relieve a lot of anxiety and tension in the house that is being caused by “mommy will have to go back to work.”

Vent over… back to real life…

Brainstem dysfunction. 

This is the term that both Dr. Goker-Alpan and Dr. Schiffmann used to describe Hannah’s neuronopathic Gaucher symptoms.   For whatever reason, I didn’t flinch when we talked about her abnormal eye movements (supranuclear gaze palsy, ocular motor apraxia), her vocal cord paresis (weakness), or even her developmental delays. 

But for some reason, calling it “brainstem dysfunction” just seems like a permanent knife in the heart, you know?

Dr. Schiffmann wants to see Hannah back in 4 months, and we go back to the NIH right after that for an EEG to check for seizure activity (and other consultations).  Seizure activity on the EEG, even if we don’t see Hannah having seizures, seems to be the next thing to look for.  That and problems with her internal hearing (need to try and complete a BAER/ABR study). 

Brainstem dysfunction.