Friday, May 3, 2013

Life with Cooper-Part 5: The First Year


For I know the plans I have for you," declares the Lord, "plans to prosper you and not to harm you, plans to give you hope and a future." Jeremiah 29:11


Doctors. Health Care Professionals in general, really. We put our faith in them. We look to them for all the answers, and we trust those answers when we get them. We forget that they are just humans, mere mortals who are capable of making a mistake or just plain failing to notice something. We want to believe that they know all things when the truth is, they don't. As a health professional myself, I believed whole heartedly that Cooper was a normal, healthy-albeit premature-baby when we brought him home from the hospital that first day. After all, Cooper had been under the care of the best doctors and nurses in East Tennessee. They had been over all 17 1/2 inches of his tiny body with a fine tooth comb during the 5 day period that he was their charge. Over and over, my mind would return to that train of thought: if there was something to see, they would have seen it. Cooper was fine. Nothing to worry about. Of course there were to be some bumps in the road. He was premature, after all. I would attempt to explain each and every one of the coming events that way, but the reality of the situation would present itself gradually-no matter how hard I tried not to see it.

Feeding was Cooper's first major issue. After I was no longer able to breast feed, Cooper was put on formula. Even before the switch I had noticed cramping and pain after feedings. He continued to have symptoms, so he was changed to lactose free formula. When no improvement was seen, he was changed to a third formula, which caused severe constipation. The next change caused even more pain and added projectile vomiting. With the fifth change came bloody stool, which threw me into a complete panic. My tiny little baby was sick all the time and was having difficulty gaining any weight. All I could do was stay the course, but I was beginning to realize this was not just simply a formula issue.

By the time he was 5 1/2 months old Cooper was on his sixth formula. This one caused rock hard stools which caused an impaction. My sweet boy only weighed 12 pounds after losing 7 ounces over a seven week period from all the vomiting, diarrhea, cramping, etc. At this point he was given the diagnosis of Failure to Thrive (FTT) and referred to a gastroenterologist (finally!).  He was also tested for Cystic Fibrosis via sweat chloride test, which was normal. The GI doctor changed his formula once again and started following his case closely.

Cooper was seen by a pediatric pulmonologist and prescribed respiratory medication for wheezing and other signs of reactive airway disease. His chest x-ray was clear and aspiration was suspected. Cooper was then started on Zantac and tested for food allergies. No allergies were found. The sweat chloride test was repeated to be absolutely sure he did not have Cystic Fibrosis. It was again normal. It was all very frustrating. I was incredibly relieved that he did not have CF but shocked that there were no allergies. Weeks and weeks of doctor visits, half a dozen formulas and a still sickly, weak baby and I was weary that we had yet to find the answer. I was anxious to take whatever action necessary to see Cooper eat without throwing everything up. I was concerned that he was not gaining weight and his physical development had remained below the 3rd percentile.

When symptoms persisted, A gastric emptying scan was ordered. Cooper received a new diagnosis: gastroparesis or delayed gastric emptying. This simply meant that it took an abnormally long time for Cooper's food to make its way through his GI tract. This explained some of the symptoms but not the frequent vomiting. Yet another medicine was prescribed and we were referred to a dietitian to help increase caloric intake to improve weight gain.

It was during the visit with the nutrition specialist that I was made aware that Cooper was microcephalic, meaning that his head was disproportionately small in relation to his body. I knew that he was in the less than 3 percentile in all categories: height, weight, and head circumference. I had not really given it a second thought. He was a preemie with serious feeding issues. I thought he had a cute little head, but apparently it was abnormally small, even under the current circumstances. Small head, small brain. I was a little taken aback. She tried her best to reassure me not to worry. Cooper was referred for a neurological consult. I was quite dumbfounded. How had we gone from feeding problems to a neurology appointment???

Because of his diagnosis of FTT, Cooper qualified for home services through Tennessee's Early Intervention System. They provided services in the home that included one on one visits with a TEIS specialist, OT, PT and Speech. At 7 months old, Cooper could not sit up on his own, crawl or do any of the other things most 7 month olds can do. He rarely smiled or made any facial expressions anymore, although he had at first. He was making no attempts at vocalization. I still believed it was because he was so debilitated from the feeding problems. I was hesitant to accept the services. I didn't want him to be seen as "special needs".  I believed if we could just figure out what was causing all the vomiting (he could barely keep anything down at this point) that he would get stronger and catch up on his own. What made me relent was the fact that Cooper would be in the care of  a co worker's wife. I had met her and really liked her. She assured me that the services could only benefit Cooper and could be stopped at any time if he no longer needed them. Right away, services were established and home visits were started. Even though everyone was super nice that came to our home, it was weird. I was really uncomfortable about it. I didn't think Cooper really needed those services. It seemed like we were almost being dishonest. Surely another child, one who was an actual special needs child with a irreversible diagnosis would benefit from the time and money being spent more than Cooper. Cooper was a normal, healthy baby. This was not permanent. He would be fine...

