Tuesday, January 20, 2015

Joshua's Story

(I apologize for the redundancy. Earlier posts have presented very similar information, but this composition was put together recently for a publication. We are very pleased with how it turned out and would like to share with our friends and family to read once more.) 

In the fall of 2005, my husband and I were delighted to find out I was pregnant with our second child. Like everyone does, I had scheduled an appointment with the obstetrician at 20 weeks to discover whether we were having a boy or a girl. This is typically the most exciting prenatal doctor's visit of them all. Lying on the sonogram table, I could see on the technician's face that there was something wrong, terribly wrong. Her words, "You’re having a boy, but there's a problem." echoed over and over in my ears as she left the room to get the doctor. Excitement quickly faded into sheer terror. My husband and I were left alone in the room for what felt like an eternity. The doctor entered the room with an apologetic look on his face. "Your baby has gastroschisis, and I'm referring you to a specialist." Gastroschisis? I had never heard the word before. I thought my world had ended. Gastroschisis (gas-tro-skee-sis) is a rare birth defect in which some or all of the baby's intestines protrude through a hole in the abdominal wall. At that time, the experts reported that 1 in 5,000 babies born in the United States were diagnosed with this birth defect. We happened to be the lucky one. Leaving the doctor’s office, I remember calling my mom and hysterically trying to explain what was wrong. The rest of the day was a blur. The word "problem" kept circling in my head. Just what did all this mean? What was in store for me and my child? No one knows why it happens, there is no known cause or prevention for it. I knew I needed more information, after all, knowledge is power and at that point I was feeling extremely powerless. Unfortunately, as all newly diagnosed parents are told not to do, we jumped online and found statistics that only fueled my fears. The perinatologist I was referred to actually ended up referring me to get a second doctor because he did not feel comfortable caring for me and my unborn child. This ended up being a blessing in disguise because the doctors that began following me would be crucially instrumental in saving our son's life. Even though I knew I was not carrying a "normal" baby, my pregnancy progressed fairly smoothly. I was seeing a high-risk doctor twice a week and it became so routine that I was attending these appointments solo. Sonograms showed the small intestine that was left inside his body was becoming extremely dilated meaning the bowels were blocked off at some point. Blood flow was restricted and there was little to no peristalsis (muscle movement) in the bowel. The doctor wanted me to deliver early, so at week 33 two rounds of steroid shots were given to reduce the baby's chances of respiratory problems. We were planning for a 34 week delivery and an amniocentesis was scheduled for the following Monday. Friday afternoon, April 28, 2006 I was in for yet another "routine" appointment when once again during a sonogram the room got eerily quiet. The perinatologist explained to me that he was not happy with the baby's heart rate and wanted me to go to the hospital's maternal observation. He instructed a nurse to walk me over right away. When we arrive on the floor, a very stern old nurse scowled at me and asked why I was on my feet. A team of nurses quickly sat me in a wheelchair and whisked me off into a delivery room. My head was spinning. In no time nurses were bustling about asking me questions and preparing me for surgery. Before I knew it, I was lying in a bed with an IV started the whole time thinking, "Wait, you are all making a huge mistake. You've got the wrong person!" Finally, one of the nurses asked me if I was there by myself. When I replied yes, she handed me a phone to notify loved ones. It is a miracle I was able to dial anyone’s number. I was only able to reach my mother-in-law, my mom, and my preacher. I had never been so scared in my entire life. Only twenty minutes had passed from when I was getting my "routine" sonogram to that point. We were quickly leaving the delivery room, and I was wheeled into an operating room. I will never forget how cold and white it was. So sterile. Looking up at the ceiling while nurses counted utensils, I couldn't even cry. It was so unreal. I remember thinking, "I'm so alone, where is everyone?" No one came and panic was setting in. Almost as if I heard a voice, something told me, "Get it together, you're not alone." A peace settled over me that I cannot explain with words. I have never been closer to God than that very moment. The surgery itself was a blur. So much bustling about. At times I struggled to breathe. I remember the tugging and pulling and a heaviness on my chest. In no time at all, Joshua was born. It felt like an eternity before a nurse told me to turn my head to the right so that I could see him as they wheeled him out the door. Oh, our baby. He was wrapped in sterile gauze and was being rushed out of the room in an isolate. Just a glimpse, is all I caught. Joshua was born with nearly his entire small intestine on the outside of his body. That section of the bowel had died. His small bowel that remained in his abdomen (about 12 cm) was very dilated due to lack of adequate blood flow. As I was recovering from the emergency caesarean, the NICU team was preparing Joshua for surgery. His surgeon came to me