Saturday, January 31, 2009

Prayers for Corrigan

Corrigan needs your prayers. He is currently hospitalized at JH due to a metabolic episode that presented itself yesterday. Mindy spent much of her day at her local ER as they poked and prodded at Corrigan in order to test ammonia levels. Due to an elevated ammonia on the rise, he was transported via ambulance to Baltimore. There is no saying how long he will be hospitalized. These are the sad realities of this disorder.

Please keep Corrigan, as well as Mindy, Mark and Connor, in your thoughts and prayers. Pray for healing and a short hospital stay. The hospital experience is less than glamorous, and is emotionally and physically exhausting for baby and parents.

Such a sweet little boy, who has been through so much in his short life, Corrigan is one of the brave children living life with a UCD. Every time he goes into the hospital, I cannot help but feel the anguish I feel every time Coulby is hospitalized. And these kids are so brave! I know Corrigan will come out of the whole experience still smiling and making others smile!

I am thinking about you, little angel, and cannot wait until you are back in the comforts of your own home. Mindy, my dear friend, I am praying for you and yours, and you know I am available for whatever you need! God bless you all!

Wednesday, January 28, 2009

Sweet Caroline

My first pregnancy was one I would not mind was the aftermath that I would never want to experience again. My second pregnancy was a little rockier, but immediately following was a dream! I think settling in to a family of four was made far easier by our experiences after having Coulby. Caroline has been a true blessing, and just as much a miracle as her big brother.

We had a 1 in 4 chance of having another baby born with Citrullinemia. We knew that, and yet we still wanted another baby. I guess people would ask why we even took the chance, and my simple answer is that God had a plan for us. I knew the luxury of not having to worry about much during my pregnancy with Coulby, and I missed that when I was pregnant with Caroline. That feeling of carefree happiness in which I believed nothing bad could touch me.

Nurses at Hopkins, the same nurses who had cared for Coulby during hospitalizations, took blood samples from me and my husband, and these were shipped off to a genetics lab. The lab sequenced our DNA, as well as Coulby's, so the baby's DNA could be compared to ours. This would determine if our baby would be born with the same urea cycle disorder as Coulby.

I had an appointment at Hopkins, my first time going for myself instead of Coulby, in order to obtain a DNA sample from the baby. I had to undergo a procedure called Chorionic Villus Sampling (CVS), in which a sample of DNA is drawn from the placenta. It does involve risk, primarily of miscarriage, which was scary, aside from the whole experience already being terrifying! But I made it through the procedure, at 11 weeks of pregnancy, and both the baby and I were okay.

The next week was excruciating. Waiting for the results of the testing, jumping out of my skin at every phone call. My heart would pound every time I said "hello." Since we had also opted to have the baby's DNA tested for chromosomal abnormalities, we were not only waiting for CVS test results, but those as well.

The first phone call revealed that the baby had no chromosomal abnormalities, and that we would be having a baby girl. The former was excellent news, and the latter terrified my husband! I looked forward to having a boy and a girl! The phone rang again later that same day. It was a Friday, at the end of the "normal" work day. The voice on the other end of the phone told me that she did not want me to have to wait through the weekend to hear the wonderful news that our baby girl would NOT be born with Citrullinemia!!!! I could have screamed it to the world!

Caroline Alyssa was born in 4 hours (I almost did not make it to the hospital!), and weighed 7 lbs. 1.75 oz. She was the most beautiful little girl I had ever laid eyes on! Our little miracle. Our second miracle. Bringing Caroline home from the hospital proved to be a completely new experience for us; the one I grieved after Coulby was diagnosed.

Coulby adjusted to being a big brother, and we tackled the challenges of having to meet Coulby's needs as well as another baby's. It went surprisingly smoothly. We made it through Caroline's whole first year and then some before Coulby was hospitalized for the first time since she was born. She was a little confused by the whole experience, having one parent at home while the other stayed at the hospital with Coulby. It was different for us, too, because we were used to both being right by Coulby's side during hospitalizations. Caroline obviously missed her big brother, too.

And so it has gone. When Coulby has a routine appointment at Hopkins, we try to arrange for Caroline to stay with her grandfather so we can be with Coulby. If he ends up in crisis, one of us rushes him to the hospital while the other one stays at home with Caroline awaiting updates. Then we switch as we can. It is not always easy on Caroline. She often seems to take a back seat when we have to focus much of our attention on making sure Coulby meets his daily dietary expectations and gets the medications he needs. We work hard to find the balance. Both of our children deserve all that we can give them, and with one of them living with Citrullinemia, this has required a lot of work. Work that we are willing to put forth; that we continue to improve upon as time goes by.

