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.

COLOR-POP

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.

IMG_2783

No grocery trip is complete without a banana snack.

IMG_2778

Bird-watching from the back patio.

IMG_2711

Stacking blocks is a favorite playtime activity.

IMG_2698

And he has mastered the art of the chunky puzzle.

IMG_2688

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

IMG_2685

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

IMG_2678

Peek-a-boo never gets old.

IMG_2123.JPG

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.

IMG_2017

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.

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.

The Plague

A brief health update on Jacob.

Last Saturday, Jacob started to sniffle. Next thing we knew, he had developed a full-blown upper respiratory infection, complete with rivers of thick green snot and a fever. We pulled back on his protein intake – He wasn’t hungry anyway. – and kept tabs on him. Daddy got evacuated from the master bedroom so I could have a comfortable sick room for us to basically lay in bed all day.

This was terrible timing, because Jacob’s Uncle Kevin and his family were visiting.

We were hoping for a quick recovery, but on Monday afternoon Jacob started acting strange, crying pitifully and shaking. Jacob’s Mamaw and I rushed him to the Lakewood Ranch hospital. I didn’t feel we even had time to go to Tampa General.

When they told me his fever had reached 105, I was floored. How did I not notice that he was getting worse? Was he regular sick, or, to borrow a phrase from my fellow citrullinemia mom blogger, citrusick?

Jacob barely moved when they drew blood and set up the IV, just reached for me crying, “Mama, mama” so, so softly. I steeled myself for a long hospital stay.

His ammonia was 16.

16.

That’s the lowest it has ever been.

We gave him Motrin and his temperature dropped to 102. We were home by bedtime.

You know, I have no idea what an ammonia crisis looks like for Jacob. I don’t ever want to find out. Regular sick is hard enough.

 

On House of Cards and Liver Transplants

Spoiler Alert – If you haven’t watched Season 4 yet, you might want to skip this post.

house-of-cards-season-4-release-date-uk.jpg
Whether you hate to love or love to hate Frank Underwood, there is no question that this season – with the attempted assassination, wild hallucinations, and the emergency liver transplant – was intense and even sometimes difficult to watch. Perhaps especially for me. I don’t even know if I would have paid much attention to the doctors description of high ammonia levels before Jacob, but now that I’ve received an unwelcome education, I watched rapt, terrified of what can happen when a liver fails to do its job.

I haven’t discussed liver transplants much (at all?) on this blog because that course of treatment is not currently part of the conversation with Jacob’s doctor. A liver transplant would “cure” Jacob’s citrullinemia. We could serve him a prime rib the next day. (Actually, there would probably be some restrictions on what you could eat the day after major surgery, but you get the picture.)

There is some disagreement in the UCD community over whether it is wiser to transplant early and often, if you will, or manage the disorder with diet and medication, as we have done for the last 13 months. In short, the arguments, as best I understand them, go like this:

Pro-Transplant: This disorder is a ticking time-bomb. A single crisis of hyperammonemia, and the child could suffer permanent brain damage. Besides, we don’t know what effect the permanently high citrulline levels (in children with citrullinemia, specifically) have on the brain. Some people contend that high citrulline can cause headaches and autism-like symptoms in otherwise well-managed children. Also, we don’t really know the long-term impact of ammonia scavenger medications like Buphenyl. In short, it is safer to transplant, because issues related to transplants are more predictable. There is simply more research. In fact, a 2013 study determined that “[liver transplant] was associated with the eradication of hyperammonemia, removal of dietary restrictions, and potentially improved neurocognitive development.”

Sounds pretty good, except…

Anti-Transplant: An organ transplant is a major surgery, and irreversible. Why would you take the risk of transplanting an otherwise healthy child, when the treatment options and management protocols for UCDs are getting better every day? Either way, the child will be on some kind of medication permanently, whether it’s an ammonia scavenger drug or anti-rejection immunosuppressants. Besides, considerable research is being done on liver therapies that could eliminate the need for transplant well within our lifetimes. If the UCD is well managed, it’s better to wait and see what kinds of options you will have in the upcoming years.

So, yes, we are somewhere between the devil and the deep blue sea here.

Last year, in coordination with the National Urea Cycle Disorders Foundationthe Patient-Centered Outcomes Research Institute (PCORI) approved a $2 million study to determine which treatment approach, if any, has the best outcomes. The project is scheduled to take 37 months. Is it possible that we will be able to put this debate to rest by the time that Jacob turns 4?