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National Rare Disease Day

It's National Rare Disease Day, and since we discovered this week that my son's congenital scoliosis is progressing, it is a perfect time to focus on this topic and share his story.

My son was born with Anal Atresia. When all babies are born, one of the first things the nurse will do is take their temperature in their little booties.  I always thought this was just the most accurate way to get their temperature. Well, that is true, but it is also how they check to make sure their little bums have formed correctly.  

After a pretty easy labor and delivery, everyone had moved their focus on the little guy that just came out of me. I noticed that my son's nurse kept messing with him and was acting a little weird as she was running all the tests on him.  I, of course, was doing the after birth shaking as the doctor finished doing his business with me.  The nurse did eventually hand him to me and told me I could start to breastfeed, but I had an innate feeling something was not right.  Not long after the nurse left the room, another nurse came in and said they needed to take my son to run some more tests. 

Being my second child, I knew they did lots of things to newborns, so at this point, I wasn't super concerned, but my motherly instinct was kicking in more and more. My son looked super healthy. Big chubby cheeks, round and plump. He did come two weeks early, but so did my daughter and my son weighed a healthy 8'10 oz. 

About 45 minutes later another doctor came in at the same time as my brother-in-law.  We were all talking to my brother-in-law, so the doctor just stood there. I kept thinking to myself why on earth did my brother-in-law bring a friend with him and a friend I had never met? Finally, I looked at the odd man just standing there and asked if he needed anything. Finally, he tells me he is the paediatrician on call and that there may be some issues with my son. He goes on to tell us that he thinks he has anal atresia, which is where your anus is not opened or formed all the way. He continues to let us know that he does not know the severity of it at this point, but typically with this condition, babies tend to have other complications. Either with the heart, kidneys or spine, so our son needed to be rushed to Children's Mercy NICU for further testing. 

My mind was blown. I could not comprehend what was happening. How can his butt not be formed? I had never heard of anything like this. Why had I never heard of anything like this? Did I do something to cause this?

Finally, they bring our little guy back in the room. I held him as Children's Mercy arrived with the incubator they were going to transport him in. It was at this moment that I lost it. I just had him, and they were going to take him from me in this giant looking glass cage thing that had a million gadgets hooked up to it. This couldn't be real. But it was! After I gave him a million kisses, they secured him in the contraption and wheeled him out to the ambulance. My husband at the time follows the ambulance downtown as I could not leave the hospital yet. 

I was all alone. My sister had left for the airport to pick up my mom. My baby and husband were on their way to another hospital, and my 2-year-old was at her grandparents waiting for the call that she could come up and meet her baby brother. But, that didn't happen. I laid in the cold hospital room still not able to feel anything from the waist down, but able to feel everything in my heart. My heart was hurting, and my mind was confused and scared. 

My mom arrived, and the next day they allowed me to leave the hospital to go downtown and be with my son. We arrived at the hospital, and my husband tells me it is a long walk to the NICU so maybe I should ride in a wheelchair. I looked at him like he was crazy. I didn't need a damn wheelchair, get me to my baby. Well about halfway to the NICU, I began to realise a wheelchair was probably a good idea. I mean I did deliver a baby less than 24 hours ago, and at this point, there was no mistaking that. I could feel everything, and I was pretty much down to a crawl. But, I finally made it to the elevator and just prayed that everything was ok down there. Well, as ok as it could be. It was already a train wreck, but I didn't need any more complications. I had too much to worry about already.

I finally made it to him. Tubes and cords were all over. All over his little body attached to giant machines that surrounded his tiny bed making strange beeping noises all the time. Since he couldn't poop, he couldn't eat, so they feed him through a tube, and it came out of him through a tube. So, literally tubes everywhere. But, we could hold him, and that's all I wanted to do. 

We met a lot of doctors, and they ran a million tests on him. He did have anal atresia, but they didn't know how extreme until they went in for surgery. They also discovered a small hole in his heart but said that should take care of itself as he grew. His kidneys looked good too. But, they did discover that he did have scoliosis. Midline anomalies are typical with anal atresia. They also discovered during testing that he had a fused front tooth, but they weren't concerned about that since that could be fixed when he was older. However, at this point, they began to become concerned with his brain development. They ran a ton of tests and everything looked good but said they would not know for sure until we see how he develops as he grows. This was becoming a trend!!

