A mile in my shoes: battling barth’s one step at a time

The number 13 is not a good number for our family. November 13th 2015, we lost our first born Henry. February 13th 2018 Walter got diagnosed with Barth Syndrome. I apologize, this post may be long, bare with me.

After Wally was born the neonatologist and our pediatrician both agreed that Wally should see genetics just to get checked because of what happened to Henry. We weren’t 100% sure what had caused Henry’s death. We never dwelled on that appointment because, well, maybe we were in denial. Maybe we didn’t want to believe that something could be wrong with Wally too. That appointment was scheduled for April. Because of everything going on with Wally we were able to meet with the genetics team while in the hospital. Thankfully. The genetics counselor Jen who visited us that very day we got the news about Wally’s heart is absolutely amazing. So warm. So compassionate. She wanted to run a blood test that for the life of me I can’t remember the name. But the test consisted of my blood, AJs blood, and Wally’s blood. It was a full DNA sequence test that would closely look at all three of our DNA. Jen had said that this test was super expensive, 14,000 to be exact, for one blood test, mind boggling. They actually had to get OSFs approval before sending it. It was sent to Mayos and she said we would hopefully have an answer within 5-7 days. The answer came in 5 days.

While we waited we got to know Wally’s cardiologist very well. Dr. Jantzen who we now call Dr. J. Amazing physician and an even more amazing person. We just adore him and are so thankful he is Wally’s cardiologist. We had a lot of talks about what it could be. What he thought it was. He talked about how we couldn’t really move forward until we had an answer for why this was happening. We talked about the guilt AJ and I felt as parents for not getting an echo done when Wally was born due to our history. He reassured us that we don’t know when Wally went in to heart failure. The echo could have been normal after birth and we would have been given false reassurance. Although this didn’t make it all better, it did help ease some of the guilt AJ and I felt. Remember in my earlier post where I talked about how Wally’s color always seemed to be off? The fussiness? How he always seemed to be in pain? Uncomfortable? Well now we know why. Dr. J said he was probably experiencing chest pain and muscle aches. Absolutely breaks my heart to think he was hurting and I didn’t know. I still to this day carry around a lot of guilt on what I could have done differently. I’m trying to cut myself some slack… but it’s hard.

The hardest discussion that the three of us had was discussing how RSV essentially saved Wally’s life. Heart failure in infants is hard to detect because they cannot tell you their symptoms. Most parents don’t realize their babies are in heart failure until it’s too late. Without being hospitalized for the RSV, a couple months down the road with Wally’s heart deteriorating rapidly and with no medicines, Wally would have gotten very sick. Probably even going in to cardiac arrest at home. At that point it would have been heart transplant or Wally would have died. Dr J said how lucky we were and how he had hope we had caught it early. With the help of medicines Wally could thrive. Still to this day I cannot process how lucky we are that Wally got RSV. To think how sick he would have gotten, without our knowledge, makes me feel physically ill. I try my hardest not to go there, to those thoughts. He’s here and he’s ok. That’s all that matters.

Five days after getting our blood drawn, we were sitting in Wally’s hospital room when in walked Dr. J and Jen. Jen has told us previously that if the test came back normal she’d call us. But if something came back abnormal that she’d be by to discuss it in person. So seeing her, we knew something had come back on the test. I remember looking at her and saying, “Ok what is it? Is it treatable? Fixable?” She said “Wally has a syndrome call Barth Syndrome.” I remember thinking Barth Syndrome? What the hell is that? Of course our luck would have it that it is super rare and not even the physicians on Wally’s case knew much about it. The whole conversation is sort of a blur. Questions were asked. We were told not to google. (Of course I did). Jen explained in detail all that she knew. For you guys reading this, I will post the definition that is found on the barth foundation website. “Barth syndrome a serious X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin gene, resulting in an inborn error of lipid metabolism.” A lot of people think Barth syndrome is a heart disorder. It is not. It is a disorder that affects the whole body as a whole. Cardiomyopathy is just one of the many symptoms of it. Other symptoms include muscle weakness, neutropenia, growth delay, exercise intolerance (due to fatigue) and cardiolipin abnormalities to just name a few.

So we had a diagnosis. But that’s really all we had. An answer but not really an answer. Jen and the doctors couldn’t really tell us what long term would look like for Wally’s life. They did know that some boys do well on medications and other boys do not. They said they would have a better understanding of what path Wally would take within the first year of his life. A lot of uncertainty but not only did we have an answer for Wally but after two and half years we finally had an answer for what happened to our Henry. Silver linings.

