During the past week, Hannah is starting to master the ability to roll from her tummy-time position to her back!!  We are so proud 🙂  Tummy time has also become a bit easier on her, as she can last at least 5 minutes (sometimes a bit more) on her stomach. 

As for turning from back to front, she can definitely lean to the side she wants to roll over to.  Unfortunately, her huge abdomen (because of her enlarged spleen and liver) kind of acts like an anchor, so she can’t get the push to make that final roll over. 

But she loves standing up.  All I have to do is to hold her by the hips to steady her, and she will stand there for over a minute.  She loves it!  When her knees give out, she quickly tries to get back up in a standing position.  It is so cute because she acts like a little crane overlooking the world — she looks at everything from the view up there.  (I should get a video of that!)

One of the reasons I blog all of this is that it is therapeutic for me.  (Also, my brain and thoughts are all over the place, and since I am not the most organized of people, having all my notes, thoughts, and feelings in one place makes it easier for me to be organized.)  Maureen brought up such good points here that she made me really take a step back and look at the bigger picture today after the phone call below.

After what happened yesterday with Dr. G’s nurse coordinator, I sent an email to Dr. W., Hannah’s guardian angel (and top Gaucher’s specialist) from back east to touch base.  I also asked if he knew Dr. E. (to see if she really was a world-reknown pediatrician in lysosomal storage diseases).  Here was his response…”Dr. E. is a superb physician and wonderful person. She is an excellent geneticist whom I know personally. She did some of her training at XYZ and I am sure that she encountered some Gaucher patients there. I always think of her, however, more in terms of Fabry disease, a condition in which she is a world expert, and perhaps that’s why I didn’t mention her name previously. If it doesn’t raise too many political hackles, having her involved in Hannah’s care can only be beneficial!”

As I was driving home from picking up Little Girl A from preschool (along with Big Boy E and Hannah in the car), I got a phone call from an “unknown number.”  It was Dr. E., the director of the genetics department at the hospital that I mentioned below, and Dr. G’s boss.  She was very nice.  She just wanted to introduce herself to me, share her credentials, and to let me know that she will be taking over coverage of Hannah’s infusions (apparently Dr. G. doesn’t have infusion priviledges, so it all has to go through her anyway).  She also offered to take over complete coverage of Hannah’s care if we decide to.  She asked me if I wanted to set up a consultation with her so she can review Hannah’s case.

I took into consideration what Dr. W. said, what happened yesterday on the phone with Dr. G’s nurse coordinator, and the fact that I am now realizing that Hannah is a very unique Gaucher’s case (which means she will get special attention because apparently doctors like a challenge), my husband and I decided we are going to go ahead and switch to Dr. E’s service.  She only has clinic hours on Wednesdays, but she wants us to meet us at the Infusion Center on next Thursday to do a consultation and to give us a tour of the infusion center and what to expect.

It is so strange having Hannah be so “popular” among the doctors.  Where at one point we felt like she was being neglected, we now feel like she is being fought over.  Even having Dr. W. be there with answers to every single one of my questions within a few hours and showing such a true compassion for Hannah has been a godsend for us.  Just knowing that she is in the hands of two world-reknown Gaucher experts and another expert in lysosomal storage diseases is just a nice comforting blanket for us.  (I hope I don’t regret saying this!)

Frontal Bossing

I finally got a copy of Hannah’s records from the hospital where all of her specialists are downtown.  Dr. G., the genetics doctor, wrote a letter to Hannah’s pediatrician, Dr. B.  regarding our last visit.  He mentioned he noticed “frontal bossing” on her forehead. 

According to the NIH, frontal bossing is an unusually prominent forehead, sometimes associated with a heavier than normal brow ridge.  Frontal bossing is seen only in a few rare syndromes, including acromegaly, a chronic disorder caused by too much growth hormone, which leads to enlargement of the bones of the face, jaw, hands, feet, and skull.

Hannah definitely has a very pronounced forehead, just like in this picture.  I’ve noticed it since birth.  I brought it up to Dr. B., our pediatrician, and he didn’t seem to concerned about it.  I can’t find much about a relationship between Gaucher’s Disease and frontal bossing online, but this is definitely something I’m going to bring up with Dr. S., the Gaucher’s specialist, in two weeks when we see him.

Would you believe I’m just now getting around to be able to blog something that happened this morning?  Crazy day!

I got a call from Dr. G’s nurse coordinator today (Hannah’s genetics doctor).  She wanted to know why we were switching to Dr. E. (the head of the genetics dept whose own nurse coordinator called me yesterday to set up an appointment and tell me Dr. E. is taking Hannah’s case now).  Long story short, but there is definitely some politicking (?) going around up there regarding Hannah.  From what I gathered, Dr. E. really doesn’t take on new cases anymore, but Hannah is such a unique case that she wanted to take it over firsthand from Dr. G. 

I was SO uncomfortable during that conversation because wanted to know why we wanted to switch to Dr. E. and if we sought her out directly.  I told her the only doctor we sought out was Dr. S., the Gaucher’s type 3 specialist up in Dallas.  I didn’t even know who Dr. E. was before I was told we were being changed.  When I explained that when Dr. E’s nurse coordinator called yesterday, she acted as if it was already done, so we just assumed it was right (since our Genzyme rep told us it was coming).  Dr. G’s nurse coordinator kept saying how “Hannah is still Dr. G’s patient now” and how we need to choose between Dr. G. and Dr. E. for lead care of Hannah. 

I guess I should feel positive that Hannah’s care is being “fought over” and not being neglected.   But it really comes down to this — when given the option (and apparently I do have one), would I prefer someone who has studied Gaucher’s disease extensively along with other lysosomal storage diseases and is the director of genetics at this hospital or would I prefer to stay with the genetics doctor we have had all along who isn’t that familiar with it.  Honestly, it seems pretty clear what to choose.

Fortunately, we are seeing Dr. S., the Gaucher’s type 3 specialist, up in Dallas on 2/12, so hopefully we will get a lot of insight into GD.  I also plan to ask him about Dr. E. and see if she really is as “top notch” in this specialty as it seems on paper.

I was checking out the website page for the hospital’s infusion center for Hannah’s IV Enzyme Replacement Therapy (Cerezyme) treatments. It looks like they really do try to make the patient’s comfortable.

I definitely think I’m going to bring a Wiggles DVD for Hannah and headphones, as that is the only thing she loves to watch on TV. I just can’t figure out how I’m supposed to keep her quiet and relaxed for 3+ hours.

Features:
* scheduled IV treatments that include preparation and post therapy observation time;
* experienced nurse clinicians who specialize in IV treatments;
* relaxing infusion chairs equipped with TV, DVD and VCR capability—patients can bring headphones, if desired; and
* waiting area for families.

Patients may bring their own DVDs, Nintendo® or Xbox games, books or any items that bring comfort. The Infusion Center has a limited number of movies, games and reading material available for patient/ family use.

When I first created my Hope for Hannah cause on Facebook, my realistic goal was to max out at about 100 or so members.  We hit 400 members today.  I figure probably 90% of them had never heard of Gaucher’s Disease before, and that is a lot of awareness that we have created so far.  I do have plans to ask of the members in the future, but for now, my main goal is to just “spread the word” and let people know what GD is and what it can do if we don’t find a cure or, for type 3, a treatment.

Thanks to all of you who have joined, and please keep spreading the word!