A guest blog post: Meet the Charlebois Family
I’d like to start this off by introducing myself! My name is Crystal, I am from Ontario, Canada where i live with my little family, my husband Shaun and our 3 beautiful daughters, Cherokee (7), Grace (6) & Lennon (23 months, BWS). I guess our BWS story begins with my pregnancy with Lennon.
Where it all began
Lennon was conceived May 2018, it started out like my other pregnancies, light morning sickness, nothing too much, but things started to change around 16 weeks. I started to show around then, it was my third pregnancy, I expected to show early, but I was so sore, all the time, like third trimester sore! then around thanksgiving (canadian thanksgiving is in early october) I blew up and continued to blow up! I was measuring at full term at that time 36cm, and by the end of my pregnancy my belly measured 47cm (pretty close to term with twins!), I learned that I developed Polyhydramnios (an excess of amniotic fluid, commonly associated with gestational diabetes).
I became too high risk and was transferred from my midwives to an OBGYN that specializes in high risk pregnancies. I was tested for gestational diabetes 3 times and was negative all 3 times. My dr wanted to find the reason that I developed Polyhydramnios so I was sent to have specialized ultrasounds in Toronto (4hrs from my home city). At those ultrasounds were where we saw a handful of her BWS traits in utero. She has enlarged kidneys bilaterally, Hydronephrosis bilaterally, enlarged pancreas and an enlarged tongue, they offered to do an amniocentesis but we would’ve had to travel again for it but by that point i was 30 weeks ish and i didnt want to risk rupturing the amniotic sac and giving birth in a city i didn’t live in. I still wonder whether or not we would’ve known about her BWS had we gone through with the amniocentesis.
Scariest yet happiest moment
I was monitored pretty regularly throughout the rest of my pregnancy and was induced at 37 weeks 6 days. She was born on January 19, 2019, the coldest day of the year that year (- 41! brr!) i was 4cm dilated when i went in and she was born within 3 or 4hrs of being induced she was 8lbs 9oz. She was born limp (hypotonic) and not crying, it took a good 3 minutes to finally cry, it was one of the scariest moments of our lives, her heart was beating extremely fast when she was born which is what got her admitted to the NICU.
The first 5 days in the NICU she struggled with Hypoglycemia, at 2 days old we met with the attending Pediatrician,who has been our Pediatrician ever since, she wanted to do some genetic testing on her because she noticed some physical features (enlarged tongue, wide set eyes, low ears, ear pit, high birth weight, single palmar creases on both hands, most of these are classic markers of BWS), coupled with the issues we were already experiencing that led her to believe that something could be wrong, “it might be something, it might be nothing, but it’s worth a look” is what she said, she never mentioned BWS specifically so we weren’t sure what to expect.
The day before she was born our hospital was hacked which made it take a month and a half to get the results of the genetic test, she was officially diagnosed at 2 months old. We were scared, we had never heard of BWS before, but at the same time we were relieved because now we knew what was happening with our baby girl! She got her very first cancer screens at 3 months old. Around 6 months old we noticed that Lennon had Nystagmus, we were referred to an optometrist, she discovered that Lennon is visually impaired, along with Nystagmus she also has Optic Nerve Atrophy in both eyes.
She also started physical therapy around the same time, her hypotonia has left her 3-6 months physically delayed, we also discovered shortly after that, that she has hypermobile joints, she’s been doing well, she’s now learning how to walk and stand. around 8 months old she started occupational therapy, she’s around 7 months delayed in that area, through OT we also discovered that she has lots of sensory needs, it was explained that she doesn’t process sensory input like everyone else and needs increased sensory input as a result. Lennons feeding issues may also be in part due to her sensory issues as well, we’re on the waitlist to see a feeding specialist, Covid made that wait list a lot longer!
All in this together
BWS has been a journey so far, it’s been confusing, scary and anxiety inducing. Knowing that i’ll be educating people about BWS for the rest of my life has been an interesting realization. Knowing there are other families out there going though similar struggles with their kids has been comforting. Being a special needs parent is strange and isolating at times, but also rewarding, i wouldn’t change my little BWS babe for anything in the whole world!
Live Large & Stay RARE.
For more information on BWS please visit https://www.chop.edu/centers-programs/beckwith-wiedemann-syndrome-clinic