As much as I didn’t want there to be something wrong with Wally, I felt relief. Relief that I wasn’t crazy. That there actually was something wrong with him. Relief that we caught it in time. Relief that we could now start fighting for him to have the best possible life even with these circumstances. The days that followed were spent coming to terms with now being Barth parents and what that would mean going forward. It was spent researching, titrating meds and the oxygen, trying our best to explain it to friends and family, loving on Wally, questioning the what if’s, mourning the loss of Wally having a normal life, but most importantly thanking God he hadn’t taken Wally from us and thanking Henry for watching out for his little brother.

****Sorry it took me this long to get this post out. Wally got a double ear infection and it has been a rough week. Once again, thanks for reading, following our journey, and for loving us. Love you all! ❤️❤️❤️

The day I was told there was something wrong with Wally’s heart was the second hardest day of my life. The first… losing Henry. Most of you are probably wondering why I didn’t start with writing about Henry. He is where this all began. He made me a momma. To be honest…I’m just not quite ready to write about him just yet, to lose him all over again. I’ve even been putting off writing another part of our story because its so very hard to think back to those days, to look at the pictures, to feel the things I was feeling that day. It all seems like a blur now… but than… it was like my world was ending all over again.

To give a timeline, Wally was admitted for RSV on the early morning of the 5th of February. On February 7th he wasn’t making much progress. He had to be put on what is called heated high flow oxygen. Basically its moist oxygen to help break up the junk in his chest. He also wasn’t eating well (which he never had since the day he was born). We had such amazing doctors and nurses but one senior resident stood out among the most. He is the one who essentially saved Wally’s life. To this day I wish I would have gotten his name to thank him for saving our baby.

On the morning of the 7th he was doing his rounds. He discussed how Wally should be weaning off the oxygen by now, not adding heated high flow on day six of his symptoms first appearing. I remember he kept asking a lot of questions which made me nervous. The main question being, “Is there any history of cardiac problems in the family?” I kept replying “Besides heart disease on AJ’s side of the family. No. Nothing.” And than… I thought about Henry, how Henry passed. I remember my stomach dropping and feeling sick. He must have saw the look on my face because he asked “Did you think of something?” I told the story of Henry and how he passed and that the autopsy came back that he was in heart failure and had dilated cardiomyopathy. But I reassured him that all the doctors were 80% sure that it was a virus I had caught and passed on to Henry in utero. He didn’t look so convinced. I remember the look on his face, the concern, the worry. He was going to go discuss everything with his attending but that Wally would probably have a cardiac workup in the morning.. “just to make sure”. I remember thinking ok… nothing to worry about. Henry had a virus. A virus. There was no way Wally could have the same damn virus. If only it were a virus. Viruses can be fixed. Viruses can be cured. What Wally had… what Henry had.. was far worse.

The early morning of the 8th… The day our world would come tumbling down for a second time. The senior resident rounded extremely early along with the attending. The attending spent what seemed like hours looking over Wally. Listening to him… inspecting every inch of his body. I remember thinking this lady is weird. Why is she inspecting him like he is some sort of lab rat. She also asked “Has anyone ever mentioned anything to you about his ears?” His ears?! Kid has enough problem. What the hell is wrong with his ears? I remember saying that to her and we both laughed. But she said how his ears were misshaped and lower on his head than most peoples. The questions were swirling in my head? My mind going a mile a minute. What does this mean? Could there be something else wrong with him? No. No way. God wouldn’t do this to us after losing Henry. They came up with a plan to do a cardiac workup because of the history of Henry for just in case purposes. Ok.. I can handle just in case purposes. Everything will be fine and we will all be reassured. The senior resident explained that they would do an echo (ultrasound of the heart) and if something comes back abnormal a cardiologist would come to our room to explain the results. What worried me… the resident seemed nervous. The attending seemed nervous. Which in turn..made me nervous. AJ and I tried to pass the time by laughing about the ear thing and how crazy that attending sounded. The echo tech came and left. And we waited… It didn’t take long.

AJ was napping. Wally asleep. I decided to go to the vending machine to get a drink. As I was walking back I saw the senior resident, the attending, another resident, and a man in a white coat who I had never seen before standing outside our door putting on their gowns and masks (Wally was in isolation due to RSV). I cannot even describe the feelings that I felt in that moment. Another doctor. A cardiologist. Something was wrong. I remember stopping in the hall. Not being able to move. My heart started racing. They noticed me and said “Heres the mom now.” The new doctor asked me to wake up my husband and I did. I remember shaking, the tears already forming, my stomach churning as Wally snoozed in his bed 2 feet away. I sat in the chair, AJ standing next to me. As I looked up at all these doctors with tears in my eyes, I started begging, pleading, praying to God for it to not be true whatever it was. And than the “new doctor” spoke and my world as I knew it came crashing down for a second time.

