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.

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.

 

Excuses

It has been a long time since I have published a post. Months. The longest since I began this blog.DSC_0361

Here are my excuses.

  1. Jacob has been doing great. This is the happiest reason to not publish. We haven’t been to the hospital since I can remember. If you are reading this, please shout hallelujah and knock on wood at the same time, just to cover all our bases.
  2. I have been doing lots of writing outside of this blog. I have the great fortune to be working as a freelance marketing coordinator for Big Sea. I can’t even tell you all how lucky I am to have stumbled into this job. I work for and with amazing people who live their values. If you need marketing services, you would be foolish to hire anyone else.
  3. I have a 13 month old at home. He’s walking. He has figured out how to open doors. I no longer sit down.

But, enough with the excuses. It’s time to ramp up this blog again, because it brings me great joy to talk about my little ray of sunshine, and because my mission – to become a resource for other citrullinemia parents – has not wavered.

Also, I know a whole heck of a lot more about blogging now. And I might as well put that to good use.

Clinic, and the surgery that wasn’t

This week was a busyJacob USF citrullinemia clinic one in Jacob world. Jacob turned six months old (!) this past Sunday, so it was time for his six-month clinic visit. We made the trek up to USF on Tuesday to check in with our dietician Erika and the metabolic geneticist Dr. S. Jacob charmed one and all with his sweet smiles, and even thanked Erika for her endless efforts on his behalf with a big hug. (I wasn’t quick enough with the camera, though, so in the photo he is looking at his daddy.)

Jacob clocked in at 20 lbs 10 oz and 28 inches long. Everyone was delighted to see that he was physically and developmentally on track. It was especially striking to me that he was just starting to babble at our last visit, and now he is sitting up and saying “Mama”! He is also grasping at anything and everything nowadays, which means it’s only a matter of time before he yanks out his Mic-Key button. In the picture you can see Justin trying to distract him from doing just that!

Jacob was very brave for his blood draw, which was sent off to the lab to check his ammonia levels, liver function, and Jacob USF citrullinemia clinicbranch chain amino acid levels, among other things. We are still waiting for those results.

At lunch after clinic, with a very tired Jacob sleeping in his stroller, Justin and I marveled over the genuine love that Dr. S. and Erika show towards Jacob. I don’t use that word lightly. They would – and have, and will – move mountains to keep him as healthy and thriving as he has been in the first six months of his life.

While at clinic, we also checked in with Dr. S. about procedures for Jacob’s surgery scheduled for Thursday August 6th. (Surgery, what?!?) When Jacob’s surgeon placed his g-tube on February 13th, he saw that Jacob had two inguinal hernias. We were advised at the time that we would need to have them surgically corrected sometime between 8 weeks and 6 months. Since Jacob had already been through so much, I opted to wait as long as possible and scheduled the surgery for August 6th. Because Jacob has a metabolic disorder, it is unsafe for him to fast, especially before undergoing anesthesia, so we had him admitted to the hospital on Wednesday night so that he could have IV fluids with dextrose while NPO. After a very uncomfortable night in a hospital “recliner,” (for me – Jacob slept great in his crib) we were ready for the surgery. Even though he must have been hungry, my little trooper was smiling, and then promptly fell asleep in his daddy’s arms in pre-op.

Our surgeon, Dr. R., came to check in with us, reassuring us that he had been texting with Dr. S. and that she had instructed him to take good care of “her baby.” As he went back for surgery, we were told to expect about an hour and a half, so we decided to grab a quick bite to eat to take our minds off of it all.

When we returned after an hour at lunch, we were quickly ushered back to post-op. The surgeon was waiting for us and, wait, was that a grin? And why was Jacob already out of surgery and happily gurgling in the arms of the post-op nurse? “Well,” said Dr. R., “this was an unusual situation. We went in with the camera, and there were no more inguinal hernias. They had healed up completely.” He went on to tell us that he had done hundreds of surgeries exactly like this, and this was the first time he had seen this happen. Moreover, one of his colleagues was literally writing a book on the topic, and had stated in the book that inguinal hernias never close by themselves. A quick internet search just moments ago resulted in the same information: “Inguinal hernias never go away without treatment.”

