Diagnosis Day

Shortly after diagnosis

Last night a few people sent me messages and the Krabbe community was buzzing on social media about a child being diagnosed with Krabbe on the show Chicago Med.  I have never personally watched the show, but I was curious how it would be portrayed so I checked the timing and recorded the show. After the kids were in bed, I asked Josiah if he would watch it with me. I had mixed feelings myself about watching it and I could tell he did as well.  But we both sat down and watched it together just to see how it was portrayed.

Overall the portrayal of the disease and treatment options was correct.  We are glad that the awareness of the disease was featured on a popular national show. It was an episode that pulled at the heartstrings...it is our reality in a lot of ways. There were some unrealistic things...timing to get the test results back for Krabbe in the show and being diagnosed so quickly is rare...it takes weeks. The child was a little older than the more common versions of the disease but it isn't unheard of and can happen with late onset. Even having a doctor who knows to test for Krabbe is so rare... That would have been amazing in the real world...so many kids go misdiagnosed for so long (but again it is only a 60 minute show).  The hardest part for the two of us was the scene where the doctor had to tell the parents that their child was terminally ill and there was no treatment unless diagnosed when there were no symptoms present. It brought back diagnosis day....we both remember it vividly.

Max with Josiah - starting to struggle holding his
 head and couldn't sit on his own anymore.

We all went through a month of hospital visits, tests and doctor's appointments to try and figure out what was wrong. December 1st, 2014, we were in the lobby of the neurologist's office for an appointment to talk about additional procedures we could do to try to figure out his diagnosis.  We saw so many children and families with visible disabilities...oxygen machines...machines and monitors I'd never seen before.  Here we had Max in a baby carrier...he was fussy but relatively normal looking on the outside.  He was starting to lose the ability to hold his head up strongly and needed to lean on us.  He could sit up on his own but leaned very far forward and recently was falling over all together. We both looked at each other without words but both asking each other with a simple look...what is wrong with our child...is this our future....will this be Max?  Little did we know he was struggling on the inside. We finally got called back into the room and both were waiting anxiously for the neurologist to enter the room. We were both telling Max how proud we were of him and how all of this was a speed bump and he'd prove the doctor's wrong and get healthy soon so we could get back to our normal routines.  Then it happened.....in walked the main neurologist and her assistant.  In walked Max's genetics doctor...we had been waiting for results from his bloodwork taken 2-3 weeks prior....but why was he here with the other doctors? They work at the same hospital...but they aren't in the same office...and it wasn't planned that he be included in this appointment...

"We got the results of the bloodwork," the genetics doctor told us.  "It is confirmed to be a leukodystrophy which is what we were testing for."  He had told me at the initial appointment not to google leukodystrophies...just wait until we determined if we were heading down that road...but I needed to know what we were looking at...and what we were facing.  "Max has a leukodystrophy called Krabbe disease."....my heart sank....I had read about so many different leukodystrophies but this one stood out to me as the one I was hoping he didn't have.

"Is that the one the football player's son had...Jim Kelly's son?" I asked.  I had researched a bit about it online.

Almost instantly I received a head nod..."Yes, " he said. I knew that it meant no cure. I knew that it meant short life.  Everyone told me the odds were in our favor and the blood work was precautionary. "There unfortunately is no treatment or cure for the disease."  Tears were welling up in Josiah's eyes - I rarely see him cry.  I on the other hand was in such shock to the point that there weren't any tears that I could release..fight or flight mode...just trying to get information and stay focused enough that I could get the info to help Max.

"Was there anything I did wrong in my pregnancy with him?" I asked.

"No it is completely genetic and nothing you could have done.  You both have the gene that creates Krabbe.  You both have to give that gene to your son.  There is a 1 in 4 chance for each of your children...a chance that neither of you pass the gene, a chance that one of you passes the gene and the other doesn't and vice versa and a chance where you both pass the gene like in Max's case, " he said.

"But it has never run in our families.  We've had no prior knowledge of this," I said.

"You both have to carry the gene for it to even be possible which is very rare," he told us.

We asked if there were treatments, things we can do to make him comfortable.  He told us he'd research it because he didn't get many Krabbe patients and that we should schedule for a follow-up neurology appointment in 2 months...that was it...no other direction.

Max sitting with his friend Abby 1 1/2 months
before diagnosis (end of Oct)

"Do you have any questions?" he asked.  "We are really sorry to have to break this news to you."

We shook our heads no and thanked the doctors for their time.

We both left numb.  We walked through the waiting room and everyone was going about their business...making appointments, answering questions, filling out paperwork, waiting for their turn...yet to us...the world stopped . Our son had just been labelled as terminally ill. We couldn't wrap our heads around it. There is nothing we can do. Where do we go from here? How can the world continue moving?  How can we go on with our daily lives?

We got into the elevator with another person and I started getting tears in my eyes.  We had the long walk back through the hospital to our car.  Somehow we made it without falling over.

We didn't say much - but we both were devastated, shocked and scared.  On the car ride on the way home we vowed once again to stick together and support each other (it was the only way we could get through this) and do everything we can for Max. We called our parents and told them that we needed to meet with them immediately in person. And we gave them the news.  There was a lot of emotion over the course of the next few weeks.

I started doing searches on the internet for any glimmer of hope.  We reached out to Hunter's Hope (The Kelly's Foundation) and were given some direction and support.  They introduced us to a group of families on Facebook who ask questions, vent and support one another. I value this group so much.  We are family by genes.  One of the first people I connected with was Hannah's mom (PA). She suggested us getting to PA immediately to see the Krabbe specialist and find some guidance and help.  Finally...support and direction.

Opening gifts for his first Christmas (shortly after diagnosis)

Shortly after - we consciously made the decision that we needed to stop grieving and rather enjoy Max while he is here on Earth with us. There will be plenty of time to grieve in the future but we wanted to provide him with experiences and moments that he may not get to experience. We've accomplished so much since his diagnosis - more than I've done in my lifetime.  Some of the opportunities presented and the people that we have connected with have truly been amazing and such blessings to us.

We continue to enjoy our son (and our daughter) every day.  Don't get me wrong - some days I don't even want to get out of bed because I go back to diagnosis day. But he's here...he's still physically here AND he is amazing.  I'm going to cherish him for as long as I can.

Every day with him is a gift and I don't want to waste it.