So, at this point, their main concern is his anal atresia. They have to operate, but with him not being a life or death situation, they couldn't get him into surgery for a couple of days. So, I pumped a lot, and they continued to feed him through a tube. 

We couldn't sleep in the NICU, and with a 2-year-old at home, my husband and I would go home in time for dinner and be with our daughter and sleep. One night around 4am I had a weird feeling. I called the night nurse a lot, but this time something felt off. So, I called and was told that they were trying to move his tube into his other nostril and he stopped breathing.  I never moved so fast. I was at that hospital in record time. He was fine, and it turned out that one nostril was a lot smaller than the other, so when they moved the tube he literally could not breathe. We then had to run tests with ENT after this and was told that this should also correct itself as he ages. But, surgery was put off to make sure he was stable.

Finally, when he was five days old, the surgery was scheduled. A super stressful day, but we loved his surgeon. His bedside manner was awesome, and we felt confident with him, but surgery is stressful no matter who it is, especially a newborn baby. Plus, we were told that a full pull through had never been performed in this hospital, so he would probably have a colostomy bag for at least six months. WHAT!! How do you change a colostomy bag? 

A few hours later, the surgery was over. My son had done great, and for the first time at this hospital, they did a full pull through, and no colostomy bag was needed!!! Yay!! And, within an hour of surgery, he had his first poop. It was amazing. Poop is a big deal with babies in general, but this poop was magical!!

He stayed in the hospital five more days for observations and more testing, but we finally got to bring him home. It's super intimidating bringing home a newborn, but even more so when one is sick. 

Over the next couple of years, he had a lot of doctor visits, Catscans, MRI's, bladder testing and surgeries. Since he had surgery when he was five days old, they didn't circumcise him until he was six months old. At that time they discovered he had hypospadias and an undescended testicle that had to be corrected at the same time. 

When he was 2, he had his third surgery, this time on his spine. He has a syrinx on his spine, and he had a tethered cord. The syrinx seemed to be stable, so we were, and are,  just keeping an eye on that. But his scoliosis was continuing to progress. So, after a lot of discussions with his neurosurgeon and his orthopedist, we all decided that untethering him would help stop the progression of his scoliosis. 

So, at two years old he had major spine surgery, had to lie flat on his back for four days and basically couldn't move. How on earth was I going to keep a busy, active two-year-old down for four days?  Well, after pacing the hospital for hours, his surgery went well, and for the next four days, he didn't want to move. He laid in that hospital bed, played games, red books and watched Baby Einstein for four days. I would get the wagons they have a Children's Mercy and make a little bed in it then lay him in it and we would walk around the hospital. He loved looking at all the art hanging from the ceiling. We went home after four days, and he was back to walking and playing in no time. 

This was also the first time I had someone ask me if he had VATERs. I just looked at this person like what are you talking about, while another nurse changed the topic. But, it was something I couldn't stop thinking about and had to look into it. So, I decided to look it up and I typed it as VADER, like Darth Vader. I still laugh when I think of this. I obviously knew nothing about this except what I learned on Grey's Anatomy. Yes, they had an episode about VATER and it scared the crap out of me. 

VATER is an acronym. V is for Vertebra; A is for Anal Atresia; T is for Trachea;  E is for Esphogaus and R is for Renal (kidneys). 

I started mentioning this to his doctors and was told no because he only has a couple of the anomalies and you have to have 3 to 4 of the conditions for it to be considered VATERs. We had genetic testing done, and everything came back normal. We were told he was a little trailblazer, and everything about him was new, and he would be continually watched. 

When he was about 9, we had a heart screening done on him and my daughter that they offered at their schools for $100. I just knew my son's screen would come back with something wrong and it did.  So, we were now off to the Cardiologists. We found out that his hole never did close up and he has mitral valve regurgitation. None of it is serious or life-threatening, but something we have to keep an eye on every year.  

