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! ❤️❤️❤️