Raelynn's Story~ Told by Breelin Eddy (Mother)

Raelynn was born July 11, 2020 in Murrieta, Ca. When I was pregnant with Raelynn, my doctors noticed I had a single vessel umbilical cord at my anatomy scan check up. They did genetic screenings and monitored her heart throughout my pregnancy and assured me she was a healthy baby. The day Raelynn was born the doctors said they couldn't tell I had a single vessel cord because Raelynn was a beautiful and healthy baby girl! The day she was born was so memorable and beautiful; not to mention it was also my husband and I's 5th wedding anniversary. I'll never forget the nurses yelling "Happy Birthday!" when she was born and then laid her on my chest. We were discharged 24 hours after she was born and were able to take her home to meet her 2 year old sister, Reese. 

The first week after we went home, we took her to her first well visit and the doctor noticed a heart murmur. Raelynn was also not gaining weight well; feeding was very challenging for her. We took Raelynn to the cardiologist where she was diagnosed with a VSD- Ventricular Septal Defect, a small hole in her heart. This news was absolutely devastating to me, although the doctor assured me it would most likely close on it's own. 

I don't remember exactly when, but shortly after Raelynn was born I started to notice short "episodes" she was having where her body would stiffen, eyes would deviate to the left, she would turn slightly purple in the face/ hold her breath and then cry~ the same cry every time. These episodes she was having were very brief, only 1-2 seconds long. Some days she would have 2-3 episodes and others she wouldn't have any. However, I knew something was wrong. 

On July 23, 2020, when Raelynn was 12 days old, my husband and I drove Raelynn to the ER because of the episodes that were occurring. I knew in the back of my mind that Raelynn was having seizures, even though I truly didn't want to believe that was the case. Because of my explanation of her episodes (eyes deviating to the left), the ER had Raelynn transferred down to Rady's Children's Hospital for the night to monitor her. Multiple doctors and nurses evaluated Raelynn and diagnosed her episodes as acid reflux. They taught me new positions to breast feed Raelynn and told me to hold her up on my chest after she ate for 15-20 minutes before laying her down. I remember sitting in that hospital chair holding Raelynn on my chest and she would have an episode of what they told me was acid reflux. I wanted so badly to believe they were right and I kept telling myself "It's ok Bree, its just reflux. Adjust how you are holding her and she will be fine." We were sent home the next day. 

Despite my efforts of trying new ways of breastfeeding, the episodes continued when we got home. I ended up calling Raelynn's pediatrician and ordered an EEG, because although I didn't want to believe she was having seizures, I knew she was and wanted to be sure. Due to the COVID-19 Pandemic, Rady's required Raelynn to get a COVID test before she could get an EEG done. On July 30, 2020, when Raelynn was only 19 days old, I took her down to Rady's where I had to drive up to a drive thru tent so Raelynn could get COVID tested. The COVID test made Raelynn extremely upset. I quickly pulled into a parking spot and pulled Raelynn out of her car seat to try and calm her down. Right then, she began to have a seizure in my arms. I started to feel like I was crazy. I had just been to Rady's the week prior and they witnessed her episodes and told me it was acid reflux. I drove home to my daughter Reese and my mom who was watching Reese for me. The whole drive home Raelynn was having episodes and I was starting to panic. When I got home to my mom, I remember breaking down crying to her and telling her something isn't right. My baby was not ok. I ended up calling 911 that day. Thank God I did because her seizures were becoming more frequent and she would stop breathing. I'll never forget having to count her breaths with the 911 operator, and getting prepared to do CPR on my tiny baby girl. I truly thought my baby was going to die in my arms that horrific day. The ambulance arrived to our home and transferred Raelynn and I  to Rancho Spring Hospital. Raelynn had 20 seizures that day before they could get them to stop. She was transferred down to Rady's Children's NICU where the series of tests began. She had CT scans, MRI's, bloodwork, EEG, spinal tap, genetic testing, etc.  The doctors and nurses were doing everything they could to figure out what was going on with our baby girl and why she was having these seizures. I couldn't do anything but pray to God that we would get answers as to what was going on with our Raelynn.

On August 3, 2020, when Raelynn was 23 days old, our prayers were answered. Raelynn was diagnosed with a rare genetic disorder called PACS1. The genetic doctor told my husband and I that PACS1 is a de novo mutation on the PACS1 gene which means it didn't come from my husband or myself but is simply a mistake that occurred when her DNA was formed. We were informed the disease is very rare, there is no cure, and there was very little research published. What they could tell us is her seizures were occurring because of this mutation. They told us according to the research, most children with PACS1 start to walk between 2-5 years of age , have delayed or no speech, seizures, feeding issues, various medical issues (heart, eyes, etc.) have Autism like behaviors, and most will require life long care. I can't really explain how it feels to receive news like this about your newborn baby. You have to experience it to really know and understand. But, it's life changing. Despite the long list of negative symptoms caused by PACS1, I chose to focus on the fact that the doctor said we were very lucky to be receiving an early diagnosis because early intervention would be very helpful for her. 

On August 5, 2020 we were discharged from the hospital. I was sent home with a list of 10 specialists I needed to call and make appointments with as well as Regional Centers phone number so we could start therapy right away. To date, Raelynn has seen over 20 specialists and receives therapy multiples times per week. Between medical and therapy appointments, Raelynn averages about 15-20 appointments per month. Raelynn is approximately the 157th individual in the world to be diagnosed with PACS1. Currently, there are approximately 185 individuals in the world with a PACS1 diagnosis. 

Raelynn will turn one year old on July 11, 2021. Raelynn is the happiest baby girl, and her smile and laugh are contagious. Although Raelynn is doing very well, and has benefited tremendously from early intervention, it has been quite a year. She struggles with milestones that come so easily to typically developing babies. Every move Raelynn makes has to be taught and repeated multiple times until she masters is. Teaching Raelynn new skills is so challenging and requires a lot of patience.  Raelynn is the most determined baby I've ever seen. She pushes herself to learn and tries so hard every day. She is our miracle baby and we are so so proud of how far she has come over the year.

A cure for PACS1 would mean the world to our family. I would never want to change who Raelynn is, but if a cure could help Raelynn live a life with less doctor and therapy appointments and help her to reach milestones more easily, we would be forever grateful! No baby should have to go through what Raelynn has been through and will continue to experience throughout her life. As her parents, it is very hard for my husband and I to see Raelynn struggle. Any parent can understand that. I pray that all of this has happened for a reason and that  one day we can help not only those currently diagnosed with PACS1, but also future babies diagnosed with PACS1 too. Please help us in fighting for our baby girl, Raelynn! She is so special and strong. We will never stop praying and fighting for you sweet angel!

YOU CAN HELP by donating to this campaign; donations to the foundation mean everything to our family;  100% of your donation will be used to support research that accelerates treatments for PACS1 Syndrome! 

The video below is a glimpse of Raelynn's first year! She brings us so much joy. We love you Raelynn girl!  https://youtu.be/T84Fu-Mm-z4