“Research is creating new knowledge.”
Two weeks ago our youngest daughter, Abby, and I landed back in Indianapolis after spending close to a week in Houston. Abby was born with a Urea Cycle Disorder, more specifically, ASA. The mecca for that disorder is Texas Children’s Hospital. This last trip marked our second trip in 6 months and we have two more to go this year to wrap up the clinical trial she is currently participating in. These trips are stressful. Exhausting. But, thank the good Lord, our Abby LOVES adventures and these trips, even the not so fun stuff at the hospital she has to endure, are all part of the adventure to her. If you read my last blog post, you know that we do make the very most of these trips and have lots of fun when we can!
This clinical trial is targeted at the specific UCD Abby has, ASA and the goal is to see whether a nitric oxide (NO) supplement aids in memory and problem solving skills. This was all based on a case study done with one teenage patient with ASA eight years ago. You can read a short and sweet version of that case study here. If you really want to dig in you can read a way more in depth/lots of big words/medical jargon but super fascinating article, here.
What is ASA?
According to the U.S. National Library of Medicine, ASA short for Argininosuccinic aciduria is: An inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high.
It is controlled with a low protein diet, taking arginine as well as an ammonia scavenger and a special metabolic formula every day, multiple times a day.
What is Nitric Oxide?
Let me start this off by stating I STRUGGLED in Chemistry. I will not be getting very technical here, but I can say this…Nitric Oxide is referred to as the “Miracle Molecule” and won “Molecule of the Year” in 1992. It’s role in the body is far reaching. It has been used to help treat heart disease for many years and has been more recently used to help treat high blood pressure.
What do we do at the hospital?
We usually fly in on a Monday and don’t have to be at the hospital until Tuesday morning. We head up to the Clinical Research Center at Texas Children’s and there they check height, weight, blood pressure, do a physical exam and blood work, all to make sure she is “safe” to participate.
She is not a fan of the blood work, but she is such a champ when they take EIGHT vials of her blood for this study. EIGHT VIALS! Along with the safety labs they have TONS of other stuff they are looking at.
Abby is such a glass half full little girl. She dreads the blood work. DREADS IT. But, she knows that once that part is over, she gets breakfast! She is on a low protein diet, so she can’t eat all of the eggs, or all of the waffles, but she gets enough to make her happy. Doesn’t hurt that she can have all the whipped cream her little heart desires!
This study is a neurocognitive study, BUT, because we are already there, they added a couple different things to it to check for other issues that these ASA kids may have. One is a bone density portion, to see if kids who are on low protein diets, have lower bone density than normal. The other is a vascular portion. So, first up, we go do the EndoPat, basically a tool to measure cardiovascular health by evaluating the small and large arteries.
The hardest part about the EndoPat is Abby has to stay very, very still for about 20 minutes. Here’s what the set up looks like…
Next up, the DXA scan. This scan measures bone mineral density. Abby LOVES this one. She thinks laying on the table as it moves around is fun. Glass half full, all the time.
Last scan of our first day at the hospital is the pQCT. This is also a bone density test, looking specifically at the wrist. Abby was so relaxed during this one I thought she had fallen asleep!
Our first day is a long one. We get to the hospital around 8am and get to leave around 3pm or so depending on how quickly everything moves.
We get to the hospital around 8am again on day two but this day is not nearly as packed as the first.
First up is the neurocognitive assessment. It usually takes around an hour and a half and it is intense. Abby gets in all of her meds, special formula and breakfast before and then I send her off with the neuropsych evaluator and say a prayer she does okay.
Once she finishes that up, on trips one and three, we go back to the initial evaluation room from our first morning there for her to eat lunch and then take her NO supplement OR the placebo. This is a double blind study so we don’t and THEY don’t know which she was on for that first six months or what she will be on after this two month wash out period is over. She has to be monitored for two hours after they administer that supplement (or placebo) and then we are all done and free to go.
This study is a BIG commitment. It is four trips to Houston in a year’s time. So, why…why did we take the leap and make the commitment?? BECAUSE THIS IS OUR CHILD’S BRAIN!!! If we can do something to make school easier for Abby, to make LIFE easier for Abby, we have to do it. Life is hard enough, let alone when you have a disorder that impacts your processing skills. Abby is an amazing little girl. She WORKS SO HARD. She does her very best day in and day out, but this disorder makes school, math in particular, difficult. We owe it to her AND TO ALL THE ASA KIDDOS to do our part to contribute to progress. This is for Abby. This is for Harper. This is for every single one of the kids that struggle every day in some way, shape or form through no fault of their own, but as a result of this damn disorder that I HATE WITH EVERY FIBER OF MY BEING. It’s the very least we can do.
Current Study-Status OPEN
(meaning, they are still looking for participants!!)
Houston, we’ll see you in May!
As always, thanks for reading.