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.

 

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.

Jacob is tougher than I am.

I am tired. Jacob came down with a cold? stomach virus? and after three episodes of vomiting we were forced to take him to Tampa General for labs and IV fluids. By now we know to ask for the vascular access team, so the blood draw was no more upsetting to him than having his temperature taken (which, to be fair, upsets him quite a bit). Happily ammonia was 37 and we needed to stay only a few hours to get him rehydrated. Of course the little bugger took two bottles like a champ without vomiting in the hospital, and vomited the entire contents of the bottle we offered him when we got home. I was scared that he would get worse in the night, so I slept on the floor in his nursery so I would hear every toss and turn.

Today he is better. And I am tired. Of all of it.

I just want to cuddle my baby when he’s sick, not take him to the hospital to force fluids in him.

Because if you think I’m tough, I’ve been fooling you. Jacob is tougher than I am. This is him at the hospital yesterday (less than an hour after vomiting up an entire bottle on his dad, the rocking chair, and the nursery floor).

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Look at that smile. Like nothing is wrong in the world. Thank God for that smile. Thank God for my husband, who is strong when I’m not. Thank God for Jacob’s grandparents, who rushed over the moment we called to pack up my half-prepared lunch and hold Jacob while we cleaned up the nursery and packed for the hospital. Thank God for Jacob’s grandparents who live miles away and offered prayers and support from afar. And thank God for God, who has had His hand on Jacob from the beginning. The only reason I’m standing right now is because I’m leaning on Him.

So this showed up at my front door today

buphenyl

Thanks to the wonderful people at Hyperion Therapeutics and to the helpful advice of Mindy Mooney, Jacob is now equipped with enough medication for approximately 555 days, at no cost to us.

I am now thinking that part of the trouble we had was that our prescription originally called for an oral suspension rather than a powder, which had to be specially prepared at the compounding pharmacy. However, the powdered version can easily be mixed in water and pushed through his g-tube the same way. So bring on the gram scale, because we are in business!

So do not worry, saying, ‘What shall we eat?’ or ‘What shall we drink?’ or ‘What shall we wear?’ (or ‘How shall we afford Jacob’s medication?’) 
For … your heavenly Father knows that you need them.
-Matthews 6:31-32, with my addition in parentheses

Clinic: Tuesday April 14, 2015

Jacob had his first clinic visit today. Here are the highlights.

We got to see our favorite dietician for the first time in nearly two months. Erika adjusted his formula recipe again to help him keep up his impressive growth. Jacob weighs over 13 pounds now!

Justin and I also met with a genetic counselor to talk about Jacob’s particular mutations and their implications for our future family planning. With a natural conception, we would have a 25% chance of having a child with citrullinemia, a 50% chance of having a child who is a carrier, and a 25% chance of having a child who is completely unaffected. When we are ready to talk about another baby, it will be important for us to be armed with our genetic information so that we can conduct prenatal screening. There is an option to use IVF to eliminate the possibility of having an affected child by implanting only unaffected embryos. This is a great option for some families, but I personally couldn’t do it. Discarding the embryos with citrullinemia would feel like throwing away potential Jacobs.  However, I would want to have prenatal testing done so that, if necessary, we could begin to treat right away rather than wait for the newborn screening results.

Finally, we saw Dr. S, who was pleased with Jacob’s progress so far. However, we will have to wait a few days for the results from the ammonia test and amino acid panel, which are the numbers that will tell us more definitively where Jacob stands metabolically. It is still too early to tell whether Jacob has a mild or moderate case. Dr. S feels fairly confident that his case is not severe, because he would already have experienced a metabolic decompensation. We do need to remember, however, that the first year is sometimes easier for a child with a urea cycle disorder. Dr. S called it the “honeymoon period.” They grow so rapidly that their bodies are using the proteins before they have a chance to become toxic. When Jacob’s growth rate slows, his tolerance for natural protein may diminish. In other words, this is not a predictable disorder. We are thankful that Jacob is healthy today, and we will leave tomorrow in God’s hands.

Finding Buphenyl, Part Two: an update

buphenyl breaking bad

If you read the comments on my earlier post regarding my quest for a reliable and affordable source of Jacob’s lifesaving ammonia scavenger drug, you saw that Mindy, mom of the lovely boys Connor and Corrigan, gave me some leads to follow. So, an update seems to be in order.

I did find a compounding pharmacy that contracts with Medicaid: Bay Life Pharmacy in Clearwater. However, Medicaid is currently refusing to cover Jacob’s prescription. We are appealing that decision. In the meantime, the wonderful people at Bay Life Pharmacy worked with me to get the price down, which is a start.

I also followed Mindy’s lead and called the UCD support line at Hyperion Therapeutics. They were able to direct me to the National Organization for Rare Disorders, which offers financial assistance to families in situations like ours. I sent in the application and am hoping to hear back soon.

Today, I had the great privilege of speaking with Cindy LeMons, Executive Director of the National Urea Cycle Disorders Foundation. I learned from her that there are other ammonia scavenger drugs either available or in development that Jacob may have access to in the future. I was already somewhat familiar with Ravicti, but there are apparently other drugs in development as well, one of which I believe to be currently available in Canada. If you are so inclined, please consider supporting the NUCDF so that by the time Jacob is Corrigan’s age, children born with Citrullinemia and other UCDs will have more and better options for medications to manage their condition.

Stay tuned for further updates as my quest progresses.