AN UNCONFIRMED DIAGNOSIS

I could copy and paste information from a million different websites to try and give you all a better understanding of what this syndrome is. However I think that will only give you a medical encyclopedia explanation. So I will try and explain it to you the way I, as a mother, of a boy who has this syndrome, understands it.
While Owen was forming in my womb unbeknownst to us, somewhere along the way there was a misprinting on one of his chromosomes. There are varying types of BWS but to go into all of that would just confuse you (trust me it confused us! And still does!) Because of this misprinting we have Owen, our extremely large and perfect child! Now of course if I was ever asked before he was born if I would prefer him to have something like this I would say no. But now that he is here I wouldn’t change him or his syndrome for the world. That is the crazy thing about life. One day you think you have the answer and then bam! This adorable chunky baby boy who will later be diagnosed with a rare genetic syndrome is placed in your arms and your answer completely changes.

Owen’s syndrome causes him to have accelerated growth; however, it doesn’t affect every area of his body. For Owen, certain parts of him are affected. And the crazy thing is, children with this syndrome are all affected differently and in varying degrees. For Owen, the first thing we noticed about him when he was born was how incredibly large he was and then the size of his tongue. I didn’t think that I would be as surprised as I was about his tongue because we knew from the ultrasound that his tongue was big (we had no idea before his birth that he was affected by BWS). But when I tell you it was big, I mean, whoa. It was hanging out of his mouth most of the time. I remember my husband looked at me as they were closing my C-section incision and asked me if Owen’s tongue looked normal. I had a million emotions in my head but the first was I wanted to hold him so bad! I felt that giant bugger in my belly for 9 months. I finally wanted to hold his chunky self in my arms. It took about a day for us to notice some of the other things that were affecting him. I mentioned his tongue to the pediatrician that saw us in the hospital the same night as my c section and he told me it was probably just swelling. He did casually mention that there is this syndrome called Beckwith-Wiedmann Syndrome (BWS) that affects the tongue but he probably doesn’t have that. For the moment I felt relieved, but that soon wore away. We held our beautiful boy (he felt like I was holding a 1 year old) the whole night and all I kept thinking was how I couldn’t wait for our son Michael Jr. to meet his little brother.

The next morning one of the doctors came to me to discuss Owens sugars. To this day I can’t even remember why they were checking them in the first place. Owens sugars were low, which is also a symptom of his syndrome. They wanted to monitor him in the NICU. I was so upset. Working in health care is almost a curse when you and your family are on the other side of things. You know a lot and sometimes that isn’t an advantage. My husband tried to assure me that everything was fine and that I should take the time to rest and heal. I tried my best but I was not coping well. I wanted my baby. I forced myself to get out of bed and later in the day went down to the NICU to see him. Let me preface this by saying the NICU is not a humorous place. I feel for those parents and children that have to be there for extended periods of time. Actually my good friend/coworker’s daughter was there the same time as Owen, but for much longer. I have no idea how they did that for as long as they did. But to see Owen in the NICU provided me some comic relief. He looked GINORMOUS! None of the onesies they had fit him, they needed a bigger pod to place him in, and they needed 2-3 receiving blankets to keep him wrapped up. I mean he literally looked like a football player compared to these little preemies. 