We have photos of the hernias from the first surgery, labeled with Jacob’s official hospital label and brought to us personally by the surgeon immediately after his surgery. And we have photos from today showing the same areas, completely closed.*

Explain that, science.

Jacob is my little miracle baby.

Jacob Tampa General Hopsital post-op

Jacob recovering from the surgery that wasn’t

Post Script: I absolutely adore the amazing people who work at Tampa General Hospital. In the last six months, we have been there once as outpatients and three times as inpatients, and every time we have been treated with kindness and respect by everyone we encountered. We couldn’t ask for better care for Jacob. Kudos to you, TGH.

Case in point, this charming tag they put on Jacob’s door today indicating his metabolic needs. Love.

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*I may post these at a later date, but I am too worn out today to get up off the couch and scan something. #firstworldproblems.

Friday Photo: Selfie Series

It has been a fairly quiet month on this blog, which is certainly not a bad thing. Things have been humming along in Jacob world, and he is doing so well! I am overdue for the June video (coming this weekend!) and soon I need to post about our upcoming adventure in solid foods (gasp!). We are going to be trying baby-led weaning. It will be my job to estimate how much food (protein) ends up in Jacob’s mouth and how much ends up smooshed on the tray table, in between baby folds, in his hair, and on the floor. Stay tuned for more details on the nitty-gritty of baby-led weaning with citrullinemia.

In the meantime, a photo series:

Designer Bacteria?!

Jacob is doing awesome. There’s no question of that. He has amazing doctors, a wonderful nutritionist, and his condition is well managed. But let’s face it… “well-managed” is not the ideal. “Cured” is the ideal. And there may be hope on the horizon!

Yesterday, I ran across this article: “Ex-Pfizer Exec Gutierrez-Ramos to Lead Synlogic’s ‘Smart Bug’ Plan.” It sounds like science fiction. The concept is that scientists can engineer bacteria to find a disease or infection, treat it, and then self-destruct. You would think they would start going after big fish first – breast cancer, heart disease – but instead they are first going to target UCDs!

“Given this is a new, unproven technology, Synlogic’s strategy is to start out going after a few rare diseases, where the ‘benefit-to-risk ratio is extreme,’ and the company can know quickly whether it’s onto something, [CEO Gutierrez-Ramos] says. Its first two candidates will target urea cycle disorders (UCD), the name for a group of genetic diseases that trip up the body’s waste-disposal system; and phenylketonuria (PKU), an inherited disease characterized by the abnormal buildup of an animo acid called phenylaline…”

Can you imagine? It’s like a real-life magic schoolbus filled with citrullinemia-fighting ninjas. What if Jacob could be cured – really cured, not liver-transplant cured – with something as simple as a shot?

My Overachiever

Erika called me a few days ago with amazing news. Jacob’s blood test results came in.  One test determines the levels of various branched-chain amino acids in Jacob’s blood. These amino acids, which include isoleucine, leucine, and valine, come from the natural protein he takes in through carefully-measured amounts of breast milk. The test helps us to know that Jacob is getting adequate nutrition and that his body is processing the breast milk well. The other test is a comprehensive metabolic panel, which gives us more information about his liver and kidney function, among other things. Erika says that not only were his levels for both tests normal, but for the most part they were right in the middle of the normal range. She called Jacob an overachiever, and I couldn’t help feeling so proud of this little boy chattering happily in my arms.

baby rattle(One exception: His citrulline, as expected, was high. Normal range is 4-50. His was 1635. Yikes. But, that is to be expected given his diagnosis of citrullinemia.)

In other news, Jacob is starting to learn to grasp and shake a rattle. See, Erika was right, he is an overachiever. So proud of this little guy!