Rowan's Ripped Genes

The rollercoaster I so often refer to of this journey is filled with highs and lows. Yesterday was a bit of an unexpected low. You see, I walked into that hospital with Rowan KNOWING deep down what they were about to tell me, and I told myself, as well as the doctors that it didn’t matter to me. That an added diagnosis to his never ending list wouldn’t change WHO he was or really change the game plan for treatment much at all. Maybe an added therapy program, but what’s one more at this point? But yet somehow at the end of the two and half hour appointment, as the doctors handed me a million and one forms filled with evaluation summaries, an after visit care plan and a packet filled with reading materials my mood instantly shifted. And it wasn’t because of the diagnosis itself this time, it was the stigma associated with it. 

Autism Spectrum Disorder…

A few months ago when the doctors watched him play at an developmental appointment and so carefully and tactfully tried to ask us, “Has anyone ever brought up concerns of autism? We think it might be beneficial to do testing.”…my first question in response was, “What would be the value added?” With ASD there is no cure or treatment, they don’t even know a true cause. So the course of action is therapy…well as most of you know, Rowan is in just about every therapy known to man and has been since he was an infant. ABA therapy (Applied Behavioral Analysis) would be the only thing to add to our list. They believe this type of therapy could be very beneficial to Rowan but thanks to the red tape of insurance, requires a formal diagnosis. So we proceeded with testing on that premise alone. 

A two and a half hour appointment with two psychologists and a booklet of questions longer than the ACT for me to fill out….check.

A second two hour evaluation with another booklet and a speech and behavioral assessment…check. A few glasses of wine both of those nights…check. Now to wait for all teams to collaborate and come up with a determination one way or another…which brings us back to yesterday, the information sharing appointment. 

She started the visit out with…”So last time we met, we had brought up concerns for autism….how do you feel about a possible diagnosis?” Ok, spoiler alert…it’s almost comical how docs sometimes tiptoe around hard topics. Others are beyond blunt but never the ones who dabble in the realm of psychology. Almost everything is prefaced with a “how do you feel about…” Although, in the midst of those difficult conversations, I thoroughly enjoy the comedic relief I find in those words. So as you can guess, yes they did indeed give him a clinical diagnosis and it was unanimous. When I asked the severity or where he fell on the spectrum the tiptoeing resumed again…”well…it’s an ever changing target and will change with additional therapy and over time…”, then the attending physician jumped in to save the fellow with a clear cut answer of “moderate to severe”. The conversation then took a dive into the future and school options for autistic children and grants and scholarships, most of which we do not qualify for. And with all of that, brought this overwhelming sense of heaviness. 

See, a diagnosis does not define my son…not Coffin-Siris Syndrome, not autism, not global developmental delays. Those are all obstacles he battles daily but not who he is. This is something I have constantly said and instilled in him throughout this journey.  I would take away his medical struggles in a heartbeat if I could, but I would do absolutely nothing to alter who he is. So when he was suddenly being grouped into this bubble for options in the future, it bothered me and became heavy so quickly. It brought me back to the conversations I had had with friends and family over the past few months when explaining we were going through the testing process. When I would bring it up, the instant reaction from most everyone was “he can’t possibly have autism because…” They were trying to be encouraging and supportive but by negating the diagnosis before he even received it, it just reiterated the stigma around it. I found myself getting so angry and defensive and all they were trying to do was help. One of the most definitive characteristics is lack of interest in other people and Rowan is a bit of a social butterfly so I can understand where they were coming from, not knowing other signs or characteristics. Though still, it was eating at me.

So I came home and I poured a glass of wine as I looked over all the forms they had sent us home with. Assessment scores and charts jumping off the paper at me. Then after flipping through them as the words all started to blur, I gathered them up, placed them back in the envelope, and sat on the floor to play with Rowan. You know what I saw?….I saw a happy, smiling little boy. So fascinated by his surroundings and how each toy works and moves. A child who can communicate his every emotion so clearly without words who loves music and the outdoors. A child loved beyond measure and so uniquely and perfectly made. I saw Rowan….a person…not a diagnosis, not a statistic, not a medical record number or a case number.  A saw perfection in a tiny 25 lb., 34 1/2 inch package.  

I pondered writing this entry. I questioned sharing this news so soon or even at all because in the grand scheme of things it doesn’t really matter. But I am his voice and his advocate and as such, I find it necessary to do my best to break the stigma. To help the world see beyond every diagnosis. A very wise woman I have the pleasure of knowing and working with, often says “A diagnosis can be a part of you, or it can all of you. You get to decide.” Wow…how powerful is that statement? For Rowan, it’s just a part of him and his story. These resilient kids are going to change the world one day as they spread light and show us all how to overcome big obstacles. How lucky am I to have a front row seat?! 

When the world is full of chaos and fear of the unknown, don’t ever tempt the fates by asking if anything else could possibly go wrong—because it can, and it will! Rowan’s second eye surgery was done and over with. All of his appointments had been cancelled due to COVID-19 for the foreseeable future. We were a week and a half into the recovery phase and couldn’t be happier with the lift they achieved. Everything was seemingly calming down; despite the global pandemic we hadn’t yet had a chance to fully realize. *insert wrench here* We all know by now that life with Ro, is never that simple.

On Friday morning, March 20th to be exact, Rowan woke up with his entire eyelid red and swollen. It was warm to the touch and had what appeared to be a large abscess on the lid around three of his six incisions. He had been healing so well, what could have possibly gone wrong so quickly? Thankfully, we had been in daily contact with Rowan’s surgeon via text and sending photos to him throughout the healing process due to the complications he encountered during his initial procedure. We immediately sent him a few photos and voiced our concerns. He agreed it was likely an abscess and called in a script for antibiotics. He continued his daily calls to check in on him and make sure he was back on the right path—and for a couple days, we believed he was. The “fluid” we thought he had building up under the lid seemed to be going down, but the redness persisted. In addition to the redness, the scab on his inner eyebrow that covered the incision was rapidly growing. At first, we didn’t find that overly alarming because we encountered a similar experience with Rowan’s first eye surgery when he was just an infant. His skin has never taken well to dissolvable stitches and last time they burrowed out of the same location. However, it quickly took a disastorous turn for the worst when that scab started to be pushed away by whatever was burrowing its way out from underneath the skin this time.

Another series of photos were sent to his surgeon and within minutes of hitting send I received a phone call from his now very concerned doctor. “I believe that the actual cadaver tissue from the sling is what’s pushing through…” Ummm, excuse me, what?! Timeout. The next three hours following that phone call are a bit of a blur… Dr. Traboulsi quickly hung up the phone to get in touch with Dr. Hwang, the oculoplastic surgeon called in to assist two weeks prior. Within minutes we received a call back saying he needed emergency surgery to remove the material before the infection spread. They explained his body was rejecting the foreign material and they needed to reverse the procedure they had just done, immediately. My heart sank to my stomach and the lump in my throat was growing as I attempted not to have a nervous breakdown. As parents of a child with a rare disease, every choice we make is nothing more than an educated guess. Often, the doctors will divulge that they are unsure of outcomes regarding Rowan due to his atypical anatomy. So, when things like this happen, there is undeniable self-doubt.

