Pediatrician Visit

We met with Dr. B. this morning for our monthly followup.  I emailed him an update last night so he could have it printed out in his records and so I wouldn’t have to talk about all the details again. 

Few issues:

1.  Abnormal eye movements.  He did notice some abnormal eye movements from Hannah, especially looking upward.  However, he said that if he didn’t know she had Gaucher’s disease that he would have just suspected this was part of her delays and would have waited to see if it improved or got worse.  Obviously, with this diagnosis of type 2 or type 3, it changes things and is definitely something to be monitored. He does think that she has an element of neck stiffness, so he wants us to work on torticollis exercises.

2.  Eating issues.  He is actually more concerned that Hannah is having trouble with solids and that her tongue thrust is still so strong.  He definitely wants OT (occupational therapy) to monitor this and work on this because swallowing issues are a HUGE concern with GD (even Dr. E. yesterday overly stressed this to us). 

3.  Developmental delays.  He is concerned that she may be falling lower off her curve in terms of development, so he told me to ask ECI (early intervention) to do 2-month developmental progress reports instead of 6 months and to give him the results.  He was concerned that she wasn’t transferring items between her hands yet, but she does hold items in both hands.  Obviously, we are delayed in the rolling over aspects, and she isn’t sitting up on her own yet (but that may be because of her big belly).  I talked to J at ECI this morning, and she is going to come weekly instead of every two weeks for her developmental therapy.  Dr. B. did stress that there may come a point in the near future that he may feel that she needs more than ECI can give in terms of therapy, and he has a list of people that he would recommend.  Obviously, as a parent, we will follow his recommendation.

4.  Spleen and liver are still stable.  It has been about three months now, and they haven’t grown any bigger.  The spleen measures 6 cm from the rib cage to the pelvis (shouldn’t be felt at all in a normal child), and the liver was 3cm from the rib cage (should barely be felt).  That and the fact that her platelets have been stable for four months SHOULD mean something, shouldn’t it???  Of course, it could be just my wishful thinking, but I’ll definitely be asking Dr. S., the Gaucher’s specialist, next week.

5.  Future appointments.  Even though Dr. E. said that we only needed to see our pediatrician at normal 6-month intervals for checkups, Dr. B. wants to see Hannah every month to monitor her.  We go back on 3/20 (after Hannah’s appointment with Neuroopthalmology on 3/12).  Also, he wants to make sure that I ask to schedule “well check” time instead of “follow up” time so that he has more time to evaluate Hannah each visit.

6.  Head scratching.  Yep, Hannah is still going to town on her forehead and face with all this scratching.  She got her mitten off the other night.  Dr. B. wants us to put a layer of cortisone cream on the bottom with a layer of neosporin on the top (or mix the two) and cover it with gauze each night.  He thinks it may be related to itching from the original scratching, which is making it worse.

I think that is about it.  Hannah is still growing at 16-1/2 pounds!  He wants me to email him after the Cerezyme treatment on Monday and after we meet with Dr. S. on Thursday.  Some of the comments he made to me during our visit really made it seem like he has spent a lot of time researching Gaucher’s Disease, which I do appreciate, since this is his first patient with a lysosomal storage disease.