After the NIH visit, it seemed like we slowed down quite a bit when it came to seeing doctors. After all, they did do almost every test in the book! But now it is time to follow up on their findings and get some answers…

This doesn’t include Hannah’s therapies that are currently 3 times a week and her Cerezyme treatments every other week!

8/26 – Pediatrician visit (haven’t seen him in two months – well, outside of her birthday party!)
8/31 – Otolaryngology, Dr. Roy, second opinion and expert, regarding Hannah’s vocal cord paresis
9/9 – Pulmonology, Dr. Vece, regarding Hannah’s vocal cord weakness (paresis)
9/14 – Otolaryngology, Dr. Larrier, only if Dr. Roy agrees with her assessment
9/16 – Physical Medicine and Rehabilitation, Dr. Woodbury, to go over Hannah’s therapy plan
9/22 – Nutritionalist, to make sure Hannah is getting what she needs since we still aren’t on solids yet
10/13 – Sedated Echocardiogram, to look at Hannah’s atrial septal defect
10/14 – Cardiology, Dr. Jeffreys, to go over the echocardiogram results
10/29 – NeuroOpthalmology, Dr. Edmund — however, I may cancel that since we are going back to the NIH soon

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.