The HIlife can be a rollercoaster

Update on our little superhero:
We’ve recently had to increase his diazoxide dose to the highest amount since diagnosis, 12.3mg/kg. For almost two weeks he has become more unstable than he’s been since he was discharged in September. Oddly, only in the mornings/early afternoons. Some days in the 40s, but mostly low 50s/60s. 60s aren’t really too bad and not such a concern. But 40s and low 50s are a sign that something has clearly changed, especially when it happens within 45 minutes of eating. We don’t know why the sudden change. Once he reaches 15mg/kg of medication, we will have no choice but to seek other forms of treatment which include; injectable medication, feeding tube, or after we exhaust all other options, a near total pancreatectomy. Hopefully it doesn’t get that far, that would be the last thing that we’d want, but if he continues his pattern, we may have no choice. Before any of that, Dr. Paul wants him admitted back to Texas Children’s for closer observation, labs, and controlled diet, testing various meal types. If things don’t improve over the weekend, I suspect he’ll be readmitted next week. Despite all that, this kid is a trooper. You’d never know by looking at him that he’s so sick. Which is scary for those watching him, but I’m grateful that at such a young age, he enjoys life so much. ❤

On Wednesday, we had our genetics appointment with Dr. Craigen. We have one more test to run called Global MAPS. This test will look for biochemical abnormalities in his plasma. If that is inconclusive, our final step in the genetic discovery will be applying to be in the Undiagnosed Disease Network (UDN). There is no guarantee that we’ll be accepted but we have a passionate endocrinologist with a strong genetics background championing Jackson’s case to the board. Dr. Nadia Merchant will present his case and will work to forward not only his case, but all of those with undiagnosed genetics suffering from Hyperinsulinism. I think she wants this as much as we do. One bonus is that Baylor College of Medicine is one of two sequencing cores, meaning there are no travel expenses for us to participate in the program. Please pray that Jackson’s case gets approved. It may not change his prognosis but it could lead to great advancements in the Hyperinsulinism world. We really want this.

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s