Alexandra’s Journey: Overcoming Challenges with Pitt Hopkins Syndrome (PTHS)
Early Developmental Milestones and Therapy Services
My husband and I are the parents of a beautiful, joyful little girl, Alexandra Nicole. After a happy, healthy pregnancy and delivery, Alexandra quickly reached her early milestones, holding her head up within two weeks. However, between eight and nine months, we noticed she was not meeting her developmental milestones, such as crawling. At 10 months, we started early intervention therapy services at UCP, including physical therapy, occupational therapy, and feeding therapy.
Diagnosis of Pitt Hopkins Syndrome (PTHS)
On April 25, 2016, at 15 months old, Alexandra was diagnosed with Pitt Hopkins Syndrome (PTHS) by her pediatric neurologist. This extremely rare neuro-developmental disorder is caused by a micro-deletion of her TCF4 gene on her 18th chromosome. The news was devastating, but we are grateful for the swift diagnosis. PTHS is characterized by developmental delay, breathing problems, gastrointestinal issues, lack of speech, and distinctive facial features.
UCP Therapists and Alexandra’s Progress
Through the incredible therapists at UCP, Alexandra has made remarkable progress. From barely rolling over a year ago, she can now stand with assistance and support her weight. She has also learned to grasp a spoon and take assisted bites. We have faith that she will continue to progress on her path to crawling and walking, thanks to the dedication and support of her UCP therapy team.
Finding Strength and Support at UCP
The therapists at UCP not only support Alexandra but also serve as our personal cheerleaders in this new journey. They have been instrumental in helping us navigate the challenges of parenting a child with special needs. We are forever grateful for their dedication and support. While 2016 was a challenging year, being parents to Alexandra has taught us invaluable lessons. Alexandra’s presence brings light into our lives, and we are hopeful for her future. Although there is no cure for Pitt Hopkins Syndrome, we believe that through research and support, her future will be bright. We are devoted to raising awareness about PTHS and sharing Alexandra’s journey.
– Nicole and Matt Anderson, Alexandra’s Parents
