Cystic Fibrosis (CF) does not define who we are, but it is an important part of our lives. By sharing our story, I hope to raise awareness and connect with others whose lives have been touched by CF.

Tuesday, August 4, 2009

Alex and His Diagnosis

When I was a little girl, I remember thinking my life was good, too good, in fact. Nothing terrible happened to me. I enjoyed a fun childhood, and with the exception of some typical teen-aged confidence issues, I cruised into young adulthood carefree and happy. I always felt that God was preparing me for what was to come. And as crazy as this sounds, even as a 10 year old, I knew my trials in life would come later.


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When the nurses placed my newborn son into my arms on July 26, 2003, I cried blissful tears of joy. He was soft and smooth and sweet, and I recognized his cute little nose from the sonogram pictures. Immediately, I thought, "Who are you, what is your name?" I'm a last-minute person, and even though my husband, Steve, and I had narrowed down our name choices, I was concerned about what we should call him. Within a few minutes, Steve and I decided to name him Alexander Michael, Alex for short. It was the perfect name for our perfect little boy.

Two days later, we took Alex home to our apartment and began learning how to be a family of three. I was breast-feeding and was constantly concerned about whether or not Alex was getting enough to eat. Alex was also jaundiced, and at the end of the first week, he spent 3 days doing at-home therapy with a bili light. The jaundice cleared, and we continued caring for our little boy...feeding, changing diapers, bathing, burping, feeding again, changing more diapers...and loving our boy more every minute.

At birth, Alex weighed 6lbs 1oz. When we brought him home from the hospital, he had lost some weight, as breast-fed babies often do. By 2 weeks, 5 days, he had made it back up to his birth weight, and sometime between this check-up and his 2 month check-up, I became increasingly worried about the rate of Alex's weight gain. I would weigh myself on our scale at home and then weigh myself with Alex and subtract the difference. Alex was gaining very slowly. It seemed every time I went out, people asked how much he weighed and seemed surprised at the answer I gave. I began to be self-conscious about this and started avoiding public places. I knew Alex wasn't gaining weight quickly, and I didn't know what to do about it. I shared my concerns with the doctor, and he assured me that the signs I was noticing (slow weight gain, odd consistency & color of stools) was all in the range of normal. Alex was eating like a champ, and I continued to feed him whenever he was hungry for as long as he wanted to nurse, which was about every 2-3 hours for 45 minutes.

At Alex's 2 month check-up, I was delighted when the nurse weighed him and recorded the result: 10 lbs! I felt relieved. (Looking back, there is some discrepancy over the accuracy of this, as the nurse weighed him twice and wrote down the greater weight.)

As his 4 month check-up approached, I grew more and more concerned. My weight checks at home showed Alex weighing 8 lbs, and I thought, "this can't be right." But it was. Alex weighed 8 lbs 12 oz at his 4 month check-up. The doctor was finally concerned. He asked me questions about our feedings. I explained how often and how long Alex nursed and told him that when I pumped, I generally produced about 4 oz of breast milk. He was surprised and thought that seemed an adequate quantity but instructed me to start supplementing with formula anyway.

I called up my mom. She's an RN, and I always turn to her for medical advice. She had been concerned about Alex's slow weight gain and confided that Cystic Fibrosis (CF)* had been in the back of her mind. CF had been lurking in the back of my mind too. I have a first cousin with CF, which I knew increased my chances of being a carrier of the disorder. My husband, however, has no family history of CF. My mom advised me to call my doctor, explain the family connection, and ask him to order the test for CF. I did. The doctor brushed my concerns aside, stating that a first cousin wasn't a close enough connection. At this point, it was clear to me that he knew very little about Cystic Fibrosis.

I called my mom again. She said, "Andi, you have to call him up and push for this test." I did, and he finally agreed, stating he really didn't think it was necessary.