In the midst of trying to process all this, we received a video call from the oculoplastic surgeon, and she agreed we had no time to waste. We made a few phone calls, threw together a suitcase, and loaded into the car bound for Cleveland. In the meantime, Ohio State Governor DeWine was holding his daily press conference where it was decided that Ohio would officially be locked down due to COVID-19. Great timing, eh? So, not only were we worried about another surgery in the midst of a pandemic… but within minutes of leaving our house, it was suddenly impossible to find an open hotel or place to stop and eat dinner—Cleveland is an approximate 4.5-hour drive from where we live. All of our typical go-to places were suddenly not an option and to make matters far worse we received YET ANOTHER phone call from Dr. Hwang: “I wanted to call and inform you that I was just notified only one parent will be able to accompany Rowan to surgery or at the hospital altogether. I’m so sorry.”

In that moment, I cannot even explain the wave of emotions that came flooding over me; fear, anxiety, anger, sadness… but, the best word I could use, is overwhelmed. Though, as always, we powered through and arrived at the hotel late at night after a long drive. We ordered food and ate cold Chinese in the dark after finally getting Rowan to sleep. We set an alarm for 4 a.m. and laid out our clothes—our usual pre-surgical routine. There was hardly any sleep to be had that night as anxiety set in. The next morning, we headed to The Cleveland Clinic as prepared as we possibly could be. We were greeted with temperature checks, sanitizing stations, a million questions, face masks… which, while this is now becoming the norm, then, it was just starting and our first experience with the new protocols. Cleveland was a hotspot for COVID-19 at the time, and we found ourselves in the city’s largest hospital—we were terrified to say the least, but what choice did we have? Thankfully, a very kind security guard let us both go back due to it being an emergency procedure. He has no idea how much that small, kind gesture meant to us. There was no going back to the OR with Rowan as usual to help him drift off to sleep. There were limited child life specialists on staff. And the kicker… Dr. Traboulsi, the doctor we have come to love and trust with Rowan’s care, was not allowed to be involved at all. The state mandated limited personnel in the surgical wing to cut down on COVID-19 exposure risks. Needless to say, it was an EXTREMELY long day! But, all-in-all, a good outcome. Rowan did once again struggle with anesthesia, but I will cover that in my next entry (a saga that’s deserved its very own post).

With the help of my mom and her good friend from college, we found an Airbnb to stay at over the next couple of nights until Rowan received the go-ahead to be discharged. We expected to return within three short months to discuss another surgery, but we have yet to return due to this pandemic and all of Rowan’s other procedures that have popped up since. Unfortunately, we can no longer do any more frontalis sling procedures due to the amount of scar tissue Rowan developed from these past three eye surgeries. They are also hesitant to use a silicone rod since his body rejected cadaver tissue. We will find out more when we finally make it back to Cleveland to discuss with Rowan’s Care Team—hopefully sooner than later.

It’s crazy to me that in the beginning of March we thought this pandemic had thrown a wrench in our plans. Now here we are at the beginning of September still doing temperature checks and sanitization stations with a million questions and a mask. Procedures and appointments cancelled and rescheduled more times than I can count. Teleheath appointments that have made me a proficient Zoom user. Teams, Jabber, and FaceTime also now mastered… We see our families through a screen and are careful not to travel outside the TriState area before a procedure. We have missed so many medical issues due to cancelled routine screens. I don’t know when this will all end and that is part of why this entry has taken months to complete. Now we have had a few of these experiences and are about to have yet another surgery in the midst of a pandemic. 2020 will for sure be a year to remember… Until next time!

A big part of being a Medical Mama is being your child’s advocate. However, sometimes we forget to advocate for ourselves. I’d like to start this entry by saying thank you for your prayers, your kind words, and your support… But I’d like to use this platform to educate you on how some of these “kind” sentiments, frankly, don’t translate as kind—they hurt.

First, I’d like to set the record straight; my child isn’t sick. He’s not battling cancer or juvenile diabetes or a case of the measles. While he certainly has a full plate of medical conditions, most of Rowan’s obstacles are related directly to his genetics—his Coffin-Siris Syndrome. What does this mean? Well, like everyone’s DNA, Rowan’s genes are unique to him. There is no cure. There is no medicine. There is no by-the-book step-by-step treatment plan. Because this isn’t a disease, it’s a syndrome, and he will have it his entire life.

With that said, here’s where the “hurt” comes in… Saying things like “I’m so sorry” or “I don’t know how you do it” or “I could never do what you’re doing” aren’t helpful. I know you mean them to be, but they just aren’t. For example, what do you mean couldn’t do what I do? Of course you could! And likely would. Because when you become a parent you agree to do anything and everything for YOUR child. It’s what parents do, they love their children fiercely and unconditionally and support them through whatever life throws their way. I am so lucky to be this boy’s mama. He has taught me patience, resilience, and how to have a voice to advocate for him as well as for others. He’s taught me how to smile on the bad days and rejoice in the good ones. He has taught me how to love in a way I never knew I could. We all could learn so much from the innocence of a child. But it’s not like we have a choice. Do I enjoy being faced with heavy medical decisions or researching every diagnosis more in depth than most doctors? Do I enjoy the stress, anxiety, or sleepless nights prior to every sedation or procedure? Of course not. But it’s not a choice, I do it because I HAVE to do it. So please, don’t tell me you couldn’t do it, or say you’re sorry for me. You could do it, and there’s nothing to be sorry for—have you met Rowan?! He’s an awesome kid!!

I don’t want to belabor this post, so I’ll move on to my final thought, or plea really… Please, please, please STOP arguing with the diagnosis or treatment plan! Let me say this louder for those in the back: “WE HAVE A TOP NOTCH CARE TEAM THAT WE TRUST TO BOTH DIAGNOSE OUR SON AND DEVELOP A CARE PLAN FOR HIM.” When a child, or anyone for that matter, is given a diagnosis, I assure you it was not something just thrown out there or taken lightly. There were tests involved and research, observation, and discussion. So, when someone tells you about said diagnosis, whatever it may be, the worst response you can have is to try and refute it or to state all of the reasons it can’t be so. What that says to me is, “I don’t accept it.” I urge you to let that sink in for a moment and really think about it. This response is usually meant to be supportive, but simply put, it isn’t. Maybe next time
ask, “what were the indicators?” or better yet, “how can I support you?” At the end of the day, as a parent, seeking a diagnosis is important for insurance coverage, care plans, or sometimes even grants and monetary aid for those families in need. So, I’ll say it one more time, please don’t refute the diagnosis or treatment plan. Just be supportive.

I don’t say these things to be hurtful, or attack anyone. Dereck and I truly do appreciate all of the support and prayers and well wishes. My hope is to change your perspective to see things from my point-of-view. Be inclusive and accepting. Be understanding. Be considerate with your words. We are all unique and different in our own ways, and that’s what makes this world so beautiful. Be kind.

By: Dereck Sammons (A Dad’s Perspective)

As I hugged my son one last time, before Tiffany carried him back to the OR to assist with his sedation for his second eye surgery, I found myself pausing and just starring up at the ceiling asking God to watch over our little man…pleading for Him to make everything go smoothly. I sat in that PACU alone, for the longest 15 minutes of my life, waiting on my wife to return and tell me everything was okay, and that Rowan did great. It’s hard to describe all of the thoughts and emotions that were swimming through my head. Questions like, “Will Rowan be okay with this new form of anesthesia? How will Tiffany cope with having to hold him down through such a traumatizing event?” Varying emotions weaved in between the questions, in particularly, frustration. Being unable to be there for my son and wife in that moment was beyond frustrating. So, when Tiffany finally came back into the PACU, and after she took off her “hazmat” suit, she instantly fell into my arms and cried on my chest as I simultaneously cried on her shoulder. This to me is what pure, raw emotion would look like if it were caught on camera.

