A Letter to Alex's Teacher...

Alex, heterotaxy hero to HC board member and co-founder, Heather Williams, starts kindergarten this week.  So "he" wrote a letter to his teacher introducing himself...

Hi, my name is Alexander Williams, though I like to be called Alex.  I was born in June 2011 with heterotaxy syndrome.  Don't worry if you've never heard of it, most people haven't.

Heterotaxy Syndrome is a congenital disorder, meaning it was present at birth.  If you've ever studied Latin, you might decode heterotaxy as meaning different arrangement, and that's a pretty good start.

Looking at a person from the outside, it’s hard to imagine the complexity that lies on the inside.  People look symmetrical between the left and right side.  A person’s arms are about the same size and length, their feet are about the same size, and the ears are near the same spot.  The left side is much like a mirror image of the right, or vice versa.

On the inside it’s the opposite.  The left side is completely different from the right.  The stomach is on the left side of the body, the liver on the right.  Even paired organs that have one organ on each side of the body are structurally different from each other.  For instance the left lung only has two lobes, while the right has three and the right adrenal gland is triangular shaped and the left horseshoe shaped.

Heterotaxy disturbs this.  During the early days of a pregnancy (between the 3^rd and 6^th week) the internal organs are forming.  They are created from tubes of tissue that are told how to twist and turn to form the intricate chambers of the heart, blood vessels and digestive tract.  In heterotaxy, these twists and turns don’t happen the way they should, and it’s not entirely understood why. 

All those born with heterotaxy are unique, and have individual diagnoses that describe their particular condition.

I was born with multiple congenital heart defects.  I had to have two surgeries (one in Seattle, the second in Boston) to reroute all the plumbing of my heart and make sure I could get good oxygenated blood.   While my surgeons did a great job, my heart will never be quite the same as my peers.  My cardiologist says I'm allowed to play just the same as all my classmates, but need to be allowed to rest as I feel the need.  I also don't tolerate heat and cold quite the same as my peers, and might voice that opinion from time to time.

My intestines were also born mixed up, and I had to have a surgery for those.  My twisted intestines and the surgery put me at a higher risk for bowel obstruction.  Two things that can be warning signs are intense tummy pain and vomiting bright green.  My mom needs to know about those immediately.

Perhaps most importantly for you and your classroom, I was born without a spleen.  Of course one can live without a spleen (I'm five years of proof!), it actually has a very high function in the immune system.  Certain bacteria are specifically targeted in the spleen, and because I don't have one, I'm at a high risk of developing a life-threatening infection from them.  Good hand washing practices (though, I am 100% boy and still resistant to cleaning, much to my mother's dismay), covering our mouths and not sharing drinks will significantly help keep those risks down.  If I ever look feverish, lethargic or otherwise sick, please send me to the nurse immediately.

Finally, all the medical care I have received has left me a bit more sensitive than others.  I startle at loud noises (though I'm getting better) and am sensitive to people touching me.

I am looking forward to being in your classroom and starting my education journey!

Our Journey with Heterotaxy Thus Far…

To start off, I would like to introduce my family. Ian and I (Amanda) have been married for three years in June, and we have one kid, and one pup: Elyse, our 20 month old Heterotaxy Hero, and Trixie, our 3yr old 7lb Maltese/ Yorkie mix. Ian and I met and married in San Diego California, then 6 months later Ian accepted a job in the Central Valley, about 5 hours north of San Diego. Ian works as a Physician’s Assistant at a clinic here and loves what he does! I graduated college in April and am lucky enough to be a stay at home mom to Elyse.

Our journey started the summer of 2014. On July 2^nd (I was 16 weeks pregnant) we found out we were having a girl and were so excited! We named her Elyse right then and there and never had a doubt about her name. On July 28^th we went in for our 20 week ultrasound. Already knowing she was a girl we were not concerned about hearing anything else. We went home and started painting her nursery. An hour later we got a call asking us to come back to the office and meet with my OBGYN. I didn’t think anything of it but Ian, being the medically minded person that he is, knew something was wrong. We walk in and the first thing that my Dr. said to us was “This is not your fault, you did nothing wrong”. Then he explained that they had a hard time finding Elyse’s left ventricle and that the other organs in her body (stomach and liver etc.) were not in the right place. I bawled. He referred us to the local children’s hospital an hour away and said we would be getting a call soon.

A week later we made the drive and met with Perinatology and then they sent us over to Cardiology where they did a 3 hour fetal echo. Finally a cardiologist came in and explained to us what they found and what we needed to do, as well as the fact that Elyse had Heterotaxy. All I could hear was Charlie Brown’s teacher explaining it, but luckily Ian understood it a bit better. Her official diagnosis and all of its components are: Heterotaxy, LAI, Polysplenia, Intestinal Malrotation, right sided stomach, midline liver, HLHS, DORV, Interrupted IVC, and VSD.

That was a lot to take in for anyone, especially for a family experiencing their first child. The next 20 weeks were filled with love, fear, compassion, prayers, and lots and lots of tears. One of the hardest things was keeping it together in public. Our first Sunday back at church after hearing the news was the hardest. We go to church where families are so important and someone always has a newborn. I felt peace there, but my heart was breaking on the inside not knowing if I would ever get to bring my child home. I felt jealousy for these people that had perfect little families and over time that jealousy was replaced with gratitude and love for them. Gratitude that they weren’t having to go through what we were, and love because they deserved it.

We told only our family in the beginning and then as the day grew closer we told more close friends as we needed to have a plan set up for our dog to be cared for while we were in the hospital. We tried our hardest to move on with the preparations for Elyse. We bought her clothes and decorated her nursery even though we knew that she may never get to wear the clothes or sleep in her nursery.

We met with Perinatology, the cardiologists and my new OB (as I had to be seen by a high risk OB an hour away) weekly and more than weekly at the end. We did NSTs, and biophysical profiles up to three times a week at the end (again… an hour away). We even met with Elyse’s cardiac surgeon; that was a hard meeting!

