Updated: Jan 6
Anastasia's journey begins at our 21-week anatomy scan and is told from the perspective of mom, Darcie. She is our first child, so everything was new - we did not know what to expect along the way. We were barely prepared for each new “typical” pregnancy milestone, let alone what was to come next… Not long after we left the ultrasound appointment, I got a phone call from my doctor's office requesting I come in the next day. When I inquired why (to see if my husband, Cooper, should be coming with me), I was informed it was likely for routine blood work. I went alone, unsure what to expect, but did not think it would be bad news as surely they would have told me to bring someone along … Unfortunately, I was wrong.
When my doctor walked in and began talking, I remember feeling like the world was crumbling beneath me. She was saying words I could not grasp like "Omphalocele" and "congenital defect" and "termination." She talked about a lot during this appointment, but honestly, I had what I can best describe as an “out of body” experience. It couldn’t be real, so I dissociated and truly felt like I was in and out of reality, watching someone else’s life unfold before me. During the rest of my pregnancy, we saw numerous specialists and heard all kinds of things - the scariest of these being that “chances were high that this child would have little to no quality of life” and were encouraged to seriously consider termination. This was not an option for us - we believed, and still do, that she was created for a reason and no matter her (dis)abilities, she had the right to life.
During my pregnancy, I experienced polyhydramnios (too much amniotic fluid) - so at 34 weeks gestation, I was measuring 42 weeks. I also had pre-eclampsia. At the time, I did not know this and wished I would have, but research has shown there is a high correlation between these pregnancy symptoms and the baby having Beckwith-Wiedemann Syndrome, which is what Anastasia ended up being diagnosed with (more on this to come).
Anastasia was born late preterm at 35 weeks gestation. She spent 45 days in NICU during which many things occurred - some of the most notable:
Anastasia was diagnosed in NICU, by genetic testing, with Beckwith-Wiedemann Syndrome (BWS). Essentially, this is an overgrowth disorder. Some of the major symptoms are macrosomia (large body size), macroglossia (large tongue), abdominal wall defects (Omphalocele and hernia), hemihyperplasia (one side of the body larger than another), neonate hypoglycemia (low blood sugar as an infant), stork bite (face/neck birthmark), and increased risk for certain childhood cancers.
Not every child with BWS will have every symptom listed above. Anastasia has mild macrosomia, macroglossia, Omphalocele, neonate hypoglycemia, and stork bite. Anastasia also has blood work every 6 weeks until she is 4 and ultrasounds every 3 months until she is 8 to screen for cancer as 1 in 10 BWS kids will develop cancer, typically hepatoblastoma and Wilms tumour.
Anastasia was born with an Omphalocele (or “O” for future reference). An O is a rare birth defect, occurring in 1/5000 pregnancies - in other words, about 1 baby is born with this per year in Saskatchewan. When babies are in the early gestational period (before 8 weeks), their organs develop in the umbilical cord, then transfer into their abdomen. In the case of our daughter, this transfer did not happen completely. Some of her organs remained partially in the umbilical cord, and partially in the abdomen. This can happen for a few different reasons: it can be isolated (unknown cause and this is the only defect), other physical malformations (other organs that have not developed properly), genetic abnormality (as is Anastasia’s case), or chromosome abnormality. She had surgery at 5 days old to repair this, and now has a scar where most individuals have a belly button.
While in NICU, Anastasia stopped breathing, turning gray and limp, dozens of times. We watched medical teams rush into the room to save our child more times than any parent should have to. This is a full story in and of itself and will have to be told another time, but finally, it was determined Anastasia was having obstructive apnea from her macroglossia and these episodes were a result of positioning. Once we learned how to position her, she was able to breathe around her tongue with the support of some additional oxygen due to ongoing partial obstruction, which she had both in the hospital, and at home for a few months after discharge.
Due to her hypoglycemia, Anastasia had to be on a strict feeding regime including certain time intervals and amounts. Between this, her macroglossia, and oral aversion due to intubation, medicine, and other mouth-based medical procedures, Anastasia was fed in part by bottle and ng tube both in the hospital and at home until she was ready to eat without support.
About 1 in 10,000-12,000 people in the world have BWS making it common enough that there are other families in our city with this, but uncommon enough that most people have never heard of it. Being a parent to a child with a rare disease means constantly having to advocate for their care. Sometimes, you may even know more about their condition than the doctors do - please do not be afraid to ask for a second and third opinion!
Because BWS is rare, it does not always show up on genetic testing - this is where a clinical diagnosis can be very important. Hepatoblastoma and Wilms tumour are rapidly growing cancers, but when caught early, have a very high survival rate. This is why screening is so frequent and so important!
In the 3 years since then, we have had many hurdles including, but not limited to, query seizures, multiple sleep studies, cancer scares, and recently an asthma diagnosis. Our current challenge is determining the extent of current and long-term complications from macroglossia and what options we have for this. With BWS, medical challenges seem to come in waves - sometimes the only thing we seem to be experiencing is her cancer screening, and other times we are seeing specialist after specialist.
If you ever need someone to talk to, or you have any questions about anything to do with our diagnosis and/or story, please do not hesitate to reach out. You do not have to do this alone. I highly recommend connecting with another family that has a child with BWS (or really any other medical challenge), whether that is myself, or someone else, as it was and is incredibly life-giving to have other parents who could relate to what we went/are going through.
With that, here are some resources about O’s and BWS that I have found helpful:
More BWS Stories: https://www.chop.edu/.../beckwith.../patient-stories
BWS Resources: https://www.chop.edu/.../beckwith.../health-resources
BWS Facebook Support Page: https://www.facebook.com/groups/78357624606/?ref=share
Omphalocele Facebook Support Page: https://www.facebook.com/groups/omphalocele/?ref=share