We proceeded to the waiting room and grabbed some snacks as we prepared to settle in for our long wait. It’s agonizing waiting for a plastic pager to go off to provide you an update on your son’s surgical status, but we’ve learned to distract ourselves as best we can. So, we played connect four in an effort to keep our minds busy and from going over a list of worst-case scenarios. Forty-five minutes soon turned into an hour. An hour to 90-minutes. Then, 90-minutes crept closer to two hours and two hours to two and half hours…At this point, we were no longer capable of distracting ourselves and panic set in. What was happening in that OR room? We continued our wait trying so hard to remain strong for the other.

Rowan’s surgeon, Dr. Traboulsi, finally surfaced from the OR and said, “Let’s have a seat.” Instantly, my heart dropped to the pit of my stomach. He proceeded to say that the surgery was ultimately a success, however, there was a lot more scar tissue than anticipated so an oculoplastic surgeon was brought in to assist. He finished up the conversation saying we would be able to see our son soon. Relief quickly overcame us and pushed away the panic!

Knowing Rowan was in recovery, and we’d soon get to see him, Tiffany decided to run a quick errand inside the hospital. With as many trips as we make to The Cleveland Clinic, we saw a flyer for a bundle parking deal, so she went to ask the receptionist for more details. In the three minutes she was gone, Dr. Traboulsi came back out…He told me Ro wasn’t coming out of anesthesia like he should be, and his oxygen levels were in the low seventies. At this time, Tiffany came around the corner and began to run down the ramp–she could tell from the look on my face something wasn’t right. Helplessness now replaced the temporary relief we had felt as we began the waiting game all over again. Another forty-five minutes went by before we were finally able to see our little warrior–and what we saw broke our hearts. There Rowan laid, covered in leads and monitors with an oxygen mask around his face. As a dad, this was easily the hardest thing I have ever seen. It took everything I had to not breakdown on the spot and to continue to be strong for my wife. We placed our hands on our son’s back and just prayed that he would be okay. We sat in that PACU for what felt like a lifetime but, in reality was a little over four hours, and were inevitably admitted into the intermediate pediatric ICU. 

After we got Rowan somewhat situated, I reluctantly left my family to go pack and check out of our hotel. I somehow managed to rearrange all of Rowan’s toys and allergen friendly foods and drinks into our small suitcase to bring back to his hospital room with me. This time gone was unexplainably stressful. I felt like I was rushing to beat the clock before a doctor came to provide an update or something else unexpected happened. But, when I finally made it back, Rowan was awake! However, he was desperately trying to pull off every lead and IV that was attached to him (all he wanted to do was walk and play). Needless to say, keeping a two-and-a-half-year-old confined for twenty-four hours was damn near impossible.

So, what is the emotional toll this has taken on me? Well, to be honest, it really shook me up! But I’ve gained an even bigger appreciation and admiration for what Tiffany does for Rowan on a day-to-day basis. It showed me that even with every ounce of adversity that is thrown Ro’s way, he’ll tackle it with a smile on his face and his infectious new laugh. It showed me that there are much bigger things in life than work and money. This has given me a newfound appreciation for my little family, and I would NOT trade a single day on this journey with them. Everything we have been through, even when shit hits the fan, is easier to overcome when we are together. I am TRULY blessed to have my wife and son to conquer this crazy world with each and every single day.

There are some aspects of this journey I will never get used to and surgery and sedations will always be at the top of that list. They just plain suck with a capital S. With Rowan being MH reactive and not being able to have the gasses that allow you to drift off to sleep calmly before “the show starts” it complicates everything…especially this Mama’s emotions. So let’s dive into this horrific saga of Rowan’s second eye surgery, shall we?…

Hardly any sleep the night before if any…waking up to that insanely early alarm clock going off as a last ditch effort to get him to drink some clear liquids before he couldn’t for hours…that knot in the pit of my stomach getting worse by the second that makes you nauseous…the anxiety and anticipation building as we get around and head out the hotel doors on the way to The Cleveland Clinic…ya know, all the usual feelings…

I loaded him into his car seat holding back the tears and we drove to the hospital. A ten minute drive that seemed never ending with constant reassuring, “it’s ok buddy…” I think those words were more for me than him in that moment if I’m being honest. We arrived and handed our keys to the valet and began our now familiar walk to desk P20 on the second floor. We checked in and signed consents. Then the initial start to the waiting game began. About twenty minutes later they announced our name which instructed us we could then move down to desk M20…the actual surgical waiting room outside the PACU. Before Rowan could even get down to play with all the toys they had awaiting him there, it was time.

As I carried him back to pre-op I searched for familiar faces from last time scanning the hall for his surgeon and anesthesiologist. As we went over all the monotonous questions of recent travel, medical history and allergens I kindly reminded them of his MH reactive status. Something I had been sure to mention several times throughout appointments and scheduling after the last sedation disaster. Well shocker….it once again was not flagged in his chart and his care team was unaware. Here we go again….so the nurse began to explain to me that they would place the IV after he drifted off to sleep from the gas mask…I could continue to play this scenario out but those of you who have read my previous posts all know how this goes. So the next hour was filled with huddles and questions and the chaos of having to re-prep the OR, flushing all the lines and locking up medications to avoid any mistakes. Then finally the anesthesiologist came in. “I know this family!” she exclaimed…finally a familiar face, Dr. Pilar Castro. She was not his anesthesiologist for his first surgery however, she was the one who did his initial consult. One of the most caring souls I have ever met. We have a picture of her with Rowan as an infant. Suddenly our minds were somewhat at ease. Our little man was in good hands.

Next Dr. Traboulsi came into the room, another very familiar face. The infamous surgeon and ophthalmologist we have seen since Rowan was just five months old. Together they collaborated a game plan and things began to move so quickly from there. They decided intubating him would be the safest option given his extensive medical history. Then they decided on a “cocktail” of versed, nitrous, and propofol. They had me give him that syringe full of pink liquid (versed) to get things started and asked which one of us would be joining them in the OR. Ugh…this is one of those tough decisions parents should never have to make. First off, it’s something we both wanted to do yet didn’t want to do at all. All parents want to be there for their child in tough, scary times yet believe me…no parent wants to witness or experience that. Ultimately we decided I would go. So I suited up and followed the team down that long hallway to the OR clinging Rowan tight against my chest. We approached the room and his team headed in with the exception of his surgeon and the two of us. He tied the mask around my face and we followed behind.