During my visit that day a number of doctors and Owens nurse (who was amazing by the way) were examining him. I heard one of the doctors say to the other, “Do you think his right extremities look bigger than his left”. I immediately interjected and said that I had noticed that earlier in the day. Immediately the doctor said we need to order an abdominal ultrasound and check for cancerous tumors, and then walked out. I at first sat there and thought to myself, no that’s not what she just said. Then I went into panic mode. Owen’s nurse must have already known that the doctors were suspecting that he had BWS, because she had printed off a bunch of information on the syndrome from google. She handed them to me and told me that they were looking into whether he has BWS or not and an ultrasound is one of the tests they run. A million things went through my head and there was only one word that I kept thinking of. CANCER. What? No. My baby doesn’t have cancer. He doesn’t have anything that would give him cancer either. CANCER?! His 1 day old. He’s perfect. Their wrong. I sat in the NICU waiting room while he got his ultrasound and read through the BWS handouts. It was after reading that I didn’t need a doctor to diagnose Owen with what I already knew he had. He had almost all of the physical hallmark signs of BWS. And not only that, I had some of the pregnancy related signs. As I read I checked everything off in my head. Large tongue. Check. Large birth weight and length. Check. Hemi-hypertrophy of one side (overgrowth of one side or one part of the body). Check. Low blood sugars. Check. Umbilical hernia. Check. There may have been one or two on the list that he did not have. The handouts also referenced the signs that the mother who carried a BWS baby can show. An abnormally large placenta. Check. Raised volume of amniotic fluid. Check. Extremely large umbilical cord. Check. It was in that moment that I knew he had BWS. I was scared. And of course I continued to read and then I became terrified. As I continued to read, the handouts talked about the reason behind why BWS babies need abdominal ultrasound. Because they have a higher risk of developing childhood cancer. There it was again. The C word. I burst into tears. I was so confused. How on earth could this perfect 12 pound boy be plagued with something like this? Why? How? Is it my fault? 

As all these thoughts were running through my head the nurse came out and told me that his ultrasound was clear and that they didn’t see any tumors on it. I cried even harder. All I wanted in that moment was to get my baby. I wanted to hold him and get him out of that incubator. I have never felt so helpless. The more I read the more hopeless and helpless I felt. And the worst part was I was going to have to update my husband on all of this information. At the time he was home with our 4 year old son. I also knew that until a doctor confirmed for us what I already knew Owen had; my husband wouldn’t believe he had it.

When I went back in to see Owen one of the doctors was there. They explained to me that they were suspecting that Owen has BWS but there is a genetic test that he needs to get done and that they were in contact with Children’s Hospital of Philadelphia. CHOP wanted us to get transferred there but my hospital felt they had everything under control and that the genetic testing could be done on an outpatient basis. The doctor explained to me that if he is diagnosed with this syndrome that he would need to be monitored for cancerous tumors until the age of 8 with ultrasounds and blood work every three months. They also mentioned all the specialists he would have to see. I was so overwhelmed. All I wanted to do was hold my child and spend those moments looking at him alone. Those peaceful uninterrupted moments that you only get right after you have them. I never got those moments.

When I finally went back up to my room I called my husband. He of course told me not to jump to conclusions and that everything was going to be alright and that we don’t even know if Owen has BWS. I told him I knew he did and he made the mistake of telling me I might be overreacting because of my hormones. MURDER! I know any woman reading this agrees with me. I wanted to kill him! I know he wasn’t trying to be insensitive and he was trying to keep me positive but that backfired and just made me angry. I remember fighting about it with him and saying over and over again. Mike I know he has this. I know it in my gut. Mother’s intuition I guess. But no matter how convinced I was that he had BWS we wouldn’t find out for two more weeks.

The next day they were getting ready to discharge me and there was debate whether to let Owen come home or not. He was still in the NICU being monitored for his sugars. At this point he was being formula fed a high calorie formula to get his sugars up. The night before I was pleading with the doctors to please let him come home. That I was perfectly capable of testing his sugars. After all they weren’t doing anything other than feeding him high calorie formula! They weren’t even giving him fluids. All the care he was receiving I could do from the comfort of my home. I wanted to yell at the top of my lungs, FOR GOD SAKES I WORK IN THIS HOSPITAL LET ME TAKE MY BABY HOME. But I didn’t want to be THAT patient. The one that makes sure everyone knows they work in the hospital and knows the language of health care. I can’t stand those types of patients! I was told we would be lucky if we could come back and get him in two days. I cried a lot the night before discharge day.

 I finally felt like I got myself emotionally together on the day of discharge. My husband and I were packing up my things to go home and my phone rang. It was the NICU Doctor. No sweeter words have ever been spoken to me. YOU CAN TAKE OWEN HOME TODAY, and with that I burst into tears. Happy happy tears.

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