“Walter’s heart isn’t functioning like it should.” Seven words. Seven words is all it took for me to let the tears fall. He kept talking, words like ejection fraction 35%, not sure what is causing the heart failure, want to run more tests, transferring to the PICU, maybe inserting a central venous catheter, starting cardiac medicines. I remember going and picking up Wally and just rocking him, crying into his shoulder. I remember squeezing AJs hand as I sobbed. The senior resident handing me tissues. All the doctors looking at us with the same sad face. I tried asking questions, not sure what those questions were, because I think my body just shut down. Heart failure! Our seven week old baby, like his brother who passed away, was in heart failure. None of it made any sense. We were just admitted for RSV. How could this be happening? What seemed like hours probably only lasted twenty minutes. We knew we had to call our parents. We knew we had to pack up our room because they would be transferring us to the Pediatric Intensive Care Unit. But AJ and I just stood there crying, hugging each other. I remember telling him, “I cannot lose him. I will not go through this again. I cannot. I won’t survive.” We took a minute. Gathered our composure, wiped our faces, and we started to move. I walked out of the room to call my mom and get some air. He stayed with Wally and called his mom. After telling our parents who said they were on their way, we started packing up our room.

Once in the PICU, and in our new room, a ton of new doctors swarmed us. Asking our history, etc etc. It was decided Wally didn’t need a central venous catheter (thank God). Blood work after blood work needed to be drawn. The genetic counselor would be by to talk to us. It was the most exhausting day. A lot of people. A lot of questions. No answers. But those answers would eventually come but it would take another five days for that answer to come. It would take a lot of blood work from Wally and us. It would take starting meds and titrating them. It would take a lot of sleepless nights, crying, praying, and bartering with God. We would have a lot of visitors, friends, family who rallied beside us. In the process of some very long days waiting for that answer, we would again be transferred to a different room. This time, down the hall, to the intermediate floor. And than we would sit, love on Wally as much as we could, and wait… again.

I never thought writing about our story would take a lot out of me emotionally. But it does. It’s one of the reason I have been writing it in parts and it takes me a couple days to finish. It’s hard for a person to look back on some of the worst days of their life. To re tell it is like reliving it. It’s hard. But it also gives me perspective. Where we have been. Where we are going. It is all apart of our journey. Wally’s Journey.

Thanks for reading. Stay tuned for the day I became a Barth momma.

I was telling my friend that this blogging thing is very over whelming. Mainly because there is so much to our history, to our story that I wasn’t quite sure what my next blog post should be. I decided that these posts don’t necessarily have to be in order of how they happened. This may be lengthy. So bare with me as I venture on to reliving one of the moments that changed all of our lives.

From the moment Wally was born, I always had a gut feeling that something was wrong with him. I didn’t know if I was being paranoid due to losing Henry (that story will come another day) or my gut was right. I learned to always go with my gut.

Wally wasn’t an easy newborn. Man, he still isn’t easy. But he never slept. Screamed all the time as if he was in pain. He was always stiff and never seemed to feel relaxed. He had these moments where his color seemed off and he would just look sick. We would take him to his pediatrician (who is amazing and has the most amazing staff) what seemed like every week. They knew our history and were always so kind. But they didn’t have an answer for what was wrong with him. Colic? Need a formula change? They probably thought I was nuts. But little did they know I kind of was.

I remember the first few weeks of his life, I was beyond exhausted. All I did was cry. I remember there were many times I would go into the shower, sit on the floor, and just cry and cry. What had I gotten in to? Why was this so hard? I was a nurse. Why couldn’t I figure out what was wrong with my baby? Maybe I wasn’t meant to be a mom. The depression over took me and I was not easy to be around. I remember feeling so isolated. So alone. I remember feeling angry that AJ got to go to work and have a break and I was stuck by myself. Not knowing how to comfort this sweet little boy God gave me. I would cry myself to sleep just staring at him when he did sleep. I would always think besides losing Henry this was the hardest thing I had ever gone through. I don’t even think the people closest to me realized how bad I struggled. What should have been one of the greatest times of my life…it was actually one of the darkest times. Little did I know at the time that things would get worse.

