VACTERL Association

VACTERL Association: The Beginning

A few days ago, Theo and I were chatting about his health and body and he asked me, "Mommy, are there any other kids like me or am I the only one?" I answered that of course there are other kids out there with similar issues but unfortunately people don't write or talk about it very much, so they are kind of hard to connect with. So, with his permission, I will tell our story with the hope that somewhere out there another mom, dad, or child living with VACTERL association can benefit from what we have learned over the years and most importantly to feel like they are not alone.

at one of my many fetal assessment ultrasounds

When I was six months pregnant with Theo, the doctor noticed that his kidneys and ureters were abnormally large. The diagnosis was hydroureter and hydronephrosis and I was told that it could mean absolutely nothing in the long run. Truthfully, most babies that have this diagnosis in utero are born with no health problems whatsoever. Strangely enough, I was pretty calm about this during the pregnancy and always expected that things were going to work out just fine. I had a few fetal assessment ultrasounds to keep track of his kidneys and make sure my amniotic fluid levels were okay and everything looked normal. 

Baby Theo just minutes after birth

Fast forward to January 2nd, 2008 when we welcomed our baby boy into the world. I cuddled and held him for a few minutes before he was whisked off to the NICU to get some urine samples and do an ultrasound of his kidneys. I was so exhausted that I fell asleep within minutes of him being gone. Some time later I was woken up by a doctor leaning over my bed telling me that they had found some serious medical issues with our baby. His anus was fully closed and his kidneys were not functioning well. They were pumping his stomach and running some tests, but most likely he would need surgery shortly. I was groggy from sleep and a 22 hour labor, it was 3 am, and not one of the dozens of ultrasounds I had during my pregnancy showed any of this. No doctor had ever suggested that this could even be linked to the hydronephrosis they saw while I was pregnant. I guess I was in denial because my response was to just nod at the doctor and go back to sleep. It had felt like a dream, but when I woke up and saw that my baby was not in a bassinet in the room with me I knew it wasn’t just a nightmare.

Oh, NICU. I will never miss you. 

Through testing they found that he had high imperforate anus, a missing rib, a malformed pinkie finger, and that his right kidney and upper left kidney had been so damaged by hydronephrosis that they were non-functional. The pediatrician I was assigned though the hospital stopped by and tried to reassure me that things could be much, much worse and that I was lucky that he had a healthy heart. He was right of course, but in retrospect, I wish that he could have tried to explain to me how it came about or the name of his syndrome. Ten hours after his birth, I was asked to sign a surgical release form so that they could create a colostomy. I was completely numb as I watched my baby being wheeled away and knowing that soon they would be cutting him open and prodding around in his tiny abdomen.

Theo's bed

Those weeks in the NICU were the darkest times I have experienced. I was lost. I had never heard of any of the malformations my son had and felt like I was the only mother who had ever experienced this. I felt like even though I thought I did everything right, I must have done something terribly wrong for my baby to have these birth defects. I spent hours in my room crying as quietly as I could so that the nurses wouldn't notice. One of them came to ask if I was suffering from postpartum depression and I think I was being honest when I answered no. This wasn't postpartum depression. This was the deep, bitter ache of loss, grief, pain, and fear for his future and nothing they could do would make my reality go away.

I spent the first few days after his birth in a daze. I wasn't allowed to feed him, because they didn't want anything to pass through his intestines until they knew the surgery was successful, and I wasn't allowed to touch him or hold him for fear of hurting him. I had absolutely no idea what to tell the people who were calling or dropping by with their well wishes. I was visited by numerous doctors, geneticists, and specialists, all asking countless questions about my lifestyle and family and nothing pointed to any sort of real answer or explanation. If I had just had a name or any other information available to me it wouldn't have been nearly so bad but there was nothing, not even a lowly pamphlet, that explained why my son was born this way.

After my initial moments of shock and denial I did what every mother does. You get in there and take care of your baby. You give them comfort when they are in pain, you feed them, and keep them warm and cozy. You make sure they are loved unconditionally for everything they are. I learned how to change a colostomy bag better than any ostomy nurse could, take his vitals every two hours, and breastfeed him despite the tangle of wires, IV and catheter. Two weeks later we were ready to go home and try this on our own. 