just before they took him across the street to our local children's hospital. With the most solemn of looks on his face he told me, "This is bad, this is very bad." The herniated section of Joshua's intestine would need to be removed, and the part remaining (minus the oh so important ileocecal valve) was so grossly dilated that it was too large to connect to his large bowel. The surgeon was able to taper down the remaining small intestine in the first of three Serial Transverse Enteroplasty (STEP) procedures. On top of that, his bowel was extremely large and would have to shrink. It would have been like trying to connect tubing the size of a quarter to tubing the size of a pencil eraser. He was in for a long stay in the NICU and an even longer journey for survival. A portion of Joshua’s small bowel was brought out through a stoma (an opening) in his abdomen. His ostomy was in use until he was about one and a half months old. At that point it had shrunk in size and was ready for reanastomosis (reuniting of divided vessels.) Two months later he was suffering from violent episodes of vomiting and retching. An upper GI, small bowel follow-through with contrast was performed and showed a very dilated small intestine. Doctors decided to once again perform a STEP. The procedure successfully gained Joshua another 25 cm. His bowel was roughly 75 cm long and the bacterial overgrowth that is so common with these kind of gut issues, was now a little more manageable. After 168 days in the NICU, Joshua came home diagnosed with Short Bowel Syndrome, chronic diarrhea, malabsorption and failure to thrive. He was home on IV nutrition, g-tube feeds, and medications around the clock. Caring for my new baby meant becoming a nurse. It meant becoming an expert on my child, and so I did. He did wonderfully for a while. About three and a half months after leaving the NICU, vomiting was once again a very serious problem. So little was going in, but SO MUCH was coming out. Joshua was getting very dehydrated and had to be seen immediately. While in the hospital, tests were done to check for severe reflux. He had a ph probe inserted through his nose down his esophagus. Each time he vomited, retched, coughed, cried, pooped, moved...pretty much did anything, we were to enter the information into a device attached to the probe. The results were conclusive. Yes, Joshua did have severe reflux. So, at that time it was decided to do a fundoplication (a procedure where the upper part of the stomach is wrapped, or plicated, around the lower end of the esophagus.) At the same time, Joshua's surgeon repaired a minor hernia and did his third, and last, STEP. Joshua then had over 100 cm of small bowel. Unfortunately, the length did not necessarily cause the bowel to work better. Our underlying and persistent issue remained the same, malabsorption. The STEP procedures have helped, but time and constant encouragement of the bowel's activity seem to have made the most difference. There has not been any other major surgeries to date, and we pray it remains that way. I have asked about the possibility of a fourth STEP. Many of the experts we have seen feel like it would only be a temporary fix. I have to agree with them. God has created the body in such a way that it will adapt to high stress situations and injuries. His bowel seems to "know" it does not have adequate surface area to absorb enough nutrients to survive so it stretches creating a wide, dilated bowel. Unfortunately this bowel is sluggish and a breeding ground for bacteria which in turn causes lots of gas/bloating. This bacteria often finds its way into the bloodstream and can strike up a nice case of sepsis quite easily. The STEP is a major surgery and anytime the bowel is touched, it undergoes a state of paralysis. The thought of that possibly becoming a long term reality is not worth trying once more to gain more length just to most likely end up dilated. Through the years, we have attempted to treat Joshua's malabsorption of nutrients with medications. Some of those medications have tragically caused pancreatitis. Pancreatitis is a very painful condition of an irritated and inflamed pancreas. Two episodes of this condition proved to be major setbacks in Joshua's advancement. At the age of 5, we were concerned that he would not ever be able to grow and thrive without the supplements of medicinal nutrients. His electrolyte imbalance due to his chronic diarrhea was the hardest to control, especially in the warmer months. On top of that, he just was not growing. Doctors agreed with me that it was time to pursue growth hormone therapy. I remember having read somewhere that studies had shown growth hormones actually aided in electrolyte absorption, and I was anxious to see if this was a possibility for Joshua. We started hormones in May 2012, and to this date Joshua has not darkened the ER doors for dehydration. This is a miracle for him. As a bonus, he quadrupled his growth from the previous year. Today, my husband and I celebrate every moment; we take nothing for granted. The road we've traveled was so long and strenuous, but we've all pushed on. Joshua no longer depends on IV or tube fed nutrition. His biggest concern in life is to be just like other boys his age. He and his two brothers are competitive in every way. The strategic balance of proper nutrition, medications and parental instincts along with the aid of growth hormones has given him a chance. A chance to be more "normal,” a chance to survive, a chance to thrive. Joshua's journey continues as he lives every day to its fullest.

