So I have never been one to blog, but I finally felt like blogging might be the answer to educating people about Urea Cycle Disorders. Why would I want to do this? Because I live a Citrulllinemia life. Well, not me specifically, but as the parent of a 4.5 year old with a chronic metabolic disorder, I live the life of caretaker, with one object: to maintain the balance.
My story starts without too much excitement...well, maybe it is kind of exciting, considering I started my marriage with the excitement of the coming new year just over 6 years ago. Yup, I was crazy enough to want to get married on 12/31. And you know what? It was a BLAST!! People still talk about it. The party of a lifetime! I digress...I married my high school sweetheart just over 6 years ago. We have had a happy marriage, balancing the normal upkeep of a healthy marriage, a crazy work schedule (his!), and eventually, the priceless chaos that two adorable children add to our lives. It has always seemed that life has been perfect for us. Everything has fallen in to place easily. We have not had to struggle for much. Our marriage is happy. We have a boy and a girl-the best of both worlds. P-E-R-F-E-C-T. But how boring would life be if it was perfect? Right?
I became pregnant easily when we had been married for about 7 months. We did not waste time! I had the epitome of the perfect (there is that word again!) pregnancy. Our son decided not to make his entrance into this world until he was good and ready, which just happened to be on his daddy's birthday! 1 in 365 chance...what are the odds of that? I guess it happens, but we just thought that was the coolest thing. What a birthday present! I have never outdone it, as you can imagine. Coulby Patrick was a big boy, weighing in at 8 lbs. 1.5 oz. He was healthy and beautiful and his daddy's pride and joy from the moment he was born.
We settled in to our new life as a family of 3, and went through the usual uncertainties of being new parents. Despite our inexperience, at 4 days old, Coulby seemed to be doing just fine, doing all of the things newborns do. Crying, sleeping, eating, pooping...the norm. Nothing unusual. So when we received a phone call from the pediatrician's office alerting us that Coulby's newborn screen had yielded some alarming results, we were both in shock. We were told to take him to Johns Hopkins ER immediately. "They" would be waiting for us. We asked questions, and the only thing the pediatrician seemed to be able to tell us was that the situation could be life threatening. No directions to the hospital. No explanations as to what these numbers might mean. Nothing.
That began our Citrullinemia story. We somehow made it to Hopkins, although for the life of me I could not tell you how. I barely remember riding there. I was numb. We arrived, and sure enough, "they" were waiting for us. "They" turned out to be genetic doctors, as well as a slew of nurses and other assorted people. Coulby had to have blood work done, and an IV put in his tiny arm, his 4-day-old arm, which apparently had teeny tiny veins, because he was poked about 10 or so times before they finally got the IV in successfully. He screamed. We cried. It was the most helpless feeling I have ever felt in my entire life. That night someone found us a room in the hospital so we could get some sleep. Actually, it was more like a utility closet with 2 twin beds squeezed from wall to wall. My husband and I could not even sleep in the same bed that night, to comfort each other and ease each other's fears. We held hands between the beds and prayed. Hard.
When we woke up the next morning and realized the entire night before had not been a dream, we went to be with our baby and find out what was going on. It was confirmed that Coulby's initial newborn screen had yielded accurate results, which meant a diagnosis of a rare metabolic disorder, more specifically, a urea cycle disorder, called Citrullinemia. Huh? That is what we thought, too. It was scary and foreign to us. We sat down at a large conference-type table surrounded by genetic doctors, our two sets of parents, and other people I do not recall. We were educated on what Citrullinemia is, what it meant for our son, and what it would mean for us.
Citrullinemia is a urea cycle disorder in which the body is unable to break down excess protein. This can lead to a toxic build up of ammonia in the body, also known as hyperammonemia. At such toxic levels, hyperammonemia can lead to neurological damage, coma, and even death. It requires immediate treatment of IV fluids and medications. In order to balance protein intake, Coulby was going to need a high calorie, low protein diet, in which all food and drink consumed would need to be weighed on a scale and logged each day. Protein and calorie requirements would be based on growth and blood tests. Coulby would require routine check-ups at Hopkins. In addition to all of this, he would also need two medications daily: Argenine and Sodium Phenylbuterate (Buphenyl). These would be mixed into a powdered formula and consumed that way. And it does not stop there. Because the body naturally draws from protein stores in the bones when fighting illness, Coulby could get an excess amount of protein if he were to become ill. The excess protein would cause, you guessed it, hyperammonemia. You must realize that hyperammonemia is extremely serious, and is time-sensitive in terms of getting treatment. It might only be a matter of hours before brain damage occurs.
This was scary stuff! No one could predict how well Coulby would respond to IV therapy, if he already had brain damage, and how much of his life he would be spending in the hospital. We were told to be "cautiously optimistic." Not too promising, so it seemed.
4.5 years later Coulby is a happy, healthy little boy who is full of life and full of spirit! He was later diagnosed as having partial Citrullinemia, because he in fact has some enzyme function. We have hit rough spots along the way, but he is doing far better than anyone anticipated, and than we could have dreamed he would that first night at Hopkins. Coulby has spent nights in the hospital with dangerously high ammonias, has battled illnesses, some of which landed him in the hospital, has maintained the balance of his metabolic needs despite being a picky eater from the start, and endured many, MANY blood draws and IVs. And he is still smiling. Still thriving. Still charming everyone he meets. Still growing and learning and living the life we hoped he would. He started pre-school at the start of the school year, which was a big step for us, being germophobic and all.
And this is our life. Anticipating hospitalizations, but not living for them. Fearing germs and illness, but not hiding from them. Living the ups and downs of Citrullinemia, but learning and growing from each one. We see the blessings in this life we have been given; this awesome boy we call our son. He teaches me something new every day.
*Keep following my story and learn more about Citrullinemia and our family. Check out the link under A Citrullinemia Life to learn more about Urea Cycle Disorders and what you can do to help!