Once I was back home I started to do some research on his condition and began to suspect that he had VACTERL association. However, I was not quite convinced because surely the doctors or nurses would have mentioned it to me? At Theo's one month check up I asked his pediatrician if he thought Theo might have VACTERL association and he said, "of course, but really how does a name change anything?" It does. I don't know why but I suddenly didn't feel lost and afraid anymore.

Going home

I just want to underscore the need for more awareness of anorectal malformations and VACTERL association. No parent or child should have to go through the fear and confusion that I went through, especially not with how well connected we are and how readily available information is today. I encourage you, if you or your child has experience with this, contact me. Or better yet, find a way to spread awareness so that others know they are not alone in this.

VACTERL Association: The First Years

One of his first baths at home. The anchor peg
is still holding the loop of colon in place.

In the first 6 weeks of Theo's life we had a lot of issues with his colostomy bag. We were given small pediatric bags (pouchkins 2 piece and 1 piece) but found that the seal against his skin would separate and start leaking within a few hours of changing it. This caused a kind of diaper rash around his stoma which quickly turned raw when the skin integrity broke down. To make matters worse, his skin reacted with the tape and wafer and became rashy within a few days. I was so frustrated with the colostomy system and it seemed like nothing I tried made the bags work properly or gave his skin a chance to heal.

Finally after weeks of worry, hopelessness, and brainstorming with the ostomy nurses, we tried out an adult two piece bag. It was far too big for his tiny body, wrapping around his back and nearly to his belly button again, but it stuck and stayed in place for two days like it was supposed to. Slowly the skin on his abdomen began to heal and I felt a little more hopeful.

First CT scan to check on his kidney reflux

There were a lot of tests in those first months: CT scans, MRIs, ultrasounds, and VCUGs. Each time I hoped for something, anything to look better but every time the news was a little worse. At his MRI they found an abnormal amount of fatty tissue around his lower spinal cord. We were told that this tethered cord could cause lower body pain, incontinence, and loss of feeling and movement in his legs. It also meant that in addition to seeing a nephrologist, urologist, and gastroenterologist regularly we needed to add a neurologist to the list. Then there was the occasional ER trip that we had to make when his blood work showed decreased kidney function or possible infection. I was angry and discouraged that every test seemed to show yet another potentially serious finding. I tried so hard to focus on the present since I had no clue what the future would hold.

One of a million kidney ultrasounds

A late night trip to the ER

My little sumo

There were these little things that I always had to consider. Clothes with a waistline didn't work since the band always sat right on his soma or didn't allow stool to travel into the bag properly. I had so many pairs of little sleepers and had to give away all the pants and jeans that we were given for our baby shower. I always had to be careful how I held him, so that I didn't disconnect his bag somehow or poke him in any way. When seeing the shape of his colostomy through his sleeper, people would often ask what it was. I found it so hard to explain to everyone what I was just beginning to wrap my head around myself. One time after telling an aquaintance that it was his colostomy bag they were seeing, they burst out laughing. Very quickly they realized that I was serious and felt incredibly embarrassed and ashamed about their reaction. But still, six years later I can still feel the overwhelming combination of anger, hurt, and protectiveness that cut me like a knife.

Giggle times with papa

But in every other way life as normal: waking up every three hours to breastfeed, those first smiles, and the wonder of a beautiful, tiny human being. In many ways I was lucky that he was my first. I didn't know that babies could be easier and I didn't have any other children to juggle at the same time. He took all my attention, but I had all my attention to give.

A week before he was six months old, we returned to the Children's Hospital for the long awaited PSARP (pull through) surgery. In this procedure the surgeon makes an incision along the butt crack, pulls the rectum and colon down, creates a new anal opening, and stitches everything in place. This would be the moment of truth, to see how extensive the malformations were with his colon and how much of his rectal muscles had developed.

The morning of his surgery

He had a full bowel flush out and wasn't allowed to nurse for 24 hours before the surgery.
I had one miserable baby on my hands by the end. 

In recovery after the surgery. 

Once again, the news wasn't exactly what we had hoped and prayed for. His anatomy was more complicated than they thought, which meant they needed to make an incision from the belly button down to the pubic bone as well as in the back before they could move everything into place. The surgery was very long and the prognosis for continence was uncertain. Also, Because of his two major incisions he was in a lot of pain afterward.

