I think the things that we remember most about our lives are the moments that change it, for better or for worse. Graduations, marriages, births, deaths. Some good, some bad, some that fall in the gray areas in between.
For me, one of those moments was on Sept. 7, 2011, the day Grace Louise Herschelman entered my beautiful wife Mary and I's life kicking and screaming. Granted, if you were being yanked out of your slumber by a pair of guys in masks wielding surgical equipment you'd probably yell too.
Almost every moment since then has been memorable in one way or another. On the outside, Mary and I may have looked like we had this parenting thing down, although the reality of the situation was far from that.
We relied heavily on our parents for advice, support and free babysitting, all of which they gave willingly. We relied on each other when we were at our wits end and didn't know which way was up and which way to turn. And we relied on God. Asking him if we were doing ok as parents and praying for Grace in both the present and future.
Things would get a little more complicated not long after Grace's first birthday. Our moms, independently of one another, noticed that one of Grace's eyes was wandering a bit, so we spoke to our doctor about it and got set up with an pediatric ophthalmologist.
Around that same time, we started to notice that Grace wasn't quite hitting all of her milestones, like walking, number of words spoken and some other skills that we never really thought about.
That set us off on the journey through the state's Early Intervention program, starting with occupational therapy, then adding physical, speech and developmental therapy at different times along the way.
In general it was a taxing, but positive experience and at different times Grace seemed to be making strides. During this whole time, we were still confident that our little girl would walk, talk, run, take over the world and anything else she wanted to do someday.
In addition to the therapies, we also started seeing specialists at St. Louis Children's Hospital - first in orthopedics to get Grace fitted for some braces that her PTs recommended, then in neurology and genetics to try to find out what was causing the delays.
A year ago, a little bit of the wind was taken out of our sails as an MRI showed that Grace's cerebellum was a little bit smaller than that of children her age. The neurologist told us that was what was causing the issues with balance and walking, but it was really more of a symptom than a disease.
In July of this year, we underwent something called "whole exome sequencing" which looks at all 20,000 genes, even though they only know what about 6,000 do. This test would either tell us, what was wrong and how we could fix it, what was wrong and that there was no known fix, or that they still had no idea what was wrong. And it would take almost six agonizing months to come back with the results.
We hardly waited with baited breath. I fully expected that the answer would be inconclusive and that we would still be stuck in neutral on what was causing the delays. In the meantime, Grace had aged out of Early Intervention, but still did physical therapy in Hillsboro at RehabEdge and in Springfield at Kids at Koke Mill, plus speech therapy at Hillsboro Area Hospital.
Everything had pretty much been normal, with a string of doctors appointments and therapy sessions. Grace's progression seemed to slow slightly, but we chalked that up a delay in getting her new leg braces after she outgrew the last pair.
Then on Thursday, Nov. 13, the genetic testing came back with an answer.
As Mary and I sat in the back office at work, we listened to the solemn voice of our genetic counselor tell us that they believed that they had found the problem gene.
It seems that we had each passed on a recessive mutated gene to Grace and that the gene was responsible for depositing iron on Grace's brain. She said that the genetic disorder, which is lumped in a group called INAD (infantile neuraxonal dystrophy) was responsible for such things as slowing of growth and development, slower language development and eye issues, among others. The disease is neurodegenerative and loss of muscle strength and movement continues over time.
And then the nuclear bomb.
"Most children that have this condition don't make it to their second decade."
Just like that, the world seemed to fall apart. How could this bright, smiling, happy little girl all of the sudden receive the equivalent of a death sentence before she even spent her first day in kindergarten?
We learned more about the condition the following day when we met with our genetic counselor and neurologist at Children's. I believe that doctors are taught to prepare people for the worst case scenario, and while they did that, they did a good job of treating us like human beings who just had the rug pulled out from under them in one of the worst possible ways.
The last month or so have been pretty much a blur. We've spent a lot of time with family and friends, telling a few people at a time.
We've prayed a lot as well, mostly for miracles, no matter how slim the chance. They say that having the condition is a one in a million chance, but they tell us that there are only 10 documented cases of what Grace has in the US, so it's really more like one in 30 million, give or take.
Our hesitation to tell people has been in part with our own struggles to grasp the news and in part the fact that this isn't going to be a short term thing. Pneumonia is now our worst enemy, not the disorder, which will weaken the muscles and make it harder to make sure everything goes down the right pipe.
Those that we have told have been extremely supportive. For some reason, people just gravitate to Grace. There are more people in our lives that love that little girl than I can possibly fathom. And we need every one of them.
We are not relying on a miracle (we continue to go to therapy and work to keep Grace as strong as possible every day), but we continue to pray for one every day. But if that never comes, we plan to never take another day with Grace for granted. It's easy to tell yourself that each day could be your last, but I never actually felt the importance of every second until this news.
Whether I have eight years, eight days or eight decades left with Grace, I plan to make the most of it. Every second I spend with her is life changing. And I'll never forget that.
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For more information on INAD and similar disorders, visit www.nbiadisorders.org or http://nbiacure.org/learn/nbia-disorders/plan/inad/
KRH
