Céline was born August 10, 2016 at 7:23pm in my bathroom, expectantly. I began having contractions at 3:30am that day, but they were light and inconsistent. We went to the hospital at 9:00am to get checked, and I was only dilated at 1 cm so they sent me home and told me to come back when the contractions were consistently 5 minutes apart and felt different. I went home and worked all day (I teach high school English from home on a computer), and about 5:00pm my contractions got worse, but again, not consistent. I had my husband, Kevin, drive me to a prenatal yoga class, which I thought would help distract me from the pain. The contractions got worse halfway through class, but of course, I had him drive me home, so we could feed our 2 year old son before heading to the hospital.
Within 15 minutes of being home, my water broke on the toilet, and I frantically told my husband to call 911, while our 2 year old was strapped in his high-chair screaming. My husband ran back and forth between the bathroom where I was, and the kitchen, where our son was. The 911 operator told me to get off the toilet and lay down on the floor. Before I could lay down, as I was standing up, I had one more big contraction and out the baby came onto the floor. My poor husband had to tie off the umbilical cord and try and comfort our son, while getting a towel to wrap the baby in. The ambulance arrived about 5 minutes later, checked us both out, and took myself and the baby to the hospital. My husband was left behind to clean up the bathroom, and take care of our son, while he waited for my mother to arrive (she was an hour away).
At the hospital, they checked Baby Céline over, and told me she would need to go to NICU for the night because she had hit her head during delivery and they wanted to do several tests (a CT scan)and keep her under observation for the night. It was very hard being separated from my baby, but I went and saw her every 2 hours to nurse her. The next morning another doctor looked at her and determined she needed further testing which involved an eye test, ultrasound of the liver, and an MRI of the brain. They told us that evening that if the tests were normal, she could be brought to stay in my room with me. At midnight, they told us the tests were normal and they brought her to me.
The next afternoon, our pediatrician came to the hospital to check her over, and she delivered us heartbreaking news. It turned out that the radiologist who read the MRI results in the evening, did so incorrectly. A pediatric radiologist re-read the test in the morning and we were told that Céline has abnormal blood capillaries around her brain, which is associated with a condition called Sturge-Weber Syndrome. This is a very rare condition that is caused by a gene mutation during cell division in utero during the first trimester, and is not inherited from either parent.
Céline now has a team of six doctors caring for her: a pediatrician, three neurologists, a dermatologist, and an ophthalmologist. She also has a physical therapist & occupational therapist from Early On. Right now, her motor skills are a little behind, but otherwise she is a normal, happy girl. She is participating in clinical research studies at Detroit Children’s Hospital that involves yearly MRI & PET Scans that look into the brain in more detail. We are lucky to have two hospitals in Michigan that are part of the Sturge-Weber Syndrome Clinical Care Network. She is also participating in two research studies at the Kennedy Krieger Institute in Baltimore, Maryland, directed by Dr. Ann Comi, the doctor responsible for discovery the cause of SWS in 2013. We are excited to share with Dr. Comi’s team, the CD-ROM of images from 32 week 3D Ultrasound at Lansing Community College that I did for fun. In the photos, you can see the birthmarks on Céline’s left arm and face, as well as her swollen left eye that indicates that she had glaucoma in the womb. We are hoping these images will help the team with their research for early diagnosis of future children.
One of the first signs of Sturge Weber Syndrome are large port-wine stain birth marks that are on one side of her body, and most severe on her face and head. With several laser treatments, it is possible for the facial marks to fade, and they have been, but she will need laser treatment throughout her life. She has had 8 treatments so far and has one every 4-8 weeks. The condition also can cause her to have seizures throughout her life as well as cognitive delays, which means she could have learning disabilities. Her biggest challenge is she has also been diagnosed with glaucoma in her left eye, which can lead to blindness. Treatment includes regular eye drops and multiple surgeries. She had her first surgery at three weeks old, her second at five weeks old, and her third was at 6.5 month old, when she got another goniotomy and a tube shunt put into her eye, to help keep it open, so the pressures will stay stable. The tube should last 10-15 years. She started wearing glasses at 5 months old.
Thankfully, Children’s Special Health Care Services, a secondary health insurance plan, has been able to pay for the medical bills that our insurance does not cover. In July 2017, Céline , Kevin, and I were blessed to receive a scholarship to attend The Sturge-Weber Foundation International Conference in Cincinnati, Ohio. It was our first time participating in this event. We only had a 4.5 hour drive, while some came as far as California! The conference was an amazing opportunity to meet top neurologists, dermatologists, and a dentist who specializes in SWS. We were able to tour a research lab at the Cincinnati Children’s Hospital that uses mice to try and recreate SWS, in hopes it will lead to a cure. In addition to hearing doctors share their latest research & recommendations, we learned more about the Foundation, and met so many wonderful families who can relate to the struggles & uncertainty of this progressive disease. Some of the highlights of the conference was the Route to the Cure walk to the Cincinnati Zoo & Botanical Gardens, meeting Karen Ball, Foundation creator, and discussing Céline ‘s newborn MRI & records with Dr. Ann Pinto of Boston Children’s Hospital, Dr. Chughani of duPont Hospital in Delaware (previously Children’s Hospital of Detroit where he developed the first PET scan), and Dr. Burkhart of University of North Carolina one-on one. It was truly a life changing experience, where we now feel that we are not alone in this rare syndrome that affects 1 in 40,000 children. We are incredibly thankful for this opportunity.