This is the face of a soldier

We also encountered another unexpected problem. They removed his catheter after the surgery and he would not urinate. Ten hours later he was crying bloody murder, whether from pain or needing to pee we couldn't tell. The nurses had to catheterize him again and we prayed that he would begin peeing again on his own. But he didn't. To this day we don't know exactly why his bladder stopped functioning. My suspicion is that there was some damage done during the surgery because he was peeing completely normally up until that point. We were sent for a half dozen tests and every one showed that the muscles in his bladder were not contracting at all any more. I was taught how to catheterize him and sent home with instructions to do it every 3-4 hours. No one could give me any promise that his bladder would heal and actually, most of the doctors told me that this was going to be a permanent thing.

For three months, my days seemed to revolve around catheterizing and preforming dilatations to keep his new anal opening from closing up again. Suddenly and unpredictably, one morning I woke at about 5:30 am to feed the baby and catheterize him and felt that his diaper was wet. Not very wet, but he had definitely peed on his own. We were so thankful and over the next few weeks he regained the ability to pee without a catheter. 

Minutes before sending him off with the surgeons.
Goodbye colostomy!

One month later he was ready for his colostomy to be closed and to use his new anus for the first time. We were very excited but also a little worried since we would finally find out how well the pull through surgery had worked. This surgery was much quicker than the last and he seemed to be in much less pain afterward.

Cuddling with papa afterward

For the next year and a bit life was quieter. He had horrible diaper rash for the first month after the surgery and we were constantly battling constipation and bowel incontinence. There was always a little bit of stool spotting into his diaper and we had tried basically everything under the sun to help flush him out and keep him clean longer. Nothing worked well though and his constipation and spotting continued. This was a hard time for me since people have this "lovely" habit of telling you when your child needs their diaper changed. It took everything in me not to snap at people that, "Yes, I know my child smells like he needs his diaper changed, but mind your own business!" I was always self conscious about it but short of changing his diaper every 5 minutes, there was nothing I could do.

The Children's Inn with the NIH in the background

When Theo was two we enrolled in a VACTERL association study at the National Institutes of Health. We were lucky enough to be flown to Bethesda, Maryland for a week to enjoy ourselves at the Children's Inn and meet a group of doctors and nurses that are probably the most knowledgable in the world about this issue. Everyone was so incredibly kind and understanding and for the first time ever, I felt like there were medical professionals who actually cared about what Theo had been through and what we dealt with on a daily basis. We were given real answers to our questions and when we asked questions to which there was no answer it made us realize how important this study was. There is just too little that is known about this condition and what very little research has been done is vague and inconclusive.

Theo and the head of the study, the
awesome Dr. Solomon

And that is maybe the hardest part about having a child with a hidden and rare disability. There are no support groups, no awareness campaigns, and even most people who should know, the doctors and nurses that you visit on a regular basis, need to have the condition explained to them. People don't know when they are being insensitive or cruel toward your child since they appear just fine from the outside. Sometimes you just want people to treat you or your child with a little bit more compassion. 

VACTERL Association: Present and Future

One of the things that makes anorectal malformations complicated is that every situation is different. There is no one size fits all solution for people living with incontinence and bowel motility issues. There are so many options, pharmaceutical, surgical, and dietary, and it takes trial and error before a bowel management strategy is found that even comes close to working well. Unfortunately, during those trial and error weeks, months, or years, there are a lot of parents and children left in a terrible in between state full of frustration, despair, shame, and pain.

I wrote this in the fall of 2010, when nothing seemed to be working for Theo and I was nearly overwhelmed by the weight of it. This is highly personal, but I think a lot of parents out there will be able to relate:

"causing pain: why I hate being my child’s nurse

I have to do it, don’t I? It’s all for him, I would never force myself to do it otherwise. I wouldn’t have the strength. But when you pin his limbs down to keep him from getting away, while he screams and begs you with phrases like “Mommy, I want to stay broken. I don’t want to be fixed”, how can you help but feel like a monster? Will he ever trust me? I feel like there is no amount of love that can make up for all the times when I must force pain on him against his will. A mother should be a haven and an escape from the pain of the world, never the one who inflicts it. Sometimes I wonder how he is different from a child whose parents beat him. He doesn’t understand why we would inflict painful and seemly cruel acts upon him time and time again. He doesn’t know how much we suffer seeing him scared, helpless, and in pain. How can he grow to be a trusting and gentle person with all of this pain from those who love him the most? I am so discouraged."

