A Neuro Connection at Last

Mitchell’s ophthalmologist suggested to us once, then demanded us the next time to see a new neurologist. Dr. deGrauw (a neurometabolic specialist and department head) at Children’s Hospital was recommended and we finally met with him this morning. Boy, was it worth it! He came in and right away started rattling off next steps. First off, he referred to Mitchell’s muscle biopsy results and said they were abnormal and showed groupings of fibers that could indicate a metabolic issue. He was perplexed as to why further steps were not taken following this finding. Safe to say, he had me from this point on because this was not at all how we were previously told about the findings. I reference this message given to us by our last neuro: “No more tests suggested unless anything changes or deteriorates."

I told the doctor that I love my son as he is no matter what, but I appreciate an attitude of not leaving any stone unturned because Mitchell is a puzzle that makes no sense. I said that his vision deficiency and motor problems without a sign of a brain injury or something genetic just flat out doesn’t make sense, especially since there are no dismorphic features. (Essentially I told him what Chris and I remark to one another practically EVERY SINGLE DAY!!!)

He replied, “You’re right.”

It’s still sinking in. I am right. What a way to put the “care” in “health care”. Now Dr. deGrauw also said that doctors aren’t as smart as they need to be and that many syndromes and body chemistry are not yet understood. But, he seemed convinced it was biochemical, not genetic. So we are off to do urine and blood tests like a Creatine Metabolism Screen, a CO Q 10 Profile and Carnitine and Lactate/Pyruvate Analysis. We’re also to schedule a new MRI with a Spectroscopy to see how the brain has changed, which he said should have since Mitchell’s reflexes have changed to being “brisk”.

If this round of tests show any indication of a metabolic problem, Mitchell will need to have a spinal tap – it’s the way they can truly assess brain fluid.

Furthermore, the doctor was surprised that Mitchell doesn’t have seizures. I always say how grateful we are that he hasn’t had any and EEGs done have been normal. Dr. deGrauw seemed to have a “glass half-full” perspective on seizures because he said it might be easier to pinpoint Mitchell’s issue if he did have them. “Most children with cerebral vision issues have seizures.”

In the past Chris and I have together and separately left neurology appointments in a tailspin, depressed for weeks. This time I’m so excited I’ll have to really work hard at tempering my enthusiasm that we might just find something out, possibly crack little Mitchell’s code and improve his outlook. Oh, please pray for that!!! Pray that we’ll find out Mitchell has a biochemical issue that can be treated. Should that not happen – even though I truly believe that it can – how nice would it be to have a general umbrella diagnosis so we can better understand how Mitchell’s body works?!