Under Investigation – A BWS Families Story

Meet the Reuter Family – A BWS Guest Blog Post

I’ll start by introducing myself. My name is Megan. My husband, Jeremy, and I have 3 boys. Riley is 9, Brenden is 6, and Liam is 2. Our family has been through a lot already, making our story a long and unique one. When Liam was born on January 12, 2018, we could not have been happier. Three healthy boys, what more could we ask for. Little did we know, our world would be turned upside down in just three short months, which started with us being under investigation. 

Under Investigation -the wrong cause

On April 8, 2018, I took Liam into the emergency room because his left leg was swelled up almost double the size of the right leg. Several tests and images were done but we were sent home with no answers. The following morning we were called by a different doctor and told our three month old had a broken leg. We were extremely confused. The doctor the night before said his leg was fine and he definitely did not act as if it was broken. In just a short few hours, the Department of Human Services and a police officer showed up at our house. We were now under investigation because we could not give the doctor or DHS a reason as to why his leg would have been “broken”.

Thankfully, we had our family doctor backing us up and we were able to keep all three boys in our care during the investigation. I don’t know what I would have done if they were taken into state custody! During this time, we were ordered to take him to an orthopedic doctor. This doctor would not give us any answers as to if it was truly broken or if it was getting better. Whether it was because we were the ones being investigated or if there was a different reason, we will never know. While this was all happening, our doctor was trying to find anyone that would help her try to figure out what was truly going on with Liam. Unfortunately no doctor would help us.

We were told by several doctors at the Children’s Hospital that if they began seeing Liam, they would request he be automatically taken out of our care. We are so thankful that our doctor decided to decline their involvement. Finally, about three months later, we were notified that we were no longer under investigation by DHS and that Liam never truly had a broken leg! Within thirty seconds, Jeremy and I felt so many emotions. We were relieved, angry, frustrated, thankful, and disgusted among so many other emotions. By this time, we also noticed that Liam’s left arm was bigger. Due to this, our family doctor did some searching. She then called a geneticist at the University of Iowa hospital. Thankfully he was able to see us within a week. 

Trusting our gut

When we met with the geneticist, he explained to us what Beckwith Wiedemann Syndrome was. We had never heard of it before and we were absolutely terrified! When a doctor throws a rare disorder as well as the heightened cancer risk numbers and complications that may come along with the disorder at you, it is extremely frightening! This doctor offered to do genetic testing but didn’t feel it was necessary because even though Liam had enough traits of BWS to receive a clinical diagnosis, this doctor didn’t think they were prominent enough to truly be BWS. We opted for the genetic test and it came back positive for Beckwith Wiedemann, more specifically loss of methylation at IC2 and gain of methylation at IC1 meaning he had the type of BWS called paternal uniparental isodisomy (UPD) 11p15.5.

So many things made sense at this point. His hemihypertrophy (one side being bigger), his enlarged tongue, and the red mark on his forehead and back of neck were all traits of this rare disorder. After the testing came back, we switched to a different geneticist that is the leading doctor of a cancer predisposition clinic. She was extremely helpful in getting us moving in the right direction. 

The whirlwind we couldn’t stop

Our new doctor referred us to a few other doctors to follow up with several concerns. Liam met with a cardiologist and had an echocardiogram to rule out any heart complications that could be caused by BWS. He met with an orthopedic doctor that determined he had a centimeter difference in the length of his legs, and he met with an otolaryngologist (ENT) to discuss his tongue size. He also started his quarterly ultrasounds and afp blood work to monitor the size of his organs and check for any abdominal masses. Those first six months of Liam being diagnosed with BWS were emotionally and mentally exhausting. We were learning about a disorder that most people, including health professionals, have very little knowledge of.

Once the doctors had baselines of where Liam was at and what was going on, he started several types of therapy. He had physical therapy to help with the leg discrepancy and walking, occupational therapy to help with feeding, and eventually speech therapy to help with forming sounds since he was unable to due to the size of his tongue. When Liam was finally able to get in for a sleep study (summer of 2019), they discovered he had obstructive sleep apnea. In October 2019, his ENT doctor decided to remove his tonsils and adenoids, thinking that may help with the sleep apnea. Unfortunately, the sleep study that was done after this surgery healed up (early December) showed the sleep apnea had gotten worse.

Finding the best for our son

At this point, the doctor was thinking about a modified tongue reduction. The reasoning for a modified tongue reduction was he was not comfortable doing a full reduction because he had only done a handful in his career and he came right out and told Jeremy and I this. After talking to him about his concerns with the surgery, we decided to get into contact with the BWS team at the Children’s Hospital in Philadelphia.

With it being the holiday season and us being about a thousand miles away, we figured it would be months before we got in. Thankfully the amazing team at CHOP got us in with the entire team, including genetics, pulmonology, orthopedics, and a plastic surgeon at the beginning of January. We felt blessed but were scrambling to figure out how we were going to do it right after the holidays with two other children. We were able to figure it out and flew to Philadelphia the second week of January. Liam ended up having a full tongue reduction by Doctor Taylor the following week and we couldn’t have made a better decision. 

Relearning everything

Since the reduction, Liam has had to relearn how to drink, eat, breathe, and talk. It was rough at times but we made it through and have become closer as a family. We will return to Philadelphia for follow ups every summer and so far they have discussed a possible need for another reduction as his tongue continues to grow as well as a few surgeries that will be done at a later time to help lessen the leg length discrepancy since it is currently at 2.5 cm and continues to grow. Since Liam’s surgery, we have also learned that his liver is enlarged by a significant amount and his spleen is shaped abnormally and enlarged. So far this is not concerning, as enlarged abdominal organs is a trait of BWS but it will continue to be monitored during his quarterly ultrasound. 

Taking care of eachother – sibling love

Our older two boys have been amazing throughout this entire journey and have stood up for Liam whenever needed. They both understand that Liam has different needs, including needing more attention, and they try to help out as much as possible. Riley has always participated in Liam’s therapy with him so he doesn’t have to do it alone and Brenden loves to help him with whatever he needs help with, whether it is climbing the stairs or eating foods that are difficult for him.

Riley and Brendan are Liam’s biggest supporters and will always be there when Liam needs it. They also know that sometimes life in our house is crazy and they roll with it just like Jeremy and I do. Sometimes BWS life is unpredictable and we have to be willing to adapt and our kids are amazing at it. I couldn’t ask for a better family to ride this crazy ride with. 

Live Large & Stay RARE.

2 thoughts on “Under Investigation – A BWS Families Story

  1. So this story brought tears of both joy and sadness. My son is also named Liam and he’s 4 months old. What seemed to be a normal new born to everyone was not a normal to me. I noticed the large tongue, ear pits, and overall the increase in rapid weight gain and I kept pushing my pediatrician to look into this. After seeing many doctors and genetics it was confirmed that my Liam has BWS. I can visibility see his right side growing larger then the left, his large tongue. And I have had several choking incidents. Liam has an older brother Eli and they adore each other but my emotional being well both my husband and myself has really been affected. I will keep your Liam in prayer and thank you for sharing this story. I still have to come in accepting this rare for my family. But just like you my family is Liam ma biggest supporters.

    1. I know exactly how you are feeling. The emotional ups and downs can take such a toll. Just know you are not along. There are so many families who know exactly what you are going through. It will take time to accept it and that’s okay. It took me the better part of a year to accept it and then start this blog as an outlet. Allow yourself how ever long you need. Allow yourself the time you need. Be proud of yourself for pushing and trusting that momma gut of yours. Sending you so much love 💚

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