Putting all the symptoms together

Hannah had her monthly checkup with Dr. B., her pediatrician.   I realized after this visit that more and more symptoms are starting to come to the surface now…

* Lack of blinking.  I have no clue how long Hannah has had this issue, but we were only made aware of it by someone noticing in an elevator this week.  “Your baby doesn’t blink!”  Sure enough, I have watched her for up to 10 minutes at a time without her taking one blink.  Dr. B. tried it today too, and he was surprised that she was still was acting normal, playing, observing, interacting, etc., yet not blinking.  So, we know it isn’t a seizure or sorts.   After talking to Dr. Sidransky at the NIH, this is not a normal symptom of Gaucher 2/3 kids, so we don’t know if this is related to her Gaucher’s or something completely different.  She WILL blink when she is really tired, however.  I have to call her Dr. Edmund, her neuroopthalmologist, about this.

* Head circumference growing too fast.  For the past couple of months, Dr. B. has noticed Hannah’s head circumference is growing much faster than the rest of her body.  He was a bit concerned about it last month, and after seeing it still growing today, he wants to watch it for one more month.  I contacted Dr. Sidransky about this as well (there was talk of an MRI at her NIH visit but we decided against it because of sedation), and she made the following comment:  “We were interested in doing an MRI of the head because sometimes subtle hydrocephalus (enlargement of the brain ventricles) has been seen in children with Hannah’s mutation. That is why we discussed the sedation with you. It is not necessarily a common finding in neuronopathic GD, but with this observation regarding her head circumference, I feel that the study is clinically warranted, and we can do it when she is here. However, if other symptoms like vomiting or signs of pressure develop acutely and your physician becomes concerned, don’t delay because of the NIH visit. ”

* Motor Delays.  Dr. B. made the comment to me that from this point on, Hannah’s motor development, especially gross motor development, is going to go much slower than the normal child.  We are already seeing that with her hypotonia (low muscle tone) in her lower extremities and the need for orthotics. 

* Breathing issues.  This isn’t really new, but it is something we have been watching.  Basically, Hannah doesn’t cry like a normal baby.  She doesn’t wail, and she can’t scream because she just doesn’t have the lung power.  It is a combination of her lungs being smooshed for so long because her liver and spleen were so big and the hypotonia in her lungs and throat.  She also gets pretty winded after being active for about 5 to 10 minutes (like in therapy or playtime).  Unfortunately, this is where the possible trach would come in if things become more severe.  We just got to hope that they get stronger now that her liver and spleen are getting smaller.

* Ocular Motor Apraxia.  Nothing new to report there.  She has it, and she has supranuclear gaze palsy.  She is learning to thrust her head to get her eyes where they need to go quickly.  For example, if she hears something on the side of her, instead of just turning her head or her eyes like a normal person does, she thrusts her head and neck pretty hard to get her eyes there.

* Food issue.  Yes, we know she has neurological issues with her tongue.  She doesn’t know how to use it to eat solids.  We are working on that.  We are slowly seeing some progress, and when she is “on a roll,” she can finish a jar of baby food in about 45 minutes.  It just takes her a LOT of work to figure it out.  Dr. B. wants us to go to the 9-month+ formula in addition to the baby food.  We are still working with OT on this (actually, they are coming today!).

Just sucks… don’t know what else to say…