I was induced a week before my due date because the doctors were worried that I would go into labor and not make it to the hospital in time. After 50+ hours of labor and one hour of pushing, Elyse was born! She looked great!! I got to hold her without any wires for just 30 seconds before they took her and cleaned her up. Then they took her for about an hour and made sure she was ready for transport (to Valley Children’s Hospital 7 minutes away) then they brought her back in to see us in an incubator and daddy got to hold her for the first time. She had wires that made it hard to hold her and a bit scary, but she was so alert and interested in what was going on. She was perfect!

The next 3 weeks we stayed at VCH waiting for her Norwood procedure. She was doing great, the doctors weren’t going to do it unless she needed it and so they didn’t. We waited for her PDA to close instead. While waiting, Elyse’s cardiologist mentioned doing the LADDS procedure since we are waiting there anyway and we would be able to go home without as much of a worry of a volvulus happening. She was 11 days old when she had the LADDS procedure done and she handled it very well. 8 days later her PDA was so close to being closed that her doctors didn’t see why she couldn’t go home. Christmas Eve we took Elyse out of the hospital into daylight and she got to feel the wind on her face for the first time. The best Christmas gift we have ever received!

The next months were filled with lots of appointments and talk of her next surgery, but she was doing great so the appointments went further apart. We embraced this miracle and let her be a kid. We took extra precautions when out and she got extra shots, but at home she was a normal, happy baby. She was meeting all of her milestones and became very good at the army crawl!

When Elyse was 7 months old her cardiologist noticed her O2 stats were dropping into the mid 80s. So we started being watched a bit more closely again. They dropped into the low 80s and there was talk of a cardiac catheterization to see if that would help her to go longer without heart surgery. But it didn’t work. Her stats were in the low to mid 70s and we prepped for surgery. 2 days shy of 9 months she went into VCH to receive her Kawashima procedure. That was the longest 6 hours of our lives. But she did great! When we asked what her heart looked like, her surgeon said “scrambled eggs, just like I thought it would”, in a very light and playful tone. As they moved her from the OR to the PICU we got to see her already extubated and wide awake staring at us. The next 8 days were filled with long days and nights in the PICU, but we saw improvements every day. 8 days after her surgery we were blessed to bring her home. We followed up twice in 5 days and the second time they admitted her again. She had a chylous effusion that needed to be treated. Because Ian had already taken so much time off work, I braved this hospital stay on my own. We were informed that she would not be allowed anymore breastmilk (I had been pumping for her up to this point) but instead she was being put on a low fat diet of Enfaport formula and low fat solids, as well as a slew of medicine. So I stopped pumping (as I had a freezer full already and by the time she was allowed breastmilk again she would be almost 1 year) and we adjusted to the new diet. She was again sent home after 5 more days in the PICU getting her chylous effusion treated. We returned 3 times a week at first, then eventually twice a week and then finally just once a week for the remainder of the year. Each visit was an hour drive there and back, plus labs, X-rays, and a visit with her cardiologist (about 5 hours each visit). Come her first birthday in December Elyse was crawling on her hands and knees, able to eat fatty foods again and the happiest one year old ever! In January we were told wonderful news… no cardiology visits for 4 months! That was huge! She started walking at 15 months, which didn’t last long before she was running! At the end of May we were informed that we can go 6 months without seeing cardiology, and then her pediatrician said (at her 18 month checkup) that he didn’t need to see her until her 2^nd birthday… 6 whole months without ANY doctors appointments?!?!? What a shock that is and was to us!

Elyse is now a tall and skinny blue eyed and blonde haired little 20 month old miracle. She loves playing with puzzles; helping mom cook; playing at the park especially the swings; going on walks and hiking; shoes of every shape, size and color; playing with Trixie; daddy coming home from work; getting into anything and everything she can; cleaning (she grabs the swifter duster or a baby wipe and cleans everything!); giggling; smiling and being a kid!

Our little family is so incredibly blessed to have the Heterotaxy community and the heart families to lean on and learn from and to support. We appreciate the love and support felt and to be part of a group of people so full of love! We wouldn’t be where we are without the love and support of friends and family, as well as the love we feel from God.

This journey is not something we would have ever chosen for Elyse or ourselves, but we are grateful to have been able to come this far and are excitedly nervous for what is in Elyse’s future. We have no idea what else she will need, but we are confident that the medical advancements that happen every day will aid in her future and are grateful for every day we have and hope for many more.

Amanda Primavera - Mom to Heterotaxy Hero, Elyse

Advocating for your Heterotaxy Hero

After my son, Noah, was born, we spent the first few months in the hospital just trying to get him to survive. It was when we finally came home, and I started to do my own research, that we saw just how unique heterotaxy is. No heterotaxy child is the same. As I connected with other heterotaxy parents on Facebook, I learned more and more about my son’s diagnosis and what to watch out for. Invaluable information that many times health care providers cannot or do not provide. I think most doctors have good intentions, but ultimately most heterotaxy parents have more knowledge about it than them. Specialists can tell you how they would treat a child within their area of expertise, but oftentimes they don’t know how that will affect the rest of the child’s body.  For example, one complication of heart surgery is vocal cord paralysis because one of the nerves that stimulates the vocal cord runs close by the heart. My son had this happen during his second open heart surgery. When we talked to the ENT doctor, they said not to worry too much because the other vocal cord compensates for the paralyzed one, and it doesn’t cause any problems down the road. I asked about his third open heart surgery and the possibility of paralyzing the other vocal cord nerve. They said it was not close to where they would be operating.  But my concern was that they didn’t know exactly where that other nerve runs because of Noah’s heterotaxy, and it might be different than normal, and they agreed. So it’s things like this that are always in the back of my mind when a health care provider talks to us.

 

I think it’s important to know that most pediatricians have never treated a patient with heterotaxy, and that’s okay. The key is that they take this diagnosis seriously, research it themselves, and are open to your concerns. No one is more committed to your child than you. We, as parents, have the extra time and motivation to do the research to help our children. Its okay to ask questions, and doctors should not dismiss them.