The Friday before super bowl Sunday Wally woke up sounding sick. He has laryngomalacia (a floppy airway) which makes him a noisy breather. So it was hard for me to distinguish whether he was wheezing or if it was just his malacia. I took him to his pediatrician. They checked his oxygen. It was fine. They kept listening to his lungs over and over trying to distinguish if he was wheezy or not. They finally decided he was fine. To watch him over the weekend and to call with anymore problems. Well on Saturday he woke up with a croup sounding cough. I took him to a prompt care. Of course he wouldn’t cough while there 🙄🙄. They said he was fine. I remember that night I just had this doom and gloom feeling. That something bad was going to happen. That things were not ok. Well it’s because they weren’t.

That Sunday, February 4th, super bowl Sunday. We went to my parents for a super bowl party since my dad is a huge patriots fan! I remember sitting in my moms recliner, holding Wally, looking at AJ telling him with my eyes something wasn’t right. Wally was lethargic. His color looked off. His cough was getting worse. He was also retracting more than he usually did. He sounded and just looked miserable. He wouldn’t eat. But no fever and was still having wet diapers. I took him into my moms bathroom and ran the shower to steam up the room. Do you ever have a moment that has happened in your life that you know you’ll never forget for as long as you live? Well as I was swaying Wally who was just in a diaper, singing to him, I looked down with tears in my eyes into his baby blue eyes staring back at me. He looked up at me with this glazed look, almost like he was telling me, “Mom I’m not ok. It’s time to go to the hospital.” It was the most surreal moment of my life, a moment I’ll never forget. I turned off the shower. Walked out to the living room and got AJ. He told me to call the peds after hours. I did. And they told me to go straight to the hospital. I remember packing up Wally crying and feeling like I could be sick.

We arrived at OSF ED around 730 where they checked us in and took us straight back to a room. They ran some tests, hooked Wally up to the monitor, and we waited. And waited. And waited. We were all exhausted. Being in a small and hot room with a sick 7 week old was not fun. But finally around 1 am the test came back that he had RSV and we were being admitted. As much as I hated that he was sick, I was so glad I wasn’t crazy and he was going to get the help he needed. We finally got to the general peds floor around 2am. It was explained that we’d probably be there a couple days, he was put on some oxygen, and we all tried to sleep.

I don’t really remember much of the days after that night, leading up to what I call D Day (diagnosis day). What I do remember is how exhausted we all were. And how sick Wally really was. I remember feeling terrified, yet calm, that we had these amazing nurses and doctors looking after our baby. The monitor that he was hooked up to, as annoying as it was with the constant beeping, was a relief. To be able to watch his stats gave me peace of mind.

If only I would have known than that my sweet little baby boy contracting RSV would save his life. That RSV was the least of our worries. I wish I could have prepared myself for what was to come next…. but looking back…. Nothing could have prepared me for what would turn out to be the second worst day of my life.

Hi there,

If you’ve stumbled upon this blog most likely you know my story from Facebook. And if you’re new to my story, don’t worry, I’ll go in to all the details eventually that is my life being a new momma to a little boy with Barth syndrome. But not only am I a new momma, but a wife, friend, daughter, sister, aunt, coworker, who struggles to balance it all.

I’ve been thinking about starting a blog for a long time now because I enjoy writing. The problem was I didn’t know where to start or if people would actually read it. Would people judge? Would people think I’m crazy? But lately Ive been thinking…. who cares. This is more for me than anyone else. And maybe. Just maybe another momma struggling with a medically fragile child or hell just any momma in general will stumble across this blog and know they are not alone.

You see, I have always struggled with depression and anxiety. Well with everything that has gone on in my life in the past three years it has gotten worse. Yes I’m on medicine. Yes I have a great support system. But I still struggle…. a lot. The one thing I haven’t tried is writing out my thoughts. To be honest I’m terrified. I’m a talker. Anyone who knows me knows this. But to bare all my thoughts and emotions for everyone to read… well that’s just down right terrifying. But my hope is that by writing out my worries, my struggles, my triumphs, it will help relieve some of the worry and anxiety I feel on a daily basis but also maybe help someone else along the way.

So ladies and gentlemen here I am. Baring it all for all of you to see. The good. The bad. And the ugly. I always tell people, I wish people could walk a day in my shoes… so come take a walk with me.

“Everyone you meet is fighting a battle you know nothing about. Be kind. Always,”

Thanks for joining me!

Good company in a journey makes the way seem shorter. — Izaak Walton