The thing that hurt the most was when I thought about his future. All I want, and still want, is a way for him to live a life unfettered and unashamed by his disability and I would go to any lengths to help him obtain that goal. The life we had, with the pain of constipation, nearly constant incontinence, the ever present worry about him eating enough fiber, and forcing enemas on him was no where near that dream.

Right before Theo's third birthday we decided that he should get a Chait cecostomy. Getting this procedure done was a leap of faith for us. We had no idea if the surgery would work well for him and the cost in pain and trauma for Theo was huge. However, after two months it became apparent that it had been the right choice. For the first time ever he was able to wear underwear and go swimming without fear. He no longer suffered from cramping or constipation and most importantly, screaming, crying, and pleading became a rarity in our household. I can't overstate how much his cecostomy has changed our lives for the better.

showing off his shiny new button after its
yearly change. 

He has had it for three years now and other than the rare time when he is sick with a stomach bug, he is nearly accident free. It is not perfect all the time but he is able to go to school, go to swim classes, ride his bike, and do each and every thing he wants to. His button and flush are just a part of who he is and he isn't embarrassed by it in the slightest. This is exactly what I wanted for him and his cecostomy helped us get there.

First day of school

Going camping

There comes a time when you have to decide whether you will fit your life around your child or fit your child into your life. This is difficult when you have a child with disabilities and often requires leaping into the unknown.

The first big question for us was whether or not we should have more children. There is no clear and easy answer with VACTERL association. Most studies show that it is not genetic and only in very rare cases can two individuals with these malformations be found in the same family. Theo also had extensive genetic testing in the past which showed that all of his chromosomes were normal. But even still, the thought of going through it again was daunting. Thanks to the people at the VACTERL study at the NIH we were able to feel more confident that our chances of having another child with the same health issues was extremely low and that we shouldn't let this fear get in the way of our future.

Theo loves his little sidekicks.

We went on to have two more children after Theo, both as healthy and "normal" as anyone could have hoped and prayed for. I can't tell you how scary those first moments were after my youngest two were born when I just held my breath until I saw they had every hole they were supposed to. I wonder if the nurses noticed that it was my first response after they were born, to lift up their leg a bit and take a peek. People have all sorts of dreams for their babies, to have their father's eyes, mother's nose, curly hair or whatever, but all I asked for was that their organs were normal and that they would be able to poop on their own.

Another risk we took was deciding to move to Japan. We had very little idea what the medical system was like, how we would translate his documents, and how we would swing it if he needed another surgery. It was especially scary when Theo landed himself in the hospital only a few weeks before our big move. This was a dream that we had though, and we decided not to let fear of the unknown define who we are. We don't want him to hold himself back on account of his differences and what better way to model that for him than through our choices. Thankfully this also worked out for us and has been a wonderful experience for our whole family.

We really have no idea what the future holds. I often worry if Theo's will develop emotional or self esteem issues. The first few years of his life were so completely focused on restoring his physical wellbeing but we are entering a new phase where his psychological well being is at the center. I never want him to feel ashamed or secretive about who he is, but with such a stigma around anorectal malformations it will be difficult. 

Hopefully someday soon he can connect with others who are also living with a similar condition. Inevitably he will want to pull away from me and gain his independence but it would be great if he could find someone to be honest and real with.

Life With a Chait Cecostomy

The decision to get Theo a cecostomy was an extremely difficult one to make. He had been struggling with incontinence and chronic constipation issues for quite some time which I talk about here. I was worried that the struggles of daily suppositories, enemas, and pain, as well as his greater understanding of the insensitive comments of strangers about smell or soiling, would begin to take an emotional toll on him.

A Chait cecostomy "button". The white rectangle part is on the
surface of the abdomen and the tube and curly bit goes through
the abdomen and into the cecum.

