Difficult Diagnosis

#difficultdiagnosis #raresyndromeawareness #chd #heterotaxy

We waited for our next appointments patiently and filled our days with family and as much fun as possible. June 7 came quickly, thankfully, but it was my first day of double appointments - I had an echocardiogram scheduled back at Savannah Children's Heart at 8:30AM, and then my regularly scheduled 28-week OB appointment at 10:15AM. Getting to Savannah by those appointments meant leaving by 6AM, which meant lots of preplanning. Kane is trying to save his days at work for when Ruth is finally here, so my mom came with me to this seemingly routine, unimportant appointment.

The day's activities began as expected. A very lovely and kind sonographer performed my echocardiogram (which is a sonogram of a person's heart, by the way), and then I had about a 5-minute meeting with my cardiologist to let me know that nothing had changed since my last visit; Ruth's heart problems had not gotten bigger, but they had not gotten smaller, either. I then informed him that we would be visiting Sibley Heart the following week, and would be probably be discontinuing care at Savannah Children's. It took him off guard, but I think he understood because Savannah cannot even perform the type of surgery that Ruth needs. Why would I not go ahead and get in with Sibley Heart Center, the people who could?

Then, we went to the other side of the building to my OB's office, and I began to wait. Remember when I told you that, should you ever have the pleasure of being referred here, you need to be prepared to wait? I checked in, and the front staff let me know that they were running about an hour behind. At least they're kind enough to let you know that! And it was definitely accurate timing...I planned my kid's second birthday while I waited LOL.

We started with a sonogram to get Ruth's measurements and check on new things, now that she was a bit bigger. The sonographer, Laura, was very sweet and told us exactly what she was doing along the way. She was VERY surprised at how much Ruth moved around, and laughed at how forcefully Ruth could kick the probe! It's exactly because of all of these movements, though, that my sonograms take FOOOORRREEEVVERRRR and we have to double and triple check things. This was actually the first day (at 28 weeks 5 days) that they were able to catch her opening and closing both hands on camera - which is great, because it's one of the things they needed to see. They were trying to rule out Holt-Oram Syndrome, and they did!

I then asked Laura to check Ruth's spleen based on what the cardiologist had mentioned a month prior. If you remember in my blog post about my visit, he brought up a question about her spleen, but then wouldn't answer me when I questioned what he was really trying to ask. That was apparently also on Laura's list - to look at Ruth's spleen and liver. We couldn't see her liver yet, but we did see a spleen, so that was reassuring! We had been in imaging for about an hour at this point, so Laura left to go find my doctor for that day, Dr. Reddick, and ask if she wanted to come in to see the images in motion (as opposed to stills on a screen that she would view later). Dr. Reddick was busy at the moment, so they moved me to an exam room for my routine check up and my mom went downstairs.

The office's P.A., Michelle, came in, to do the legwork of the office visit. I am telling you, I have yet to meet someone in the High Risk office that I haven't liked. Michelle is very professional, but very funny and lifted the general spirit of the room! I had been having some really concerning pains over the weekend, so hers was exactly the attitude that I needed. Finally, I met with Dr. Reddick, and she is absolutely amazing. Again, VERY personable, very knowledgeable, and very much the doctor I want to deliver me. We discussed my delivery plans and options, and my plans to meet with Sibley Heart. Then, unexpectedly to me, she said that she wanted to get me back into an imaging room to see Ruth in motion and get a look at some more things. I did not call my mom back upstairs for this part of the appointment, because I could feel something coming. Since Kane couldn't be there, I didn't want anyone else to know the big information until he did.

Laura started the second sonogram with just the two of us in the room. She scanned back over Ruth's stomach, and then turned on the screen that allows you to see blood flow. I can't remember her exact words, but essentially, she explained that she believed that Ruth had something called polysplenia, or multiple spleens. As she showed me on the screen, Ruth had blood flowing to multiple, small organs in her belly, where normally it would be larger, more recognizable organs. Ruth has at least two small spleens (maybe a smaller third one), and I'm honestly not sure if she said anything about a liver. My brain was too busy wondering what a spleen even does to listen to anything about a liver. All I knew was that your spleen was tied to your immune system. I would need to ask Dr. Reddick about this when she came in.

