NIH Day #1, complete!

Hannah did pretty good her first day of testing!

The morning started with meeting with Dr. Goker-Alpan, Catherine (the nurse coordinator), and Dr. Sidransky. They all separately commented on how they couldn’t believe how much Hannah has grown! They all commented how she totally looks like a toddler now and lost the baby look. But the best part of all was just hearing their pleasure at how good Hannah looks in terms of appearance, size, etc. No failure-to-thrive baby here!

We had a really rough night last night, as Hannah woke up almost every hour on the hour. So by the time she had her appointment for her EEG, she was exhausted. She slept through her EEG, the BAER (two trials), and even the Hammer test (two trials). The technician, Mike, could not believe that she slept through EVERYTHING, and that he was able to get two run throughs of the BAER and Hammer test! At least we know that whatever results we get, they had good data to go through.

We came back to the hotel afterwards, and everyone played for a while.

Then, we had to go back at 7:00 pm for a neuro appointment. Hannah was just NOT in the mood, and she had such a tantrum when the neurologist was examining her that her face was bright red, sweating, and she was ready to start hyperventilating. Nothing would distract her, not even her Mickey Mouse Clubhouse DVD. That appointment lasted a whole 10 minutes.

We were able to calm her down enough for our 8:00 pm appointment with Dr. Goker-Alpan. Hannah was back to normal, and spent the time just watching her Mickey Mouse DVD. It was a great conversation, and it gave us a good basis to start the week in terms of what to expect from the tests, the visit, etc.

Tomorrow we start with her abdominal ultrasound, skeletal xrays, and then we have something else in the afternoon.

The interesting “add” to the list is that they are going to do some testing on Daddy, as they are very interested in study more about the D409H gene mutation that he has. So, they are going to do an echocardiogram on him as well, as D409H historically is associated with cardiac calcification issues and hydrocephalus (studied as D409H/D409H homozygous GD).

NIH itinerary – the list!

We just got our list of tests and consultations that they are going to be doing on Hannah next week.   Fortunately, they have spaced them out so that she only has 2 or 3 things a day!

• EEG
• BAER (hearing test to see if she is hearing things correctly)
• Neurology evaluation
• Abdominal ultrasound
• Skeletal X-rays
• Swallow/Speech evaluation
• NeuroOpthalmology
• PT/OT consultation
• Genetic counselor

Fortunately, none of these will require IV or sedation like the MRI and CT scan last time.

Preparing for the National Institutes of Health Visit

I can’t believe that it has been 8 months since we last visited the NIH!  Time definitely flies by.

I’m not expecting any real surprises, but honestly, that is what I am anxious about.  Hannah is known to surprise us and throw things into the mix, so I don’t want any surprises.  I know that she is doing another EEG, BAER study, meeting with PT/OT, having another abdominal ultrasound and/or CT scan, and a couple other things.  Nothing as drastic as having to be sedated for an MRI or having to deal with an IV this time, thank goodness!

I’m looking forward to seeing Dr. Sidransky, Dr. Goker-Alpan, and Catherine, their coordinator.   They are such wonderful, down-to-earth, and caring specialists.  We really felt like they were taking a personal interest in Hannah, spent quality time with our family, that she was just not another number.

What do I hope to leave this visit with?  Good news.   But honestly, I just want to know exactly how Hannah is doing in relation to this disease.  They are the ones who can tell us this more than anyone (even continuing our “no prognosis at this point” is good news!)

EEG over and done

Hannah had her sleep-deprived EEG yesterday.

Considering she had woken up at 5:30 am on her own (she was hungry) and I had to keep her up until 1:00 pm, she did pretty well.  It was much more involved than the EEG she did at the NIH where she slept the entire time, especially when they put on the electrodes.

Unfortunately, she did NOT like the electrode placement.  She was exhausted, having someone mess with her hair with goop and gels, and she just did not want to have any of it.  But she made it through, and she went right to sleep as soon as she the technician walked out of the room.

They let her sleep for about 20 minutes or so, then they had to wake her up for another 20 minutes or so.  She did not want to be woken up, but she was somewhat willing to play toys with me in the bed.  Then they did the photic stimulation strobe light thing for about 5 minutes (talk about annoying!).

The entire process was almost 2-1/2 hours.  I’m so proud of her.  She really did fantastic considering we couldn’t really explain things to her plus the fact she was just exhausted.  Surprisingly, she did not fall asleep on the way home, but she did take a nap around 6 pm for about 30 minutes, and then fell asleep for the night around 8:30 pm.

We should get the results in a week.  In my heart, I really don’t think she is having seizures.  I hope to be proven right.

Proof that Cerezyme is working!

Hannah had her fourth Gaucher marker bloodwork done a few weeks ago before her Cerezyme treatment.  We have been seeing definite improvement in her Gaucher biomarkers, and now that we are 9 months into Cerezyme treatments, I got the following email from her genetics doctor:

Gaucher monitoring results from Sept 2009 were good and improved from May 2009.  All three showed reduction from May (the trend we want to see) and two of three (angiotensin and chito) are now in normal range.  Since Hannah has shown good response with regard to these markers, we do not need to monitor so frequently. 

Normal range!!  Two of the three are in the normal range!!  They were between 8 to 20 times the normal value when we started 9 months ago!!!   I’m so thrilled to see such a great improvement, especially since her dosage hasn’t been raised since we started (it is based on weight).  I can’t wait to see what her liver and spleen are measured at next week when we see Dr. B., her pediatrician. 

THIS is great news!   If only the Cerezyme crossed the blood-brain barrier…

Time to deal with Cardiology and Hannah’s ASD

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!

Finally, something not to worry about!

It has been so incredibly busy for the past two days, and the next two days are just as busy!  Taking care of Hannah and her appointments/therapies really has become a full-time job lately.  Leaving the house in the morning and getting home MINUTES before Ethan and Abigail’s bus gets here from school.

Anyway, we met with the pulmonologist, Dr. Timothy Vece, regarding Hannah’s breathing situation.  He agrees with Dr. Roy (ENT) and the NIH team that her breathing issues is caused by a combination of her vocal cord paresis and her laryngomalacia.  Her pulse ox was at 100%.  She had a crying episode during this visit, and he was able to listen to her lungs during it.  Her lungs sounded clear. 

He wants to take a look at the CT Chest scan done at the NIH that documented interstitial lung disease with no clinical findings and follow up on that end of things. 

But other than that, he just wants to follow up with us in 6 months — sooner if something should come up.  But her lungs look clear for now!  No clinical Gaucher disease involvement, which is great news, because some neuronopathic Gaucher kids can have moderate to severe involvement of Gaucher disease in the lungs.

Finally, something (the lungs) we can just not worry about for now

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