Tag Archives: Degenerative Disorder

Tornadoes in her Mind

The final results of last year’s Mayo Clinic tests, cumulatively over 500 degenerative possibilities, came back negative December 28th. There it sat in our mailbox like some generic Christmas card. Typed up, mass produced, a statement of facts all combined to carry the wishes and blessings we hoped for.

As wonderful as the news was, it left a gaping hole of what was next? For six months I had lived with the fear my child was dying, waiting for the why and the when, clinging to every moment and feeling guilty for the times when I didn’t. Now what?

It does seem to be the pattern. Every test, every doctor, every hope ending in a new beginning. A new quest. A new start down a different road that is yet to be found.

Our next path is to retrace an old one. We are headed back to the Mayo Clinic for yet another MRI and EEG in the doubtful hope that this EEG will be successful. It will be our third. The first was inconclusive but didn’t show signs of seizures. Four years later, Vanderbilt re-visited the EEG. They wanted an overnight EEG. After an hour and a half, Savannah woke mid-panic attack, swiping the leads from her head in one swoop of her tiny arm. She proceeded in full panic form to rattle the metal railing and toss the nightstand across the room. We were kindly escorted out at 1:00am. We were assured that enough data was gathered to rule out seizures.

Seizures were an early concern. Spontaneous loss of skills is commonly the result of brain trauma or seizures. But we haven’t found either.

A few months after the Christmas news sunk in, I met with Dr. S and spoke with Dr. T. Dr S was stunned by the negative test results. “That can’t be,” he responded. “I’ve seen this child for years. I’ve seen the regression.” I bounced Dr R’s idea of revisiting the EEG for forty-eight hours. I can’t imagine forty-eight hours of leads and wires when Vanderbilt couldn’t accomplish two hours of it. Dr. S made the point, “It’s like chasing tornadoes. You can see the devastation after a tornado but its hard to pin-point exactly where a tornado will hit beforehand, making it near impossible to catch.” We may not have seen or caught the tornado in her mind, but we can see the devastation. We have to at least attempt to catch the tornado and the longer the leads are on, the better the chance.

Dr T informed me that there are certain types of seizures that exhibit in violent and aggressive outbursts, and seizure hallucinations present differently than regular hallucinations and would not have been noticed at her time in the Vanderbilt Psych Unit. More options. More hope. More needles to grasp at in the hay.

But I have to know.

There was an ancient belief that to name something was to claim power over it. That’s what I need. I need to name this demon that strives to steal my daughter from me. I need to know the medicines, the therapies, the daily life modifications are what they need to be. I need to know what life will look like for her 20 years from now and how to make those decisions. I need to know there will be a 20 years from now.

So we are headed back to Mayo. Back to Minnesota and beautiful countryside and incredible food. We are headed back to the beginning.


Quest Across the States (4): Disappointing Dilations and Two Perfectly Short People

Sleep has been allusive at the Mayo Clinic. The kids have slept remarkable well, wrapped in dreams and fluffy blankets. I lay awake at night with thoughts I never wanted running rampant through my mind, bouncing off my skull, echoing through my bones.

So 4:30 comes early, and 6:00am shuttles seem even earlier. It’s hard to find coherence at a neuro-ophthalmologist at 7:00am. Panic settled in on Savannah when the chair began to tilt back. It was only a dilation. A dilation and panic. Luckily, the technician who came to help restrain her was in his twenty’s. She struggled and tossed her head, until she saw him. She took another look at him, looked at me and smiled her biggest “he’s cute” smile. There was still struggling when the drops came, but it was subdued by comparison. Cute guys are always a good idea.

The problem came after the drops were administered. In Savannah’s mind, she was done. She had done it. What she couldn’t comprehend was that it takes time for eyes to dilate. The melt down was massive. I knew it’d be worse once the dilation hit and her vision blurred. It’s wonderful to be wrong. As soon as her vision blurred, the giggles began, and there they stayed until it was time for the eye exam. You’d think it’d be easy. You’d think it’d be possible. You wouldn’t be thinking of Savannah. Two doctors, two grandparents, one mom and forty-five minutes later the doctors conceded that there was no possibility of looking in her eyes. The next course of action would be sedation and that requires the use of an OR. We would be called when it was scheduled.

So why the insistence to dilate? Monday they discovered that Savannah’s eyes cannot track up. Victims of NPC cannot track up. There are other neuro-degenerate disorders that can be seen in the eyes, but again, NPC is the highest probability.

Joseph and I left the once again giggling dilated Savannah in the hands of incredible grandparents and went to the endocrinologist as a Checker. A Checker is a patient that sits in the waiting room and hopes for a cancellation to fill. Luckily, we were called after twenty-five minutes. We saw two endocrinologists. They charted Joseph’s growth, reviewed his wrist x-ray and blood work (very quick turn around), checked for signs of early puberty and asked loads of questions. Pre-puberty, a boy should grow two inches annually. While Joseph is well-below his expected height, with the exception of one year, he has been growing two inches every year. Hormones tested normal. Wrist x-ray showed growth. Height is on par for reaching two inches by this December.

So what did it all mean? If Joseph stops reaching two inches annually or if he doesn’t reach five inches after puberty hits (boys in puberty grow five inches a year!), then it’s time to revisit an endocrinologist. His height must be kept under an ever watchful eye, but as for now there are no signs of growth retardation. Joseph is fearfully and wonderfully and shortly made.

I asked him when we left if he understood what the doctors had said. Although he knew we were discussing his height, I’d been very careful not to worry him. He has always been overly sensitive about his height. “No,” he said. “Not really.”

“The doctors said your height is good. You may be short, but its good. Your height is perfect. You are the height you are meant to be. Short and perfect. So don’t let anyone tell you otherwise.” And then we celebrated with a cinnamon roll. A toast to two perfectly short people.

That afternoon came the neurological ophthalmologists’ call. No one was available until July 24th. I thought I would cry at the impossibility. There was no feasible nor economical way to coordinate it. Finally, someone in the background came to the phone. She was with pediatric neuro-ophthalmology. There was an opening Friday afternoon. They would be attempting the same failed eye dilation, but were used to children with neurological delays. “And we have had patients bigger than your daughter. We can get it.” The choices were a definite successful dilation on July 24th or a traumatic hopeful success this Friday.

We go back Friday.


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