U is for Urea Cycle Disorder

U is Urea Cycle Disorders

U is for urea cycle disorders, specifically Carbamoyl Phosphate Synthetase I Deficiency (CPS I). CPS I is a genetic condition that results in the inability to break down ammonia in the liver. It is a recessive disease, which means that to have the disease one must have inherited the defective genes from both parents. Although a strict diet can be used to prevent worsening of disease, the only treatment is a liver transplant.

Today, I am going to share Liam’s story, paraphrased from his parents, Rob and Jenn.

Liam just after birth

Liam just after birth

After 29 hours of labor, Liam was born on April 30, 2013 at 7:50 am. Jenn and Rob loved Liam from first sight. He was strong and active. Due to the prolonged labor and increased risk of infection, he was required to remain hospitalized for 48 hours. This ended up being a miracle for them all.

On the night of May 1st, Liam began showing signs of discomfort and agitation. He began struggling for breath. The next morning, he was transferred to the neonatal intensive care unit (NICU). By 3:00 am on May 2nd, Liam was having seizures and became non-responsive. At this point, test results were coming back and he was transferred to University of New Mexico Hospital (UNMH) to treat elevated ammonia levels in his blood. He was also transferred from the NICU to the PICU (pediatric intensive care unit) so that he could undergo dialysis to clean the ammonia from his blood. He had dialysis daily but there was little response to his comatose state until after his third treatment on May 4th, Liam opened his eyes.

Liam just after his seizures.

Liam just after his seizures.

Liam's ambulance ride to UNMH

Liam’s ambulance ride to UNMH

It was determined that Liam had a urea cycle disorder, initially, it was thought to the be an Ornithine transcarbamylase deficiency (OTCD) which occurs in one out ever every 80,000 births. Further genetic testing showed that Liam actually had a much rarer urea cycle disorder, Carbamoyl Phosphate Synthetase I Deficiency (CPS I).

Jenn and Liam

Jenn and Liam

In September 2013, Liam had multiple procedures performed including injection of stem cells into his portal vein (a large blood vessel that goes through the liver) to help his body deal with the ammonia levels for the time being and the placement of a feeding tube. He still had struggles, but was doing really well given the circumstances. Discussions started to take place and planning for a future liver transplant began. 

Liam's first Halloween

Liam’s first Halloween

 

In October he started a cycle of vomiting every other day.

In November he was back in the hospital for 5 days trying to get his ammonia levels under control.

Liam's first Christmas - lots of toys, but he wants to play with the nasal aspirator!

Liam’s first Christmas – lots of toys, but he wants to play with the nasal aspirator!

In mid-December, Liam was again hospitalized, this time he was in longer and spent his first Christmas in the hospital. He was finally sent home on January 6, 2014. Despite the only cure for CPS I being a liver transplant, insurancecoverage for his transplant was denied. Jenn and Rob finally found a lawyer that was willing to represent Liam, Mr. Roepke.

 

On February 1, Rob and Jenn sent out the following message, “[The insurance company] called Jenn on Friday to say that they had overturned the denial and that we will be approved to go to Stanford.Jenn and I would like to express our deepest gratitude to our doctors for their perfectly executed contributions to our appeal, their sacrifice of time, and their obvious care and concern for Liam. Dr. Joel Berger is Liam’s pediatrition, Dr. Sarah Bluefeather is from the Department of Pediatrics at UNMH, and Dr. Heidenreich is Liam’s Biochemical Geneticist from the Metabolic Program at UNMH and the individual most responsible for Liam being alive today. We are overwhelmed by the dedication of these professionals. We also owe a great deal of thanks to Mr. Roepke who took on the challenge of representing Liam, put hours of labor into reading, research, meetings and phone calls, and then refused to charge us for any of his work. Jenn and I feel truly blessed with the good fortune of knowing these individuals, and we are amazed at their compassion and selflessness.

A recent Liam picture!

A recent Liam picture!

Once the transplant was accepted by the insurance company, things began moving much faster. Additional testing had to be done and a central line placed to make blood draws and IV medications easier on Liam. One of the tests was an echocardiogram (ultrasound of the heart) that was rechecked as a patent foramen ovale (PFO) was found, but was not found to be a hindrance to transplant surgery.

On April 23, 2014, I received word that Liam was having his transplant. As of the writing of this post, Liam is in surgery, his liver has been removed and they are preparing to place the new liver. Please keep Liam, Jenn, Rob, the rest of the family, the medical staff, and the donor and donor’s family in your thoughts and prayers.

A donation fund has been set up to help with expenses not covered by insurance – estimated to be around $65,000.00. If you are willing and able please consider a donation to http://cota.donorpages.com/PatientOnlineDonation/COTAforLiamL/

Consider organ donation. One organ donor can save 8 lives and effect the lives of more than 50 people. 18 people die every day while waiting for an organ transplant. You can even be a living donor, like my friend Kelly Wright.

UPDATE: Liam got out of surgery about 11:30 pm last night (California time).  He is heavily sedated and they hope to extubate (remove the breathing tube) tomorrow. The donor liver was a little big, so they had to trim it. Other than rejection of the liver, the biggest concerns are bleeding, blood clots, infection, and fluid retention. The little guy is swollen from all of the fluids and blood products he received, but he is alive!

Image thanks to Lizzie Hug. For image information or use please contact  lizzie_hug@hotmail.com

Image thanks to Lizzie Hug. For image information or use please contact lizzie_hug@hotmail.com

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10 thoughts on “U is for Urea Cycle Disorder

    • Thank you so much for asking. My latest update was that Liam is doing well. They extubated him and he didn’t care for that! He pulled out a central line, but other than that he is doing well. He actually opened his eyes and looked right at his parents before nodding off again. Thank you for your thoughts and prayers!

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  1. Sending them loads of prayers! How hard that must be to go through! I just couldn’t imagine. And here I am not complaining, more like going through depression because of my situation. I feel so horrible for being so selfish when things like this happen. I do hope things are going well for Liam and his family and that they can get the financial assistance they need.

    Jamie Dement (LadyJai)
    Be Positive in Life and Writing
    Caring for My Veteran

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    • He is doing pretty well considering. There have been some additional struggles since the transplant, but overall, he is doing great. I don’t think you have to worry about being selfish. Everyone goes through things in life and you deal with what you have going on. Depression in and of itself is a major issue. Having been there, I understand. I would also say that when things happen to other people, it makes us reevaluate what is going on in our own lives. That is what brings out our empathy and humanity. Take care, Jamie. You are a wonderful person.

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  2. Hello there my name is Luis and My baby Leon also has with a urea cycle disorder known as hhh syndrome and is also a very rare disorder just like Liam. Although Leon’s condition can not be cured by a leaver transplant the disorders have many similarities, If anyone knows who to get a hold of Liam’s parents please contact me at skyline_149@yahoo.com. I would love to know about them and there baby; the way it has affected there life’s and the any the saw Liam as he grows everyday. I would appreciate it very much if anyone knows how to contact them.
    Thank you everyone
    -Luis Orozco

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    • Luis. I am very sorry to hear of your son. I will keep you and your family in my prayers. I have passed your information on to Liam’s mother and will leave it in her hands to contact you. I know they are still very busy with all of the post transplant and other health issues going on. Blessings to you.

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