I have posted pictures of Caroline, our little cutie! She is a happy little girl, full of personality, and is just as much of a part of our Citrullinemia story as Coulby.

Tuesday, January 27, 2009

A 1-month-old Coulby

"Trust in the Lord with all your heart, lean not onto your own understanding but in all your ways acknowledge Him and He will direct your path."
~Proverb 3:5-7

*This verse helped me through some dark times. I hope it might help others, too! Sorry about the image is an old photo that I scanned in to the computer!

Sunday, January 25, 2009

Coulby and Corrigan

The Citru-C's! We have made some wonderful friends because of these two angels. God sent them to us for a reason, one of them being to bring our families together.

Saturday, January 24, 2009

The Citru-C's

There have been many days that have challenged my faith, my spirit, my determination, and my patience. That first year of living with Citrullinemia was as much a learning experience as it was a personal journey. I almost grieved the loss of having a "normal" experience upon bringing my newborn home. My first born. My beautiful baby boy. And as difficult as Coulby's diagnosis was for me, it was even harder for him. Becoming a human pin cushion. Having to drink so many ounces of formula each and every day, sometimes having it pushed on him when his little belly was full. And the meds! My husband and I have tasted them and...well, let me say that my eyes watered and I nearly lost my lunch!

We began calling the nurses by name because Coulby was in and out of the hospital for various reasons (illness, dietary and medication adjustments). They were always happy to see him, and we were never too happy to see them. Not because we did not like them, but because Hopkins became synonymous with blood draws and hyperammonemia. Every time Coulby was hospitalized, it was not only scary, but emotionally and physically exhausting. I would look out of the window, permanently sealed shut, and watch the people walk the streets of Baltimore going about their daily morning, afternoon and evening routines, oblivious to the world on the other side of the window. I was helpless, often angry, and depressed. I never knew what each day would bring: Would Coulby have a good appetite today? Will today be the day he needs to be hospitalized? Should I risk exposure to public germs just to preserve my sanity?

Although I cannot pinpoint the exact hour on the exact day, I know that something hit me that seemed to take some of the weight off of my shoulders and help me to breath again: My son is a fighter. A survivor. And I am surviving. Step by step. Day by day. And now, year by year.

To say that this journey never challenges me anymore would be a lie. But I have learned to live with it, and to seek the guidance from God that I need to take care of Coulby. I only wish that there had been someone out there, someone who knew exactly what I was going through and had been there too; who could have held my hand through that first year. Just to guide me. Reassure me. Educate me. And provide some hope when I thought all was lost.

Now I am getting the chance to be that person that I always longed for. In May 2008, Coulby's nutritionist told me that there was another baby boy born in the state of Maryland and diagnosed with partial Citrullinemia. Really??? She asked if I would be willing to meet them some day in the future, when everyone was ready. I said yes. What else would I have said? The opportunity came sooner than I expected.

Coulby was scheduled for a routine appointment at Hopkins. It was the same day that the above referenced baby was to be discharged. Almost like a meeting of fate. God knowing it was something I needed just as much as the baby's family needed.

Corrigan. I snuck a peek at him as we walked into the all-too-familiar hospital room. Hooked up to an IV, cords coming from every which way, almost like tentacles, I saw my son in Corrigan. His parents and big brother stood to meet us. Mindy, Mark and Connor. And I smiled and said "hello," but what I felt like doing was crying. Because I saw myself standing in their spot just four years prior. Because I remembered the feelings of uncertainty, fear, and pure despair. Geez, what would they think if I just broke down and started crying? I would terrify them! So I sucked it up and we got to talking. The conversation came easily. General "getting-to-know-you" talk, and of course, Citrullinemia talk. Questions. Answers. I really wanted to help this family, who so reminded me of my own. We exchanged information and said goodbye, vowing to be in touch. This was a great opportunity for me to be able to share some of my Citrullinemia experiences, and hopefully prevent some of the heartache and despair I had felt when I thought there was no one to talk to.

In the months since, Mindy and I have found common ground because our sons share the same disorder, and because we seem to be kindred spirits. We have common interests, and often seem to live parallel lives. She has been a friend outside of our Citrullinemia lives. The friend that I have needed, even if I did not know it.

You know how people say, "Things happen for a reason," or "God has a plan for everyone?" They are right. Even when it seems like the world is closing in on you. Keep the faith!

Friday, January 23, 2009

Balancing Act

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!