Our Journey Begins
The Full Story
Warning: It's impossible to discuss cystic fibrosis without talking about poop, blood, and mucous! That's our reality!
Our journey began after our sixth child, Elena, a beautiful little princess with dark curly hair and big, bright eyes, was born. I had an uneventful delivery, and she was absolutely perfect. I remember the midwife commenting that her umbilical cord was quite "sticky," which she thought was rather unusual. Little did I know that it was our first clue that all was not as perfect as we thought.
Elena initially began to smile responsively at about the age of five weeks, just like most babies. That soon stopped, however. She became fussier, and stopped hitting all the developmental milestones. She nursed constantly, at least every hour. I knew she was getting plenty of milk, because she was gaining weight, and had plenty of wet and poopy diapers. I did notice that her poop was bright green, like grass, and there were large amounts of it after every single time she nursed. None of her siblings before her had bowel movements like that.
At her two month check up, I mentioned my concerns to the pediatrician. Her response to me was that the poop was normal for breastfed babies, and that it wasn't related to her not smiling any more. She asked if I had tried letting her cry, rather than feed her so frequently. I told her that I had always nursed my babies on demand, as recommended. I did not believe in letting an infant "cry it out." She told me that I was overfeeding her, and that as long as I did that, she would continue to have frequent bowel movements. She wasn't too concerned about her development yet, since she was only two months old, but stated that we would keep an eye on it.
At her four month visit, the doctor was still not concerned, even though my daughter had continued to not meet developmental
milestones. She cried constantly if she wasn't being held, nursed even more frequently, and was still having large amounts of
bright green poop many times per day. She also would not look at me, which I thought was rather strange, but the pediatrician
wasn't too concerned about it. She instructed me to begin solid foods, and to come back again at six months. She felt that
we could begin to address the developmental concerns at that time, if she still hadn't made progress.
I never gave my babies solid food at that age, and I wasn't 100 percent convinced that the doctor was right about anything. I felt she wasn't hearing my concerns, but we were a military family, and the Naval hospital was our only option unless we were willing to pay a lot of money out of pocket. I decided I would travel to the Coast Guard hospital for her six month appointment, about thirty minutes away, rather than return to that doctor.
Shortly before the six month visit with the new doctor, she began to develop a "diaper" rash. Nothing my husband and I tried helped it go away. Since we were going to the new clinic in just a few days, I just waited to have her seen then. The rash spread from the diaper area, and continued to spread to her belly. Appointment day finally arrived, and I hoped the new doctor would be more interested in figuring out what was wrong.
When we arrived at the clinic, the new pediatrician was very concerned about her developmental milestones, and wondered why nothing had been done. She also wasn't too concerned about the massive amounts of grass green poop, but felt that perhaps there was an allergy or something. She advised me not to feed her any solids yet, and to try cutting out dairy from my diet. She also prescribed something for the rash, which she felt was some type of allergy, and ordered lab work.
We went back and forth to this clinic several times over the next two months. The rash continued to spread up her abdomen to her face and arms, and down to her legs. Her face was hugely swollen. The pediatrician referred us to pediatric dermatologists at Yale Children's Hospital, in New Haven. Our pediatrician was very concerned, because by this point, our daughter kept herself in the fetal position all the time, and her hands, feet, nose, and mouth were always blue. Her hair was turning white, and she looked very ill. Her blood work showed that her protein levels were extremely low, but nobody except the pediatrician was concerned about that. The dermatologist speculated that she must have some sort of rare disease that caused terrible skin issues, as well as mental retardation. The prognosis was very poor. He wasn't sure, but that's what he was focused on.
One night in particular, she began to run a fever. The rash was so bad it looked like she had been burned in a fire. It was oozing and inflamed. We took her to the emergency room at the Naval Hospital, and they took us in immediately. The ER doctor was very concerned, so he called the pediatrician (which was our first pediatrician). She looked in her ears and said she had a double ear infection, and was not concerned about anything else. In fact, she was rather annoyed that she had to come to the hospital at such a late hour for an ear infection, and let the ER doctor know that. I asked her about the fetal position, rash, and gray hair. She told me that I was just seeing things that were there because I was just worried, and assured my husband and I that once her rash went away, she would be just fine. The ER doctor privately told us that he knew something was seriously wrong, and that we needed to keep trying to find answers.
The next day, we went to the new pediatrician. She had us take her to the ER at Yale Children's Hospital, with the hopes that they would be able to find out what was wrong. The dermatologists that had been following her came to see her in the ER, and determined that she did not need to be admitted just for testing, so we went home. They instructed us to come in the next day for more blood work. They were also going to refer her to a pediatric ENT doctor, due to her face being so swollen. The ENT looked at us and said, "I have no clue why her face is so swollen." He also commented that her whole body looked very swollen, but it was out of his scope, as an ENT. Another dead end...
The dermatologists asked us to bring our daughter, who was beginning to resemble a monster in appearance, to a special clinic day they were having for interns. A pediatric dermatologist from NYU was going to be there teaching the students, and they felt that Elena's case might be solved by him. During the examination he performed, with about twelve students observing, she pooped everywhere. The doctor asked me a few questions, but had no answers. They all examined her rash and deliberated about what kind of deficiencies could have caused it. After that clinic day, we still did not know what was wrong with our daughter. However, the dermatologist that had been treating her saw the green poop, and told me he now understood what I meant about "grass green," and was concerned enough to go ahead and refer her to a gastroenterologist, to see what they might determine.
