A Guest Blog Post by Chantal Woods
Hi! My name is Chantal and I live in Nova Scotia, Canada, with my husband and our two boys. Our BWS story started with a complete surprise when my water broke more than 4 weeks before my due date.
My pregnancy had been pretty uneventful except for having to repeat my 20 week ultrasound. The doctor had requested a better view of the heart, but I was assured everything was fine. I remember the technician making a comment that the baby was playing and sticking out its tongue, in hindsight this makes sense.
The doctor and nurses kept reassuring me that despite being 4 weeks early, I had a “good sized” baby in there and not to worry. 22 hours and 1 stuck shoulder later, they whisked my 9lb 12oz premie off to the NICU. Luckily the pediatrician working that day had some knowledge of BWS and our little boy’s bloodwork was rushed to genetics. Everything about Lucas was large; tongue, liver, kidneys, overall size. And to top it off he also had low blood sugar. He also presented with ear creases, birth mark on his forehead that faded, and his right side was slightly larger than the left. After the longest 18 days of my life (I only left the hospital twice for a few hours) we were finally discharged with a confirmed diagnosis of BWS.
My husband and I did our best to take it day by day and as the months passed, things got easier. We found solutions to challenges with breast feeding and bottle feeding, but monitoring for cancer every 3 months always felt like waiting for the other shoe to drop.
A repeated blessing
Lucas was about 6 months old when we finally had an appointment with genetics. We learned that a small deletion in DNA had disrupted the methylation process resulting in the “gain of methylation at IC1” subtype of BWS. The “>28% chance of childhood cancer” subtype of BWS. The doctor gave us the option to be tested as well and just before Christmas that year we found out that I carry that deletion too – meaning that I would have a 50% chance of passing it on to any future children. We had always planned on having at least 2 kids so this news was devastating, to say the least.
Lucas was 16 months old when we learned we were pregnant again. We were cautious and kept that news to a very close circle. We decided we had to know if this baby also carried the deletion and opted for an amniocentesis at 13 weeks. There were hundreds of questions running through our minds, but mainly; are we being irresponsible bringing a baby into this world with such a high chance of serious complications?
The genetic counselor called to confirm…the new baby would also have BWS. And it was a boy.
Never a need to be sorry
Our circle of friends and family who knew we were pregnant had grown over the weeks and as we started to relay the diagnosis, we received so much love and support and condolences. “I’m so sorry to hear that”, “I’m so sorry it’s not the outcome you’d hoped for”. And of course everyone meant well, but what I started to hear was “I’m so sorry he’ll be just like Lucas”. And that was absurd because Lucas was perfect. Happy, healthy, smart, funny, thriving. How could we be disappointed?
Lucas and I went to stay with my parents for the last few weeks of my pregnancy, since we live 4 hours away from the IWK Children’s Hospital. I went for weekly ultrasounds to keep an eye on his size but everything else looked great. Around 36 weeks the doctors agreed that I would be induced at 37 weeks and I was given steroid injections to help mature his lungs. I didn’t make it to my induction date because at 36w+5d my water broke. Delivery was fast, smooth, and uncomplicated and after 2 checks from the NICU staff, my 9lb 9oz premie, Parker was allowed to stay with me. He had a slightly large tongue and we can see now that his left side is a bit larger than his right, but had he been our first baby, I’m not sure anyone would have caught the BWS.
Still searching for answers
Some of my family members have done genetic testing to try and trace this deletion and it was discovered that my father carries it as well. But BWS is only expressed when the deletion is passed from mother to child, so I don’t have BWS. I’ve been in contact with Dr. Kalish and sent samples to her so we can learn more about our specific deletion, but things were put on hold with COVID-19.
We have learned about so much in the past 5 years from low blood sugar, to hypothyroidism, to kidney cysts, and speech therapy. We are very thankful for all the connections we’ve made in they BWS community and we are especially thankful for the love and support of our friends and family and feel so lucky to get to watch these beautiful boys grow.
Live Large & Stay RARE.
To watch Chantals previous Video on her story go to -> https://www.youtube.com/watch?v=d8vmwa398s8