Our Sweet Zackary

Sunday, December 11, 2011 3:04 AM, CST

written by Nicole Peterson

This has been a very challenging couple of months for our family, and has recently been full of more ups and downs than ever before, which has been very difficult for us. Entirely too much has happened to be able to explain it all, but I will try to share what I can.

The new medication we started Zackary on seemed to make him sleep nonstop. We weaned him off of another medication, and that seemed to help some, but he was still sleeping much more than normal. He also still sounded raspy or congested at times, so we kept checking in with his pediatrician, as there seemed to be no getting rid of it. She decided we should try a nebulizer to help open the airways, which could have been irritated from being intubated at Mayo for his MRI. That has helped him a lot, and its only used as needed now.  
 
We had another EEG on December 1 to see if the new medication was helping, and I am very happy to say that out of the many EEG’s he’s had, this was the first one where there was no seizure activity at all. However, that was pretty much the last piece of positive news we received that day. 

When we got to our neurology clinic appointment, we learned that the results had come back from one of the genetic tests that Mayo had sent off. Zackary’s epilepsy is a result of a STXBP1 mutation, a rare genetic disorder. From what I have recently learned, knowledge of this gene being associated with infantile epilepsy is a pretty recent discovery, but that also means there is no cure or treatment yet. 

Because there is not much else the doctors can do for our little man they have referred us to the Carousel program, which is a pediatric hospice program. In addition to, or because of, all the seizures Zackary has had, we learned he is considered immunocompromised. That means that he is at a higher risk of getting things like pneumonias and other infections, and that they can be more difficult to recover from. He will get visits from his Carousel nurse a couple times a week to check on him and do any lab work he needs done. This will be very helpful because we can try to stay out of the doctor’s office and hospital and keep Zackary away from the germs that come with those places. Our goal is to make sure Zackary stays as healthy as possible and that he has the best quality of life he can have, for however long that may be. We are continuing his therapies and his medications (though we are weaning another seizure med), and we are not giving up hope.

Even though the doctors have been able to give us some more information, they have also proven to us that no one is quite certain exactly what is going on with Zackary, or what type of prognosis to give him. The neurologist from the Mayo clinic still thinks that Zackary has Infantile Spasms, but thinks that the new medication must have worked at getting rid of the hypsarrhythmia, since we were told it is no longer showing on the EEG. Our home neurologist thinks that his EEG looks very similar to his older ones and that he has Ohtahara Syndrome, which is one of the most devastating types of infantile epilepsy. They also have very different opinions about what to expect, which has made things both easier and more difficult. Nick and I are also supposed to work with Genetics to help us determine if this was a random occurrence or if it could be hereditary. While this has all been much more difficult than anything we have encountered so far, we are trying to stay optimistic, but also trying to prepare ourselves for the worst.

Our hearts are breaking after hearing the news, but we are fortunate that for right now there are some positives we can celebrate. Again, Zack made it through an EEG without a seizure for the first time ever. We are almost off of another med already, with no seizure increase. He is down to around 2-3 clusters a day, which is a HUGE improvement over the 20-25+ he was having last month! He is still sleepy, but he has had some good days lately where he’s been awake for much longer periods of time, so we are hoping that continues as he gets that old med out of his system. Right now, he is as healthy as he can be, all things considered, and for that we are grateful. Every day with him is a blessing, and that is what we have to focus on for now. 

Thank you for everyone’s thoughts and prayers, they mean even more to us now than ever before.