We survived one full year, all of us. I haven’t posted about our journey the way I would have liked to, but I feel ready to share some about Jack’s first year of life.
One year ago today, I was getting ready to have baby Jack. I assumed the delivery would go smoothly and was already seeing past that part and on to my life as a mother of two. I was so excited to nurse Jack and spend lots of time snuggling with both of my babies before returning to work. I always assumed I would go back to work. I loved my job at the humane society and in many ways my entire adult identity was been based around the humane society. I already saw our lives with me back at work. I was completely comfortable and confident in my life.
That life seems so far away that it is hard to believe it was actually mine.
My life today consists of therapies, special diets and medicine, g-tubes, neurology appointments, genetics appointments, lots of blood draws, ER visits, service dogs, hospitals…you get the idea. I wouldn’t change it for the world and I know how lucky I am because Jack is doing remarkably well considering everything he has been through. But it is overwhleming and all-consuming and sometimes I just have to cry; cry for what was lost, cry for the trauma we all suffered, and cry with overwhelming gratitude that Jack is here.
My first blog post describes our time in the PICU when Jack was a newborn so I will skip that part. After that initial hospitalization, we were told that had an HIE (Hypoxic Ischemic Encephalopathy). The neurologist who delivered this news was noticeably upset and told us that Jack would likely have CP. We were discharged and we immediately started early intervention to try and compensate for what had been damaged in Jack’s brain. We swallowed this diagnosis and faced it head on. But, this was misdiagnosis we soon found out. After three hospitalizations for breakthrough seizures, Jack was admitted in status epilepticus; he had been in a “seizure state” for over an hour. We were admitted to PICU and Jack had a terrible postictal phase, which is the time after a seizure when the person is recovering so to speak. Well Jack was not recovering very well and he was having horrible muscle contractions and couldn’t or wouldn’t make any sort of eye contact. My heart was beating so fast and I was nauseous. I swear if you could throw up your heart then I would have done it in that moment.
Once Jack was stable and moved to the neuro floor, he started having a pretty rare form of seizure known as a gelastic seizure. Let me just say that Jack was only 10 weeks old so he was JUST starting to smile. He did not laugh. Interesting fact: gelastic seizures are laughing seizures and not the fun kind of laughing. It was horrible. Jack could not control himself. He was laughing hysterically and his body was jerking around. This prompted the need for Jack to have a MRS, which is just a fancy MRI and I hate it and I am not getting into anything about this stupid test. One more interesting fact, gelastic seizures are most commonly associated with a certain type of brain tumor. So I am thinking, “brain tumor, okay not so bad and at least it would be an answer and something we could try to fix”. That’s the world I was living in; the world where a brain tumor is a decent option.
I will never forget setting a meeting time to discuss Jack’s results. I was almost excited because I thought maybe we would have an answer. There were three doctors in the room, along with my mom, my mother-in-law, myself, and my husband. They brought in a big computer screen to show us the results, but were having technical difficulties. I was searching the face of my favorite neurologist, but she was looking at the floor. Everyone seemed nervous, maybe even sad. FUCK! Just tell me.
We were told that Jack had Mitochondrial Disease and in no uncertain terms that he would not live very long. My husband asked, “are you sure?” and the doctor just looked down and said, “I’m sorry”. We lived for two and a half months believing that our little baby was going to die…soon. I now lived in a world where babies die. I lost my innocence in ways that many people won’t understand and I had to adapt quickly to learn how to survive in this world. I did the most logical thing I could think of and started asking BIG questions and talking about what I wanted for my son. They sent in Palliative Care and my husband and I discussed what we wanted for our son as he died. Can you imagine?
There is a lot more to this story and our journey, but I’m exhausted and I imagine you are as well. If you know Jack, then you know that he does not have Mitochondrial Disease. Genetic testing revealed that Jack has a rare form of genetic and metabolic epilepsy known as Pyridoxine Dependent Epilepsy. A correct diagnosis can do wonders. I want to share something special in honor of Jack’s first birthday. Welcome to Holland sums up our first year with Jack and I am so glad we landed in Holland! ❤
Happy First Birthday, Buddy!
Metabolic Mama 