Thursday, August 1, 2013

Gastroschisis Awareness Day 2013

July 30th is our state recognized Gastroschisis Awareness Day

   One year has passed since my last post. This past weekend we joined many other families in raising awareness for the the birth defect that has changed our lives forever. The kids had a blast and it's always wonderful meeting others that are in your shoes or just stepping into them. 

   There hasn't been much to report, which in our world is a wonderful thing! Joshua's doing well. He's been on growth hormone therapy for over a year now and is steadily growing. The doctors would like to see a little more growth, but any is an improvement from the year before! Between his 5th and 6th birthdays he grew 1/2 inch. He quadrupled that amount this past year. 

   On top of the growth, he seems to be balancing his electrolytes on his own much better. We've had a few bumps in the road, but if recognized early enough and corrected with oral rehydration, we can stay ahead of the game. No ER visits for dehydration so far!!! This is SO BIG! Of course, Joshua still is not a fan of the nightly injections. (Neither am I to be honest!) Who wants to poke their child with a needle every night?

   But, even through the discomfort of these shots, Joshua remains good spirited and strong willed. He's determined and I am so very proud to be his Mama. As difficult as the job is at times, I am so blessed by him and the things he's taught me. The one thing in the world this little boy wants is to be like everyone else, to be like his brothers. That's not always possible, but we try very hard for it's achievement. He's had a summer full of family reunions, trips to the beach and warm days in the pool. Joshua wakes every morning ready to eat and take on the world, living his days to the fullest.

Friday, June 29, 2012

Gastroschisis Awareness Day

Just Around the Corner... With Gastroschisis Awareness Day a little over a month away, please take the time to watch our video. You may come away with it with a better understanding of this birth defect and hopefully a blessing of encouragement. If these kids have taught us anything, it's to keep a strong faith in God and an unstoppable determination. May we all have the GUTS that these kids have!

Saturday, June 16, 2012

Battling Summer with One Tube Behind His Back!

So far this summer Joshua has done remarkably well. I'm amazed at how his little body is copy through heat and humidity. In years past I've dreaded June. It never failed to bring with it dehydration and all expense paid stays at the local children's hospital! But, we've been to the beach, swam in the pool and played outside without any repercussions. THIS IS HUGE! I keep saying that, but I'm not sure just how many people "get it." THIS IS HUGE. August will make one whole year that Joshua has been off of tpn. If you'll remember he had a booger of a line infection that wouldn't clear and the docs had to pull the line. We experimented with him being off that support and sure enough, he did great! We've continued to supplement his electrolytes four times a day (which certainly does help tremendously) however, I'm wondering if the steroid shots we started Joshua on in May are playing any part in this? Whatever it is, I'm seeing a whole new boy and he won't be stopped! Watch out world! Praying that we will ride this wave through August!

Wednesday, February 1, 2012

Five Steps Forward.... and Only One Back!

That's the silver lining our GI doc gave us today.

