To give everyone a little background as to how all this started and to put my memories into words so I will never forget them: A month or so ago, we noticed Carson started to walk strange. By strange, I mean it looked like he had a blister on his foot, or his shoes didn't fit right. Being the true cowboy he is, we thought it was because of summer, and his Crocs or tennis shoes just didn't fit him like his boots. After 3 weeks of watching this not improving, we scheduled an appointment with his pediatrician on June 13, 2016. After blood work and an X-ray, we were referred to VCU for a neurology consult on June 15, 2016. It was believed that Carson had a tethered spinal cord, but the doctor didn’t want to miss anything and also requested to include the brain during his MRI that was done the next day. I vividly remember waking up the hospital Friday morning and coming to realize this indeed, was not a bad dream. A few minutes into Carson’s breakfast, one of his doctors walks in as Jarrod was in search of us something to eat. So here I am, alone with our little guy and this guy comes in to tell me there are lesions on Carson’s brain. About the time I start to panic, my husband comes back with food and I have to hear the words all over again. This resident proceeds to tell us they now believe Carson has ADEM, we will treat with steroids and our son will live a normal life afterwards, but the attending would be in later to confirm his reading of the MRI. A few hours later, we were told it was almost certain that Carson in fact had some type of Leukodystrophy due to the fact that the lesions were very symmetrical. Long story short, we came home on the 18th and immediately began working with a fantastic doctor at Duke that gave us his cell number right away and instructed us to have more blood work done to be sent to Jefferson Memorial Hospital in Pennsylvania. We were able to get the blood work done on Tuesday, the 21st, at his pediatrician who had to drive the sample across state lines to get to a FedEx location that hadn’t picked-up yet. (How awesome are the doctors we are working with!?) We were expecting the results to take close to a week and on the 23rd ( which also happened to be my 31st birthday ) met with a genetic team at VCU. My parents went with us so we could celebrate my birthday over lunch and do a little shopping after the appointment since we weren’t happy with the shoes Carson had been wearing for 1 week or so. My fabulous girlfriends had convinced me to go out to ease my mind and unwind a bit over diner and just as my sister-in-law pulls up to grab me, the phone rings. It is a phone call that will change the outcome for all of us for the rest of our lives and it goes a little like this. It was a number from Ohio, strange, but ok I’ll answer, but there was no response to my “hello” until just as I was about to hang up. As I say yes, I am going through my memory trying to place the voice that somewhat sounds familiar. I hear “it’s Dr. _____, how are you?” I step into our great room as I tell her I’m ok, as she continues with “We have the results from Jefferson Memorial”. My immediate reaction was “do I need to get my husband?”. After her long pause and another deep breath, I hear her pitiful “yes, you need to get Jarrod.” We place the call on speakerphone and we beings to tell us the results, and all I hear is that my son’s enzymes are low in the test for Krabbe and I fall into my husband sobbing. I can’t tell you much of the conversation afterwards, but I remember her saying how sorry she was and Jarrod asking her if this is his diagnoses without a doubt. Poor Dr. ____, pauses again and one more deep breath and says without a doubt and I tell Jarrod I don’t want to hear any more. I do know now that she had already contacted all doctors, both VCU & Duke so we didn’t have to repeat it and the appointment scheduling could begin. I remember walking out of the room to tell Jade that we weren’t going anywhere as tears are rolling down my face. My mom embraces me and Jade rushes to be with Jarrod. My dad hung his head and our two little boys are watching my every move. I felt as if I was going to be sick and can hear the boys and my dad in the back ground and remember I have to be strong for my babies. I walk out the bathroom to a huge hug from my dad and make my way outside as I listen to the rain and watch the thunder as I try to get my act together. As I watch God’s beautiful work, I almost feel a sense of strength. Somewhere in there, I remembered my oldest, who is on his way home with my other girlfriend who is taking me out for that birthday celebration. I call her to ask her not to bring his, say she forgot something at home or needed to stop by someone’s house real quick. I can’t have my 8 year old walk into this mess because he will remember these days for the rest of his life. They are already in the driveway and without any questions or hesitation, she says “ok”. We start making the necessary calls to our closest relatives and our house begins to fill with family, close friends, and lots of love. Friday started a whirlwind of emotions and scheduling with doctors. A few friends must have felt my broken heart and I had someone with us all day. Saturday, was much like Friday, our home was filled with well-wishers, gift & meal deliveries, prayers, and a whole lot of love. Sunday, we attended church for what we expect his last time for quite some time and then the fun began. A good friend of ours had invited us to let Carson and the boys come ride their horse, who we will call “Champ Man” (a whole other story). I watched as my cowboys took turns riding this horse and boy, did we see smiles that day. I, even with a broken foot (whole other story #2), managed to get some much needed therapy, I mean saddle time, on “Champ Man”. We could have stayed right there, in that spot, in that moment forever, but I had a hot date with my ladies from work. My girls drove down to see me and bring us dinner and my heart was happy from the day, I could have died a very happy woman. When you work with people who aren’t just co-workers, it makes work not seem like work. And let me just say, I do not work when I go to work. Sure, I push cases just as well as the next, but I thoroughly enjoy my job, and very few people that I know can say that. I have recently started describing us as a puzzle; when all pieces aren’t there it just doesn’t feel right. This my friends…brings us to day 4 of Krabbe…. Globoid Cell Leukodystrophy, commonly known as Krabbe (crab-ay) Disease, is a genetic disorder that affects the central and peripheral nervous systems. Those affected by Krabbe typically appear healthy until onset, or when an individual experiences symptoms, of the disease. Onset can vary from the first few weeks or months of life (Early Infantile Onset) into adulthood (Adult Onset). Those who suffer from Krabbe Disease have a deficiency of an important enzyme called Galactosylceramidase (GALC). Krabbe Disease is both a Leukodystrophy and Lysosomal Storage Disorder (LSD). Leukodystrophies are characterized as degenerative diseases of the white matter of the brain. LSDs occur when a part of the cell, called the lysosome, does not function properly. In a healthy individual, enzymes break down material in the lysosomes, however, if the body does not produce enough of a specific enzyme (ex: GALC), material builds up and becomes toxic.
*Learn more at huntershope.org*
