Archives for January 2009

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.

The family nourishment area is equipped with a microwave and refrigerator–feel free to pack meals or snacks for your visit. Coffee and ice are provided.

Food may be purchased at Bertner Café, McDonald’s and the Texas Children’s Hospital food court that includes Chick-Fil-A, Villa Pizza and Subway.

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!

It is official. 

Hannah’s “case” is being taken over by a new genetics doctor.  She is a world reknown expert on lysosomal storage diseases, and the director of genetics at that hospital.  The youngest patient she had ever seen with Gaucher’s was 6 years old, so she is very interested in working with us because of how young Hannah presented with Gaucher’s (at birth).  From what the local Genzyme rep told me yesterday (who gave me a heads up that this might happen), she definitely knows her stuff.

We are still keeping our appointment with Dr. S., the Gaucher’s expert, up in Dallas.  However, Dr. E (the new doctor) will be taking over as Hannah’s primary doctor for Hannah’s condition.   After all, Dr. S. is a Gaucher’s specialist whereas Dr. E is more generalized in all the lysosomal storage diseases (including Gaucher’s and Niemann Pick Disease).

It really is a great feeling to know that we are getting two of the best doctors in the country for her now.  Since she is a novelty in this Gaucher’s Disease world, she is definitely getting a lot more attention than I would have expected.  Like I keep saying…maybe she holds the answer for a cure or new treatment!  (Hey, a mom can dream!)

I just got back from Little Girl A’s ear doctor appointment.  She had a bloody granuloma (mass of puss) in her left ear last month that had to be cleaned out.  Today was just a checkup.  Both ear tubes are clogged with wax, so for the next two weeks, we are to put hydrogen peroxide in her ears twice a day and see him back in a month.

While I was there, I asked him about this “sedated hearing test” that Hannah has to go through next month since the genetics doctor didn’t even give me any details other than having Audiology call to set up an appointment (bitter?  No, not me.)

It is called an Auditory Brainstem Response Test (or ABR).  The picture on the left is NOT Hannah, just an image of what the test setup looks like.

Details from the test are below.  Basically, he said that they are using this test to create a baseline of Hannah’s nerve conductions to her ears to be able to follow her hearing patterns and look for hearing loss to compare against future ABRs to see if there is degredation in her hearing (type 3).  I’m so glad SOMEONE was willing to explain it to me, even if it wasn’t one of Hannah’s doctors!

 Auditory Brain Stem Response Testing for Infants and Children

What is an ABR test? 

Your infant or child has been referred for an auditory brain stem response, or ABR, hearing test by their physician or by an audiologist who has performed hearing screening in the nursery. Auditory brain stem response testing is a painless and harmless test involving the measurement of electric responses recorded from the hearing nerves and brain by means of small, disk-like electrodes taped behind each ear and on the forehead.

How is the test performed?

Small foam-tipped earphones will be positioned in your child’s ears for delivery of sounds. It is preferable and more reliable to perform this test while your child is asleep. For that purpose, some children need to be sedated, usually with oral medication that will be administered by a registered nurse. If sedation is required, your appointment will also include a medical evaluation prior to the auditory brain stem response hearing test. Whether your child will or will not be sedated for the purpose of this test, you can help us by not allowing your child to sleep during the 2 to 4 hour period preceding the test. This test is performed in a semi-dark, soundproof room. Your child may be held in your arms or will be laying on a cot during testing. The test will be administered by a certified clinical audiologist. After preparing your child with the recording electrodes and earphones, the audiologist will conduct the test using a computer that is outside the room. The audiologist will record and monitor responses first on the screen of the computer, and later will print out the tracings. These tracing can accurately tell us your child’s hearing sensitivity. If the results of the test suggest some degree of hearing loss, you may be referred for further testing.

I just got off the phone with our local Genzyme rep, really great guy.  He is a clinician who works with Genzyme patients and the hospitals, sort of our liaison.

He wanted to give me a heads up because he thinks Hannah may be being switched from Dr. G. in genetics to Dr. E., since Dr. E. is a world reknown expert in lysosomal storage diseases (in which Gaucher’s is one).  He also wanted me to call Dr. E’s clinic assistant because they have some questions before the first infusion.   He can’t say for sure, but that is what seems to be happening.

I’m not going to complain…but I would love to know what happened behind the scenes to make this change!