Clinic and a Health Update

Jacob had his quarterly clinic visit a couple weeks ago.

Before I give you the update, please remember that nothing I write here should be taken as medical advice. Every individual case is different, and you should always consult your doctor for diet and medication guidelines.

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Jacob at Clinic in April

At 15 months, Jacob weighs 27 pounds and stands 2 feet 7 inches high. Developmentally he is right on track. It is actually rather unbelievable that this big, healthy-looking child dancing around my living room at the moment is on a restricted protein diet.

My biggest concern, recently, has been the contents of Jacob’s formula. The first three ingredients? Corn syrup solids, sugar, and processed vegetable oils. Yes, I understand that, by definition, synthetic protein formula is a processed food, and that certain ideals about nutrition must be sacrificed to keep the ammonia monster at bay. However, I also have a responsibility to my son to fight for his best possible health.

So, Dr. S and I agreed to switch from a 50-50 food-formula mix to a 60-40 food-formula mix. At clinic every three months, we will reevaluate and hopefully continue to reduce the amount of formula in his diet. I am so grateful to have a doctor who responds graciously to my concerns as a parent.

We also decided to try out a different medication – Ravicti – which is an odorless, tasteless liquid. If Jacob responds well to it, we may be on our way to removing his G-Tube. (Even so, we will likely wait until we are past the worst of the food-rejecting toddler years. The kid has to have his calories, so mama needs a backup plan.)

Ravicti is a brand new drug, just approved in 2013. For those of your curious about the political and economic factors behind the development of drugs for rare diseases (like Ravicti), as well as some of the reasons why we might want to make the switch, this is a great article from UPenn’s Wharton Health Care.

One final note: Jacob’s citrulline levels have been improving. Citrulline is an amino acid that gives citrullinemia it’s name. Jacob has always had high levels in his blood. In fact, this was the first indicator at the newborn screening that something wasn’t right. Unfortunately, we really don’t know what the effects of high citrulline are over time, and while some people speculate, I won’t do so here. Normal levels of citrulline in the blood run from 4-50 units. At this last visit, Jacob’s levels were in the 800s. However, at the previous visit, they were in the 1200s. I just went back to a blog post from his 3 month visit, and his citrulline at that time was 1635. This means that in the course of a year, his plasma citrulline levels have halved. That’s a positive trend if I’ve ever seen one.

In the News

More research on better therapies for Citrullinemia, in the news just a few days ago:

“Dimension Therapeutics, Inc., a biopharmaceutical company advancing novel, adeno-associated virus (AAV) gene therapies targeting the liver, a central organ for devastating rare diseases, today announced a comprehensive research collaboration and license agreement with the Perelman School of Medicine at the University of Pennsylvania to advance treatments for inherited metabolic diseases. Exclusive programs under the collaboration will address citrullinemia type 1, phenylketonuria (PKU), and Wilson disease, rare diseases which often have devastating outcomes for patients and their families and for which there are few effective treatment options.”

Says Dr. James Wilson, M.D., Ph.D., professor of Medicine and Pediatrics and director of the Orphan Disease Center at Penn Medicine: “We believe these therapies, based on extensive, peer-reviewed preclinical validation and testing, have the potential to transform patient care and give clinicians new options to treat previously intractable diseases.”

Keep the faith, friends! New research is happening every day that may one day cure my special baby.

Books

There are so many things about Jacob at 15 months that I never ever want to forget. The way he gets down to Wiz Khalifa’s song “Black and Yellow.” His inexplicable obsession with taking the potholders out of the kitchen drawer. His laugh that’s really more of a bark/scream and yet is utterly wonderful. How he hugs all his little friends when he sees them.

Of all the things I want to remember, Jacob’s love of reading is easily in the top ten. Sometimes I will find him in his room, by himself, turning the pages and exclaiming at his favorite pictures. Other times, he will bring a book to his dad and then run to snuggle up in his lap, ready to hear his favorite stories. People, I am so lucky to be this kid’s mom.