AVERY'S JOURNEY WITH
PITT HOPKINS
DIAGNOSIS
At 6 months old Avery was delayed and not meeting milestones. Her pediatrician didn't make us play the waiting game to see if she would catch up, she immediately referred Avery out to specialists. After many specialty appointments, countless blood draws, an MRI, and genetic testing we were given her diagnosis about a year later. Avery was diagnosed with Pitt Hopkins Syndrome March 2023 at 1.5 years old. We are very grateful for her pediatrician who was on top of it. Because of her, we were able to get an early diagnosis and start early intervention at 8 months old.
SYMPTOMS
When the geneticist gave us her diagnosis they listed all of the symptoms and told us she would likely never walk or talk. With early intervention and all of her hard work Avery is proving them wrong. With the help of amazing therapists Avery started walking right after 2 years old and says a few words! She is making more and more sounds and we are hopeful more language will come!
At this time Avery is mainly affected with global delays and autistic tendencies. She is monitored for seizures, eye related issues and mild constipation.
THERAPY
Avery started physical therapy at 8 months old and added other therapies from there (occupational therapy, child development therapy, ABA and speech therapy). Avery continued these therapies until she was 3 years old. At that time we chose to switch from ABA to preschool and continue on with occupational therapy and speech therapy.
Occupational Therapy: Avery is currently working on tasks such as feeding herself with utensils, brushing teeth and putting on/off certain clothing.
Speech Therapy: Avery is currently working with an AAC ipad device to learn to communicate, uses some sign language and says some verbal words.
We are continuing to try to push all forms of communication for her at this time!
Physical Therapy: When Avery turned 3 we took a break from PT and put her in Mommy and Me dance class at Dancin' in Acton. Avery is getting stronger every day and we are currently working on walking longer distances, running, jumping and standing on one leg.
Preschool: Avery is attending Preschool and loving it!
We continue to see improvements in Avery's development and we cannot wait to see how far she can go!
OTHER MEDICAL CONDITIONS
Avery also has an atrial septal defect (ASD), which is a hole in heart. We are unsure if this is related to Pitt Hopkins. She is being monitored and they hope to be able to repair the hole with a catheter through the groin rather than open heart surgery. They estimate she may be big enough for surgery around 5 years old.