Abigail's Journey
Abigail Eve was diagnosed with a rare disease called ADNP Syndrome December 1, 2021. Several months later on July 29, 2022 she was diagnosed with Autism. She also has a 2q13 Deletion and thickened gray matter on her left frontal lobe. This part of the brain is where speech development occurs as well as other important neurological connections. These combined issues all contribute to Abigail’s struggles.
What is ADNP:
Individuals with ADNP syndrome have mild to severe intellectual disability and delayed development of speech and motor skills such as sitting and walking. Some affected individuals are never able to speak. People with this disorder exhibit features typical of autism spectrum disorder, including repetitive behaviors and difficulty with social interactions. ADNP syndrome is also associated with mood disorders or behavioral problems, such as anxiety, temper tantrums, ADHD, OCD or sleep problems amount other issues.
We have no idea how all these things will affect Abigail as she grows older. ADNP was only recently discovered in 2014 and research is in the early stages. Only 300 people worldwide have the ADNP diagnosis, so the doctors can’t tell us much more than what we’ve already learned at this point. Abigail is the first person in the Midwest area diagnosed with ADNP Syndrome.
At this point Abigail is only 5, we do all we can to manage her day to day needs while juggling full time jobs and 2 other active boys. She may always have live at home with us and will likely always need a caregiver. For now, she is making strides every day!
It took 4.5 years to finally get some answers after countless doctor appointments and expensive genetic testing. Even with insurance, many our our bills have not been covered and our medical bills went through the rooftop!
We recently did a t-shirt fundraiser to help offset some of our uncovered medical costs. Our hometown of Glenwood loves Abigail and gave us so much support! We are blessed and thankful.
Abigail loves helping me when we do crafts at home and we have decided to continue this adventure as it’s something she help with more as she grows which provides structure, gives her responsibilities, allows her to be creative and learn new motor skills, colors, letters etc.
Abigail has such a loving heart, enjoys music, animals and nature. She loves helping Mom and Dad do things like cook, clean, golf, and play with her two brothers Aiden and Emmett. She also gives the BEST hugs! As her parents we will do all we can to help her grow and become the best she can be and overcome her struggles.
Her full name is Abigail Eve Bachman. We always planned to nickname her Evie but with her diagnosis that confused her. That is where the name of the design shop comes from.
We will customize shirts, mugs, tumblers, whatever you may need! Hoping to grow this into something we can do long term so Abigail can always have someplace to learn and contribute to. Any profits will continue to help pay for Speech therapy, medical check ups, OT and ABA therapy. Please join our journey as we bond and learn from Abigail and she learns from us!