I spoke with my pediatric surgeon about my concerns and she suggested Theo would be a good candidate for a Chait cecostomy. This is a surgery where a small incision is made in the abdomen, just below and to the right of the belly button, and into the cecum of the large intestine. They are stitched together to create a small opening directly into the large intestine. A small plastic tube contraption (that we call the "button") is inserted into this hole. The button is left in place permanently and is changed out once a year in the hospital. Liquids can be flushed though this cecostomy when needed to help clean out the bowel and prevent incontinence and constipation.

Diagram showing exactly how the Chait button goes
into the cecum. The spiral part keeps it in place
without actually being permanently attached
to anything.

My first reactions were pretty negative. I thought my surgeon was just approaching the situation with a surgeon's mind, scalpel always at the ready. I didn't want to resort to yet another surgery when possibly this situation could be remedied with diet and a laxative/enema routine. It just seemed so drastic. Secondly, I had done my time with the colostomy and that was behind us. I didn't like the idea of him having another device on and inside him that I had to worry about changing, getting caught on things, possibly restricting what activities he could be involved in, and making his disability more obvious to everyone around him. Lastly, I still clung to the hope that he would be able to gain a sense of awareness and voluntary control of his bowels.

A few more months passed of trying every bowel management strategy our doctor could come up with. Because none of them seemed to offer the quality of life I wished for Theo to have, we finally decided to book the surgery. Unfortunately, our surgeon didn't have very much information for us regarding the cecostomy, other than small booklet, and we knew no one who had even heard of it. Even Google searches didn't turn up anything in the way of personal experiences so it really felt like a blind leap that taken out of desperation.

Sleeping after his surgery

Theo had his cecostomy surgery on Dec. 22nd, 2010. The surgery was quick and problem free and we managed to be discharged from the hospital late on Christmas Eve. Even though Theo was very tired and sore we were happy to be able to spend Christmas in our own home and not a hospital room.

A very low key Christmas spent on the couch

Theo spent a lot of time on the toilet at first
watching movies and playing games on the
laptop. I have no idea why there is a hand
mixer beside him though...

The first few months after the cecostomy surgery were definitely not perfect. At first he was really sensitive about anyone touching his button and it seemed to take forever to flush out his bowels. The flushes worked well for a 24 hour period to keep him accident free but weren't dependable beyond that. We were never sure what was "normal" and there was basically no one to talk to about it. It took weeks to book an appointment with his surgeon, who was the only person who even remotely knew about using the cecostomy. Though she had performed the surgery numerous times and knew all the technical details, she had very little experience actually preforming the flush. We dreamed about going to a hospital that actually had a bowel management program, medical professionals that could give us some real advice, or even just another parent who had experience and words of wisdom for us. Unfortunately, there was and probably still is almost no community or way to connect with other people in central Canada that have experience with anorectal malformations.

But the weeks went by, he healed, and his button became less painful. We fiddled around with the amounts of liquid to flush through his button and after about three months of trial and error we found something that that worked fairly well.

Here are the specifics of how to use the cecostomy and our routine for those that are interested:

Gravity bag and tubing

1. Attach gravity bag to button adaptor tube.

2. Put some warm tap water into gravity bag and allow it to run through the tubing to get all the air bubbles out.

3. Clamp the adaptor tube and dump extra water out of the gravity bag.

4.  Mix 17 g (1 dose) of PEG solution (Miralax, Restoralax, or whatever the brand name is in your country) to 240ml of warm tap water and place in gravity bag.

5. While seated on the toilet, open door of button and plug in adaptor tube.

button adaptor tube and white clamp

6. Hang gravity bag on the hook screwed into bathroom ceiling and open the clamp on the adaptor tube, allowing the solution to run through the tubing and into the button.

7. When the gravity bag empties, clamp the adaptor tube again and wait 15 minutes.

8. Mix 1/2 tsp of salt with 240ml of warm tap water and pour into the gravity bag. Unclamp the adaptor tube again and allow the salt water to pass through the button.

9. When the gravity bag is empty, clamp the adaptor tube, take adaptor out of button, and close the button door.

10. Sit on toilet for another 45 minutes or until you've had a large bowel movement and all the liquid seems to have flushed through your bowels.

