"She was constantly screaming in pain. We didn’t know what the pain was about, but we know now"

As told by Lisa, mother to Julia who was eventually diagnosed with Pitt-Hopkins Syndrome. Julia’s parents spent six years searching for an answer for their daughter’s pain, all while trying to find the best way to help her without knowing what was causing her symptoms. Julia’s diagnosis opened the door to a community and support network for both Julia and her family.

I had no idea that something might be wrong until Julia's six-week checkup. She had been struggling with feeding, but I thought it was more about my being nervous. Her pediatrician mentioned that something might be wrong with her based on the results from some standard tests. Julia's neck was not strong enough to hold up her head. That's when it came to light that she had low gastrointestinal motility and was severely hypertonic. She was failing to thrive at a very young age.  

She was constantly screaming and not getting enough food. She had to go to feeding therapy. She choked quite a few times a week. When my husband and I were going through it, we didn't know what the pain was about. The doctors were as baffled as we were.  

When the nurse practitioner first mentioned it could be a rare disease, I freaked out. I didn't know what to think. From that moment on, we started to try and figure out what was wrong with her. They gave us a diagnosis of cerebral palsy to help with services and funding from the state, but we knew that wasn't it. An MRI showed no brain damage, and there was nothing problematic about Julia's birth.  

For the first three years of her life, we were at the doctor's office almost every month, trying to figure out what was wrong so we could help her. I had no idea about what rare diseases were out there as we were searching for a diagnosis. Even searching online became difficult – and after two years, we just stopped looking online.  

Before her diagnosis, everything was driven by me. It was all me and my husband working together as a team, trying to figure out what could be best for Julia. As parents going through this, you just want help, but you don't know where to get it.

Someone mentioned Angelman Syndrome, a sister diagnosis, and we did a genetic test, which came back negative. Julia went through multiple genetic tests, several surgeries, biopsies, MRI's, a test for tethered spine. Everything kept coming back negative.  

It was hard to know what clues to look for.  Looking back, I know now. At the time I had no idea.  

We were in the dark up until she was six years old. It was then that one of her doctors who specialized in genetics recommended that we do more even though the first two genetic tests had come back negative. It took about 8 months to get the results – but finally, we had an answer: Julia had Pitt-Hopkins Syndrome.  

It's really hard when you don't know. But when you do know, it's hard too.

You get both closure and hope. There's a chapter closed that we know the answer to, but then there's hope that studies can help my daughter and other children like her.  

Julia is now 12 years old. Since her diagnosis, we have connected with other families who have children with Pitt-Hopkins. We can talk about how our kids are going through the same thing like we're not crazy, we're not reaching for the sky. We can also share what is working for our kids – for example, if Julia is having GI issues, how can we resolve it or find other solutions? It's helpful to know that Julia isn't alone and that there are kids out there facing the same problems.  

Learn more about Pitt-Hopkins Syndrome

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