This next part is hard to type because in order to write it, I must relive it. I laid him on the table surrounded by people. I did my best to mentally compartmentalize, something I’ve never been good at. I’m not a stranger to the OR. I mean, prior to Rowan I worked for three surgeons. Let me just tell you…it is sooo different when your child is the one on that table. The versed was finally starting to kick in, he was getting loopy. Next they started the nitrous mask. His face turned purple and I could see in his eyes he was scared and trying to fight it but his reflexes were slowly vanishing. It was paralyzing his ability to move. I quickly traded places with a child life specialist to be better positioned in his line of sight. I asked “Is this normal?” far too many times as I watched this all unfold. His chest retracting, his face turning colors, the inability to move…all very normal but so hard to witness. But I remained calm and collected knowing I needed to be Rowan’s rock in that moment–the calm to his storm. The anesthesiologist assured me he wouldn’t remember any of this with the versed so I was quick to ask for a dose as well. She laughed but my request was quickly denied. Now that the nitrous was taking effect it was time to find an IV site. They prepared me for the worst with the numbing agent. “This will be loud and it will sound like a rocket but it won’t hurt him,” she kept saying, but honestly that part was nothing–so much better than they made it out to be. First attempt failed…Rowan is and always has been a hard stick. Time for another rocket and another attempt. He was still trying to move and pull away but his body wouldn’t allow him to effectively at this point. As Dr. Castro tied off his arm to try another vein, a nurse (I assumed at the time) stumbled into the nurse anesthetist. ” Woah, be careful” she said…then it happened again. “Are you ok??,” she asked. Then almost in slow motion she replied “I feel funny…” as she fell right into her as well as the machine providing the nitrous. I fully understand things happen, I do. However in that moment I was beyond frustrated with this girl. Maybe she didn’t eat, maybe she couldn’t handle the site of a toddler on that table, maybe the bright lights of the OR just got to her. I later found out she was a student observing and I am fairly certain she should find a new field but I was thankful she didn’t do it five to ten minutes later when there was a scalpel to our son’s face. The child life specialists kept asking if I was ok as my eyes fixated on her going down. I was fine but she was not. His anesthesiologist was inserting the needle as this played out and thankfully despite this event, she was successful. His surgeon at this point was now tending to this student who was still disoriented. He then traded places with the anesthesiologist and I was assured she would be moved before they began. They were now ready to begin. I along with the two child life specialist exited the OR after Dr.Traboulsi thanked me for being involved. “Not too often do we get to experience having a parent in the OR, you did great…thank you. I will take good care of him, I promise.” Then out I went still composed right up until those doors closed behind me. Then I lost it…so many emotions came streaming down my face in that moment. Time to find Dereck and collect myself while the true waiting game began…

There he was in that empty PACU bay dealing with his own emotions (we will get to his point of view later). I unsuited, lost it all over again as I could see the tears welled up in Dereck’s eyes as well. Then we finally grabbed Rowan’s things and headed to the waiting room for what we hoped would just be forty-five minutes to an hour. Three cups of crappy coffee, endless pacing, and many rounds of connect four later I was starting to panic. It had been an hour and a half…what was taking so long?! Dereck tried to assure me this happened last time but that wasn’t comforting because the delay last time came from countless failed IV attempts…I was there for all that. I knew that wasn’t the hold up. Then the texts began to flood in…”Is he out yet, how did it go?!” The more time that passed, the more texts and calls we received–the more the panic started to grow. Maybe our pager was broken…that would make sense right?!…So Dereck disappeared to go check with the desk…not the case. At this point, two and a half hours had passed for what was supposed to be a forty-five minute procedure. Then finally we received a message on the pager that they were wrapping up and Dr. Traboulsi would be out soon to speak with us. Phew! We could finally breathe…for a moment anyways.

About fifteen more minutes passed and our night in white surgical scrubs came out from around the corner. He had half a smile which was a reassuring sign. “You’re smiling, does that mean good news?” I asked. “Let’s sit down somewhere…” a phrase no parent wants to hear in response. So we did. We found a corner of the waiting room and adjusted chairs to face him. “There were some complications…Rowan had far more scar tissue from the previous surgery than we anticipated. His anatomy inside the eye is also not that of a ‘typical’ child. I completed the procedure and everything was going great…then I went to burry the knots on both sides of the sling, and they wouldn’t stay tucked. I didn’t want to tug or keep trying so for the first time in thirty-five years I called in an oculoplastic surgeon to assist.” My curiosity peaked at this point as I was trying to take this all in, “Did it happen to be Dr. Hwang?”. Indeed it was…this is the surgeon we had originally requested in the beginning of our search but she did not typically deal with pediatrics so we were sent to Dr. Traboulsi and are so glad we found him. Though I was somehow comforted by the fact I knew she had an impressive resume. He went on to explain that she was able to burry the knots effectively and they closed him up. Another brief euphoric moment that was abrupt by the news that followed…”We won’t be able to do this procedure again”, he said. For those of you who don’t know, we have prepared ourselves for the fact that Rowan would need this procedure repeated several times throughout life due to the severity of his ptosis and his face constantly growing and changing shape. Now what?!?! He explained there is just too much scar tissue and hopefully this would hold for as long as possible. We would discuss other options down the line when we crossed that bridge. He went on to say that he pulled the sling as tight as possible this time to get an optimal lift. Though we wouldn’t know how effective it was until they removed the stitch in office at this follow up appointment the next morning (They stitch the eye shut overnight to allow it to begin to heal). Ok…so yes we had just gotten hit with a ton of bricks however, they successfully completed the procedure. “Can we see him then?!” is about all I could get out of my mouth in that moment. “They are waking him up now and will page you shortly.”

Fantastic news! However the minutes following that exchange kept adding up and still no page. I ran up the ramp to ask the lady at the desk a question about parking and my anxiety ramped back up in full force when I saw Dr. Traboulsi sitting with Dereck motioning for me to come back down. Never, ever a good sign…he explained that when they extubated Rowan his oxygen levels plummeted and they were having a hard time getting him to stabilize. There were a lot of scenarios that had played out in my head approaching this surgery and this certainly was not one of them. It’s amazing how quickly all of those major concerns I had fifteen minutes prior just vanished in the blink of an eye when we found out our little man wasn’t able to breathe on his own. I cannot even begin to effectively explain the emotions that came flooding over us in that moment, but I pray none of you reading ever have to experience them.

Another half an hour or so passed and we finally got the page that we could see him. We raced to his room where we found him laying in a crib, still completely knocked out and on eight liters of oxygen at that point. Definitely not our spunky little boy crying and ripping out cords like usual. The next five hours were filled with him very slowly coming out of the effects of anesthesia and weaning off of oxygen. It was emotionally draining. At one point, his nurse disappeared and came back with both arms full of snacks and drinks. She looked at me and said “Honey, I know you haven’t eaten today…I’ve got him for a moment. Eat, you’re shaking.” Those nurses are hard to find. Shortly after that we attempted room air but he continued to desat. We had already given him steroids but nothing seemed to be working for more than short stints. That’s when Dr. Castro came back in. She decided at that time he needed to be admitted (this was supposed to be a same day surgery–two to three hours in the PACU tops). The hospitalist then decided moments later that he needed to be followed by the PICU not just on a general nursing floor. Eventually he was given albuterol treatments which were our saving grace then we were transferred to the floor.

We spent the night in the ICU with very little sleep between his rounds every two hours and the incessant beeping of his oxygen monitor with constant desats…Not to mention the five leads of a heart monitor, BP cuff on one ankle, pulse ox on the opposite foot, IV in the arm complete with arm board and sock cover, and finally a patch over his eye. That’s enough to make any toddler lose their mind. Then we irritated him just a little more with a chest x-ray which thankfully ruled out infection in his lungs but this is Rowan we are talking about and as you all know there is always an incidental finding with any test of his…in this case it was an enlarged heart.

The next day we obviously missed his follow up appointment, but thankfully we received an early morning call from his surgeon. He offered to see him in the hospital after morning clinic to remove the stich holding his eye shut. Only problem was he ripped the patch off five times leading up to that happening. It was a very trying day but thankfully we were discharged that afternoon to finally come home. We still don’t know what caused his breathing complications or enlarged heart but we know his heart is now back down to normal size and he likely has a narrow airway as well as sleep apnea. However, all of the testing to follow up with these concerns have been cancelled until further notice due to COVID-19. This saga is far from finished but props to you if you have read this far. Another post will be coming soon so stay tuned.

