Bryn was born on December 25, 2000, with tons of curly hair, a sweet upturned nose, and the funniest little cry I had ever heard. She weighed 6 lbs., 8 oz, a fairly normal weight, but she a full two pounds smaller than her big brother, so she seemed tiny to me. She was the ultimate Christmas gift. Even so, my joy at my baby girl’s birth was tempered with concern when I was informed that her head circumference was abnormally small, she had a soft heart murmur, and her right eyelid was droopy (known as ptosis). Being a NICU nurse, I spent that first day with her trying to keep my anxiety at bay as I knew the potential meaning of each of those characteristics.
When I look back on Bryn’s early months of life, my memories are divided into two categories: one is the one that all mothers experience – complete and utter love, admiration, and awe that this little human had been entrusted to our family’s care. At the same time, I was worried because I knew something was not quite right. When she was three weeks old, I distinctly heard a heart murmur as I was burping Bryn high on my shoulder. A trip to the cardiologist confirmed that Bryn had mild pulmonic stenosis, both a small patent ductus arteriosus (PDA) and an atrial septal defect (ASD). All three cardiac defects, thankfully, were very mild. At that time, the cardiologist diagnosed Bryn with probable Noonan’s syndrome based on her curly hair, upturned nose, and ptosis of her right eye. Later we had genetic testing for Noonan’s, which came out negative. Eventually, all three cardiac defects resolved on their own.
Unlike my first child, Bryn grew very slowly. She was the first baby I ever knew who wore out her baby clothes before growing out of them! For a while, she was completely off the standard growth curve. She was exclusively breastfed and didn’t show outward signs of reflux, but she was very colicky for much longer than expected. I now wonder if it was reflux making her so fussy at night. When she was a week old, I had her in my lap after feeding her, and she became very pale and still. I listened to her heart, and it heart rate was extremely low. I immediately stimulated her and was able to bring her heart rate up, but looking back, I wonder if reflux caused the bradycardia (slow heart rate).
For most of her life, Bryn suffered most from neurologic issues. In her early months, Bryn developed periodic head tilts and was diagnosed with benign paroxysmal torticollis – a pediatric migraine variant. The head tilts lasted until she was around a year of age. When she was two, she had her first generalized seizure. At first, her doctors felt that the seizure may have been a one-off, but at age three, she started having strange startle-like movements as she drifted off to sleep. Her EEG showed that she had myoclonic seizures and was started on anti-seizure medication.
As Bryn approached her second birthday, I began to notice that her speech development was not progressing as expected. Unlike most babies, she did not babble and instead communicated through cooing, grunting, and pointing. I made a parent referral to our county’s regional center in California, where she was formally diagnosed with a speech and language delay.
To address this, Bryn received speech therapy with a wonderful therapist named Keith (whom Bryn hilariously referred to as “Eek”!). This therapy, along with physical and occupational therapy provided through the school system, helped Bryn progress steadily. However, it wasn’t until Bryn was around 15 that she began to use more complex words and sentence structures. Now at 22, you would never know that Bryn had a speech and language delay. Bryn also has a learning disability and auditory processing disorder and was in special ed classes through the end of high school. With the help of an incredible team of educators, Bryn was able to graduate High School with a diploma!
Throughout her school years, Bryn was plagued with neurologic issues. While we were able to take Bryn off of her seizure meds when she was 5 years old, she continued to have periodic episodes where she would lose consciousness and look like she was having a seizure. She had several EEGs, MRIs, and cardiac workups over the years without any significant findings. We were told that these were most likely syncope episodes for which she needed to drink lots of water and increase her salt intake. When she was a Junior in high school, she had several instances of extreme abdominal pain, followed by passing out and having a seizure. She sustained a concussion with one of these episodes. This time, an EEG showed seizure waveforms, and she was put back on seizure medication.
