Addisson

Meet our daughter Addisson. She is the sweetest little girl a mother could ever ask for, and you couldn’t even tell she has anything going on. My pregnancy was flawless, no issues, nothing alarming and was completely normal. April 8, 2021 she was born via C-Section as she was in the breech position. The day after she was born, she was rushed off to the NICU due to hypoglycemia, however they were able to get it under control that day. The next day though she was having episodes that I already knew were seizures, but the nurses and doctors didn’t think I was correct. She continued to have these episodes but they told us everything was fine and we were released home. The next morning at our house, she became unresponsive and a quick call to 911 and she was carted off to Yale Hospital. An EEG confirmed she was having seizures and she was admitted to the pediatric neurological floor for closer monitoring. She was seen by a genetics group and was tested for thousands of genetic issues. After a month of being in the hospital, they found an anti-seizure medication that helped stop them and we were finally able to go home. After a few weeks of being home, we got a call from her genetic team and we found out she has PACS2. This causes a multitude of delays and that it is very diverse in how it effects each child. We were learning quickly Addie was having delays with fine and gross motor skills, eating problems and digestive issues. She has trouble grasping objects, not eating as she should, not crawling/walking yet, and not saying many words. She is linked up with occupational therapy, physical therapy, and speech therapy to help with her difficulties. Though she has made wonderful progress, we are able to see the effects of PACS2. She also sees GI, sleep specialist, and other doctors to ensure she is getting the best possible care. It is a lot, but we would do anything for our baby girl. We don’t know what her future is going to look like as there is not a lot of research on PACS2, but we are ready to tackle it as best we can. ​

 

Phenotype as of Apr 2022:

- grand mal seizures (since 7 months seizure free)

- delays with fine and gross motor skills

- eating problems + digestive issues

- disturbed eye-hand coordination

 

Treatment: Onfi (clobazam) 2mg x2

 

Therapies:

- occupational therapy

- physical therapy

- speech therapy

- gastrointestinal specialist consultations

- sleep specialist consultations