On December 4, 2003, my husband, mom, and I took Alex to have a sweat test** at a CF Care Center 70 miles from our home. The lab technician rubbed an enzyme on Alex's forearm to stimulate his sweat glands. Alex's arm began sweating in about a 1 inch by 1 inch circular area of his skin. The lab technician gathered the sweat in a tiny coil of tubing, which was maybe a centimeter in diameter.

Later that afternoon, we received a call from Alex's pediatrician stating that the sweat test showed a high quantity of salt, which was a positive diagnosis for Cystic Fibrosis. He was apologetic and explained that Alex's symptoms were nothing like he'd seen when he cared for CF kids while in residency in the '80's. As frustrating as the process had been, I didn't blame him. No one, not even a doctor, can know everything.

When I got off the phone, I told my husband. I'm not exactly sure what I said, but we hugged each other tightly and cried.

Not long after this, a nurse from the CF Care Center called to set up an appointment for Alex's first visit and to discuss his diagnosis. This was my first experience with the CF clinic we now attend, and it could not have been more positive. The nurse was wonderful. She explained everything so thoroughly, which was so comforting.

Six days later, Alex began taking pancreatic enzyme replacements or "enzymes" to help him digest food and absorb the nutrients from it. Because CF causes the body to produce a thick, sticky mucus, the ducts of Alex's pancreas are blocked, and the enzymes that break down food cannot get through. This is why Alex was not gaining weight. After two days of taking enzymes, Alex slept through the night for the first time. He was 4 1/2 months old. I was so relieved that my little boy finally felt satisfied and comfortable.

I realize now that Alex's diagnosis was a critical turning point in our lives. We were saddened by it--this isn't the life we wanted for our little boy. But we also felt a great sense of relief. We finally knew why our boy wasn't growing, and we could do something about it. I began to read and learn as much as I could about CF, I asked questions, and I followed the instructions our CF Care Team gave us. I still do. In fact, I'm a bit obsessive about it. When a doctor tells you that every treatment you do adds a day to your child's life, you begin to view life differently. You dig down deep, and you find strength you didn't know you had.

Is this difficult? Yes.

Is it painful? Yes.

Is it worth it? Yes.

God called me to be a wife. He called me to be a mother, and more specifically, He called me to be a mother to a child with CF. It took me a while to realize that these vocations are all gifts. I have been prepared to walk this path. With His help, I can succeed.


* What is Cystic Fibrosis?

"Cystic fibrosis (CF) is a life-shortening, inherited disorder that affects the way in which salt and water move into and out of the body's cells. The most important effects of this problem are in the lungs and the digestive system (especially the pancreas), where thick mucus blocks the small tubes and ducts. The lung problem can lead to progressive blockage, infection, and lung damage, and even death if there is too much damage, while the pancreatic blockage causes poor digestion and poor absorption of food, leading to poor growth and under-nutrition. The sweat glands are also affected, in that they make a much saltier sweat than normal...Most parts of the body that make mucus are also affected, including the reproductive tract in men and women with CF." From Cystic Fibrosis: A Guide for Patient and Family, Third Edition, David M. Orenstein

** The sweat test determines the amount of salt in the sweat and is the defining test for Cystic Fibrosis.

5 comments:

  1. Andi, You are an amazing and strong young woman and I am so proud of you! God surely knew what He was doing when He gave you this gift...and He will always be right there with you. The CALM moms are ready to be His hands in this world when you need one "with skin"--we are blessed to share with you on this journey!
    Hugs, Lisa

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  2. Andi, You are a WONDERFUL mother and have an adorable,loving little boy in Alex. It was really great to spend the weekend with you, Alex, and Evan.

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  3. What a touhing post. Andi I do not know you that well, but what I do know...you are such a sweet tender loving person. Alex is so blessed to have you as his mother! Blessings to your family!

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  4. Glad to see you were finally ready to share your story! You are such a sweet girl (sorry, I will always be older than you, so girl it is! be thankful, I call myself a girl too!)! I am glad that you shared! I can only imagine some of the trials of Alex's condition, but you are two goodhearted, caring people and you can and will make the best of all that comes your way!

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