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!

Finally all the pieces have come together for a treatment date. Thank goodness email is free because otherwise the amount of communication between all the parties involved would have cost a pretty penny!

Monday, February 9, 10 AM, for her first IV infusion for Cerezyme enzyme replacement therapy. We are doing it at the hospital’s infusion center so she can be closely monitored for side effects, etc. We are to plan to be there 3 hours (that should be interesting).

I’m relieved to know we are making a step forward. I’m just nervous about her reaction to the treatment now…side effects, developing antibodies, just not working, etc. But I can’t worry about that now.

This is the first step to giving her a better quality of life.

Wow! I can’t believe my beautiful baby girl is six months old today. Boy, did time fly!

Her personality has definitely started to develop. She loves to smile, she is such a charmer, and she has the cutest laugh. I don’t know what it is with all my kids, but they have always loved other people as babies. I think they are all smile-junkies — they just give a big grin to a stranger, and the stranger feels no choice but to smile back because they are so cute, and then they smile even more!

This also means this blog is also six months old with over 100 posts and almost 250 comments from our friends and well-wishers. Thank you 🙂

I think when Hannah turns one, we need to throw a huge online party with all our faithful visitors and friends to celebrate! If the next six months pass as quickly as the last six months did, it will be here in no time!

I love you baby girl!!

I just wanted to share these two pictures of Hannah with Little Girl A and Big Boy E. They absolutely adore their little sister, and these are not just a one-time snapshot. They represent a daily interaction between the three of them.

As much as I’ve been avoiding showing Hannah’s big belly – her huge spleen and liver are so obvious – this picture was just too sweet to pass up. Hopefully in the next couple of years with the Cerezyme treatment, her spleen and liver will have gone down significantly!