Gideon had an appointment yesterday morning at Children’s Hospital in Omaha, Nebraska. It was an appointment that we have been anticipating for quite sometime. So why drive 11 hours to see yet another doctor? I’m glad you asked.

The appointment was with Dr. Rizzo who is a specialist for inherited metabolic diseases. Basically he’s one of the most knowledgable people in the United States regarding my son’s genetic disorder. But we didn’t visit him solely so he could evaluate Gideon and discuss his prognosis. There was another purpose for our visit.

There’s a study that will take place in a few weeks and Gideon’s genetic mutation qualifies him to be a part of it. Betaine is a drug (predominately an amino acid) that is used in another rare disease called homocystinuria. (Don’t ask me about that one…I’m doing good just to keep up with Peroxisomal Biogenesis Disorders, or PBDs.) When tested in the lab, Betaine has been shown to help the functionality of the cells’ peroxisomes. Hence the reason they want to try it on kids with PBDs. Am I speaking Greek?.. Let me back up and give you the cliff notes version about Gideon’s disorder..

Every cell in the body has these little things called peroxisomes. Peroxisomes oxidize long chain fatty acids so they don’t build up. Children born with PBDs have peroxisomes that don’t function like they should. And some kids have peroxisomes that perform more poorly than others (thus the reason for the mild, moderate, and severe cases). Eventually the peroxisomes can’t keep up, which means every cell (thus every major system of the body) begins to shut down slowly until death.

Hopefully that makes a little more sense. So back to the study…

Betaine helps the peroxisomes function better, but it doesn’t fix them. Meaning this is not a possible cure. Also, the doctor even said what happens in a petri dish doesn’t always translate to the human body. So basically science is the real benefactor from all this.

So what happens from here?

While in Omaha, they took blood, urine and stool samples. (By the way, Gideon didn’t even realize they were taking his blood thanks to Daddy blowing raspberries on Gideon’s cheek!) The Betaine is to be given for six months. Halfway through (3 months) and at the end of the study (6 month), samples of blood, urine, and stool will be taken. They will be checking the levels of long chain fatty acids in the blood. If the peroxisomes are functioning better, then the long chain fatty acids will have decreased as a result of the Betaine. Ultimately that would be the best case scenario from this study.

I hope that answers any questions about why we went to Omaha. We are so thankful we went and while Dr. Rizzo was and is amazing, I think we learned more about Gideon’s situation from an 11-year-old PBD boy named Sam…

Stayed tuned to hear more about our visit with Sam and his family!!