I have been hesitant to voice my opinions on this whole COVID-19 pandemic but the more I think about it…I have this platform so why not use it to advocate for those who can’t, the vulnerable. Y’all I get it…we are ALL bored out of our minds. We ALL want our lives to return to some sort of normalcy but here’s the thing, the sooner we all adhere to what is being advised, the quicker that can and will happen.

Things I’ve heard so far….”You’re the problem with America”, “It’s just a cold”, “We have never done this for the flu and it has killed so many more”, “This is just a political scheme”, “This is ridiculous…what about all my bills?”….Guys, I get it! But let’s go over some facts shall we?….First off, can we stop hating each other when we disagree with one another?!?! I mean honestly, that is the actual problem with our country as a whole these days. And to most, about 80% of people it is just a really bad cold or flu…but to the vulnerable it can be life threatening. So for once, can we all just be considerate?! Because your “ONLY” is my “EVERYTHING”. The flu has killed many more but here’s the thing about that, COVID-19 is TWICE as contagious and TWENTY times more deadly. As for politics, I’m not getting into that discussion today, or anytime soon for that matter. And for those of you suffering financially, I totally understand your concerns and frustrations. But that is another reason to be considerate and cautious now so we can all get back on with life sooner rather than later. And this is a time we all need to lean on one another for support. Guys, check on your friends and family. Everyone is being affected differently. Support your small businesses, check on your healthcare workers and first responders, your pregnant friends, elderly and transportation workers. Be there for one another. I mean isn’t that all relationships really are?! Being there for one another when they need you most? (yep, totally stole that from That Awkward Moment–but it’s the truth)

Back to my point of writing this in the first place…the vulnerable (those of you who know me personally know I struggle with staying on topic). So who encompasses this twenty percent? The elderly, those with pre-existing conditions, diabetics, people with kidney diseases, the immunocompromised, pregnant women and unborn babies, and newest to the list–children under five. Y’all our son hits half that damn list! But he’s spunky and resilient so “he’ll be fine, don’t buy into the hype”….Let’s talk about Rowan specifically just regarding this. He is up to 31 diagnosis’ that all fall under his CSS diagnosis. So just regarding this specific virus…He obviously has a pre-existing condition. He has kidney issues on the left side. He is super prone to respiratory virus’ of all things. He is under five and has pulmonary issues…several pulmonary issues. Not only that but he has something called hypotonia along with laryngomalacia which basically means his muscle tone prevents him from coughing up secretions making it insanely hard to fight common colds and respiratory virus, yet alone the motherload of one.

I have not left this house for a week now (aside from a quick chest x-ray to check on a serious cardiac concern for Rowan) since I took him to therapy for the last time til at least May 9th. Cincinnati Children’s Hospital is thankfully taking all necessary precautions to keep our kiddos safe. And guys, I’m losing my ever loving mind! I miss social interaction something fierce. As a stay at home mama I already don’t get much of it as it is. But it’s what we have to do to keep Rowan safe and I’m begging y’all to be considerate of these situations instead of being stuck in a state of mind only worrying about how bored you are or how “you’d be fine.”

Most of you who have followed our journey know that ever since I had Rowan, I’ve had some crazy anxiety. It has definitely calmed down over time but in times like this, it’s cranked on high. I hear the words “only the vulnerable” and I see so many tiny faces. I see Rowan, Kruze, Colton, and Ryan. I see Ruby, Hensley, Jilly, Cohen, King, Kolton, Theo, and Kayenne. I hear the fear and frustration in their parent’s voices when we talk each other through this crazy time. So please just stop and think before you go out unnecessarily because you feel inconvenienced or annoyed. Please consider all the facts for our special needs, “medically complex” kiddos. They are our whole world.

Just when we feel like life is finally starting to slow down, like we can actually catch our breath…. BAM! Life throws us a, “ha, just kidding!” back in our faces. It’s that time of year again, folks–a new year ushering in new challenges, celebrations, deductibles, test results, emotions, surgeries, or simply put, the full gambit that comes with a special needs child. But something is different this year. I’m starting to “get used to” or become “accustomed to” what a new year truly means for my family. I’d love to tell you this newfound normalcy helps my anxiety subside, and to some degree it does, but it’s never far away, luring me back into its cold, unsympathetic clutches.

Getting used to this way of life is something I never imagined I could withstand–holding my son down for IVs and blood draws, pacing in a waiting room for hours on end staring at a board waiting for one single line of digits to change colors, learning how to use MyChart better than the hospital’s IT department, and understanding medical terminology and diagnosis descriptions like the back-of-my-hand. But, that’s where I’m at and I have to be OK with that in order to be the best mama I can for Rowan.

The most frustrating part of our situation is I felt like we were over the hump. I mean, Ro’s walking (and running!) now and surpassing milestones we never knew if he would be capable of doing–to which we have therapy to thank! Therapy has been a HUGE part of our life for so long now it’s become second nature, like brushing our teeth. And then there’s the testing. He’s been tested for so many things now that I thought we were out of things to check-off the list. I predicted we were in this new stage of life–annual follow-ups and progression tracking tests. Needless to say, that “prediction” was more inaccurate than that of an 1-800 Psychic. But I suppose that’s the way life goes–unpredictable. I guess I should know this by now, but apparently my optimism hasn’t completely abandoned me. So, allow me to update you on our most current plot twist…

Last month Rowan had an orthopedic follow up–no biggie. We do this every four-months accompanied by x-rays. Recently we had noticed, along with his Physical Therapist, that his scoliosis (curvature of the spine) was starting to look worse. We thought it was largely due to his balance issues and how he holds himself to walk, but quickly learned that wasn’t the case. His latest x-rays showed an aggressive progression in his scoliosis. His spine has progressed seven degrees in ten short months, placing him at the high end of the moderate scale and creeping towards severe.

You know, I’ve come to learn it is never a good sign when a Specialist skips the Fellow or Resident solo consult and just brings them in at the same time as him. That’s the moment we know our son is about to be integral in a teaching moment–how to give a family bad news 101. Yet another thing I’ve picked up on is reading each of his Doctor’s habits and quirks to prepare myself for what I’m about to hear.

His Spinal Specialist is world renown and has been doing this a VERY LONG time. He knows his stuff and is very conservative with his care plans. So, when he walked in and sat down (which he NEVER does) and says, “it’s time to brace,” it’s a bit of a gut check and completely knocked the wind out of me. Said brace is called a TLSO (thoracolumbosacral orthosis). It’s listed as “a removable body cast” on the website for the orthotic clinic we were sent to. Rowan is required to wear it for–y’all ready for this–18-22 hours a day! Yes, you read that correctly and yes, that includes while sleeping. As if that wasn’t enough news to wrap our brains around in the moment, he continued with: “Your son has a syndrome we know very little about. If he were an adolescent and this was idiopathic (a big word that means no known cause) scoliosis I could tell you exactly how this would play out, but he’s two and it’s neuromuscular. Kids under ten is a whole different beast and your son’s started in infancy. I don’t want to tell you we are flying by the seat of our pants here, but we kind of are. This brace will not correct his curvature but will hopefully stall the progression. And if it doesn’t, we move onto a Mehta cast (a real body cast). And if that doesn’t work, we discuss magic rods at that point (major spinal surgery).” FAN-FREAKING-TASTIC…But wait for it, it didn’t end there. They also found what is known as a butterfly-vertebrae, which is a vertebra near the top of the sternum that didn’t fuse together and doesn’t match up with the other vertebra. Apparently by itself it’s not a huge concern but, accompanied by a syndrome and scoliosis it’s grounds for a total spine MRI to check the spinal fluid and cord for problems. Which brings us to our latest adventure.

