The Hazy Unknown

Yesterday, the Ear Nose Throat specialist confirmed that Emma's eardrums were still completely flat (unable to vibrate with sound because of the fluid filling her inner ears), and it's been three weeks since the last test. He said he was really surprised that she could hear as well as she did on the hearing test, and that if an adult woke up with their ears feeling like Emma's they'd be calling his office and begging him to help them. Emma puts up with so much so silently, I would have had no clue she had trouble hearing except that she's been putting her fingers in and out of her ears. Mr. ENT agreed that putting a second set of ear tubes into Emma's ears ASAP was a "no-brainer" especially with her speech issues.

This morning the neurologist was able to obtain a copy of Emma's brain MRI, and I realized that the nurse who told me the results over the phone two months ago misinterpreted the results. The nurse had said they'd seen "delayed myelination" which is common in developmentally delayed children, but the MRI report read, "moderate loss of white matter volume," which, according to the neurologist, is completely different than delayed myelination. I couldn't press for lots of details, but she said Emma's loss of white matter volume along with the abnormally slow EEG basically means that Emma has mild "cerebral dysfunction." When I pressed her as to what that meant she said, "brain damage,"--not exactly the two words any parent wants to hear, maybe we should've stuck with "cerebral dysfunction."


Basically, the two big questions we are seeking to answer now are, "Did the brain damage occur in the past as a one time event or is it a degenerative disorder that is worsening?" and, "What caused or is causing the brain damage?" It is possible that the brain formed incorrectly due to a genetic defect. It is possible that her brain suffered damage from mild oxygen deprivation in the womb or during labor. Or, it is possible that there is a genetic defect causing a metabolic disorder (the way the body breaks down and uses food) which may cause a deficit or build up of certain chemicals that interfere with the way the brain functions. One group of genetic mutations causing metabolic disorders that lead to the progressive loss of white matter are called leukodystrophies, something the neurologist mentioned they would check for. Here is an excerpt from the National Institutes of Health website on leukodystrophies:

“The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with

• Movement
• Speaking
• Vision
• Hearing
• Mental and physical development

Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time. There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies.”

More blood was drawn today to check for signs of a metabolic disorder, and we will repeat the brain MRI and EEG in September to see if the brain is stable or worsening. In the meantime Emma needs to see a speech pathologist to see if we can get her some more intensive speech therapy and a physical therapist to evaluate if she would benefit from physical therapy.


What all this means for little Emma is a frustrating shade of grey right now, something Crayola would probably name "hazy unknown." It's possible that her eyesight has now been corrected, her ear tubes will help her hear clearly again, and her brain will work hard to compensate, with therapy, for the damage it has been assaulted with. It's possible that her speech and motor skills will improve with hard work and time, that a future kidney transplant is the worst of what she's facing, and that her future is quite bright. It's also possible that she is facing a degenerative disorder that is causing her eyesight and brain function to deteriorate, and that there will be little we can do, but watch. But I've learned by now that venturing into the hazy unknown only causes me more injury in the end, it's best to sit where we are for now and wait for the fog to lift.


Right now Emma is sitting with her sisters, working her little heart out to trace the lines in her preschool workbook while she hums a happy, though unintelligible song. Right now is not a bad place to be, so that's where we'll stay.


I heard this song on the radio on the way to Emma's neurologist appointment, and quietly shed a couple tears while Toby gleefully announced every cow and horse he saw along the road. Maybe it will bless your heart too.