Our Story

Our lives changed forever when our sweet boy, Harley, was born on October 24th, 2018! He quickly became the light of our lives.
Around 7 months of age, we started to notice some delays with Harley. He wasn’t sitting up on his own and was showing no signs of wanting to explore his surroundings. We quickly started him in physical therapy, but he wasn’t catching up as quickly as our doctors would have liked. Within weeks we expanded his therapies to weekly sessions of physical therapy - occupational therapy - developmental therapy and speech therapy. We also started seeing doctors on a very regular basis to determine what was causing the delays. After many doctors’ appointments and tests - At 22 months old, Harley was diagnosed with Pitt Hopkins Syndrome.

This is an extremely rare syndrome that affects a specific gene in chromosome 18, called TCF4. There are only 2,000 diagnosed cases worldwide and Harley is one of them. Medical reports say Harley may not be able to walk or talk and he will have profound developmental delays.

This syndrome can also cause breathing problems, seizures, and gastrointestinal issues. Harley was diagnosed on August 18th, 2020 - this is a day we will always remember.

The years after his diagnosis have been very difficult at times. Navigating life when your child has a disability can be extremely challenging. Our day-to-day is filled with uncertainty, doctors’ appointments, and lots of therapy. However, it is also filled with love, awe, HOPE, and excitement as Harley continues to progress. He is such a happy little boy. He has a smile that lights up any room – he brings us so so so much joy daily.

Harley has come so far, over the past years. When he started therapy, Harley couldn’t sit up, transition from sitting to his tummy – do all fours position – stand up next to our couch, etc. He is now almost 4 years old and can do all those things plus so much more. Seeing his progress gives us so much hope for the future. It might be slow progress BUT it is progress. In our house, we do not refer to developmental milestones – as ‘milestones’ – we call them ‘inch stones.’ Every little progression is celebrated – slow and steady wins the race!

We are so blessed with an amazing therapy team and a local school program. They are as invested in Harley’s goals as we are.

Going forward, Harley will require extensive therapies, specialized equipment for his mobility, and adaptive communication devices. We are so hopeful that these therapies and equipment will make his life easier! We hope, fight and pray for a cure for Pitt Hopkins. The Pitt Hopkins Research foundation is working tirelessly to fund research to find that cure. We are hopeful that Harley will be involved in a clinical trial later this year (2022).

Kirby and I have learned so much as we have navigated this diagnosis. The journey to this diagnosis was extremely isolating. We are so thankful that we have had each other through countless doctors’ appointments and many sleepless nights googling (which I do not recommend if you are going through this yourself). We have learned that we have become Harley’s voice and advocate. We hope that this site can offer an honest look at our lives with Harley. This is not the life we would have chosen for our sweet Harley – but here we are.

I will leave you with a quote that has been in my head since his diagnosis – and I am very much trying to focus on the new door that has been opened in our lives. Harley is such a gift.

‘When one door of happiness closes, another opens; but often we look so long at the closed door that we do not see the one which has been opened for us.’ – Helen Keller

Please always keep our sweet Harley in your prayers and thoughts!