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