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.


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.

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.


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.

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?

The hospital visit I almost didn’t write about

Jacob had a few episodes of vomiting and a mild fever last Thursday, which lead to a hospital visit on Friday. Never mind that the vomiting was probably from his maddening habit of shoving his fingers down his throat. Never mind that the “fever” was probably just overheating from snuggling his little furnace of a body in between us in bed when he wouldn’t stay down in his crib. With citrullinemia, we don’t assume “it’s nothing.”

The bloodwork came back. Ammonia and liver function both normal.

I almost didn’t write about this short hospital stay because it was “just another routine outpatient visit.” At some point, taking my child to the ER for bloodwork and an IV became as unremarkable as a visit to the pediatrician.

But today I decided to write. I write to give weight to the unpleasantness that Jacob has to endure on these visits. I write to give life to his medical records. I write to remember how my sweet baby, exhausted from the trauma of placing the IV, slept in my arms on the narrow hospital bed. How his doctor, in a blue wig and red foam nose on the day before Halloween, came to check on her tiny patient, and how his dietician kissed his sleepy head. How his grandmother sat in the plastic hospital chair in the cramped ER room for five hours to keep vigil over her beloved grandchild.

Until Jacob has the words, I will bear witness to all of his story.