As most of you know, Rowan never stops moving and requires very little sleep resulting in MRIs requiring sedation or anesthesia. We were under the impression they were using general anesthesia after the nurse had called two days prior to go over diet restrictions and instructions. Before I hung up the phone, I asked what type of anesthesia we would be using–really just with the intent of finding out if they were using Nembutal (an oral sedation) or IV anesthesia. The nurse answered my question with, “We will put a gas mask on him first to…,” which is when I abruptly cut her off. Rowan is a MH reactive patient, meaning those simple gasses they use in surgery could kill him–and no, that is NOT an exaggeration! So obviously, it’s not something Dereck or I take lightly. The nurse continued by informing me his MH reaction wasn’t flagged in his chart–which is odd considering he was diagnosed over a year ago–so naturally the conversation started to deteriorate. Though I realize mistakes happen, that is one that could have ended in the unfathomable. Nonetheless, we got past the life-ending oversight and were given the option to use an oral sedation. There are several pros and cons to both types of sedation, but the ultimate deciding factor was the Vascular Access Team (VAT) wanted to strap our little man to the bed in order to place the IV. This Mama Bear would have needed a Psychiatrist after witnessing that, so we opted for the oral option–which we would later live to regret. In the hours following his sedation, Ro couldn’t walk for the next twelve hours and was extremely irritable–but hey, at least we will know for next time (insert silver lining here). They assured us we would receive results within 48 hours, but it wasn’t until the 75th hour, and three phone calls later, that we finally got the results. As always with reports, it was written in what seemed like a foreign language, but after a few hours on Google, I got somewhat of an idea of the findings. However, when I eagerly called his Specialist to go over the report and ask my five-million-and-two questions, I was informed he was in India until the following week (which for those of you reading along is an 11-hour time difference). Sigh.

The following week we were off to Rowan’s brace fitting. Unfortunately, Dereck was unable to attend since he had just missed work for an MRI the prior day, so thank goodness for great friends and compassionate nurses. Holding your toddler down to have a plaster mold made is heartbreaking–but with the nurse’s help, and friends who take you out for a drink afterwards, it was bearable. I am definitely not looking forward to repeating this process each time he grows, but thankfully in our case, he grows slowly.

We have a million appointments and tests around the corner and hope we will have good news in store to share soon–ophthalmology and neuromuscular and gastrointestinal, oh my! Life is a journey, especially with our amazing little man. I’d be lying if I said it was easy, but his determination and resilience can and will teach us all so much about overcoming life’s obstacles. So, as I embrace this Medical Mama title I’ve been given, my hope is he crushes all the obstacles lying in wait for him this year just as he’s always done!

“When are you guys going to have a second baby?” If I had a dime for every time I’ve been asked this question… let’s just say money would no longer be an issue.

Can we just talk about the absurdity of this question for one second? As most people in our lives are well aware, our son Rowan has N-I-N-E-T-E-E-N different specialists. That’s in addition to 2-hour therapy sessions twice a week, biweekly in-home therapy sessions, routine lab work and radiology scans, plus we are adding feeding therapy back into the mix. Not-to-mention, he’s non-verbal, has muscle fatigue and hypotonia, and hypermobility coupled with insomnia. Should I continue? Because these are just the tip of the iceberg hovering above the crest of the surface.

Most people would never know the half of Rowan’s struggles. There has quite literally never been a better representative for the word RESILIENT than our son. He has overcome every obstacle life has thrown his way–with a smile on his face. He is a happy boy who shows so much love and affection for everyone that crosses his path. God has truly blessed us in so many ways with him. However, the obstacles Rowan has overcome came with the support of a village. He started therapy at just four months old. My husband and I do at-home exercises with him daily. We have learned to communicate without words while still working on speech sounds and sign language. Rowan has a strong desire to be independent and it has gotten him incredibly far. I mean, ya’ll, he’s WALKING! We swell with pride and the world’s largest smiles at that achievement. Not so long ago, we were told that wouldn’t be a possibility until Rowan was at least 4-years old. Now look at him go!

Throughout this journey, I have gained so many titles; Mama (my personal favorite), stay-at-home parent, advocate, blogger, special needs mom–just to name a few–but all of which bring purpose to why I started down the nursing career path fresh out of high school. Rowan goes full throttle when he’s awake, which most of the time is 18-hours a day. He loves his newfound freedom that being mobile provides him, and he utilizes it to the fullest to make up for lost time! Which in turn means he requires ALL of my attention ALL of the time. For example, Rowan’s hypotonia leads to muscle fatigue which then causes him to have stability issues and subsequently leads to falling accidents. Plus, he is an ornery red head like his mama, meaning I can’t take my eyes off him for one second without some sort of catastrophe!

So, back to the question at hand…”When are you guys going to have a second baby?” I can tearfully answer with, “we want another child so badly it hurts, but we have to realistically consider the possibility that it may not be in our future.” Rowan would be an awesome big brother. Not to mention, I would love him having a sibling to look out for him, especially when they would be school aged. I can’t imagine life without my siblings, nor can Dereck. So, I hope people understand, for us, this isn’t a decision we take lightly…it heavily weighs on our hearts.

Let’s talk reality. Having a second child comes with unknowns and an array of genetic percentage outcomes. It means rigorous testing and the label of “high risk pregnancy.” It comes with twice as many appointments and scans. It comes with tears, anxiety, and fear. It comes with insurmountable costs we cannot fathom affording. And ultimately, it comes with the question of, “how would we care for a newborn in addition to a toddler with unique 24-hour needs?”

This is a conversation that Dereck and I have just recently began to scratch the surface of. It is something we have both been avoiding–too scared to speak our thoughts out loud–and that always ends with tears and emotional scars. It wasn’t until the night we both finally admitted to each other how it changed our relationship with God, that we began to get somewhere…We went from questioning to hurting to being angry to confused and now intrigued. We never wondered “Why us?” but rather, “Why our son?” Why does Rowan have to work so hard for things that should come easy to a child his age? Why does he have to spend the majority of his time at specialist appointments and therapy sessions instead of at the playground?

It wasn’t until the first time we attended an event for special needs children that we began to understand just how lucky we truly are. If you ever get a chance to attend one, I urge you to do so–it will very quickly put your life into perspective! Our first event was where Rowan received his gait trainer (walker), and within seconds, I could see our son was the most mobile one there, and at the time, he couldn’t walk of his own volition. We were definitely humbled by that event and forever thankful for the experience. Now we have come from “Why our son?” to an overwhelming feeling of intrigue. God chose us to raise this amazing little boy, who is defying all the odds, and we are in awe as to why he chose us. It’s been a long two-year journey for our eyes to be open to God’s plan, and we’re happy to finally be here–we are a truly blessed family.

