Her story

In October 2021, Adam and I welcomed a beautiful baby girl, Evelyn Rose, into the world. Evelyn was already so loved by her family, especially her big brother, Jackson. I always dreamed about having a baby girl.

Evelyn began with some feeding difficulties and reflux early on in her life. When Evelyn was about three months old, we began noticing a few things that seemed off. She seemed delayed in all milestones, including visually. She had trouble making eye contact and tracking. We were referred to Early Intervention and began with physical and occupational therapy. Our first specialist was an opthamologist. Since the structure of her eyes looked fine, he felt it was delayed visual maturation. I remember feeling so relieved and hopeful. I felt like I needed to be patient for things to start happening and always hoped she would catch up. I stayed up googling constantly and looking for reassurance. However, days went by and we still had concerns.

In March 2022, after another pediatrician visit and voicing some more concerns, we finally got a referral to see a neurologist. We traveled down to Children’s Hospital of Philadelphia where Evelyn had her first EEG. I remember writing a long list of questions and everything that led us up to this moment. While we were in the room, our doctor’s phone rang. I remember overhearing so loud and clear "Evelyn's EEG is showing signs of infantile spasms and she needs to be admitted immediately for further testing". Our hearts sank. Infantile spasms is a rare form of epilepsy, usually caused by a structural or genetic abnormality. Evelyn’s spasms presented as a subtle shoulder shrug, making it difficult to decipher actual seizure activity from reflux or normal newborn movements. Evelyn was admitted to CHOP on the Neurology floor and the testing began.

We began aggressive treatment to combat the spasms. A high dose steroid was given for a three week period. Evelyn lost her smile for the whole time she was on steroids. It was so hard to see. Unfortunately, after a follow up EEG, the spasms were still present. We signed off to start a new drug, vigabatrin, which is a front-line medication to treat “IS”. We had to consent to this drug as it can rarely cause an adverse effect of peripheral vision loss. Our thought process at this point was saving her brain, as the lasting effects of IS can be detrimental. 40 hours into this drug we noticed signs of respiratory distress. She could not suck a bottle and she was having episodes of apneic breathing. We rushed her to Doylestown Hospital. Before I knew it, Evelyn was surrounded by 15 doctors and nurses in the tiny emergency room. Evelyn was experiencing bradycardia (low heart rate) and apneic breathing. Working quickly, they drilled intraosseous access into the bone in her leg so they could administer emergency medication in her as quickly as possible. She was intubated and given two doses of atropine to bring her heart rate up. Evelyn was airlifted by helicopter to CHOP that night. Unfortunately, we were unable to go with her. I will never forget driving in silence to CHOP as we feared the unknown and waited for the call that the helicopter landed safely.

After she arrived to CHOP, more tests began. At this time, we were still awaiting the genetic testing. Cat scans, lumbar punctures and countless blood tests were run. The team told us they have never seen an adverse reaction to this drug before. While Evelyn was in the PICU and hooked up to the EEG, they told us the drug was working since they no longer saw the spasms. Though by the end of the week, after a follow up MRI, It showed a small spot on her brain. This correlates to drug toxicity which typically reverses after the drug is out of the system. Evelyn stopped this drug immediately. Evelyn had a PICU stay of 12 long days. After coming home, we were so happy and fortunate.

Once home, Evelyn began gaining her strength back. We began feeding her pureed food and she started tracking objects. I remember thinking "wow this is a miracle". Evelyn was on a bridge med while we were waiting for the steroids' to get out of her system. This new medication was causing eye rolling movements that I have never seen before. I took her to CHOP ER and she was admitted and hooked up to an eeg. Luckily, these eye movements were not seizures. After rounds, they told me that Evelyn's Neurologist was planning on stopping by at 3, and asked if I wanted Adam to be there. Immediately I asked them if they had any news regarding the genetic results. They didn't say much, though I just knew it was something.

At 3:00, Her Neurologist was right on time along with 2 genetic counselors. We all pulled up chairs and sat in silence for a few seconds which felt like minutes. My heart was pounding. I was told Evelyn's results were back and that she has Angelman Syndrome. My whole world froze and my heart sank. I listened quietly as I had never heard of this before. They told me in a gentle way but I was not prepared for this. "Will she talk, will she walk, will she go to school?”... Are a few of the many questions I remember asking. I was given a large packet of information but I wasn't ready to open it. I called my Family and began telling them what I was told.. and that's when it hit me :(

I spent days grieving a life that we all hope for our children. School, marriage, children of their own, etc. I think the future is what scared me the most. I connected with Facebook groups and began connecting with other parents. In May 2022, we did our first Angelman walk down at Boathouse row. We met more amazing families and kids. This is not the diagnosis we anticipated, but having a diagnosis set us on a path. There is always HOPE. I choose a perspective that helps motivate me to get Evie where she needs to be. Sometimes I have to remind myself of that perspective, especially on the most challenging days.

Fast-forward as I am typing this in September 2022, Evelyn has been on a medical ketogenic diet since May. This diet has been successful with preventing seizures and normalizing her brain waves. She has been more alert and making huge progress in gross and fine motor skills. She is visually tracking and makes eye contact. She enjoys going to the pool and floating in her pink flamingo float. She is playing with toys, rolling from side to side and gaining better head control. She is trying new foods in puree form. She is smiling, laughing and thriving! And we are just so blessed.

Thank you for reading Evelyn's story and thank you to everyone who has prayed and supported us during this time. We are forever thankful for all the love and support. Our biggest wish is for Evelyn to reach her highest potential in life. Our mission for Happily Evie After is to do just that!