Right after Bryn graduated high school, we moved from the Bay Area in California to Colorado to be closer to family. Within a few months of moving, Bryn started to have very concerning episodes where she would become very dizzy and confused, and her vital signs would become unstable (sometimes with a high heart rate and high blood pressure, and sometimes with a low heart rate and low blood pressure). She was diagnosed with POTS, and then later, an adult neurologist diagnosed her with insular seizures. She was hospitalized six times in two and a half years and puzzled everyone because all her EEGs were negative for seizure activity. Her quality of life was terrible during this time as she couldn’t tolerate being upright for very long, and she felt terribly ill most of the time. This occurred during the early days of Covid, and because her doctors couldn’t find a clear medical reason for her symptoms, they suggested that these “spells” were anxiety related. However, as a mother and an experienced nurse, I knew in my heart and my head that anxiety was a by-product of her episodes, not the cause.
As we were navigating this medical journey, I started working at Children’s Hospital Colorado. I felt strongly that Bryn had some syndrome and knew that pediatric subspecialty care was what would help us get to the bottom of what made her so ill. With the help of some wonderful coworkers at Children’s, we got her admitted to the Epilepsy Monitoring Unit and, after a few more admissions, got a referral to Genetics. In September 2021, at nearly 21 years of age, we got the answer – Bryn has Cornelia de Lange Syndrome (NIPBL variant)!
From there, we discovered that she had complete intestinal malrotation with significant adhesions, and she had her repair in February 2022. Almost immediately after the surgery, Bryn’s episodes lessened significantly. After one of her first full meals after surgery, she said, “Mommy, I never knew that when you eat, you should feel the food go down and not up”.
Today, one year after her Ladd’s procedure, Bryn is doing so much better. Her neurologist believes strongly that Bryn does not have epilepsy-that her seizure-like episodes most likely were from her vagus nerve being stimulated and causing her to pass out and have seizure-like movements. They say that the gut is the second brain, so it makes sense that her malrotation was causing some of these issues as the vagus nerve runs from the brain connecting all the organs in the chest, abdomen, and gut. Bryn has been weaned off of all her seizure meds which have made a world of difference in her ability to think clearly. Though she has been diagnosed with hemiplegic migraines, she is working hard to determine her triggers to decrease the number and severity.
People have asked us what it is like to learn that Bryn had CdLS. I can honestly say that for me, it has been a God-send. For 21 years, I knew that there was something we were missing – something that, if discovered, would help inform her care. And now that we have the answer, it has given us a roadmap. I often wonder if I would have felt the same way were she a baby or toddler when we found out. I think not. I think I would have experienced much more fear and grief because when your child is a baby, their story is still unwritten. I can say that for me, not knowing for the entirety of her childhood was far worse than knowing. I wonder how much of Bryn’s suffering could have been alleviated had we known she had CdLS. I asked Bryn how she felt when she found out she has CdLS, and she said, “When I first found out, I felt happy, relieved, and shocked, but since I found out, it has been affecting me mostly positively. I don’t feel like we have to try new things all the time to find out what is wrong. I don’t have to take all those medications anymore. I sometimes wonder if I have a role to play within the foundation or with others with CdLS and their families”.
The Foundation has been so incredibly helpful to our family as we have sought answers to a million questions and navigated all the testing that needed to be done upon diagnosis. Knowing that we can reach out anytime and get expert support and answers is a comfort. Bryn attended the CDLS clinic in Baltimore this past October. It was so wonderful to connect with other CDLS families and to meet everyone who has helped us so much in one short year. Knowing that so many other families are navigating these waters has helped us feel not so alone, which is priceless.
Despite this long tale about Bryn’s medical journey, it’s important to know that she is so much more than her diagnosis. She is a funny, persistent, intelligent, sweet, and loving young woman. Instead of taking what others tell her at face value, she will research the subject and come to her own conclusions. She loves to watch movies and television shows (she loves slapstick comedy), spend time with her family, and read about living a healthy life. Right now, she is reading about healthy sleep habits! Her goal is to become a certified nursing assistant (CNA) so that she can work with ill children. Her quiet, sweet demeanor and knowing what it is to be a child with a chronic and serious health condition make her perfect for this line of work.
Bryn is the most resilient person I know.