Hey...I'll take it! For so long we've done the one step forward and two steps back dance and quite frankly, I just don't dance! Progress is slow, but progress none the least. To date Joshua has gone FIVE months without a central line! No TPN. No supplemental IV fluids. No line infections.

A few weeks ago he did test positive for C diff. The dreaded bug of all Short Gut kiddos.
He may fight off this bacteria for months or years. We're praying it clears quickly cause it's a booger for anyone, much less one with chronic diarrhea as it is.

On top of this, he's still showing evidence of very poor motility, bacterial overgrowth and malabsorption. What's new? BUT.....

GI is happy with his labs and overall health. Absolutely NO signs of dehydration! Woo Hoo! What a wonderful thing this is! Hydration has been the center of our world for almost 6 years. His body, even though technically it's not doing what it should be doing in the GI tract, has figured out a way to maintain it's electrolyte levels!!! Praise God!

We do supplement electrolytes through the g-button, but not nearly as much as it appears he loses. He's always been this tricky chemistry set. But little by little, things are balancing out.

Now, on to weight gain...
We'll be meeting with endocrinology first of March and I'm praying we'll start growth hormone therapy soon. It means a long series of daily shots, but this is our window of opportunity to do something about his size while we still can. Joshua has to undergo a few tests to show that the hormones will in fact benefit him. We'll know in a month or so.

All in all, a great report from clinic!

Wednesday, August 17, 2011

Where to begin?

It's been a while and there's lots to catch up on. I've been a better facebooker than blogger lately. It's a shame. I just always have more to say than time allows, so I think, "I'll get it caught up later..."

Well, since last entry we celebrated Gastroschisis Awareness Day. An amazing group called Avery's Angels spearheaded this observance day. We kicked it off by Justin and I giving blood. What a great feeling! I think we'll become regulars.

Then later picnic and balloon release. Justin took Joshua for some McD's afterward. What a great day we had. I can't wait for next year, I'm going to get my GUTS group more involved and get something hosted at the hospital.

Just a mere 2 days later, BAM. We were hit with a line infection, 2 bacteria and a yeast all at the same time. We had one sick little boy on our hands. High fever for days. The infection wouldn't clear and his central line was finally pulled. After 3 days of losing IVs we got a PICC line placed and were able to complete the 2 week antibiotic course in hospital. We had an upper GI small bowel follow-through performed and the doctors were very pleased. Joshua seemed to be doing well enough that we thought it'd be a good time to try to go without the line.

So now we're home, no central line. No backup safety net. Kinda scary, but very exciting! If Joshua can prove himself this is the beginning of a new life for us.

Stepping out on faith.

That's what we're doing.

Praying, please God keep Joshua hydrated! Please let this be his time. We've waited so patiently for the past 5 years. I so badly want him to step forward without stepping back.

Please God.

Tuesday, April 5, 2011

A Successful Day in the Heat

Recently our family set out for our first family outing in a long time. Thomas was in town and we couldn't pass up the chance for the boys to see him life-size in person. Armed with plenty of electrolytes we were off.

In the past, a whole afternoon out in the heat would be a recipe for disaster for Joshua. In no time at all his eyes would loose their brightness, sink in and develop dark circles below them. His cheeks would look hollow and his lips would dry out. He'd barely be able to talk, not ever taking a full breath while hardly opening or closing his mouth completely. You could see it a mile away.


For the longest time I had standing orders (and honestly, probably still do) to be able to give Joshua bolus IV fluids if I felt they were necessary. I had to on many occasions.

But this outing rewrote history for Joshua. He handled it like a champ. Never complained of being too hot, (the high was close to 90) never was extremely thirsty and ate a hot dog fast enough to put a grown man to shame. In fact he finished his brother's too.

Justin and I couldn't have been happier. It was so great for us all to be out together and not stop dead in our tracks for some sort of emergency. Don't get me wrong, I don't plan on pushing Joshua to the limits any more than that. But it's good to know on occasion his body can handle a little more on it's own now.

Thank you Thomas. What a day!