If you have read here for very long you already know a little bit about Urea Cycle Disorders. Our amazing son, Corrigan, was diagnosed after deteriorating quickly over the first five days of life. Thankfully, in what we believe was the Divine hand of God, we were given the answer as to why Corrigan was not responding, was experiencing seizure-like activity and could not tolerate any feeds without vomiting.
For five full days his little brain was saturated with toxic ammonia due to the fact that his liver was deficient in a certain enzyme that should have removed ammonia from his bloodstream and also due to lack of knowledge about the disorder by the doctors treating his symptoms.
Speaking of symptoms…do you know someone that is pregnant? Ask them if they have ever heard about Urea Cycle Disorders. According to the NUCDF:
“Urea cycle disorders (UCD) are estimated to occur in approximately 1:14,000 births. This is is comparable to the incidence of childhood cancers, and means that every day a baby is born with a urea cycle disorder!
Many experts believe the estimate is low–children and adults are still unidentified, undiagnosed or misdiagnosed, with tragic consequences including developmental delays, seizures, brain damage, coma or death. Common misdiagnoses include sepsis and SIDS (sudden infant death syndrome) in infants, epilepsy, autism and hyperactivity in children, and drug intoxication, ADHD, and even stroke in adults.”
Those tragic stories of Sudden infant Death Syndrome? Some of those could very well be undiagnosed Urea Cycle Disorders. Had we gone home with Corrigan, after two days, like I begged my OB/GYN to allow…Corrigan would have died. No joke. Not a tiny bit of hyperbole. I would have thought, “Hmmm…he seems awfully sleepy, it is strange that he won’t really open his eyes fully, wonder why he won’t latch on to breastfeed like his older brother did so well…guess I should just be thankful to have a baby that sleeps!” and then by Sunday or Monday, he would have gone to Heaven. I am sure of it. We almost lost him, even while under careful medical observation, with tens of thousands of dollars of testing and equipment monitoring everything…because the doctors did not know about UCD’s.
I had a c-section. My OB/GYN thought it prudent to stay one more day. Thank God she made that decision. I am ashamed of my petulance when she told me we were not going home quite yet. *slaps forehead*
Awareness makes the difference. Some symptoms of a Urea Cycle Disorder:
Is your baby vomiting after feeding?
Is your baby refusing to feed?
Is your baby lethargic and hard to wake?
Is your baby breathing rapidly? Corrigan was breathing fast and shallow, like he was hyperventilating.
These were all signs that Corrigan displayed, and are classic symptoms of a Urea Cycle Disorder, and while they were all duly noted, the connection to a metabolic disorder was missed. For five VERY long days.
We still do not know the extent of the hit his little brain took.
If you know someone that is pregnant, tell them about these symptoms and if they recognize the signs in their baby, seek immediate medical attention.
Corrigan was not the first child diagnosed with this disorder and he will not be the last. Every day one child is born with a Urea Cycle Disorder and the terrifying journey begins for that child and the family that loves them so dearly. That family will want the very same thing that we wanted the moment we learned of the disorder…a cure.
I know that I have talked about the National Urea Cycle Disorders Foundation (the NUCDF) many many times and I hope that you will humor me once more.
“The National Urea Cycle Disorders Foundation is the only organization in the world solely dedicated to saving and improving the lives of children and adults with urea cycle enzyme deficiencies. NUCDF is a lifeline to affected patients and their families all over the world, and a vital resource to the medical professionals who treat them. NUCDF is leading the fight to conquer UCD.” I am asking for your help.
The NUCDF has announced a wonderful event called “Cure the Cycle Challenge” to bring awareness, and raise $25,000.00 for the National Urea Cycle Disorders Foundation! Cyclists will be biking 100KM from California’s Great Highway along the Pacific Ocean in San Francisco, across the Golden Gate Bridge, northward into Marin County, and BACK! Each member of the national team, the Hyper Cycles, is riding to represent one of the urea cycle enzyme deficiencies (OTC, CPS, ASA, etc.)
For those of us unable to make the trip to San Francisco, let alone have the lung capacity to bike 1oo km, (*gasping just thinking about it*) the Foundation has a way for families to participate as virtual riders for the event.
Our team goal is to raise a minimum of $500.00 for the National Urea Cycle Disorders Foundation but there is no reason that we can not shoot for far more than that! I realize that the economy is in the tank right now. Personally, we barely have one arm out of the financial hole that we were stuck in for nearly 12 months during Mark’s unemployment, so I understand that parting with hard earned, necessary cash is tough.
Would $5.00 be too much to ask? It wouldn’t take long for several $5.00 donations to add up to something bigger and our family would be so incredibly appreciative of anything at all that you could spare for this important cause. Won’t you join Corrigan’s Cycler’s in funding research, and spreading awareness of this rare disorder? Your donations go directly the the Foundation and are 100% tax deductible!
If you are unable to donate I hope that you will not think it to bold of me to ask for your prayers.
Prayers for the cyclists that will hit the road, cycling 100 km on behalf of those not-yet-born and those that are well on their journey and hopeful for a cure?
Prayers for the doctors that are confronted with a very sick baby, who may have never seen such confusing symptoms, that have never treated a Urea Cycle Disorder…would you please pray that they find their way to a diagnosis quickly?
Would you pray that the precious brains of those living with a UCD are protected daily from the effects of the disorder?
Would you pray that Corrigan’s metabolic stability continues, that his immune system be fortified against germs and viruses and that his brain will find new pathways to overcome the damage done those first days of life?
Would you pray for a cure?
We covet, and cherish, each prayer that you send up on behalf of Corrigan. We thank you all for your unwavering love and support…without which we would be so lost.
Thank you so much for reading…
All of our love,
Mark, Mindy, Connor and Corrigan