 

Noah is now 4 years old and has come a long way from the scary times we spent in the hospital his first few months of life. His diagnoses include TAPVR, DORV, hiatal hernia, asplenia, and microgastria. He has undergone 3 open heart surgeries and 1 GI surgery. He coded a day after his first open heart surgery and was placed on ECMO for 3 days. Later we would find out that he suffered a stroke while on ECMO and was diagnosed with mild hemiplegic cerebral palsy (fancy name for one sided weakness). You would never know anything was wrong with him if you met him today. We just got back from Colorado where he dealt with the altitude better than the rest of the family. He went fishing, swimming, tubing, ziplining, golfing, and ice skating. He will be going to his second year of preschool this fall. He is absolutely perfect in our eyes. We thank God for him every day. He is our hero, and we could not love him any more. His next milestone is being promoted to big brother this October J.

Alana Madden - Mom to heterotaxy hero, Noah

Just Our Luck...

Years before our Heterotaxy hero, Corbin, was born, I had someone tell me, in reference to me and my husband, "You guys have the worst luck!" It took me by surprise because I had not viewed my life or ours in that way. Sure, we had some bumps along the road, but didn't everybody? 

Fast forward about 9 years and so much more has happened. Most recently, our car broke down on the evening of the 4th of July, on a dark two lane highway, in the middle of nowhere in TN, on our way back to MO from a family wedding in SC. I had some moments when I was extremely nervous. We had no operating electricity in our black SUV. Would a sleepy truck driver side swipe us? Would a party-goer that had one too many ram into us? I remember the changes in the plan for the tow being extremely frustrating. The insurance company recommended one destination and the tow truck driver suggested and convinced us that another was best. We anxiously awaited the arrival of the state trooper to give us a hedge of protection on the road as well as the tow truck to get us out of there. And time ticked on so slowly. 

Later that night, in the motel that the tow truck driver took us to, I thought of what was said to me many years ago about our luck. I thought about the many things that had transpired since that time, especially with Corbin and his health. I thought about the fear and worry while pregnant. Will he be blue when he's born? Will he need to have surgery right away? Will our baby make it? I remember being extremely frustrated with the changes in the doctor's plans. After birth, initially some doctor's felt like his malrotation was a priority and others felt like his complete heart block needed to be addressed first. The plan for his care changed a lot over the course of his first days in the hospital. Then the surgeries. I remember waiting after his pacemaker replacement at 4 days old, after his CAVC repair at 5 months, after his Ladd's at 9 months. Just waiting, for him to get stable and recover enough to go home. 

As we face a pacemaker replacement for Corbin this winter, I think I've figured out why that statement "bad luck" still doesn't resonate well with me. I'm able to see all the blessings that have prevailed throughout our lives: strong support systems through friends and family, resources and information, faith, prayer, and love, kindness and compassion. These things have been provided to us through every step of our journey. It makes all the stuff that we go through not take over and become the focus. And hopefully we can face this next step unburdened and head on.

Angel Swinton ~ Mom to Heterotaxy Hero, Corbin

Advice That Stuck...

Back in 2010 I was happily pregnant and full of excitement.  Expecting another regular appointment I went to my 3rd trimester ultrasound.  It was then that my entire world turned upside down, shaking me into an entirely new perspective on life... what matters and what does not.  In its ugliness, I guess, that is the beauty in Heterotaxy, the way it humbles us and opens our eyes, minds and hearts.  

My first reaction was fear, fear of the unknown.  I had never heard the term heterotaxy in my 24 years of living on this planet and I didn’t know what to expect immediately following the diagnosis.  Going to doctor appointments always brought me to tears.  Luckily, I ended up with a caring cardiologist who trusted me with his personal cell phone number to call whenever any questions or concerns were eating at my brain.  

On August 5th, 2010, my heterotaxy warrior made her big entrance into the world.  Although she was required to stay in the NICU for 3 weeks, she did not need surgery at birth.  She did, though, go home with a NG feeding tube.  It was so overwhelming and scary having her home.  I was afraid of not doing things right or missing something.  I was afraid of heterotaxy.  The first couple of months we were so cautious with her.  We didn’t go to public places, we kept her pulse ox on the majority of the time, and we over thought everything.  

It came time to take a trip out of state when she was a few months old.  We almost didn’t go due to fear of being away from home if anything happened.  Right before the time came to go on the trip she had a cardiology appointment at which we voiced our fears and concerns.  It was that appointment that shaped the rest of our heterotaxy journey.  The cardiologist sat down with us and told us not to worry so much.  He told us to live life as normal as can be, as if there was no heterotaxy.  To give our daughter a normal life and not keep her in a bubble.  To keep an eye out for signs of complications, which we had been told about on many occasions by different medical professionals.  He told us that even in the event of complications arising, not to think that she would die on the spot so long as we followed the instructions we had been given.  His words gave me such reassurance.  I called him on his cell phone right before leaving for our trip to double confirm what he had told us in his office.  He again told me not to worry and said, “Go on your trip and have a great time!” and that is exactly what we did.  

Since then we have traveled out of state and even out of the country on several occasions.  My warrior is now 5 years old and has graduated kindergarten at a public school with minimal sick days.  In her 5 years, she has been to many birthday parties, pool parties, school activities, the river, the lake, the beach, and much more.  She has been through two open heart surgeries and an abdominal surgery, all which have been with minimal or no complications.  To us, quality means more than quantity and for that reason we have chosen to let our special child live her life to the fullest for as long as she has the ability to.  I will not deny that I still feel fear.  I fear that we are being too risky when we allow her to do all the normal things a healthy kid would do.  But, the advice her first cardiologist gave us stuck to us like glue.  In our case, I believe that our warrior has done so well thanks to us following the advice of letting her live a normal life.  Maybe her exposure has been her strength, I don’t know.