Theo modeling what the button
looks like when open and with the adaptor tube
inserted. 

Theo has his "flush" every other evening after supper. Though it seems like there are a lot of steps, it is actually a pretty straight forward and simple procedure that Dustin and I could do in our sleep by now. In the past few years we have slowly encouraged Theo to take over different aspects of his flush, like mixing up the PEG solution and salt water, opening his button and hooking up the adaptor tube, and unhooking himself and closing up his button when he is done. In the next year or two he should be able to fully take over which will give him a sense of control and privacy. Theo actually enjoys his flush because he gets a little time to play computer games, watch something, or finish up his homework.

One great aspect of the cecostomy is that enemas can be done fairly quickly and do not require a lot of space or supplies. It can be done easily in any bathroom or even on a 5 gallon pail while out at your grandparent's cabin, as Theo can attest to. For the record, he had the option of doing his flush privately but insisted on sitting outside under a big oak tree instead.

There are a few little tricks that we have figured out over the years: It is necessary that Theo eats a fairly high fiber diet. We don't give him extra fiber supplements, but we are really conscious of him getting lots of whole grains and veggies. If he ever has a day or two where we are traveling and he is not eating very balanced meals, the flush may not work too well. Also, he needs to be very hydrated. If he drinks a lot before and during the flush, then everything seems to run though quick and easy. We usually give him water before the flush and some kind of sports drink with electrolytes during the flush.

The early, crazy days when we were a little less protective
of covering up his button. I would never be comfortable with
this now. 

The last thing we learned was to cover up his button. Since the button is not attached to anything it can catch on clothes, furniture, toys or whatever and pull out fairly easily. This reduces the chance of injuries if it catches on something but it also requires an emergency trip to the hospital to insert a new tube before the hole closes. In Canada it was not such a big deal,  but I am terrified of this happening to us in Japan. Our hospital is about 2 hours away, no one at the hospital even knows what a Chait cecostomy is other than Theo's doctor, they are not open in the evening or on the weekend, and it took months for them to order his last tube and I'm pretty sure they don't have back ups. Now we religiously cover up his button to prevent any chance of it getting accidentally pulled out.

Initially, we were using a bandaid to cover it up which didn't work too well. One day we ran out of bandaids and I desperately ransacked my first aid drawer to find something that I could stick his button down with. I came across a patch of sticky dressing retention tape called "Hypafix" which had been given to me during one of Theo's hospital visits. I cut it to size and slapped it over his button. It was fantastic! This accidental discovery ended up being providencial and ever since then I have been buying it online in big rolls. He never leaves home without it!

A patch of hypafix over his button. It even works well for
long days swimming at the beach.

Living in Japan has definitely made things more complicated. As far as I can tell, cecostomies are rare and virtually unheard of here. Our pediatric surgeon had no idea what it was at first. When Theo needed his button changed in 2013, I reminded his doctor about this 6 months ahead of time, gave him a pamphlet, and all the contact information of Theo's surgeon in Canada. About a month before the change date I called the hospital to make sure his doctor was preparing for our next visit. He informed me that he couldn't do the button change because, "No one has ever done this in Japan so it can't be done". It is a bit of a long story, but we don't give up easily and finally convinced him to order a new button and do the change, only 10 months later than it should have been done. 

being goofy at the beach

You also cannot buy the PEG solution that we use for the flush in Japan. Any time someone goes back to the U.S. or Canada for a visit we send money with them so they can buy a few bottles for us and bring it back on their return. We can only find Hypafix through Amazon Japan which charges us about 6x the actual price and I have no clue if I can even buy extra gravity bags here.

So, that's where we are at now. Other than the very rare circumstance or some kind of gastrointestinal bug, the cecostomy allows Theo to be continent and in control of his bowels. Something that in the past caused us so much stress and was the focus of so much of our day has nearly disappeared. Other than spending an hour on the toilet every other day and remembering to cover up his button when we leave the house, Theo or I don't ever think of the complications he was born with. He is enjoying life with very little restrictions and I couldn't ask for anything more!

If you are considering a cecostomy for yourself or your child don't hesitate to ask me any questions. If you or your child has a cecostomy, I would love to know your experience with it and how similar or different your routine is from ours.