I sent an email to Dr. W., Hannah’s guardian angel and a specialist on Gaucher’s (who referred us to Dr. S. next month). Here was his reply:
THere are some subtle abnormalities in hearing related to auditory nerve dysfunction that may be found in type 3 patients and that,to my knowledge, are not found in type 1 patients. The auditory nerve is one of the cranial nerves and can become abnormal as an early finding in type 3 much in the same way that the cranial nerves that affect eye movement can be abnormal. The technical name of the test that is usually done is “auditory evoked potentials.” This would not usually be done as part of a standard hearing exam. We are encouraging performance of this test for possible type 3 patients who are being enrolled in the Type 3 Sub-Registry study. I dertainly understand that the sedation is a concern but I would encourage you to allow them to do the test.
I am so lucky to have “met” this man! I know I’ve said this before, but he has been Hannah’s guardian angel…he answers all my questions very quickly (and I’ve had a lot), gives me things to think about, and also got me a quick referral to THEE top Gaucher’s type 3 specialist in the country.
It is also nice having an educated, yet unbiased, second opinion. He gives you the reason for the hearing test and his opinion of doing it. He truly is a guardian angel.
I’m possitive hannah will pass the hearing test,the way she interacts with you when you were playing with her yesterday shows. lets pray everything went well. I added your links to my blog hope thats fine.