Heterotaxy presents itself so uniquely individually, and we all deal with it in our own ways.  Ultimately, we all want the best for our kiddos and do what we think is best for them.  My goal is not to brag about how well my daughter has done and is doing nor to say that my approach is the best.  My goal is to give hope.  To let it be known that sometimes it is possible to do normal things and live a normal life even when nothing about our lives are truly “normal”.

- Irene Belezair (Carlie’s mom)

Imperfectly PERFECT!

In an instant, the greatest news of being pregnant quickly got overshadowed with an unparalleled and paralyzing fear.  What was supposed to be, in our minds, a routine ultrasound to determine gender turned into news that there was something wrong with our baby’s heart and that we would need to see a specialist.  We would later find out that our baby boy Nicholas had heterotaxy with complex heart defects. 

I was barely 20 weeks pregnant and the devastating news made for a very long pregnancy.  Looking back and reflecting on those early days, I remember feeling so helpless and overwhelmed with the questions of the unknowns surrounding our future.  There wasn’t much in way of information regarding heterotaxy and what information there was, I would find myself rereading thousands of times over.  I tried to make sense of all of the terminology that seemed so foreign at the time and somehow I was hoping to will the results of what I was reading to magically change.  All of the statistical information was grim and we were facing a single digit percentage chance of survival. 

Knowing exactly what to do was difficult. One thing we knew for certain was that we were not going to give power to all of our feelings of helplessness.  My husband Jimmy and I knew that we were heading into the certainty of some tough times.  We also knew that we had the ability to handle whatever life had in store because we had our faith and each other.  We focused our energies and started a nonprofit organization to spread awareness and provide support for heterotaxy and heart communities.  We named it the Nicholas Viner Heart Foundation for our inspiration, our unborn son.

 

Fast forward 8 months. Nicholas has a g-tube placement and two open heart surgeries under his belt. We are constantly in awe of him as he hits milestones like any other baby and he does it despite his scars.  Having put him through the toughest of times, to our amazement he still smiles, laughs, and loves.  Nicholas is bigger than a statistic; he is a grandchild, he is a brother, he is our son, he is a warrior, and he represents hope. 

If there is anything I could go back and tell my former self, it would be to just breathe. I would tell her that the journey you are embarking upon will forever change you.  Treacherous as it may seem at times, in the end you are all the better for it.  There will be a period of mourning, transition, and enlightenment of sorts. You will process the loss of the life you thought was to be and transition into your life’s version of “normal”.  This new normal will consist of speech therapy, physical therapy, occupational therapy, developmental appointments, echocardiograms, cardiology appointments, oximeter readings, feeding tubes, feeding pumps, and medications. You will then come to realize that the journey and road you are on, although paved with heartache and challenges, is accompanied by a greater sense and capacity for faith, love, and gratitude beyond what you ever thought was possible. 

Life sure looks different than the one once dreamed. It is even MORE than I could have imagined and it is forever imperfectly, PERFECT. 

Sherri Viner - mom to Heterotaxy Hero, Nicholas

http://www.nicksheart.org/

Her Fight is Far From Over...

Vivian appears to be a typical 4 year old who loves playing dress up, Elmo & Sesame Street, numbers, letters, being a big sister, and playing outside with her bike.  She has a contagious smile and laugh.  Everyone she meets is a friend.  Sometimes it's hard to believe everything she has been through.

Vivian has Heterotaxy RAI (right atrial isomerism) with Asplenia, Single Ventricle, Right Dominant AtrioVentrical Canal (AVC), Total Anomalous Pulmonary Vein Return (TAPVR), Pulmonary Atresia, Right Aortic Arch and Pulmonary Vein Stenosis (PVS) in all 4 veins. She also has Malrotation. She has had 3 open heart surgeries; modified Blalock–Taussig (BT) shunt and TAPVR repair at just 2 hours old, sutureless repair (for the PVS) at 3 months old and a bi-directional Glenn at 7 months old. In addition, she has had 13 heart catheterizations, 2 bowel surgeries and 3 g-tube surgeries and developed NEC after one of her heart catheterizations. Because of her specific combination of heart defects, we were given a 95% mortality rate for the first year of her life.

She has overcome the odds, but her fight is far from over. She will require additional heart catheterizations for many years and possibly the Fontan (an open heart surgery). Despite everything, she is one of the happiest little girls you will ever meet. She requires weekly therapies and her prognosis is “guarded” at best.  Her family and doctors are doing everything they can to stay ahead of her progressive conditions. 

Margaret Andorf  (mom to Vivian)

After the Darkest Clouds Come the Brightest Rainbows. ~ A Dad's Perspective.

Hi, this is my story and personal perspective of entering a world previously unknown to me.

I’m Dad to Ava - 7 in May, with heterotaxy, LAI with IIVC with Azygous drainage, polysplenia, right sided stomach, midline liver, two bi-lobed lungs, and LADDs performed at 7 months old with appendectomy.

We fell pregnant on honeymoon, and I couldn’t wait, having a niece and nephew I thought I knew what I could expect. Things got exciting for me as we came up to the 20 week scan, it was time to see our little miracle of life getting bigger.  We get to find out if it’s a boy or girl, and get to see it wave it’s little hand at us…I could then start to plan whether it’s football and karate for my little dude, or whether Daddy will be looking after my little princess, and painting stuff pink.

I completely missed the obvious clues of it being called an anomaly scan, why would anything go wrong? As we sat there looking at this beautiful image in front of us, it suddenly took a turn the wrong way.  The sonographer wasn’t sure what she could see, so went to get someone else to have a look. Panic sets in, this shouldn’t happen, someone tell me what’s wrong!  As more people come in and try to understand what they are looking at, you feel the fear rise inside, if they don’t know what’s wrong, this can’t be good. We are told to come back tomorrow to see the senior sonographer. We break down, but know at least we have a little girl now.

I believe I’m a strong guy, I’ve done martial arts for over 24 years and learnt how to keep control, but I am an emotional person. This was literally tearing through me.  That next day seemed like it took forever to come.