The day of Cooper's appointment with the neurologist finally arrived. An MRI had been ordered and completed. Cooper's brain, though small, was structurally normal. Cooper was almost 8 months old that day. He had seen several doctors, including a neonatologist and 2 pediatricians, over the course of his short little life.  Each time he was stripped to his diaper, weighed, measured and examined. So when this doctor began to go over Cooper inch by inch I was not concerned. As he was examining him, he began to ask me questions about what genetic testing had been done. I explained he had been tested for Cystic Fibrosis twice but that had came back normal. He then opened Cooper's little hand and pointed to a single straight line that crossed the entirety of his palm. "This is a simian crease. This is Down's." he said in a very thick German accent. I just stared at him. "This is Down's Syndrome. Your son has Down's Syndrome." I couldn't comprehend what he was saying to me. I had seen lots of children and adults with Down Syndrome. Cases that ranged from mild to severe. All of them were recognizable by their facial features. He then began to explain to me that there was a form of Down's called Mosaic Down Syndrome. In these cases, the chromosomal abnormality trisomy 21 was present without the physical characteristics of typical Down's Syndrome. He then proceeded to tell me that my son would be mentally retarded, never be able to attend regular school and  that he would likely have the mental capacity of a 10 to 12 year old when he was an adult. He said all this to me as if it were nothing. He sent me off to make an appointment with the Geneticist to confirm what he was sure was Cooper's diagnosis.

I was devastated. I had walked into that office that day with what I believed was a normal little boy with some very treatable GI issues. I was determined to hold on to the fact that he had been given a clean bill of health when he left the hospital that first day. As the neurologist explained to me about the simian crease, he also pointed out several other genetic abnormalities: low ears, creased ear helix (we called them his "Spock ears". We thought they were cute!), wide spaced eyes, epicanthal folds (a fold of skin over the corner of the eye-also common in Down's). On and on, he pointed these physical features out on my beautiful boy that were all signs of a genetic syndrome. Sure, people can have one or two and it mean nothing, But several together? He was completely sure. Cooper definitely had a genetic syndrome and he was positive it was Mosaic Down's.

I was angry. Angry at him for being so cold and cruel as he delivered life altering news. Angry at every single doctor and nurse who had examined my child and failed to mention even one of these things to me. How could this have been missed for EIGHT MONTHS! Angry that I would have to WAIT. First to get the blood drawn and then 4 weeks for the results. Once that was done, there was nothing to do but take my sweet baby home and try to keep living life without completely falling apart.

Genetic syndrome or not, we still had to get this GI thing under control. Our gastroenterologist had finally ordered an upper GI and pH probe. Scott and I took Cooper to Children's Hospital to be put under sedation for the second time in a month (the first time was for the MRI) to have the scope done and then have a pH probe placed-this required a tube to be run down his nose into his stomach to monitor the gastric reflux into his esophagus over a 23 hour period. It was a long, difficult process for all three of us, but the results showed that Cooper had severe gastric reflux due to the upper esophageal sphincter not functioning properly. It was allowing gastric juices to flow up into the esophagus every time his stomach contracted, leaving the bottom third of his esophagus raw and bloody. Left untreated, it could turn into esophageal cancer. We were promptly referred to a surgeon and one month later Cooper underwent a Nissen Fundoplication, where the upper part of the stomach is wrapped around the bottom part of the esophagus and sutured in place to prevent gastric reflux. It was done laproscopically, so he only had five small incisions. He stayed in the hospital a couple of days and then went home never to throw up again! It was a complete success! We were told it would take about 6 weeks for him to completely recover and then we should start to see him gradually get stronger and start to gain weight. We were thrilled.

Four weeks to the day after Cooper's blood was drawn to test for Down's,  I contacted the Genetic's office for the results. I had spent  hours researching Mosaic Down's. Cooper looked completely normal to me. He was too young and had been through too much with the GI stuff to adequately judge his cognitive function. I was trying to accept it, but it just didn't fit. When I finally got someone on the phone who could track down his testing, I was told that the test was negative. Cooper did not have Down's Syndrome. He would be brought back in for more genetic testing, but all would come back negative. The Geneticist would explain that there was no genetic panel that could be run to rule out all genetic syndromes. There was still a possibility that Cooper had a genetic syndrome. I didn't think so. In my mind I was still desperately clinging to my inner mantra: "He's fine. If there really was something wrong, they would have found it by now. He's going to be fine."

Over and over I would tell myself. And by the end of that year, I believed it. We celebrated Cooper's birthday with all our family and friends. It had been a long, hard twelve months. Cooper had recovered from his surgery, but still could not sit up on his own or walk, although he had begun to combat crawl. No attempt at speech yet either, but I wasn't really worried. They had told me it would take a couple of years for him to catch up with other babies, and that was without all the GI problems he had been through. He was the cutest little one year old I'd ever seen. The next year was going to be great, I just knew it...


Some favorite photos from that first year...

Brother love!
Big smile for his big brother!
 He loved to sleep with Cole even then!
 LOVE!LOVE!LOVE!


Had to include this one! First Halloween-2 months old! So darn cute!!



4 months old. Playing with one of his first Christmas presents with Daddy.



6 months old here. Daddy's little mini me!

One of my all time favorite pictures of my boys taken on our first vacation...

First Birthday!!!
Cake face!

After cake-change of clothes! Present time!
As you can see, he couldn't sit up on his own at all...

...but he was a happy boy. We thought by his next birthday he would be running and laughing and playing just like all the other kids. After everything we had been through that first year, we had no idea the most difficult days were still ahead.

1 comment:

  1. Oh Heather out first year was very different. We did not know that there was any problem besides the strabismus for the first year. I feel we were so lucky that Rodrigo's first year was "normal". I got to enjoy him without knowing what was to happen in the next year. He was my first baby and I had no clue there was any problem. It was only at that first year mark that we realized he doesn't understand what we say. He needed support to sit, and yup he had the commando style crawl. He was a happy baby and that's all that mattered. But the second year was a different story.

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