There is undoubtedly a grieving process that comes with having a child with any sort of disorder or disease, or for lack-of-a-better word, “abnormality.” As a society, we’re all too familiar with the 5 stages of grief: denial, anger, bargaining, depression, and then finally the sweet relief of acceptance. In the beginning, it is so easy to deny there is something wrong. We chalked it up to prematurity, “Oh, he’s just catching up,” we would say to ourselves. But, as time went on, deep down we knew we were lying to ourselves. Afterall, he was only 4-weeks early. Then the secondary diagnoses piled up with still no true answers or plan of care and anger set in. Next the WES test blood samples were sent out and we began to bargain with God. Pleading with Him that we could handle anything as long as it wasn’t progressive or attached to a shortened life expectancy. Then, we finally received THE diagnosis. Now it was real, it was confirmed, and depression set in. We circled through all five stages over and over and over again until one day, we truly found acceptance. I’d be lying if I said there aren’t still days, and even sometimes weeks that turn into months, that the stages re-start again, but they have begun to lessen over time.

It somewhat amazes me how many healthy, neurotypical children are born each and every day. There are so many factors that have to go just right in order for that to happen. Factors far beyond our control. I want to experience pregnancy again someday because it was truly an amazing, miraculous journey. However, I know I could never enjoy it in the same way as I did with Rowan. We didn’t have any indication that something was wrong until the day I was rushed to the hospital for an emergency induction. I enjoyed my pregnancy without the crippling fear I would have a second time around. And adoption… who can afford adoption these days?! Fostering could negate the cost but how many children would come in and out of Rowan’s life before one child found their forever home with us? As those of you close to us know, we have dealt with the system once before in attempts to get an amazing little boy out of a terrible situation and he was eventually placed back with his biological family. That’s a separate emotional rollercoaster in and of itself. We aren’t fearful to have another child like Rowan. We would be so blessed to have another child with half of his determination and love. But we now know we have a chance of having a child with a progressive muscle disease and CSS has a five-page list of symptoms that are associated and all range in severity. Not to mention the fact that we’re already seeing 19 specialists. Can you imagine that for two children?

Basically, my point is this, it’s not an easy decision for us so please be kind and respectful of that. We know that people mean no harm when they ask and are ultimately just excited at the possibility but it’s a very loaded question in our case. We definitely haven’t ruled it out, but we aren’t ready for another right now either. At the end of the day, God will lead us in the right direction in His timing.

So, all I ask is this, before you ask someone when baby number two is coming, please consider their circumstances and all of the emotions you may be unleashing once you’ve walked away. And always ask yourself, is this a polite question to ask? Is this any of my business?

March 2019

Have you ever really thought about how long six-months is? I have. Six-months is equivalent to 182 days, 4,380 hours, or 262,800 minutes. In other words, an eternity when you’re waiting on your child’s test results. But, that’s how long we were told Rowan’s whole exome genetic sequencing would take, so the daunting countdown to May 29th began.

On March 20^th, I received a notification saying Rowan had test results available in his MyChart account. Strange…he hadn’t had any testing done recently. Could it be we were lucky enough to get genetics results in four-months instead of six? I frantically pulled up his account only to discover they were in fact ready, but not viewable online. I immediately called Children’s Hospital and they informed me they could not give me his results either and said I should call his geneticist. I picked up the phone to call this “keeper of results,” and I thought my heart was going to beat out of my chest. After months of tests, and waiting, followed by more tests, and more waiting after hitting one dead-end after another, were we about to find the one-size-fits-all answer to all of Ro’s symptoms?

Ugh… Voicemail. Time for the emotions to settle in while I anxiously wait for the phone to ring. I was overwhelmed by feelings of fear, anticipation, excitement, and doubt–the returned phone call could only hold two possibilities; answers or disappointments.

Riiiinnngggggggg! The moment of truth. I will never forget the next words Rowan’s geneticist would say to me when I picked up the phone, “I think we’ve found an answer for all of your son’s symptoms!” The rest of our conversation was a blur as she went on to explain to me that Rowan has a genetic mutation of the ARID1B gene in chromosome 6. That it is a multi-systemic connective tissue disorder called Coffin-Siris Syndrome (CSS) and that it is extremely rare. I was haunted by the next statement she made, “there is no cure.” Being forced from my brief euphoric state of relief, confronted with an option that we had never considered, I started spewing question after question. Questions to which I still don’t have answers to due to the rarity of this condition.

We ended our conversation with a scheduled appointment for later that week. What we have since learned is CSS has a lot of unknowns past the age of childhood. The gene mutation Rowan has is classified as de novo, meaning neither Dereck nor I are carriers. Rowan also has a partial deletion of 2q22.1 and a variance in the COLQ sequence, which we learned Dereck is a carrier of. Whole exome sequencing included both my husband and I, and we discovered our chances of having a second child with CSS is less than 1%–making Ro quite literally 1 in a million. But what we don’t know, is how this is truly affecting Rowan, but I’ll come back to that.

If you’ve never had to experience a similar situation, it’s hard to describe the different emotions you go through in a short period of time–some feelings which are never far from the surface. Paralyzing fear, for all of the unknowns the future holds. Anticipation to see what course of treatment the geneticist determines, and prayers she will eventually have more answers. Excitement that we FINALLY have an answer. Disappointment that there is no treatment. No cure. And then there’s relief. At least we have a name to call this thing that tries relentlessly to define our son’s life. 

Prior to the appointment with Rowan’s geneticist I went into research mode. First, I found THE ONLY specialist in the world that runs a clinic in Virginia specifically for Coffin-Siris Syndrome. Next, I found an online parent support group to connect with similar families. Then, I Googled and Googled and Googled some more until I amassed my mile-long list of questions. And yet, while I consumed myself in research, my husband did the opposite. He didn’t Google, not once–he couldn’t. Night after night went by and he still wasn’t even ready to talk about it with me. I knew my husband was desperately struggling to wrap his head around the news we had received, but I had no idea until much later that the impact was spilling into his ability to focus at work. He kept telling me he needed time to process and I just couldn’t understand what that meant. At the time, I had somehow selfishly convinced myself that talking about it constantly combined with tirelessly Googling I could somehow find a cure. For the first time in our relationship, we found ourselves at odds with one another…Everyone deals with a diagnosis differently and there is no right or wrong way. My intention in sharing our experience is not sympathy, but rather hope that someone reading this entry will relate and realize they are not alone in their emotions or situation.

The appointment with the geneticist came and went, and we were left with a five-page list of symptoms that accompany CSS. Some of the scariest things included were seizures and the possibility of cardiac and pulmonary issues. We were left with the answer “only time will tell” to the majority of our questions. We added three more specialists to our rotation of never-ending appointments. Our hopes of checking at least one specialist off our list was shattered, along with the assumption we were done with testing. We were provided with a silver lining when asked if Rowan’s information could be sent to a geneticist who specializes in CSS.  We eagerly accepted and asked if it happened to be Dr. Samantha Vergano– you know, THE ONE geneticist from my research– and in fact it was! It just so happened that Rowan’s doctor had previously worked with her, and we have been in communication ever since. We plan to visit her sometime this fall.

Once the appointment was over and the marching orders were given the information overload started to sink in. I didn’t really know how or what I was supposed to feel…Did I feel? The best description of my emotional state in the following days was numb. Relief was still lingering, but fleeting. It’s hard to shake a doctor looking you in the eyes and saying, “It’s very rare, we don’t know what it looks like into adulthood or the life expectancy. However, from what we know of it, we do not believe it to be progressive.” It takes a toll on you–like getting the wind knocked out of you over and over again. You start worrying about things 15-20+ years from now. Will he graduate high school, go to college, move out, get married, have children? It seems odd to wonder if your toddler will have children of their own one day. But for Rowan, with his growing list of inherited traits, having children will not be a decision he can make lightly–or likely naturally.

