Madison Sonja Van Leeuwe lost her battle against Carbamoyl Phosphate Synthetase in Madison Sonja Van Leeuwe was born on Christmas Day 2009 after a normal labor and delivery.  After an uneventful hospital stay, Madison was discharged home two days later.  Only a matter of hours after she was home, Madison began having difficulties breathing and started turning blue. She was rushed through a Minnesota blizzard to the nearest emergency room, which was located about 8 miles away.  That was where Madison began having seizures, was intubated, and flown by helicopter to a larger hospital in Sioux Falls, South Dakota.

Madison had many tests done for what was thought to be some type of infection. By the following afternoon, Madison was transferred across town to a different hospital to be evaluated further by a neurologist.  The next hospital did multiple tests including an ammonia level, which revealed an extremely high level.

The doctors there got in touch with the genetics doctors at St. Mary’s Hospital (Mayo Clinic) in Rochester, Minnesota.  After only a couple of hours of being in that hospital, we were informed that the doctors were suspicious that Madison was suffering from some type of metabolic disorder and that we would need to be transferred to Rochester.

Madison spent the next nine to ten weeks in the NICU at St. Mary’s Hospital, while the doctors tried to stabilize and learn more about Madison’s mysterious diagnosis, which was later confirmed to be CPS (Carbamoyl Phosphate Synthetase).  After many up’s and down’s Madison was finally discharged home near the beginning of March 2010.  Madison was hospitalized multiple times with recurrent ammonia spikes.  She required dialysis on more than one occasion, as well as multiple surgeries for access lines.

Although Madison fought with all she had, it became too much for her body to bear.  The overwhelming ammonia levels had slowly decreased Madison’s brain size and functionality.  Madison’s neurological status was not good.  She no longer carried that sparkle in her eyes, and she looked generally uncomfortable.  We knew she had had enough; we had to let her go.  The only known cure for CPS at this time was a liver transplant.  We had been waiting up until that point, until Madison grew bigger and showed us how her neurological status was developing, before she could be placed on the transplant list.  However, the ammonia levels became uncontrollable, and we placed her on comfort care.  She spent her final days in the PICU at St. Mary’s; it was like her second home.  She passed away on Ascension Thursday, May 13, 2010.

She is not alone in Heaven, as she is in the company of her sister, Sheridyn, whom we said goodbye to on June 24, 2011.  Through prenatal testing, we learned that Sheridyn would have been affected by the same debilitating disorder; we could not bear to put her through that.  Madison has inspired me to share her story with the world, as her story, “A Balloon in the Snowstorm” is the process of being published and is expected out this spring.

My hope and goal is that from what I have learned from my experience with my daughters and in dealing with CPS, that I can raise awareness of CPS in hopes of giving future babies, who are born with CPS, a chance at early diagnosis and a real chance at life.  More information on CPS and other urea cycle disorders can be found at www.nucdf.org.

Thank you for taking time to read my story.

Sincerely,
Sonja Van Leeuwe

 

GLOBAL GENES PROJECT AND RARE PROJECT
RAISING AWARENESS FOR Carbamoyl Phosphate Synthetase (CPS)

1 thought on “A Family’s Fight Against Carbamoyl Phosphate Synthetase Disease”

  1. My daughter, Isabella, also has CPS-1. Bella received a liver transplant when she was 15 months old, and now is a thriving 2.5 year old. You can read our story on my blog at fletchermom.blogspot.com.
    There are not many of us CPS-1 families out there, I have only met one other child with CPS. I would love to talk to you if you would like…
    Courtney

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