We are the Holley family and we live in Homewood, Alabama. We have three precious children- Mary Kate, Annabelle, and JohnWesley. Our son, JohnWesley, is our oldest child. JohnWesley is a happy and loving boy with a contagious smile.

My husband Wes and I could not have been filled with more joy when we found out we were expecting our first. I cherished every second of carrying our sweet boy and preparing for his arrival. I had a dream pregnancy. There were not any concerns or complications. I felt great and at each appointment baby and I looked great! Even JohnWesley’s birth seemed to be quite perfect- my water broke on its own and he came on his due date. From the second I met JohnWesley, I felt as if he was special. I will always remember the strong bond we formed instantly.

Not long after arriving, JohnWesley started the now on-going trend of making our life anything but “normal”. He had to be taken to the NICU because he could not regulate his breathing. We stayed a week and were eventually told this happened often with male babies and did not have any cause for concern regarding future development.

When JohnWesley was around 7 months old something started to feel unsettling while watching him develop. Everything on paper seemed fine but some dots were not connecting. We started to express concern to our pediatrician. We were confidently assured that everything was fine. After several attempts to seek guidance from the pediatrician, we decided to have JohnWesley evaluated on our own. When JohnWesley was 13 months old he was evaluated and he qualified for services and began  intervention from then on. We sought out the Bell Center, a local program for early intervention and they became our life line! They referred us to have an MRI done on JohnWesley, believing something may be off with his balance and midline. UAB now requires children to have genetic testing done before receiving an MRI if they are developmentally delayed. We saw the genetic testing as nothing more than an item on a check list we had to complete to have the MRI done. JohnWesley had an initial round of genetic testing that test hundreds of genes and that came back normal. He then had a 2^nd round of testing done that test thousands of genes. The results from that test can take up to 6 months to receive. Months passed and we had forgotten about the test. That is, until that Thursday morning in April 2015 when we received the call that JohnWesley has a mutation of gene TCF4 on Chromosme 18- indicating a disease referred to as Pitt-Hopkins Syndrome.

Pitt Hopkins Syndrome is an intellectual disability that can encompass many symptoms. Some or all may suffer from: delayed or deficient fine and gross motor skills, lack of speech, delayed or no walking, low muscle tone, severe GI issues, epilepsy, vision problems, autism-spectrum behaviors, breathing issues, mitochondrial deficiencies, and more.

Our life changed that day we received his diagnosis. It is something that is hard to even sit here and attempt to put into words. Our love and admiration did not change- actually it grew- but everything we had envisioned for our child- every dream, every perceived future milestone and accomplishment vanished and a whole new life came to light before our very eyes. The grieving process was hard and it is on-going. BUT- oh how life is so rich. We celebrate things so many take for granted. JohnWesley constantly opens our eyes to what really matters. He has taught us love, patience, acceptance, and advocacy in a way that we could have never understood before. He has also opened our hearts to a whole new world of people. These families are beautiful, their children are superheroes and we all share a mutual understanding that absolutely nothing in life can be taken for granted.

I imagine that a lot of times JohnWesley feels frustrated and isolated.  I imagine our girls sometimes feel frustrated and isolated. And, there are days Wes and I feel frustrated and isolated. A disease as rare as Pitt Hopkins Syndrome needs awareness. By raising awareness we give these precious children a voice, and could help others to receive a diagnosis. Also, by raising money we can hopefully fund research to find a cure. We will fight every single day for the rest of our lives for our sweet boy. Please join us in doing something that matters!