A lot to digest.

Hello friends and family. 

We have had a very busy week or so and it’s been a lot to process. Bear with me as I attempt to put all this into words.

Last week while on the swings at the playground Jonah had a very startling “episode” that appeared seizure like. Unusual eye movements, nodding off, or losing consciousness along with limp body and unresponsive staring, were some of what we witnessed. The next day I was back and forth with his pediatrician and his neurologist determining our next steps. We proceeded to speech therapy for the day, and we witnessed what could have been another smaller episode. At that time, it was advised I take him in. We drove to the children’s hospital and underwent monitoring and labs. Once released we were given a rescue seizure medication and instruction on how to administer it, and to call 911 once we give it to him. I hope I don’t ever have to do that. 

Since the episodes, we have not seen our usual happy Jonah and there has been more possible episodes. We deal with lots of dysregulation on a daily basis as a whole with him but this past week and a half has been extra hard. He is not himself and it’s been challenging. He has been so upset, not eating and not sleeping. 

Today we went back down to Atlanta to meet with his neurology team. I am still overwhelmed with the information and trying to take it all in. On top of this ultra-rare genetic disorder there are slight variants within this syndrome. For example, most cases are a result of a gene mutation from one or both parents and Jonah’s is what they call “De Novo” meaning it was completely spontaneous with no gene inheritance from me or Casey. So that made his case a bit more unusual but not unheard of. Well, today they explained that Emory has identified that his specific mutation is so rare there are only 2 other kids with it and they believe him to be the 3rd person known in the world to have this. Their question on their mind is “does the other 2 kids also have seizures, and what are the similarities?” 

This led to the neurologist suggesting we move from general peds neurology to a very specific specialty called rare-disease neurogenetics. CHOA has one doc that does this sort of thing, and she has never seen a case like Jonah’s (understandably). They have also offered us a referral to Boston’s Children’s Hospitals to see the geneticist that his disease is named after to see if the team there can possibly offer more insight as Boston Children’s is the only place that has seen the most amount of these kids and the ones doing the research study behind it. 

Jonah is already a patient in the clinical research study at Boston. They have coordinated with Emory to secure all his records and notes from his geneticist and care team. We hadn’t planned to go in person though. However, now we are going to have to look into that possibility and what we may need to do to get the best overview of Jonah and how best to help him. This syndrome is known to have seizure disorders in 1/3 of the less than 100 known cases and again they want to know what the case is for the 2 kids with his specific variant. 

This is a lot to digest and a lot to contemplate. Financially, even with a  referral, insurance will not cover out of state medical expenses, not to mention travel to get and stay there but we know we have to do what’s best for Jonah. So please be praying God leads us where we need to be and provides a way. He always does. 

At this point we are scheduled for an EEG. Depending on how he tolerates it and what we see on it we may need to do an admitted EEG where we stay in hospital for 24-48 hrs and keep him on the EEG during that time. The team knows getting him to sit for an EEG without sedation may be difficult and so we will try but we also have a back up plan. We are hoping to get lucky and do a routine EEG and ALSO catch a seizure on the monitor. If we don’t get both of those we move to the aforementioned plan B. 

From this point we will be coordinating with the rare disease neurogenetic specialist. He is free to go about his usual activities, and we are watching him very closely. Probably too closely. It’s hard to not just sit and stare at him all day waiting for something. We were told some tricks and ways to help determine if what we are seeing is a seizure or stimming behavior which is the hard part of this. These types of seizures are not what you see in the movies. It’s not him on the floor shaking and foaming at the mouth or stiffening up. It’s so subtle. They have more reasons than not to believe we ARE having seizures based on the episodes, likelihood from his genetic diagnosis and at least one incident observed by a healthcare professional. But I am holding out hope that we are not having seizures or anything dangerous for that matter. 

Seizures are also a cause of developmental regression in kids like him. That’s hard to think about. He has come so far and worked so hard for every skill he has, and we pray we don’t lose those skills under any circumstances. 

Of course, Casey and I are in a state of constant worry at this point. More than we already were. It’s been a lot. 

Please be praying for:

-          Answers.

-          Guidance on where we need to go to get the best care for him

-          No regressions

-          He will start eating and sleeping again

-          Return to his usual baseline norm and back to his happy self.

We love you all,

-The Mabes