Neurologist Update Pt. 1

It’s been a little over six months since I’ve updated my blog. I’ve sat down many times to only walk away from my computer because I can’t find the words or even begin to process my emotions. To quickly refresh – at the beginning of March, we received Jackson’s MRI results and they fast tracked us to our neurology and genetics appointments. I was excited to finally get things going and that is where it starts.

I told Donny that he didn’t need to come to the appointment because it was our initial neuro appointment and they typically just go over history, paperwork, medication, etc. I won’t ever make that mistake again. As we sat down with the doctor, a whole team of staff came in: child life specialists, therapists, nurses. They took Jackson in the hall to play with cars as I went over the MRI results and images with the doctor. He wrote down letters on a piece of paper and told me to go home and look into NBIA – neurodegeneration with brain iron accumulation. He told me that Donny needed to attend each appointment moving forward and that he would order a test kit to be sent to our home and for us to send off a saliva sample to the lab. Also, he said that we should start planning for Jackson’s life expectancy which is usually about 10-12 years after diagnosis.

Wait, what? I know the developmental pediatrician briefly mentioned iron, but she said it so passively…

Then, COVID.

Bam! Just like that, everything shut down all within a week. The following weeks were a blur but I do remember nonstop tears, fear, anxiety, panic attacks, prayer list requests, screaming, and anger. The worst emotional roller coaster I’ve ever been on.  Hindsight, COVID was a blessing in disguise for our family because my husband, who works constantly, is now home with us. Like most, fear lingered about the uncertainty of finances, jobs, etc.. but that was nothing compared to the fear of losing our son. 

I only spoke about it to my immediate family, closest friends, and my church family. They all came through with waves of support and it was so powerful. I’m a believer and I definitely believe in miracles.

The test kit came in and it sat on the counter for a few days…staring at me. I just couldn’t accept the fate the doctor had given us. But finally, we sampled Jackson’s saliva and got it sent off. After weeks and weeks of waiting, the test came back negative for iron. What a wave of relief! Donny and I locked ourselves in the bedroom and cried the happiest tears one could ever cry.  It truly was a miracle. The next appointment with our neurologist was the following week.

After hearing the results, even the doctor was surprised. We asked if we should still be concerned about his life expectancy and he said, “Yes.” Although it was not what we wanted to hear, we know that getting a diagnosis can be a process of elimination. We received one miracle, why couldn’t we pray for more? So for months we sent off multiple saliva tests, blood work, urine samples, got pricked and poked and had many scary hospital visits. I will share all of our tests and results soon but for now I’m going to cry. This whole experience continues to give me PTSD, but I thank God for miracles!