Laura then moved around and did some more measurements, and then she focused on something in her back - at least I think it was a shot of her back...all I could see was ribs and some pipes. Honestly, it could have been Ruth's chest. [Did I mention I have no medical training?] Laura explained that she was trying to rule out or confirm something new, something with which she had not had a lot of experience. She even stepped out to get another sonographer to confirm what she was seeing on the screen. While she stepped out, I grabbed a photo.

That double-barrel rod that the green arrow is pointing out is what Laura was questioning, and what the other sonographer stepped in and confirmed: Ruth has an interrupted inferior vena cava. That long and important vein that carries blood from the lower half of the body back to the heart was interrupted, aka missing a chunk, and didn't spill out into the right atrium like it's supposed to. What does that even mean?? And why did my normal sonographer find this and the cardiologist who read my echocardiogram THIS MORNING did not?! This just further confirmed my desire to go to Sibley Heart Center.

Just as a refresher, here's a list of Ruth's known differences at this point: single umbilical artery (instead of the normal two), stomach on the right side (instead of the normal left), echogenic (bright) bowel, AV canal defect, interrupted IVC, and polysplenia.

Dr. Reddick then came in and watched Ruth for a while, and again confirmed the polysplenia and interrupted IVC. I asked the doctor what polysplenia would mean for Ruth, and she explained that these multiple spleens might work together, or they might not work at all. Either way, it meant that her immune system would be compromised from birth; she might have trouble fighting off regular infections or recovering from surgeries. She then looked at me and said, "Okay...all of this is pretty consistent with something called Heterotaxy Syndrome."

That's a term that had actually been thrown around since the beginning of this process, but it's so rare that we hadn't given much credence to it. I'll get to what it is in a second, but I asked Dr. Reddick, "So...are you confirming Heterotaxy right now? Because so far, all of her genetic results have been negative." She replied, "I know we don't have those third part results back yet, but yes, I am confirming Heterotaxy for Ruth, based on the constellation of differences we see."

Because the term had been used in our meetings with genetics and cardiology, I was a little familiar with Heterotaxy at this point, but I had literally told Kane, "There's no way it's Heterotaxy." Heterotaxy means literally "different placement," meaning that organs are flip-flopped within the body. At the time that we first heard of Heterotaxy, the only organ we knew that was differently placed was her stomach. And FYI, some people just have their stomach on the right side of their body (instead of the normal left) without it ever being a problem - a friend of mine in healthcare called this "less of a medical emergency, and more of a cool party trick." But Heterotaxy is not chromosomal, nor is it a specific gene deletion, which is why it had not shown up on my amniocentesis yet; it's a mutation of certain genes that allow organs to know the difference between left and right. If you've made it this far without opening up a new tab to Google what Heterotaxy is, that's great. Please don't Google it. It'll give you a lot of information about life expectancies and basically tell you the worst of Heterotaxy. There is a very broad spectrum for what Heterotaxy means for each individual, and I've since learned that literally every person with this syndrome has a different anatomy. No two people with Heterotaxy are alike.

So I asked Dr. Reddick, "What is the quality of life for a kid with Heterotaxy?" She took some time to think, and finally responded by saying that it would ultimately depend on two things, the most pressing of which is Ruth's heart condition. This is a really, really rare syndrome (I'm talking less than 1% of 1% of heart defects comes from Heterotaxy patients), and there is no clear cut course of action. It is imperative that we get in to the right doctors and the right hospitals who have experience with this. Meeting with Sibley on June 15 would let us know if we were getting Ruth the best care for this most pressing need.