As we went back, walking into the unknown, it felt like night and day vs 24 hrs ago, nervous, scared, wondering what it means….and the scan didn’t help.  He too had never seen it in 20 years of scanning, they noticed her stomach on the right. More people came in to help, and we felt like bystanders in some bizarre medical programme.

Why is this happening to us, why can’t I stop this, hold my wife and make everything ok?  It’s my job to protect her and I’m failing her.  We then went through rounds of scans both at Reading and Oxford at the children’s specialist hospital, and privately in London to see the best there was to understand the issue.

As soon as we found a diagnosis of some kind, I hit the internet. I spent all my time on it, at work I did the minimal possible to survive and spent time looking for answers instead.  This was my mission now, to understand what our doctors didn’t, and try to help.  I felt completely helpless and my position of protecting my wife and child had gone out the window, how could I protect them from this? In a way I wished I hadn’t turned to the net. What I found after countless hours/days/weeks was what most people have probably encountered now, massive odds of having this condition, with very bad prognosis (80% mortality rate by 1 etc.).  There wasn’t the forum there is today, and examples were few and far between, and most seemed bleak.

I couldn’t share half of what I found with Mel, as she had so much going on already, as she was carrying Ava and dealing with everything inside her both mentally and physically.  I felt my duty was to help provide hope and hide the problems the condition could provide, I had to do something to protect her, as otherwise I felt hopeless.  Looking back, I’m not sure the approach helped either of us.

This happy time was turning into a survival game, and not one I was enjoying.  We were the first of our mates to go through having a child, I felt massively alone in this struggle to keep it together amongst them.  Most forums I found were mainly the mums, which helped me understand the condition and the struggles they faced, but sometimes you need a guy to speak to, to appreciate the turmoil and pain you’re suffering, yet still trying to be strong outside for your family. I’ve got great mates, but until you’re in the middle of something like this you don’t appreciate just how hard it is, and what it does to you, so they couldn’t really relate.

This changed me from who I was. I hit rock bottom thinking we would lose our daughter and that I would have let her down as her father by not protecting her.  In my mind, as men, we protect, but how can we protect against this, I was fighting an impossible fight…

Then the outlook started to improve for Ava, she avoided heart surgery, we made the tough decision to do the Ladds, and we started to work towards what life was like living with a complex condition.

I became a Trustee and Treasurer for the Heartline Families charity in the UK to help save them from collapse, and help others out as a way to focus my thoughts.  In hospital with Ava we’d seen so many babies and children in worse scenarios, I felt I had to help keep a network going for them.  In hindsight, it didn’t help us as was more pressure on me, but has helped provide hope for others.

Over the following years we’ve had ups and downs with lots of emergency hospital check-ups, extra tests, waiting for results, always worrying about Ava and what could happen.  My phone is always on in meetings waiting for the call to say she was in big trouble, it wears you down.  It came before Christmas and was the worst call I’ve ever had to take, as she collapsed at school and taken off in an ambulance….lucky she turned out ok.

We were always told she had asplenia, and now after that call and further scans they’ve found 4 J (which she named J). She’s now signed off from heart care, her LADDs is still working well, her immunologist now doesn’t want to see her for another 2 years, it feels like we’re coming out the other side, of a very long nightmare.

I find my resilience to anything is lower now, my tolerance of trivial issues has pretty much gone, and I have little patience.  Once I’m back into training (I put it on hold as priorities changed) things will get better and hopefully we can start to move on a bit.

I still fear for my daughter now, what does the future mean? I still research, but much less than before, and organisations such as Heterotaxy Connection help massively by bringing us and the latest info together, and help provide a more balanced outlook on what it may all mean. It’s sad but also great to see so many people on the forums now.

We’ve been very lucky with Ava, my wife has been amazing through it all, and although I don’t show it all the time I truly believe she’s amazing for being her, and thank her from the bottom of my heart for her support. I hope I’m a good dad to Ava, I want to protect her more than ever, but know there is still so much unknown with her.

We now have Alfie as well, just turned 3, and that journey through pregnancy was tough, but luckily he’s a healthy heart with no sign of heterotaxy. His no fear attitude helps balance out the house.

I take my hat off to all the mums out there, us partners go through a lot, but you carry our children through these tough months, and help keep them strong.  And to the other dads - stay strong, find us on FB (Heart Dads Support group) if you need to talk. 

After the darkest clouds come the brightest rainbows. However, through places like Heterotaxy Connection, Heartline Families and Heart Dads Support, hopefully those clouds aren’t as dark for people now.

Thank you for taking the time to read my open and honest thoughts, and how this journey has been for me.

Darren Pickard

Heterotaxy...sometimes, it just works.

My son, Cal, is nearly 2 and a half.  He has heterotaxy, but he has had no major medical problems related to his heterotaxy diagnosis.  We know we are very lucky.

Cal’s specific diagnosis currently includes: left-atrial isomerism with an interrupted inferior vena cava with hemiazygois continuation, stomach on right side, large midline liver, polysplenia (at least 5), intestinal malrotation (specifically, non-rotation).  He has also had malformations noted with his gallbladder and kidneys.

We discovered Cal was different at his 20 week ultrasound scan, you know, the ‘gender-reveal’ scan.   I was thrilled to be having a little boy, and the tech was bubbly and talkative until she wasn’t.  At the end of the scan, she brought in a doctor and another tech to look at the images and they told me my son’s stomach was on the wrong side.   The doctor said she had never seen it before and didn’t know what it meant. 

We eventually got referred to a pediatric cardiologist where I had a fetal echo and we got the diagnosis of heterotaxy.  The cardiologist assured us that Cal’s case was very positive compared to many heterotaxy cases.  She said that there were no guarantees, but a likely worst-case scenario for him heart-wise would be that he would need surgery to close any potential atrial septal defects, or he might require a pacemaker.   She also warned us, however, that other systems were affected with heterotaxy and we would need other consultations.

