NIH visit roundup

Wow, what a whirlwind week this has been!   I will probably create a few posts to share about everything that went on this weekend because there is just that much that has gone on!  But first things first….

Hannah was a great trooper at the NIH this visit.  She was a lot more cranky than usual during the evaluations and consultations, but I think it is more that she is just tired of people poking and proding her.  But, she made it through.

The good news:

  • She surprised many people with how great she physically looked.   What they were looking for was to see if she had failure-to-thrive issues, if she was “cachetic” looking, etc.   She did not look like a baby anymore, definitely a toddler.
  • She has gained in skills.  Even though she is very slow at gaining skills, she still has gained skills since we saw them 8 months ago.  She also has really not lost any skills either.
  • Her EEG and Hammer test were normal.  No seizures! BAER was not able to be determined because Hannah has fluid in her ears.
  • We got to spend time with Dr. Sidransky, Dr. Goker-Alpan, Catherine (the N.P.), and other members of the NIH team discussing not only Hannah but other Gaucher-related issues and even non-Gaucher related issues.   These are just some really amazing, wonderful people.

The concerning issues:

  • Swallowing/Feeding issues.  This was our main concern going into this reevaluation with Beth Solomon.  Hannah had another swallow study done (last one was with Beth 8 months ago).  It has been determined that Hannah is missing a step in the chewing process and does not have the instinct to chew her food before she swallows it.  I don’t have the paperwork with me right now, so I will post the official terminology later.  Long story short, she chews with the front of her mouth but she does not bring things to the back of her mouth to chew smaller before swallowing.  So she just swallows things pretty much whole.  Hence the gagging.  So now it may NOT be the hypersensitive defensive gag reflex or it may be a combination of this gag reflex (we did not try solid foods with Beth) plus this premature swallowing issue.
  • Clonus.  Many of the doctors noticed that Hannah has this shaking of her hands and body when she gets agitated.  We always thought it was just Hannah being shaky because she was upset, but now there may be more to it.  Ever since it has been brought to our attention, we have really noticed that it is more common than just when agitated or upset.  I am still not 100% convinced that it is this “clonus” all this time but may also be part of her hypotonia and poor tone.

The good news is that none of the doctors think she has classic type 2 Gaucher’s anymore.  But that does not necessarily mean that she has type 3 Gaucher’s either.   They believe that she is on a spectrum of neuronopathic Gaucher’s disease and that she is not clear cut in  type.  It all goes back to Dr. Schiffmann’s original thought about Hannah being somewhere between a mild type 2 and a severe type 3.

Dr. Goker-Alpan and Dr. Sidransky think that our next visit in 6 months is really going to be key in seeing where we are in terms of progression of the disease.    They are going to be looking to see if she still continues to learn new skills, keeps growing, how her swallow issues play out (whether she has an immature swallow which she will grow out of or whether it is progression of her disease), her eye movement problems, etc.   I know they are going to do another brain MRI and some other testing just to keep tabs on her, including keeping an eye out for hydrocephalus (water on the brain), which has been noted in the D409H mutation.

Being able to have these incredible doctors take such a personal interest and care of Hannah is such an amazing gift to us.  Even though we are technically there for their “research study,” we left there with such a huge piece of mind knowing what exactly we are dealing with, what we have to keep a close tab on, and what is looking stable right now.  After leaving the NIH this time, we left with a huge weight lifted off of our shoulders.  We just knew where we stood in terms of her health, and those questions that could not be answered are really those that just can not be answered by anyone.

We will see them back in September!


  1. heather says:

    great news! what happened with Robert’s testing?

  2. Sounds like it was a great visit. We see Beth also! We have a nuero appointment today so hopefully I will walk out with a few pediatrician suggestions for you in Vegas!