World BWS Day

April 6 is World BWS Day.

World BWS Day is a day dedicated to bringing awareness to Gracie's rare genetic condition.

Never heard of it? Well, fun fact, we never heard of BWS until one of our favorite neonatologist at Yale brought the possibility of a diagnosis to us. Even he, who knew some of the physical characteristics, had only seen a handful of older children with BWS in his 30+ year career. And none of them required the medical care Gracie did. 

 

What is BWS? 

BWS or Beckwith Weidemann Syndrome is a spectrum syndrome that is caused by a misprinting of the 11p chromosome. 

While in some instances, BWS can be passed down from a parent, the majority of cases are not.  Gracie's type of BWS (IC2 Loss of methylation) is not a duplication or a deletion of any chromosomes, so therefore it did not come up on any of the extensive genetic testing we had done prenatally. 

It is so rare that our MFM didn't even know to test for it, although once diagnosed we realized that it accounted for many of the prenatal abnormalities we experienced. 

It totally explained everything! 

The good news, BWS does not affect cognition and typically, children with BWS grow up to be healthy adults. 

BWS is rare! It occurs in approximately 1 in 11000 births, but when you account for assisted reproductive technology (ART) pregnancies (hello fertility treatments), the number increases. Some literature even suggests a number as high as 1 in 1200 births. 

That is quite the difference. 

Side note: Gracie was a spontaneous pregnancy during a fertility treatment break. We took a three month IVF break and I ended up with a positive pregnancy test the week I was to go back and start my next IVF round, but fertility treatments and the increased risk was so drastic to me (and close to my heart) that I knew I had to mention it. 

So if they grow up to be healthy adults then who cares? Why is awareness important if it is so rare? 

BWS results in an increased risk of childhood cancers until the age of 8. Children who are diagnosed undergo blood draws and abdominal ultrasounds every 3 months to closely monitor them.  

Many children who have milder cases of BWS may never be diagnosed, and therefore never monitored appropriately. 

Another BWS warrior we have connected with were completely blindsided by a BWS diagnosis long after birth. Their child was almost two when they were finally diagnosed. A diagnosis only came when the child was diagnosed with cancer. Had they been diagnosed earlier and closely monitored, cancer may have been caught sooner. I am happy to report little one is in remission and completely adorable! 

Unfortunately, this is not an uncommon story. Families upon families have similar tales of children having many physical characteristics of BWS, but not receiving a diagnosis. Some doctors even go as far as to advise mom's to stop googling 🤯

This makes me even more grateful for the amazing care we have received and the knowledgable doctors who knew enough to test for it. 

Ok, so we can all agree BWS, while rare, is extremely important. What are the signs you might ask? Well there are many physical signs and symptoms of BWS. 

The cardinal feature is macroglossia, or an enlarged tongue. Gracie had this and underwent tongue debulking surgery as her tongue was so big that it obstructed her airway and impeded her ability to orally feed. She hardly kept her tongue in her mouth and she was so unbelievably uncomfortable. 

Pre surgery 

Post 

I encourage you to learn about the other signs and symptoms by watching this short but super informative video from CHOP: 

For more information on BWS please visit the link below. The team at CHOP are the leading researchers and source of information for our girl and any other friends with BWS. 

BWS at CHOP 

We were extremely fortunate to have received some of the best medical care on the planet with people who have literally devoted their entire lives to Beckwith. So we wore green and yellow for Gracie and all the other BWS warriors!  

I am by no means a medical professional, just a medical mama who has dove DEEP into her daughters diagnosis. Hopefully days like April 6 will bring awareness and education to those who don't know much about it and in turn, save some kids lives!