Darcie

I fell pregnant in 2016 and had the best pregnancy, all scans were normal except at 36 weeks when my water disappeared. Quite literally, as I didn’t leak any! Even though this had happened I still had to wait another week until Darcie entered the world through an emergency section. I was a first-time mum, but I just had a feeling that something was wrong, she was so lethargic and very swollen. At 3 days old I noticed seizure activity which I was continuously told was wind! I’m so thankful to the midwife who witnessed the end of one and this resulted in Darcie being admitted to the neonatal high dependency. Darcie had all manner of tests done and her ECG showed a lot of seizure activity, 18-20 a day!! The question was why and what was causing them?? When she was 6 weeks old, we eventually found a medicine called “Carbamazepine” which helped reduce her seizures and we got to bring her home. In the following weeks/months Darcie was in and out of hospital constantly due to feeding challenges (GERD). This eventually led to tube feeding and during this process it was discovered Darcie had a floppy windpipe causing stridor (noisy breathing). Darcie has some slight distinctive facial features which lead specialists to believe a genetic cause was the underlying issue. When Darcie turned 3, we were invited to try a new genetic test known as TRIO Development Exome Sequencing which, amongst other tests etc, resulted in the PACS2 development disorder diagnosis. This disorder is so rare that there is very little known about it. We were told around this time that Darcie may never communicate, sit, crawl or walk but she astounds and delights us every day when she reaches some of these milestones, albeit later than most other children. Darcie is now 5 years old, she has been diagnosed epileptic and has breakthrough seizures when meds need to be increased or when she is unwell, she has delays with fine & gross hand-eye co-ordination and has a special wheelchair. Darcie can be very repetitive, still has issues with solids and eats foods blended smooth, any lumps cause boaking and extreme stress, she detests mess or spill especially on her hands or face. I must spoon feed her as trying herself just causes her distress and she’s not long in letting me know it! To date Darcie can stand unaided for a couple of minutes and we will be trying a new walking frame soon, (she does still prefer a bum shuffle). Darcie’s speech is coming along slightly but she more copies everything we say to her. Her understanding is perfect, she is a clever wee cookie, on the learning electronic games she loves numbers, colours and letters, finding delight in showing how she knows them. Her all-time favourite thing at the moment is anything vehicle related, she loves when her dad takes her to see the tractors and diggers at his work😊 She knows Makaton and some of the words she uses are understandable. We are fortunate that we have access to and help from health professionals like physiotherapy, occupational therapy, we also see a sleep consultant as Darcie has sleep issues and can be awake most of the night. This August Darcie will be attending a special needs school in our wee town, and we have every faith that her new school will help her to continue to progress with and achieve so many more milestones. We hope our story helps to give people a better understanding of PACS2 and a little more insight into how things are for Darcie. We are unsure of what the future holds, we know we have many obstacles in our path, but we have high hopes that our special little girl shall overcome them with that cheeky wee smile of hers firmly in place.