Beckwith-Wiedemann Syndrome/Spectrum (BWS) is a rare congenital growth disorder typically characterized by overgrowth. BWS occurs in approximately 1 in 11,000 births. The severity of this disorder varies by individual, which is now be viewed as a spectrum. Some children have all the characteristics, while some only have a single characteristics. Some children who have milder characteristics of BWS may never receive a diagnosis. BWS signs and symptoms include a large size at birth, macroglossia (large tongue), hypoglycemia (low blood sugar), taller than-average height during childhood, hemihyperplasia (overgrowth of one side or one part of the body), defects of the abdominal wall, enlarged abdominal organs, and earlobe/behind the ear pits and creases. BWS leads to an increased risk of childhood cancers, most commonly Wilms tumor (kidney tumor) and hepatoblastoma (liver tumor). Children diagnosed with BWS frequent a team of specialists to ensure their health and wellbeing. Routine cancer screenings and bloodwork are completed every 12 weeks to allow for proactive treatment as needed.

CHOP BWS Resource

Boston Children's BWS Resource

To learn more about Beckwith-Wiedemann, please visit BWS Resources.

Beckwith Wiedemann Syndrome

Story of Born With Strength

Founders of Born With Strength, Allison and Chris received their greatest blessing on Thanksgiving Day in 2023. Shortly after Adeline's birth, Allison and Chris received the challenging news no parent is ever prepared for....Adeline was diagnosed with Beckwith-Wiedemann Syndrome. Following the diagnosis Allison and Chris sprung into action to gather the best team of specialists to support Adeline. Adeline's future remains unwritten, however we are confident in the medical team supporting her. Adeline has already demonstrated so much resilience with the number of visits to specialists, blood draws, ultrasounds, and wires she has been hooked up to in the few months she has been earth side. Born With Strength was created for you to join in our journey as we navigate this new diagnosis. Adeline's future remains bright as she continues to be the resilient little girl that she is. Adeline was Born With Strength.

Beckwith Wiedemann Syndrome Causes

Did you know that there are a number of reasons why I could have received a diagnosis of BWS? It all comes down to genetics! Boy, my mom has learned so much about genetics over the past few months. I have one of the most common cases of BWS occurring in 40-50% of diagnoses. According to the genetic testing and how my doctor Dr. Kalish explains it, I have the type where a methylation defect occurred at chromosome 11p15. This happens randomly because of something called epigenetic. There was nothing that my parents could have done differently when trying to conceive and was a random occurrence that I was born with BWS. You are probably asking, what is a methylation defect? Methylation defects could add or delete a mark, which would result in a gene being “turned on” when it should be “turned off,” or “off” when it should be “on.”

The table on the left indicates the various causes for BWS, which was helpful when learning about the initial diagnosis. The various types of BWS indicate the potential for common occurrences/risks i.e., childhood cancer, etc. My genetic testing showed that I had a loss of methylation at IC2.

Resources to learn more about the various causes of BWS:

Table on Left : Genetic Testing Used

CHOP: Beckwith-Wiedemann Syndrome

How can you support Born with Strength?

In 2023, the Founders (Allison & Chris) of Born With Strength received their greatest blessing, their daughter Adeline was born on Thanksgiving Day. Within 24 hours of delivery, Allison recognized that Adeline had a large tongue and at rest was protruding from her mouth. Quickly after delivery Adeline presented with feeding challenges which impacted her ability to breastfeed and drink from a bottle. Allison requested lactation support recognizing Adeline was not receiving sufficient nutrition at this time and there was no way as a new mother that they were going home from the hospital without receiving adequate nutrition

These concerns were brought to to the attention of the nurse and pediatrician 24 hours after delivery. Fortunately, the pediatrician on call was well versed in recognizing rare genetic conditions also called zebras. This is when Allison and Chris first found out that Adeline could potentially have a rare genetic disorder. Talk about a shock as new parents! In disbelief, Allison and Chris determined there was no way that their perfect daughter Adeline could have such a thing.

The pediatrician jumped into action and ordered two randomized blood draws to test for hypoglycemia which is a common feature children with BWS experience when born. Adeline completed her two blood draws and both tests came back with her blood sugars within normal limits. Surely this confirmed again to Allison and Chris that there was no way that Adeline could have a rare genetic disorder.

