It’s been nearly a year since my last update and mostly that’s a result of me pushing it off until I have something really definitive to share. In the ultra rare disease world I don’t think definitive is a reality. So, it’s time for an update.

Last spring/summer there were lots of seizures, but after adding a second medication we went a record 9.5 months without a tonic clonic seizure! He still had regular absence seizures, but the tonic clonic ones are the scary ones. Overall, I’m pretty happy with where we are at with his seizures. I don’t think it is realistic that he will ever be seizure free. 

Each kid with an IRF2BPL variant is unique, but Ezra really doesn’t seem to be following the typical disease progression. Most lose their gross motor skills first and then eating and speech, and then respiratory problems become a huge struggle. Around Ezra’s 4th birthday is when he started really struggling with eating and he looked drunk when walking. It got to the point he had lost weight and we couldn’t wait any longer on getting a g-tube. Afterwards his walking really improved. He is still walking although he tires very quickly and some days nothing works well at all. Given the amount of bruises on his legs, it is probably fair to say that he is falling more too. Over this last year he has spent more time in his medical stroller and lying down. His physical therapist has seen a downward trend in his quarterly assessments too. All this prompted his PT to suggest moving to an actual wheelchair. I was resistant at first because it felt like another loss, but ultimately we decided to move forward with that plan. He was fitted for it in March and we expect to get it in the summer. The ATP who fitted him told me this was definitely the right choice and that strollers weren’t meant to be used to the extent that we use ours. The nice thing about this wheelchair is that it is a tilt in space, so on Ezra’s bad days when he struggles with trunk control we can recline him and on good days he can be upright and keep his core muscles engaged.

His movement disorders have been a bigger struggle this year. The chorea cause his legs to constantly move. He is always kind of bouncing/wobbling when standing and when laying they also keep moving. These movements make it very hard for him to fall asleep. Typically it takes 2 hours to get him asleep each night. Dystonia causes muscles to become very tight and puts him in uncomfortable positions. We often see this in his neck (head tilted back) and his left arm pulling behind his back. Dystonia is painful. Try tensing your muscles and keeping them that way for just five minutes and you will probably feel uncomfortable. Since 2021 we have been using gabapentin to help with the chorea. We tried increasing it but didn’t see improvement. Our neurologist sent us to a physical medicine doctor in March and she has been a game changer in getting these movement disorders under better control. She put him on baclofen and we’ve seen improvement. We are still figuring out the perfect dose for him, but we are getting there. She is also planning to do Botox in his feet/legs once we have the baclofen dosage figured out. His gastrocnemiuses are tight and his toes are always pointed. He fights against his AFOs and the orthotist said he could tell that his heels weren’t going down because moisture is collecting in the heels of them. He got new AFOs at the end of March and he has already broke a strap twice from fighting against them so hard. 

Since October Ezra’s breathing has been rougher and he struggled with back to back upper respiratory infections, bronchitis, and pneumonia. Between October and April he was on 9 rounds of antibiotics. In February he had a sleep endoscopy, which is a camera that goes through all his airways and into his lungs. His lungs were filled with thick green mucus. The sleep medicine doctor cleaned them out and then the ENT removed his tonsils and adenoids. We were then referred to a pulmonologist who deals with more complex kids like Ezra. 

We just saw the pulmonologist in May. Ezra has a rather colorful pulmonary history and I don’t think I have ever met a more thorough pulmonologist. He went into great detail about the lab reports from the specimen they took from his lungs. He explained all the abnormalities in the pictures they took during the sleep endoscopy. There was a lot of information in that appointment and I’m just going to share some of the bigger points. Ezra’s reflux is probably a bigger problem than we realized. He suspects that Ezra is aspirating the reflux. He is also concerned that he is aspirating on what he consumes orally. While Ezra’s is fed through his g-tube, he still drinks by mouth and he eats some. His eating is for pleasure, things like shredded cheese and chips. The doctor gave me a talk on how he hates to take away food and drink from kids, but safety is most important. He is sending Ezra for a swallow study and I have the impression he expects Ezra to fail it. This will be absolutely devastating if Ezra can’t have anything by mouth anymore. Anyone who knows Ezra well knows that his chocolate milk and juice boxes are necessities. School even uses them to calm him down. In my mind, Ezra was supposed to lose his gross motor abilities before this point and that would make it easier to stop food and drink. Hopefully he passes or at least we can just thicken things rather than stopping everything. The doctor also ordered a chest X-ray to be done when Ezra is at his healthiest, so we can see his lungs at baseline. He put Ezra on a stronger daily inhaler and also increased our albuterol usage. He said that we are headed toward a shaky vest or cough assist machine, but insurance likes to see some steps before that. He also referred us to GI to look at the reflux. We will see GI in August and go back to the pulmonologist in September. 

Those are the big medical highlights and while there have been some changes, Ezra is doing well given the prognosis of his disease. He finishes first grade this week and he has stolen the hearts of more staff members this year. We have been so thankful for his school and the incredible people there.