Dr. Reddick also said that Ruth's quality of life would depend on her willingness to fight. I can stop you right now and tell you that Ruth Abigail Lee is a fighter. Kane and I were talking about this before we even knew that Ruth had any issues or differences. Looking back, there are several instances in which she has proven herself to be a force. To begin, I got pregnant with Ruth on a day that I was not even supposed to be fertile (according to my calendar) - and that's as detailed as I would like to be on that subject. I had a threatened miscarriage and bleeding at 9 weeks that led to a short hospital stay, followed by a round of food poisoning from food we picked up on the way home from the hospital. By the grace of God and her willingness to fight, Ruth is still with us today. She is a fighter, and we believe God made her that way to fight whatever odds, procedures, or expectancies the medical community gives us.

I asked Dr. Reddick a few more questions, and then that was all that I had. I wasn't sobbing; I wasn't showing much fear for the unknown. Dr. Reddick and Laura just kind of stared at me for an awkward moment of silence and I shared with them that I was truly okay. My husband and I were believers in Jesus Christ, and while no one wants this to be their life, we believed that God goes before us in all situations. We do not believe that He makes mistakes or spills a person during their creation. We do believe that Ruth has purpose to bring Him glory. As her parents, our purpose is to bring Him glory.

Shortly after this, I left and came home and explained everything to Kane. It was time to start opening up to people about what was going on. We had told some people, but not we had not put it on social media or blogged about anything yet. And if I'm going to be completely transparent, here's why we had not shared everything immediately from the beginning: I had a pretty hardcore "why me" moment at the onset of this journey. I was 28 years old when we found out something was different, which is well below the age 35 marker for genetic concern. I take care of myself and I workout and I eat well. There seems to be a pretty big baby boom of perfectly healthy moms and babies right now, so literally, God, WHY ME? I shared this with a deacon's wife at church, and she looked at me and said, "Why not you?" Oof. That shut me up and changed my attitude. This was not what I wanted to hear, but it was what I needed to hear. Why not me? Has God not equipped me, promised me, and spoken to me over and over and over again that He is in control?

I had a similar "why me" moment on the way home from Savannah. Actually, it went more like this:

"Why me, God? And why is Heterotaxy not more well known??? I already struggle with feeling forgotten, and I have already suffered through postpartum depression and anxiety, so why, God? Why did you feel the need to give me a child with so rare a syndrome that I literally have no one to talk to who can understand??"

To which the Holy Spirit immediately spoke back:

"Because it is not about your comfort, it's about My glory. How many other Heterotaxy parents know the Jesus who died for them? Know the God who created their child intentionally for good and not chaos? You're now in a small community of people who need to know that I love them, even when it seems like life is very hard."

Okay, Lord. Again, I was faced with a "why not me" attitude adjustment, and it was what I needed. So we got this diagnosis on June 7, and we began to blog about it on June 10. We chose specifically to do a blog so that, down the road, if a couple gets this diagnosis and does a google search, they may find our journey and be encouraged by God's providence, and have someone to reach out for fellowship. We have gotten comments and messages about our faith and strength during this time, and I can only reiterate that it is definitely not us. Everything in me wants to sit on the floor and wallow in the "why me." But it is only through Christ in me that I can say "why not me," and continue to trust His plan for our family. The song "Yet Not I, but Through Christ in Me" by CityAlight is one that has meant a lot to us over the last month (among others). I'll embed it below and also include the verse and refrain that mean that most to me, but it's truly our prayer! We pray that you do not see our own strength (because we have none), but the strength of Christ in us that makes us more than conquerors through Him. We still pray for continued healing on specific parts of Ruth's body, and unexplainable results on future scans. Please join us in those prayers.

The night is dark but I am not forsaken

For by my side, the Savior He will stay

I labor on in weakness and rejoicing

For in my need, His power is displayed

To this I hold, my Shepherd will defend me

Through the deepest valley He will lead

Oh the night has been won, and I shall overcome!

Yet not I, but through Christ in me