The next 5-7 months we battled chronic ear infections and other illnesses, having tubes put in was a challenge because he was too sick to be put under. We finally had a window and the surgery was done. No more ear infections! Smooth sailing going forward… well that was just the start of it. Around age 8-9 months we became curious as to why Stiles wasn’t rolling, holding his own bottle, feeding himself finger foods, sitting up on his own, babbling, sleeping properly, doing what any normal 8-9-month-old would be doing. We spoke to our pediatrician about our concerns so she suggested that Stiles could have some delayed development and we should enroll him into the Millard Schools early intervention program for babies his age to help get him back on track. We jumped right on it and had him evaluated which he qualified for. Every week they would come over, work with him, give us tips on what we can do to help him learn things, and to help him progress. Everything seemed to be going good but he wasn’t progressing as fast as we all thought he should. There was an underlying issue somewhere but we kept moving forward and working with him.
During his one year checkup, he still was the same but at that time he could finally stay sitting up without support. It was a milestone for us but just a small one. Our pediatrician said that his head measurements were smaller than normal but it wasn’t something to worry about. Well we did worry about it, after a few weeks we made appointments to get a 2nd opinion. We had a visit with a neurologist at Children’s Hospital in July, she was very concerned with his head size and scheduled him for an MRI at the end of the month along with some blood work. She wrote us a prescription to Wiggles & Giggles Therapy for kids to work on furthering his development. Our lives were flipped upside down in August 2017 when we found an answer to the problems and the questions we have been facing since Stiles was born, he had an abnormal finding in his MRI scan of his brain. There was no name for it at the time but it helped us find out what was going on and to keep him up on his therapy. We went back for another visit, this time to have blood work done so they could send it to a geneticist to find the cause of his MRI finding. After a month of waiting for the results we received a call and we’re told Stiles has a very rare genetic disorder called Pitt Hopkins Syndrome (PTHS) “a genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by developmental delay, possible breathing problems of episodic hyperventilation and/or breath-holding while awake, recurrent seizures/epilepsy, gastrointestinal issues, lack of speech, and distinctive facial features. As we learn more about Pitt Hopkins, the developmental spectrum of the disorder is widening, it can also include difficulties with anxiety and ADHD, and sensory disorders”
We read up on PTHS and it was amazing how he compared with all the symptoms and issues he’s been having. We didn’t know what to think, what to do, or even how to react. We just felt lost, worried, scared of what the future has in stake for our little family. What we did know is we have family here to support us and help us face this challenge head on but there’s only so much they can do. Stiles needs help, professional help. He will need therapy and special needs probably for his entire life. We love our little man and we are willing to do whatever it takes to make sure he gets the care and treatments he needs to make improvements mentally and physically. PTHS isn’t something that has been known and studied for the past hundred years, it was just established in 2007. From our research, there’s only about 700 known cases of PTHS in the world and only three clinics in the US that run studies and find ways for treatments.
We are in the process of scheduling his first appointment/study at the world’s first PTHS clinic at Mass General Hospital for Children in Boston, MA so we can further our understanding and to receive the proper treatments Stiles will need back home in Nebraska. We have no idea what this will do to us financially, but we must do this for Stiles. We don’t want him to get behind and want what’s best for him and his needs. We’ve made it this far without having to ask for help financially and it hurts us to have to ask for this but we need it, we need your help so we can get him on a path for proper treatment and care. This is going to be a long road, but we won’t let it stop us from being a happy, loving family. We want you to always look at Stiles like any other person and treat him just like anyone else. Stiles brings so much joy to our lives and it’s something we wouldn’t change for the world. We love Stiles and the love he shares for others.
The Petersen Family
*If you are interested in learning more about this syndrome, you can go to www.pitthopkins.org
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