These fears and random thoughts circle back to what we don’t still know about Rowan’s genetic results. The variance in the COLQ sequence was sent through a series of six different tests to determine whether or not it is disease causing. Three came back positive, three came back as him solely being a carrier. Because of this, Rowan is still undergoing testing to determine if he has myasthenia on top of CSS which unlike CSS, is known to be extremely progressive. So just when we thought that was off the table, we are back to the drawing board.

At the conclusion of this entry, I know so much time has passed since March. But, no matter how many times I tried to write down our experiences, I couldn’t bring myself to do it. Calling and repeating the same story to our closest friends and family is exhausting. The more we answered, “what’s the cure,” with, “there isn’t one,” the more reality sunk in. People didn’t ask this to be rude, but in today’s world of medical advances, it’s assumed there is some sort of medicine or therapy or treatment. And when there isn’t, when you’re the one answering that question, hearing it stung more each time. Rowan has an ever-growing laundry list of diagnoses that are each part of his syndrome. Specialist appointments are part of his normal routine. No parent wants that for their child, but God must have known with his resilience and stubbornness (he gets that honest from both of us) he could handle it. Recently, Rowan has be taking steps and standing independently. Something we were told not to expect until the age of four. So, I guess what I’m getting at is we are learning to stop worrying about the future because Rowan likes to prove everyone wrong and defy all the odds. We take things day by day and make sure we give Rowan all the tools he needs to succeed. I wanted to be a pediatric nurse and I found myself consistently praying for patience over the years… God gave me Rowan. He has a funny sense of humor, but I can’t imagine a day without this little boy.

Jan. 2019

The day we’ve been waiting for with much anticipation has finally come and gone— our all day appointment at The Neuromuscular Clinic. My hopes were high for the outcomes this day could bare with new specialists, different tests, and fresh perspectives. Though, as strong as my hope was, it was closely shadowed by doubt and hesitation. Was I about to subject our family to a battery of tests and consultations that would yet again yield more questions than answers? Thankfully, my mind was quickly put to ease once we arrived. While nothing with Rowan is clear or definitive, we were armed with an abundance of information and forging a course of action to move forward.

First up, we met with the Neuromuscular Specialist. After reviewing Rowan’s chart, she told us she suspects his condition is in the myopathy family or CMS (congenital myasthenic syndrome). This came as a shock to us since Rowan has already been tested for CMS and cleared—a victory we celebrated. But, apparently there are other types that he has not been tested for, so we cannot rule those out. She went on to explain her rationale was based on his ptosis combined with Marcus Gunn syndrome (yes, another new diagnosis). Typically, these two things combined indicate a neuromuscular issue. While hearing a suspected diagnosis is a relief, it’s equally a struggle. From my experience, it is evident doctors don’t just throw-out a suspected diagnosis unless they are extremely confident in their “guess.” So, while narrowing down a root cause is helpful so I can continue to conduct the research I can’t seem to stop from doing, it’s terrifying to discover these suspicions are forms of muscular dystrophy. The exam continued by evaluating Rowan’s reflexes. The doctor discovered he does not have an ankle response, which explains the “unique-to-Rowan” foot movements he makes.

Next, we saw the Dietician. I was nervous and fearful for this portion of the day because Rowan has not grown in months. Would they push for a feeding tube? Would I need to plead Rowan’s case? I assure you, this boy eats! He just does not seem to grow… However, that wasn’t the case at all! The doctor was happy with his diet and she herself suffers from a laundry list of food allergies, which is extremely helpful. Since Rowan is proportionally tiny, his BMI is great, so she concluded his lack of growth is likely a metabolic issue.

Our next appointment was with the Physical Medicine and Rehab specialist. Between PT, OT, ST, and home and feeding therapy, having a doctor oversee and coordinate care is a true Godsend. Initially, she stated her concern was Rowan might have hip dysplasia. Thankfully, the follow-up x-ray ruled this out. She went on to say we will re-evaluate his SMO braces in a few months and consider more supportive options, but for now they are doing their job. She also evaluated Rowan’s moderate thoracic scoliosis (30°) and ongoing torticollis. We will continue seeing an Orthopedic Specialist every 4 months to monitor the progression. The doctor also brought up Botox to help the torticollis, but it was decided the risks at this time outweigh the benefit in Rowan’s case.

On to The Heart Institute for cardiac testing. Rowan was ordered cardiac testing to establish a baseline for his heart function. Most cardiac conditions associated don’t present themselves until you’re older, but since the heart is a muscle and Rowan has hypotonia (generalized muscle weakness), they wanted to monitor him. The “simple” tests they needed to perform are anything but simple when you’re a 17-month-old that’s not sedated, hates lying still, and needs to be held down. But, we managed and somehow got through it long enough to get what they needed. The Cardiologist had no immediate concerns given his EKG and ECHO results. However, that is subject to change if genetic testing comes back positive for one of two specific types of muscular dystrophy (Duchenne or Becker). Best-case scenario, we won’t have to see the Cardiologist again for 2 years.

Last but not least, we completed our day by seeing the Pulmonologist. We were absolutely blown away by this doctor. He was by far one of the most caring people I’ve ever met and was incredibly knowledgeable (think Max from New Amsterdam). He walked in, offered me his chair to sit in with a passed out Rowan, and asked what he could do to help us in our journey. We spent the next hour talking about all things Rowan—from his head to toe issues to his day-to-day routine. Together, we came up with strategies to help develop better sleeping habits, including the possible use of a weighted blanket. For those of you who aren’t aware, Rowan has never slept through the night; he is our little night owl.

During this last exam, it was discovered that Rowan has chest wall muscle weakness creating seesaw breathing. This may be affecting his gas exchange causing insomnia. Because of this, we will need to follow-up with a sleep study in the next 6 months. For now, we are being referred to a BMCP (Behavioral Medicine and Clinical Psychiatrist). The BMCP we were referred to specifically specializes in neuromuscular kiddos. The Pulmonologist explained the BMCP is necessary because Rowan is showing signs of autism spectrum disorder in addition to the neuromuscular concerns they have. For now, I am willing to agree that Rowan presents some signs of autism. However, the most glaring factor is social anxiety, and for anyone who has met my child, they know Rowan is a social butterfly. But I suppose time will tell…

After all of the tests and consultations were completed, Rowan’s team of Specialists agreed the next step was a muscle biopsy, EMG, and nerve conduction study in addition to more lab work. A referral was also placed for The Plastic Surgery Division to re-evaluate the need for a helmet for his plagiocephaly and to GI for chronic constipation. With all these new referrals we are up to 17 specialists—one for each month our little man has been alive.

Rowan’s list of diagnoses is growing but we still have yet to find our ‘one-size-fits-all’ diagnosis that explains what exactly is going on. Despite the outcome, it will not change how amazing our little man is, not even one bit. Though, part of me cannot wait to have an answer because we could begin to whittle down our specialists and the number of tests he is subjected to. The tactic of aimlessly shooting in the dark and waiting for something to stick is exhausting. I know he won’t remember these first few years, but I will. There are days I want to throw in the towel and stop putting him through all this, but I know we can’t. At the end of the day if we call it quits and later find out there was a gene therapy or medication we missed the treatment window for, we would never forgive ourselves. So, we continue to schedule appointments and tests and fill the calendar but most importantly, we continue to pray. Pray whatever it is that it’s not progressive… pray for answers… pray for a happy healthy boy. I would love to tell other mamas in similar situations that prayer makes the worry, fear, anxiety, and stress fade away but I can’t… I can say though, that it helps!