We have put together this brief 10 minute video to help tell our story.
Birth to 12 Months
My husband, Matt, and I are the parents of a beautiful, joyful little girl, Alexandra Nicole. We had a happy, healthy pregnancy and delivery, she was an ounce shy of eight pounds and within two weeks was holding her head up. We noticed at between eight and nine months she was not meeting her developmental milestones, she could roll over but not crawl. At 10 months she began early intervention therapy services with weekly physical therapy, bi-monthly occupational therapy and at 14 months started bi-monthly feeding therapy. By 15 months, she rolled around and would sit up (assisted to position) and hold that sit unassisted for several minutes playing with her toys. She also was very good at babbling in the way she knows how…”ga ga, ba ba, mmm mmm.” She also began to stand with support.
12 Months to 18 Months
On April 25, 2016, our world was changed forever. She was 15 months and after doing the chromosomal microarray via a saliva swab, she was diagnosed with Pitt Hopkins (deletion of 18q21.2q21.31) by her pediatric neurologist. I am thankful we did not have to go years with unanswered questions or put her through additional testing.
18 Months to 24 Months
Here are a few videos that have captured her most special moments recently.
Today was Alexandra’s first time (in a long time) in the swing. She is getting so much stronger and is learning to use her body when in motion. I know it may not look like a big deal, but to us, it is. In our world there are inchstones and not milestones as most things she learns to do only after a lot of hard work and patience.
Here, she has to engage her core and raise her head (not always easy when you have hypotonia), understand balance (gross motor skill), clasp her fingers around a small rope (fine motor skill), and smile.
Here is another update on Miss Alexandra, finally at nearly 21 months old she can stand AND for nearly 5 minutes! Plus, she reads her books while doing it. I know this looks easy, but for her it literally takes everything she’s got to do it.
While there is no cure for Pitt Hopkins Syndrome, we remain hopeful that one day there will be. Simply put, we are devastated but know through research and support her future will be a bright one.
Many have said 2016 is a year that can’t leave us quick enough. I do have to agree. It was the most difficult year I never imagined having to face. Growing up, falling in love, getting married, starting a family and building a home are all things I dreamed my future would entail. Being a parent to a child with special needs was something that I honestly never thought I would be capable of doing. You can’t plan for it, you don’t expect it, you aren’t ever ready for it…for this different and sometimes scary life. But, through it all, these past 365 days have taught us more than we ever could have imagined learning. Our beautiful, joyful little girl, Alexandra Nicole continues to be our beacon of light. Shining brightly along this new path. Her sweet “voice” can silence a noisy room, her giggles can brighten any day, her tender touch can soothe any heartache…her sweetness runs deep into her soul. She will help change the lives of others that choose to embrace our life with Pitt Hopkins Syndrome. Here are a few moments from 2016. Happy New Year.