Getting the diagnosis of heterotaxy changed things for me.  I am a geophysics professor, and though I am not medically trained, I am scientifically trained and I also have access to virtually all medical journals.  This is, perhaps, both a blessing and a curse for me.  I began voraciously reading about heterotaxy, both online blogs and medical journal articles.  I read the harrowing stories of parents that had fought for their children to the end of their short lives and I also read the medical journal statistics showing the multitude of potential problems and high mortality rates for heterotaxy.   I made lists of possible issues Cal could have, and filled a manila folder with journal articles on heterotaxy.  My MFM doctor and I made a plan for his birth that included having a Level 3 NICU team in the delivery room to evaluate him right after birth.

Cal was born on a Friday evening after only two hours of labor.  I was thrilled when the NICU team said that they saw no reason to take him and that Cal could stay with me or in the well-baby nursery (well baby!), and that he would just have a few extra tests.   He looked like the perfect little baby.

Cal being the perfect heterotaxy case, however, was broken the day after his birth when we were told that he had no visible spleen on an ultrasound; I contested this finding since his particular heterotaxy characteristics fit so well with left-atrial isomerism, also frequently called polysplenia because the features usually occur together.  A few months later an ultrasound tech identified 3 round spleens and later an abdominal scope to look at his intestines found 2 more spleens. 

Cal (3 months), big sister Eva and Mommy celebrating ‘Spleens Day’ the day that 3 small spleens were found on Cal’s ultrasound scan.  Some spleens must be better than no spleen right?!

We currently treat Cal as functionally asplenic with a very low dose of daily antibiotics, since polysplenics may or may not have fully functioning spleens.    I was very nervous about this particular diagnosis when he was a baby because functional asplenia makes Cal very vulnerable to sepsis, which can occur incredibly rapidly in babies and small children.  Alex (my husband) and I were constantly checking his forehead for fever, or any other signs that he might be sick.  You know how some women wake up at night to check if their new baby is breathing?  I was checking to see if Cal was feverish.

Two years later, I am much, much less worried about Cal’s heterotaxy.    Cal does all of things two year olds do.  He loves watching Elmo and splashing in mud puddles. He goes to the gym kid care and throws magnificent bedtime tantrums. Aside from the daily antibiotics (which we struggle to remember) very little reminds me that Cal has heterotaxy.  Instead we worry about his speech progression (he is a bit delayed, but he is catching up rapidly), his frequent falls while running (his is pretty klutzy, like his mama) and trying to get him to go to sleep at night.

Cal, 2.5 years, at the Columbus science center COSI. 

I am not a really open person on social media. But I am so grateful to all of the women and men who have shared and are sharing their stories about heterotaxy.  They helped me to understand what I might be dealing with after Cal was born, when I was preparing for this unique, complicated baby.  I honestly don’t remember reading a story about a baby or young child that was as positive as Cal’s story.  So I am adding this out into the internet as another heterotaxy experience.  Yes, many times heterotaxy is difficult and dangerous, but sometimes, it just works.

Ann Yockey, mom to Cal

Heterotaxy Awareness Day - May 4th!

Heterotaxy Awareness Day (HAD) is less than 2 months away and it is a time to not only raise awareness, but also to connect with other heterotaxy families. Here are just a few ideas. Please share additional ideas in the comments!

1. Get moving. We are thrilled to announce our inaugural Heterotaxy Connection Anyway 5k, a fundraising opportunity that also raises awareness. The best part is that you can do it however you want. You can walk, run, or roll! You and other local families could organize a traditional 5k in your area or you could pledge to cover that distance on your own over a week. It’s up to you! More details coming soon!

2. Get together. One of the most rewarding parts of HAD is joining together with other families who have been on a similar journey. In the past, families have met at zoos, aquariums, parks, and houses to celebrate our heroes.

3. Proclaim. A great way to raise awareness is by getting your state or local government to proclaim May 4^th Heterotaxy Awareness Day.

4. Wear Awareness. Proudly wear teal and gold on May 4^th. T-shirts and other items for the whole family will be available soon.

5. Spread the word. Share your story with your local media.

6. Goodies. Create items to hand out on awareness day.

7. Balloon release. Release balloons in memory of the Heterotaxy Heroes we have lost.

We can’t wait to see how you decide to celebrate Heterotaxy Awareness Day!

Please e-mail stacy@heterotaxyconnection.org with any questions and/or suggestions.

Life...beyond perfect to us now!

After the birth of my daughter in 2006 we decided our family was complete. I signed paperwork to have my tubes tied only to call and cancel a week before my procedure. There was a sadness that took over me at the thought of not being able to have children again.

After nearly eight years we decided we would try for another baby. There was just something missing from our family.

We first talked with our other two children to see how they felt about it. My son, who was 11 at the time was all for it. My daughter, who had been "the baby" for 8 years was devastated. She was so afraid that the new baby would "take her place." I reassured her that she would always be my baby & I loved all my children equally. My son wanted a new baby so badly that he even tried convincing his sister. Once she decided she was ok with it she wanted the baby now!

We found out we were pregnant in November of 2013. Three months after we started trying.

Everyone was over the moon excited!!! We included the kids in everything that had to do with the baby. We scheduled a 3D/4D ultrasound at around 18 weeks to find out the gender of the baby since they kids wouldn't be able to attend the anatomy scan. The looks on their faces & the excitement in their voices when the technician placed the wand on my belly and their baby brother or sister showed up on the big screen television nearly brought me to tears. I could tell right then that the love that they had for this baby was immeasurable.

That day we found out we were having another boy. I think my daughter was secretly happy about that because it meant she was still "Daddy's girl." The whole way home the kids passed the 4D ultrasound pictures back & forth in the backseat, chatting about who he looked like. We all agreed that he favored his big brother. They were both so proud!

I got my repeat cesarean delivery date at the beginning of July 2014. I delivered our baby boy on July 16th, 2014 at 7:55 in the morning.