That appointment was about a week later. Finally, the day arrived. We were so worried about our daughter, because she had become very lethargic by this point, and we felt completely helpless. The GI specialist took one look at her blood work, and before even examining her, told us that our daughter was very, very sick, and needed to be admitted. He examined her, and was the first to volunteer that she might have pancreatic insufficiency. He told us they would do a special test where they collected several bowel movements, and then test it for high amounts of fat.
After she was admitted, we were first seen by the on call GI specialist. She was absolutely wonderful, and even cried a little when she heard our long ordeal. She assured us that they would find answers, and that our little girl would be okay. It's difficult to describe, but somehow, we were so relieved that she was finally admitted, and that someone had finally listened to our concerns.
As providence would have it, that first night in the hospital would have been her last night alive, had she not been admitted. She started bleeding from the gut. All I can say is that it was a lot of blood. She was vomiting and pooping so much blood. The nurse came when I called her, and her face immediately went grim. They took her from my arms to a treatment room. I wasn't allowed to stay with her. They started an IV and gave her fluids. Eventually, they stabilized her and brought her back to the room the next morning. She ended up needing two blood transfusions. I remember the nurse telling me that it was amazing she was admitted that day. She noticed how Elena wouldn't look anyone in the face, and commented that that was usually a dead giveaway that there was something seriously wrong with an infant. Why had no one else listened when I mentioned that?
Later that day, they placed a central IV line in her chest, and gave her something called TPN, a nutrition IV cocktail. TPN stands for "Total Parental Nutrition." The amazing thing was that after only twenty-four hours of that, she relaxed her arms and legs, and the blue color in her hands, feet, and face began to return to normal color again. They also did an endoscopy and colonoscopy to find out where what caused all the bleeding, which revealed that the insides of her gut were in just as bad shape as her skin. They told us that she was suffering from severe malnutrition, and that it could cause all of the symptoms she was having. They were doing a quantitative fecal fat test (QFFT), where they collected her bowel movements for three days, then determined the fat content. This would help them determine if there was some kind of pancreatic insufficiency. The GI specialist was pretty confident that it would be positive, due to what her bloodwork showed.
During her stay in the hospital, she had a myriad of blood work and tests. One was an ultrasound that indicated her liver was grossly enlarged, another complication of severe malnutrition. The results of the QFFT ended up showing that she did have pancreatic insufficiency, and the GI specialist talked to us about various conditions that could caused that, one of those being Cystic Fibrosis. I remember thinking that CF was a lung disease, why would it cause severe malnutrition. The doctor felt very strongly, that CF was the most likely cause, but that we would not be able to test her until the rash was gone. This was due to the fact that the rash could interfere with the PH of her sweat, and one of the ways they test for CF is to do a sweat test to see if there is an elevated amount of chloride in the sweat, which is considered a positive result.
After just a little over two weeks in the hospital, my daughter began to look me in the eyes and smile at me again. I can't tell you the joy I felt over this small
milestone being met. In my heart, it told me that she was going to be okay, even though we didn't have a formal diagnosis yet. The day had come that she was
well enough to be discharged. They decided to take a scraping of tissue from her cheek, and order a genetic test, in order to determine whether she had CF, since they
couldn't yet do a sweat test. We would find out the results in another two weeks. We left the hospital that day without a diagnosis, but hopeful that the doctors
were on the right track.
Before we left, they sent one of the pediatric pulmonologists to see us and talk to us about Cystic Fibrosis. They gave us a quick overview of living with the disease, as well as a prescription for pancreatic enzymes. Since she was only nine months old, we would have to break open the capsules and mix the little beads contained inside with applesauce and feed them to her before she ate. Little did we know then that taking enzymes would be a very important and permanent part of her care.
Two weeks later, the GI specialist that had followed her care in the hospital called us to let us know she had the results. She wanted us to come in the next day so she could give us the results in person, but I asked her to please not make us wait another moment. She went ahead and told me on the phone. After a long pause, she asked if I was okay. I responded that I was sad, but also relieved to finally have a diagnosis. Somehow, just knowing what was wrong brought so much relief after such a long and scary ordeal.
We were scheduled for an appointment at the CF clinic at Yale Children's Hospital for the following week. At this visit they gave us a lot of literature to read, filled us with information, and prescribed new medications. Our daughter not only needed the pancreatic enzymes to help her digest her food, but she also needed special vitamins called ADEKs, which were the fat soluble vitamins A, D, E, and K in water miscible form so she could absorb them. Her rash had been caused by a combination of deficiencies, including these vitamins, and part of her treatment was to get her nutrition status back to as normal as possible. Her malnutrition was so severe, she had Kwashikors, which is basically what you see in starving people of third world countries. It consists of muscle wasting, which became evident as her body got rid of all the edema as her protein levels increased. She went from weighing eighteen pounds at the time of her admission, to a mere twelve pounds once the fluid was gone! She couldn't do anything, except smile, at that point, but it was the most beautiful smile!
They also taught us how to do chest physiotherapy (CPT), which consisted of "clapping" on various areas of her back, sides, chest, and shoulders, with a cupped hand, to help loosen mucous so that she could cough it out. At that point, she did not have any lung issues, but this was also an important and permanent part of her treatment, to help preserve her lung health as the disease advanced.
Thus began our CF journey. Today, Elena is eighteen years old. She is a beautiful young lady, with wavy brown hair, big brown eyes, and a big future ahead. For the most part, she has been pretty healthy. She's had a handful of hospitalizations for IV antibiotics and extra CPT to help her get rid of lung infections. She has some lung damage and has to take lots of medicine, but apart from that, she lives a pretty normal life. Currently, we are waiting for her "Make a Wish" dream from the Make a Wish foundation, which will be an exciting adventure to add to our journey!