Allison determined a 3rd night in the hospital was necessary before discharge because Adeline was still not taking a bottle or able to breastfeed. On the final morning Adeline continued to struggle with bottle feeding but was slowly getting the hang of it. It was time to go home.

Adeline continued to struggle with drinking from a bottle for two weeks post discharge. Allison and Chris booked another appointment with lactation. Why? Bottle feeds were taking upwards of an hour at each feed and Adeline was vomiting her bottles . The Lactation specialist realized Adeline's feeding challenges were beyond her ability to support. Adeline was referred for a developmental evaluation for feeding support to occupational and speech therapy, in addition to a pediatric dentist., Adeline first saw the pediatric dentist who specialized in tongue and lip ties. Adeline was lucky enough to receive an appointment within a few days and had an upper lip tie revision completed.

Following the lip tie revision, Allison remembered that she received a bottle from MAM International in a welcome box and thank god she did! This is what allowed Adeline to be successful when bottle feeding. Adeline successfully drank a bottle for the first time in 20 minutes and was able to increase her nipple size to allow for more efficient feedings. Adeline continues to have challenges while drinking from a bottle due to poor lip closure from her tongue, however her feeding is functional and that is all that matters because she is getting the appropriate nutrition needed to grow. (We might change our clothes a few extra times a day from all the leakage, but it is worth it!)

Time to fast forward! Adeline completed her one week old newborn visit at their pediatricians office, however Adeline still has not received a formal diagnosis from the pediatrician. Allison and Chris were still in the grey about Adeline's condition and contemplating whether or not to bring it up to the provider. Allison and Chris did not bring up the potential of BWS at the 1 week appointment and the provider did not either. (We were certain again we were in the clear!) At Adeline's 1 month follow up appointment, Allison and Chris presented their concerns to the pediatrician abut Adeline's feeding challenges, reflux, tongue and what the hospital pediatrician shared about the potential of BWS. At this visit Adeline was working with a new pediatrician. This pediatrician was EXACTLY who and what we needed. She was proactive and placed the order for genetic testing instantly with no questions asked to rule out BWS.

THE TEST RESULTS ARE IN! On December 27th, 2023 Adeline received a positive test result for Beckwith-Weidmann Syndrome. This did not come as a surprise to Allison and Chris after all their time searching the web for a month about BWS. Chris and Allison anticipated these results and what would come next for Adeline after learning more about Beckwith-Wiedemann Syndrome. The hardest thing to process within the diagnosis was finding out that their child could be potentially impacted by childhood cancer.

Next Steps for Adeline Chris and Allison learned that Nicklaus Children's Hospital and Children's Hospital of Philadelphia (CHOP) are known for their Beckwith- Wiedemann Syndrome Specialty Teams. Adeline will be working with the team of providers at CHOP to ensure she receives the best care possible. To date, Adeline has completed many rounds of preventative cancer screening through ultrasounds and blood work, two sleep studies with the first set of results requiring oxygen to sleep at night, a visit with the ENT, 2 consultations with plastic surgery and genetics in Philadelphia at CHOP. Adeline's has also been receiving early intervention services for feeding and speech therapy

Purpose: Allison and Chris share this page with all of you to bring awareness to all of those who are experiencing the walk of life with Beckwith-Wiedemann Syndrome and supporting a loved one through this journey. Their goal in this page is to highlight all of those BORN WITH STRENGTH like Adeline because these warriors are resilient and to highlight the ongoing medical complexity and care that our BWS children require. Receiving a diagnosis of BWS comes with a price tag from the number of ultra sounds required per year to screen for childhood cancer. Chris and Allison's goal would be to support a family with their medical bills annually as a way of giving back to this community.

Adeline's journey is just beginning with a bright future ahead. Allison and Chris know that she was BORN WITH STRENGTH and will tackle anything that comes her way. We are so grateful to build this community and for you all to follow along. There will be ups and down and we know you will all be right there alongside us! Follow to learn more about her progress & updates!

Get in touch

It means so much to hear your thoughts and feedback. If you have questions, ideas, or would like more information, I would love to connect with you. Send a message anytime, and I’ll respond as soon as I can. You can also stay in touch through social media or email me at bornwithstrength@gmail.com