Finley

Meet Finley, a true joy to her family from Texas.

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Finley is three years old and enjoys playing with her sisters and baby brother.  When not playing with her train set or stacking anything (toys, blocks, books) Finley can be rocking her pretty bows as she dances with her sisters.

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Born at a whooping 9lbs 6oz after a normal pregnancy, Finley seemed no different than her older sisters.  It wasn’t until she was about 4-months old that her parents realized Finely was not making her milestones at the same pace as their other children. Everyone thought Finley was a “late bloomer”.  They  were concerned about this, but not extremely alarmed. At her 6 month checkup she had still not met many milestones from 4 months. But her mom didn’t need the doctor to tell them that Finley was delayed, trusting her instincts she knew something was off. That was the first time “testing” was thrown out during conversation. By the time Finley was 9 months, her parents had already had her tested and started doing OT.

Finley was reaching milestones, but at her own pace. She sat at 9 months, crawled at 14 months and walked at 19 months. Each of those milestones took lots of work.  For a while now her parents have felt that in most areas Finley is about a year or a year and a half delayed.  Finley has an Atrial Septal heart defect, but that is the only major health issue she has and for that they are so thankful!

Finley began ABA therapy in September of 2016 and it has been life changing for their family. They have so much hope in what she could be capable of in the future and so proud of how far she has come! Finley is saying new words every day and is now using mostly verbal communication to express her wants and needs.

Finley struggles with keeping her attention on tasks, especially when the family is having fun and trying new foods.  For some unknown reason, PACS1 children really do not enjoy having their hair brushed and Finley is no different. Although Finley has difficulty with coordination and needs physical therapy, she recently achieved the milestone of navigating stairs by herself.  Look out world, Miss Finley is on the move!

Finley’s parents received genetic testing when Finley was an infant. However those tests were negative. In 2016 Finley received Exome sequencing and her family finally had the answer to what makes Finley unique: the diagnosis of PACS1.  The results were a relief to her mom, Erin.

“The best thing is not feeling alone and finally putting an end to the agonizing search for answers.”

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In the Spring of 2017 Finley and her parents attended the first ever PACS1 Family Gathering in the United States. They met 17 other families and were blessed to put real people in their lives who they can learn from and share the PACS1 life together.  They hope other families that struggle with an unknown diagnosis have access to Genetic screening.

 

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