We got a copy of the report that Dr. S., the world-reknown Gaucher’s specialist, sent to our genetics doctor. He was very thorough — 2-1/2 pages!
Here are some general abnormal exam findings:
- There was no clear facial dysmorphism that is seen in typical type 2 and some type 3 patients.
- Liver was enlarged at 7 cm below costal margin and spleen’s tip was in the pelvic region 11 cm below left costal margin.
- Eyes seemed normally aligned although epicanthal folds are large.
- She now has supranuclear gaze palsy.
- She alerted to noise but did not turn head towards the noise.
- She does not yet have a pincer grasp.
Impression:
Hannah has neuronopathic Gaucher disease based on saccadic eye movements paresis…It is not possible to determine the prognosis at this stage. It is possible that she may turn out to be a so-called mild type 2 Gaucher patient, but it is generally too early to tell. The early systemic presentation and the saccadic paresis that is also vertical suggest a more severe form of neuropathic Gaucher disease, but it is best just to describe the abnormalities seen at this stage. A form of chornic neuronopathic (type 3) Gaucher disease cannot be excluded at this point.
Hannah is even a mystery to him…
I have a comment on the pincer grasp thing.
First, there are several types of grasp that fall under the pincer grasp category.
Second, TYPICAL kids don’t develop what most therapists consider pincer grasps until between 9-12 months.
Third, I would expect delays in Hannah developing fine motor skills even if she does not have a problem with her hands at this point. Visually, she is not seeing things that typical kids are. Without seeing things “normally” it makes it much more difficult to develop fine motor skills (even if there are not problems with the muscles/nerves in her hands).
Maybe Dr. S is seeing something that is significantly delayed already but I just find it a curious way of describing it.
If you want more of an opinion of this, ask Hannah’s OT. She would be able to comment better on Hannah specifically, but these are just my random musings when I read the comment about pincer grasp.