Once back in my hospital room we all waited until he was released from the nursery. They were having a bit of a time bringing his temperature up. My daughter was so anxious! She just couldn't wait to get her hands on him. Both of my children walked back and forth from my room to the nursery window across the hall. The anticipation was almost too much for them to bear. For months they rubbed and talked to my belly and finally the baby they'd waited nine long months for was within arms reach!

After what seemed like an eternity, my husband and two children, all with smiles from ear to ear followed the nurse as she rolled the baby into my room. Life at that moment was perfect. We all basked in the beauty of this new born life that we had been blessed with.

Hours after Tate's birth things went downhill fast. What started out as a celebration of the birth of our third child, their baby brother, quickly turned into a day of tears. A day of uncertainty. A day of sadness.

We didn't know what was wrong with Tate, we only knew at the time that he was sick. Very sick.

Witnessing my children's faces go from complete happiness to fear & wanting somebody, anybody, to tell them what was going on was almost more than I could take. This wasn't how it was supposed to happen. They weren't supposed to ever have to go through something like this.

The day of Tate's birth we received the news of his sick heart & that he would have to be flown to the Children's hospital in Birmingham Alabama the next day. That night my daughter stayed with my husband and I at the hospital. She was terrified. She crawled into bed with me and just cried and cried. All I knew to do was love her and tell her that everything was going to be okay.

The next day I was discharged so that we could travel to Birmingham and be with Tate. There was mainly silence from the kids. Every once in a while there would be the sudden question. The ones where you just know their little minds had been pondering. It was heartbreaking. They were scared of the answers they may get.

We made it to the hospital that Tate had been transferred to and after many tests we received his diagnosis. Heterotaxy Syndrome with asplenia and complex CHD. We got his surgery date. July 24th, 2014. Eight days old. Having to explain to my children that they would have to cut open their baby brothers chest to fix his heart was one of the hardest things I've ever had to do. They were 11 and 8!!! This wasn't something I thought they would ever have to endure. Never in a million years. But, much to my surprise, they were okay and they were understanding. They were still scared and fearful, but they knew this had to happen. My babies, my sweet, sweet, understanding babies.

Surgery day came & everything went as planned. My daughter spent a lot of her time standing at Tate's crib side rubbing his baby hair to the side & saying over and over "you're too sweet for this." She was so precious to him.

During Tate's recovery the kids had to travel back home with family to start the school year. This was hard. We had spent the summer break as a tight knit family, preparing for, delivering, and ultimately standing by our baby as he fought for his life. But, once again, they understood. They knew that with Tate is where we needed to be at the time and that this was only temporary. Their willingness to work with us as a team and set their own feelings aside for the sake of their brother was overwhelming to me.

The days and weeks came and went. There were many tearful phone calls with our children, mainly because we missed them & they missed us. They never lost sight of the ultimate goal and that was to bring the baby brother that they'd waited so long for home!

The glorious day finally came! We were discharged from the hospital and sent home three weeks after Tate's birth. Having our three children at home was something we were unsure would ever happen. But it did! We survived. We worked as a family and we made it work. I'm not sure where we would be mentally if it hadn't been for our oldest two being so unselfish and understanding. Life may not be how we had envisioned it while I was pregnant with Tate but it is beyond perfect to us now!

Amanda Orso (mom to heterotaxy hero, Tate)

Still Standing

In October of 2013, we took Alexandra on what we call her “Ivy League” tour, having a liver transplant evaluation at Yale in Connecticut and receiving a second cardiothoracic opinion on her by Harvard, or Boston Children’s. We then in April of 2014 did a combined heart/liver transplant evaluation at Boston Children’s, and in October of 2014 did a combined evaluation at Stanford Lucille Packard – all three ended in denials. This is the story of why we are still standing.

I remember the look on Dr. Miloh’s face implicitly. His lips were drawn, pursed almost. He looked like someone had stabbed him in the heart right in front of us. “She needs a liver transplant, the only way to help her is to get her a new liver.” My heart sank. I always thought maybe she’d need a heart one day, but never did I think another organ. I also didn’t think that any of this would have taken us on the journey we have been on. Never in my wildest dreams (or nightmares) could I have imagined the lengths we have gone to in search of an answer. In search of someone, anyone who would help her.
  

I seem to have all these memories of doctors faces over the years. Like frozen moments in time. The face I like to call her local cardiologists “oh s**t face”; Dr. Miloh’s face every time her ammonia was over 100; the look on Dr. Hellenbrand’s face (the chief of cardiology at Yale) when he told me there was no way she could have a stand-alone liver transplant; the look on her Boston cardiologists face when he had to tell us her heart wasn’t in the same shape we were being told it was at home. I will live with these doctors' faces etched in my memory forever.

I remember the last denial for transplant clearly. Dr. Kaufmann called me and discussed why Alexandra would not be a candidate for transplant. I didn’t say much other than “Okay, I understand.” What can you say? “She’s only got 1 SVC; her body is just not compatible with a four chambered heart.” What else could I say?

Three no’s from the most prestigious centers who see the most complex kids in the country, and the world. No one will touch her.

I felt raw. Alone. I had a breakdown. I alienated people who I felt were some of my closest friends because I couldn’t figure out why. I couldn’t figure out where to go or what to do. I fell apart.

Three no’s. I essentially spent the rest of 2014 and the first part of 2015 in a rage. I was so angry. The world, the entire world was against me and my child. I was lost in a storm of tears, and heartbroken from the fact that there would be no saving my first born gal.

But let me tell you where we are today – we are good. We are great. We are learning to live in the reality of this life. We are truly living.  No one will give her a transplant, and that’s okay. She told me herself that if I forced the transplant on her she would die. I think our kiddos know so much more then we think they do.

I’m going to bury my daughter. I say it all the time. People look at me like I’m crazy. I think it’s the least crazy thing I have ever said. I laugh wholeheartedly, and I wear everything out for the world to see. Yes, someday I will stand above her grave and my arms will be empty from the loss. But that day is not today.