So now, we have three anomalies (doctors don't count the fused front tooth).  He has Congenital Scoliosis, Anal Atresia and a mild heart condition. But, at the time we discovered his heart issue,  cardiac was not apart of VATER. Within the last few years or so VATER became VACTERL. And there it was, my son was officially diagnosed with VACTERL.  The conditions in bold are the ones my son has. 

VACTERL stands for V -  Vertebra, A - Anal Atresia, C - Cardiac Anomolies, TE - tracheoesophageal fistula, R - Renal and L - Limb Anomolies (radial agenesis)

We discovered the limb anomalies when he was older, but this is what sealed the deal. He does have one leg shorter than the other by just a little, but this is common, and it could be related to his scoliosis. So we didn't think anything of that. 

It was my sister who kept mentioning how his thumbs look like fingers. She always said this and I noticed it too, but it wasn't super noticeable. But, when they changed VATER to VACTERL, I started doing more research. And, while my son's case is very mild, he does have Triphalangeal. Triphalangeal thumb (TPT) is a congenital malformation where the thumb has three phalanges instead of two. And there was that word again, congenital. This confirmed the "L" in VACTERL!

The medical field doesn't consider VACTERL a disease or even a syndrome. They call it an association. Some cases are very extreme and can be life-threatening. My son's case is more on the mild side, and by looking at him, you would never know the silent issues he has dealt with and will continue to deal with his whole life.

This brings me to now.  We go to doctor appointments all the time on top of the normal wellness visits and the countless orthodontist appointments.  The first round of orthodontics work was to move the fused tooth over to make space for a fake tooth. We are in the middle of the second round, and he now has two front teeth and a mouth full of braces. The third round will happen in his early twenties when he has finished growing. That is when they will put in a permanent front tooth. 

This week we visited his orthopaedic. His curve in his back has been holding pretty steady since he was 5, but we were warned that it could get worse when he hit puberty. Last year at 13, his curved progressed a couple of degrees. His doctor didn't mention surgery, even though it has been discussed in the past. He just said let's continue to watch it, and if he has no pain or issues, we will see you in 8 months to a year. This week we returned, and he has grown a ton this last year, and his spine showed it. His curve increased by 5 degrees. Not what we wanted to hear. We also heard the word surgery. Also, not what we wanted to hear. 

His curve is now 47 degrees,  and we are right in the middle of puberty.  His doctor is leaning towards the surgery side but said we also don't have to do anything right now. We could come back in 6 months and see if it's remaining stable or continuing to curve. My son, at this time, has no pain and he is very active in basketball and baseball. 

So, this is where we are. My son does not want to have surgery, but who would, especially if you have no symptoms. Who would want to have two metal rods put in their back, some bone removed and a cage surrounding the spine. Plus having to spend four nights at the hospital, dealing with the pain and at least six months of no activity. Sounds like a hell of a time!!! Plus he could have more pain and complications after surgery, none of which he has now.

The downside, waiting until he is 40 when he does start to struggle with pain and immobility, the surgery is much more difficult. 

At this time, I'm trying to get an appointment with Shriners for another opinion, looking at other options like physical therapy etc. We do visit a chiropractor, and I try to make him do yoga with me, but at 14 the last thing you want to do is yoga with your mom!!

So, that's where we are and that's his story through my eyes as we travel through this journey with a host of rare medical issues. I know it could be so much worse. He has no learning disabilities and acts just like a normal teenager. So, every day I count my blessings. 

One thing his doctors were 100% right about...he is a TRAILBLAZER, and I have loved watching him grow and conquer all his limitations and never, ever has he complained. He always tells me, "It's not a big deal mom, I'm fine, you worry too much!"  

Yes, I do, but that's my job as a mom, and I wouldn't want it any other way. Most the time I believe it is my children teaching me about life than me teaching them. They are my inspiration.



Right after he was born. Look at those cheeks!!

In the NICU

Before his Anal Atresia surgery

After his Spinal Surgery

Couldn't move, but he was still so happy!

Two years old, post-surgery. You can see his big front tooth! I actually miss it now. 


Playing Basketball

This guy is awesome!