Update: November 2019

I’m not sure if anyone is still following this blog – but I am sure that families of newly diagnosed kids probably come across it now and then. I thought an update might help as encouragement in those difficult days of diagnosis and uncertainty.

I just had Jacob’s first parent-teacher conference of his Junior Kindergarten school year yesterday. Jacob is 4 1/2 years old, turning 5 in February. He is curious, capable, charming and funny. He loves books, music, Spiderman, and making friends. He has weathered so much in his young life – but nothing seems to get in the way of his joyful and enthusiastic approach to life.

Jacob is now completely off of the metabolic formula and getting all of his calories from food. He’s picky like your average toddler, but his growth is right on track and his bloodwork indicates that he is healthy and well nourished. He even eats school lunch now and then, and his teachers are great about working with me on a google doc to keep track of his food. He also had his g tube removed this year (!), which was a long process that required two surgeries. He was actually reluctant to have it removed, but he seems to have completely forgotten about it at this point.

I have been working with his metabolic team to eliminate interventions, in the hopes that Jacob’s body can do most of the work to keep his brain safe and healthy. So far, he has responded well to all of them. All signs suggest that he will live a “normal” and healthy life until such time as there is a cure for citrullinemia – which I believe there will be!

Take a look at this adorable little man. I can’t even. He gives me all the feels.

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Toddler Adventures with Jacob

Oh, the joy of toddlerhood.

Everything in the world is something to be discovered, manipulated, and explored.

Here are a few scenes from some of Jacob’s latest adventures.

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No grocery trip is complete without a banana snack.

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Bird-watching from the back patio.

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Stacking blocks is a favorite playtime activity.

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And he has mastered the art of the chunky puzzle.

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Our kitchen helper stand is perfect for splashing in the sink.

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We swim in the pool almost every day, and afterwards Jacob is really hungry!

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Peek-a-boo never gets old.

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Cooling our toes in the fountain after a steamy morning outing at the Bradenton Riverwalk.

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.