What we have now is true freedom. I live in reality. I bet you’re thinking I’ve given up hope, but I am far from it. I have so much hope. Because I put the power and control into places that they needed to be in. I learned to be vulnerable, and not to be afraid of the pain or the craziness inside. We’ve been given a life. A life full of pain and heartbreak. Filled with open heart surgeries, and drugs, and therapies, and tons of crap to fill up every single day with no minute to spare. But it’s glorious. It’s messy. I’m messy – she is messy, and beautiful.

It’s a life. And even with three no’s to transplant, a left lung that’s just doing nothing but recycling unoxygenated blood, and worsening scoliosis – we live.  We live because it’s what we have to do. Yes, it took me to have a breakdown, to feel like I was coming apart at the seams (and sometimes I still feel that way), to question every move I’ve made since the day she was born – but I realized that this was our life. It isn’t going to be pretty, not everyone is going to want to be my friend, and sometimes I’m going to look horrendous – but it will be glorious.

Live gloriously. Live vulnerably. Just live. And if that fear of standing over your child’s grave hits you from time to time, remember today. Remember what’s right in front of you.

Remember and live gloriously. 

Danielle Edges (Mom to heterotaxy hero, Alexandra)

We Chose CHD!

Instead of Congenital Heart Disease (CHD) choosing us, I guess you can say that we chose CHD!  A common question I got asked by doctors who met Lily Grace for the first time was, "Did you know how complex her heart was when you adopted her?"  Imagine their shock when I tell them that we chose Lily specifically based upon how gloom and doom her medical prognosis was.  The very thing that caused other adoptive families to run away in fear had our family racing to bring our sweet girl home.

Lily was born in China with Hypoplastic Left Heart Syndrome (HLHS).  Simply put, Lily was born with only half of a heart.  She also has Heterotaxy, which means that all of her organs are on the wrong side of her body.  Lily’s heart is further complicated by being upside down, backward, and in the right hand side of her chest.  She had two open-heart surgeries in China, and then the surgeons deemed her “terminal” and inoperable.  At that point her orphanage had her adoption paperwork completed.  We came to find out on Gotcha Day, the day we met Lily for the very first time, that her orphanage truly believed a family would never ‘chose’ her. 

Children with HLHS typically have a series of three palliative open-heart surgeries.  It wasn’t until Lily was home from China, and she had her third open heart surgery that we understood why the Chinese surgeons deemed her inoperable.  The very first surgery that Lily ever had was to insert a shunt into her heart to increase pulmonary blood flow.  A textbook BT Shunt is placed on the right hand side of the heart, near the Superior Vena Cava.  Lily’s Superior Vena Cava is located on the left hand side of her heart due to Heterotaxy.  Unfortunately, the surgeon placed Lily’s BT Shunt on the right hand side of her heart, far away from her Superior Vena Cava.  This mistake began a series of critical issues for Lily Grace.  Shortly after her third open heart surgery, called the Fontan Procedure, Lily’s right pulmonary artery (RPA) became completely discontinuous from her heart.  In 2013 Lily’s surgeon attempted to reattach her RPA to her heart with a donor adult femoral vein, but unfortunately that surgery failed.  Lily is currently living with only one functioning lung. 

The US cardiologist who reviewed Lily's medical file while she was still in China was worried that he may have given us false hope about Lily's congenital heart defect.  The truth of the matter is that before we even knew if Lily was operable we submitted a letter of intent, asking China if we could please make her our daughter.  Lily needed heart surgery that China would not (could not) do.  But, what Lily really needed more than surgery was the love of a family.  Prior to bringing Lily home from China Jacques and I always said that we wanted desperately to show Lily the love of a family for as long as God allows her little heart to beat.  And here we are 3 ½ years “home” and Lily does KNOW the love of a family, and she knows about Jesus and how much He loves her too!!!! 

A small percentage of children who have had the Fontan Procedure end up with a life threatening condition called Protein Losing Enteropathy (PLE).  PLE caused horrible fluid retention in Lily’s lungs and abdomen.  Lily was essentially drowning to death in her own secretions.  Try as they might, Lily’s cardiac team was unable to control her PLE symptoms with medication.  We were told that the only cure for PLE is a heart transplant.  Lily was evaluated for a heart transplant, which is when we received the devastating news that due to her complex anatomy and the fact that she only had one lung attached to her heart, Lily was denied transplant listing by three transplant centers.  Shortly after we had conversations with the hospital’s hospice team about bringing Lily home to die, her heart failure cardiologist walked into the room and asked me if she could please present Lily one more time to their transplant committee.  Twenty-four hours later Lily was listed as a 1A, top priority, for a new heart.  On June 14^th, 2014 Lily Grace received the most precious gift that could ever be given - her Hero’s heart.  Lily’s donor was a non-lung donor due to the trauma he suffered in the motor vehicle accident.  What this meant for Lily was that she also received her donor’s left pulmonary artery.  Her surgical team was able to put Lily’s new heart in its correct anatomical position in her body even though all of Lily’s connections are upside down and backwards from her heterotaxy.  Lily’s new heart is only attached to her single left lung since her right lung had previously become discontinuous from her heart due to a blood clot, and the risk of Lily being on bypass longer was not an option.   Lily Grace is said to be the most complicated pediatric heart transplant to ever be done in the USA.  A huge miracle indeed!  

After a very difficult recovery, and 508 days on supplemental oxygen, Lily Grace is absolutely thriving!  She is filled with life, extreme love, and bountiful HOPE.  It has been an honor to be Lily’s mommy.  I have learned through this adoption that even more than Lily needing a family, I needed Lily.  She has taught me more about life and love in the 3 ½ years that I have known her than I learned in the prior 34 years combined.  Loving Lily is an excruciating love.  Selfishly, Jacques and I want more than anything for Lily to grow old and outlive us.  But whether she does that or not, if I am still alive to see her take her last breath, I will know without a shadow of a doubt that adopting Lily was exactly what God meant when he told us to go and be LOVE. 

Love is risky.

But let me tell you that it is SO worth it.  

A million times over.  

Love is worth the risk.