Today is a very important day!
Today is Rare Disease Day sponsored by the National Organization for Rare Disorders.
Why are we highlighting this day?
(taken from the Rare Disease Day website)
“The rare disease patient is often the orphan of the healthcare systems around the world. These patients often go without diagnosis, without treatment, without research and without reason to hope”
Nearly 30 million Americans are affected by almost 7000 rare disease ( National Institute of Health)
As most of you know…Corrigan has a rare disorder called Type I Citrullinemia. Corrigan’s disorder affects 1 in 57,000 people worldwide.
(we made a sign. it got slobbered on. wonder how that happened?)
What is a Urea Cycle Disorder?
“A urea cycle disorder is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, and is not removed from the body resulting in hyperammonemia. Ammonia then reaches the brain through the blood, where it causes irreversible brain damage, coma and/or death” ( NUCDF website)
(there may, or may not, have been something taped to the back of the sign to hold Cor’s interest)
When Corrigan is what we call citru-sick” ( not an “official” term…just one that we use to differentiate between regular sick and sick with his disorder) he displays some of the following symptoms
- Anorexia (the human body is amazing…it knows it is unwell and therefore refuses the very thing that is making it sick…food)
- Irritability (Corrigan becomes agitated and aggressive)
- Heavy or rapid breathing (When his ammonia was very high, shortly after birth, his breathing was like a long-distance runner…his body’s way of trying to rid the ammonia just like a runner huffing out carbon dioxide)
- Lethargy (this is a sign that things are deteriorating quickly. Corrigan is often agitated and angry first, then manic and “drunk” and finally lethargic…once he becomes lethargic and limp…the clock is already ticking. This is scary stuff.)
- Vomiting (I thank the Lord each and everytime that Cor is citru-sick that He made it so that Corrigan vomits when his ammonia is rising. Not all children, with dangerously rising ammonias, vomit as a symptom and it is much harder to tell when things are deteriorating…thank goodness for emesis!)
- Disorientation (Corrigan has not experienced this yet. I have heard that sometimes the children do not recognize their own parents when hyperammonemic. How frightening.)
- Somnolence (Corrigan gets VERY drowsy when his ammonia is over 100. It is nearly impossible to stop him from slipping off to sleep as the ammonia begins to poison his brain)
- Asterixis (rare) (flapping of the wrists…Corrigan has never experienced this)
- Combativeness (oh my, yes.)
- Obtundation (I believe that this means “confused”…it is hard to tell when a baby is confused…but Corrigan definately can appear to be “drunk” when hyperammonemic. He also becomes strangely manic right before he becomes sleepy. He will flip back and forth, with little regard to his surroundings, stumble, have a hard time sitting upright and will laugh…at odd times)
- Coma (we don’t like to talk about this)
- Cerebral edema ( I don’t know. The doctors have never said)
- Death (if treatment is not forthcoming or effective) <—obviously not!
(this is how Corrigan feels about coma and death)
Corrigan is being treated by a wonderful team at John’s Hopkins hospital in Baltimore, Maryland. He benefits, daily, from medicine, arginine supplementation and a medically restricted diet. Corrigan is, for all intents and purposes, a vegetarian.
There is no “cure” for a Urea Cycle Disorder (yet!) however, transplanting the liver removes Citrullinemia from the table (but has its own host of health issues)
(balancing things on his head is NOT a symptom of his disorder…nor is his love for sweeping up doghair with his hands)
Citrullinemia isn’t something that you can see on the outside. By looking at him, I am sure you would agree that he looks perfectly healthy. However, Citrullinemia is sneaky, cruel and potentially lethal…every single day. We try not live a life of fear. I plan to teach Corrigan that he has a disorder but it isn’t an excuse. It is a challenge…one that I think that Corrigan will be up for…my beautiful, stubborn and strong-willed little boy.
Corrigan has been “healthy” for nearly 8 months now. By “healthy” I mean that he has not had any hyperammonemic/emergency episodes since the weekend of July 4th, 2009. This stretch of metabolic stability is after a 13- month period that Corrigan experienced 11 hospitalizations.
I thank God, daily, for his continued stability. I know that, at any moment, we could find ourself in the same place that our pal, Coulby, is in right now.
Coulby changed everything for us one special day in June of 2008.
We had read all of the information when Cor was first diganosed , we had heard from the doctors, we knew that we were facing a lifetime of unknowns…possible mental retardation…even the loss of our child completely…and then in walked Mr. Coulby.
Four-years old…all smiles and bright, intelligent eyes, shy but social…so normal. I could barely breathe just looking at Corrigan’s possible potential.
The brightest light in the world, to us, that day.
Proof that sometimes what you read is wrong. That there are exceptions to every rule.
Something to hope for.
…but today Coulby is citru-sick, after 12 months of excellent metabolic health, and my heart hurts for his Mama. My hands want to rub Coulby’s hair. I wish that I were closer to hand out lots of hugs, copious amounts of coffee (to Murissa, not Coulby!) and lots and lots of gossip magazines to take Coulby’s brave Mama’s mind off of this recent reminder that her boy is living with a rare disorder.
I am glad to spotlight Citrullinemia today…for Corrigan…and Coulby…and all of our other friends that want nothing more than to take away their loved one’s pain.
Everyone deserves a chance at a cure…no matter how rare the disease.
By ourselves we are “rare”….together we are STRONG!